#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
GUCY2C	2984	broad.mit.edu	37	12	14774147	14774147	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:14774147delC	ENST00000261170.3	-	23	2741	c.2605delG	c.(2605-2607)gaafs	p.E869fs	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	869	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CCGATGGTTTCCACCTGTGGA	0.433																																						ENST00000261170.3	0.630000	0.300000	5.400000e-01	3.700000e-01	0.450000	0.462958	0.450000	0.450000																										0				51						c.(2605-2607)gaafs		guanylate cyclase 2C (heat stable enterotoxin receptor)	Linaclotide(DB08890)						168.0	153.0	158.0					12																	14774147		2203	4300	6503	SO:0001589	frameshift_variant	2984	0	0					g.chr12:14774147delC		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2605delG	chr12.hg19:g.14774147delC	ENSP00000261170:p.Glu869fs	1					RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	p.E869fs	NM_004963.3	NP_004954.2	0	1	1	1.799347	P25092	GUC2C_HUMAN		23	2741	-			B2RMY6	Frame_Shift_Del	DEL	ENST00000261170.3	0	1	hg19	c.2605delG	CCDS8664.1	0																																																																																								0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.433	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1	1	0	1		19	2		0	0	0	2	117	0	117	115	1	1.890000	-3.016822	1	0.230000			0	26	34	0	414	400	0	0	1	0		0	0	117	0	0	0.879041	3.860964e-03		0	0	2	0	26	414
RNF43	54894	broad.mit.edu	37	17	56439980	56439980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:56439980delT	ENST00000584437.1	-	5	2567	c.612delA	c.(610-612)acafs	p.T204fs	RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	204					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCACCACTGTCATTAGGA	0.592																																						ENST00000584437.1	0.920000	0.510000	8.200000e-01	6.000000e-01	0.700000	0.717421	0.700000	0.710000																										0				60						c.(610-612)acafs		ring finger protein 43							111.0	93.0	99.0					17																	56439980		2203	4300	6503	SO:0001589	frameshift_variant	54894	0	0					g.chr17:56439980delT		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.612delA	chr17.hg19:g.56439980delT	ENSP00000463069:p.Thr204fs	1					RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs	p.T204fs			0	1	1	1.788829	Q68DV7	RNF43_HUMAN		5	2567	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	1	1	hg19	c.612delA	CCDS11607.1	0																																																																																								0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	1		2	2	2	0	0	0	0	98	0	98	98	1	1.890000	-12.521570	1	0.230000	NM_017763		0	37	39	0	360	358	0	0	1	1	1	0	0	98	854	0	1.000000	4.858765e-02	1	2	114	2	1132	37	360
SMAD4	4089	broad.mit.edu	37	18	48591908	48591916	+	In_Frame_Del	DEL	TGGAGGAGA	TGGAGGAGA	-	rs121912576		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			TGGAGGAGA	-	TGGAGGAGA	TGGAGGAGA		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:48591908_48591916delTGGAGGAGA	ENST00000342988.3	+	9	1609_1617	c.1071_1079delTGGAGGAGA	c.(1069-1080)tctggaggagat>tct	p.GGD358del	SMAD4_ENST00000588745.1_In_Frame_Del_p.GGD262del|SMAD4_ENST00000398417.2_In_Frame_Del_p.GGD358del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	358	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.G358*(4)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGACCCTTCTGGAGGAGATCGCTTTTGT	0.411																																						ENST00000342988.3	0.860000	0.430000	7.600000e-01	5.200000e-01	0.630000	0.646029	0.630000	0.630000																										42	Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(2)	p.0?(36)|p.G358*(4)|p.?(2)	pancreas(29)|large_intestine(3)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)	454						c.(1069-1080)tctggaggagat>tct		SMAD family member 4																																				SO:0001651	inframe_deletion	4089	0	0					g.chr18:48591908_48591916delTGGAGGAGA	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1071_1079delTGGAGGAGA	chr18.hg19:g.48591908_48591916delTGGAGGAGA	ENSP00000341551:p.Gly358_Asp360del	1					SMAD4_ENST00000588745.1_In_Frame_Del_p.GGD262del|SMAD4_ENST00000398417.2_In_Frame_Del_p.GGD358del	p.GGD358del	NM_005359.5	NP_005350.1	0	1	1	1.803354	Q13485	SMAD4_HUMAN		9	1609_1617	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	In_Frame_Del	DEL	ENST00000342988.3	1	1	hg19	c.1071_1079delTGGAGGAGA	CCDS11950.1	0																																																																																								0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.411	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1		29	2	2	0	0	0	4	90	0	90	92	1	1.890000	-3.017764	1	0.230000	NM_005359		0	28	48	0	308	321	0	0	1	0	1	0	0	90	926	0	0.639988	8.788688e-01	1	0	62	43	871	28	308
PCLO	27445	broad.mit.edu	37	7	82583922	82583923	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:82583922_82583923delAG	ENST00000333891.9	-	5	6683_6684	c.6346_6347delCT	c.(6346-6348)cttfs	p.L2116fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.L2116fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGAATCTGTAAGAGACGCTCCT	0.436																																						ENST00000333891.9	1.000000	0.530000	9.900000e-01	6.600000e-01	0.810000	0.815370	0.810000	1.000000																										0				259						c.(6346-6348)cttfs		piccolo presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	27445	0	0					g.chr7:82583922_82583923delAG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6346_6347delCT	chr7.hg19:g.82583924_82583925delAG	ENSP00000334319:p.Leu2116fs	0					PCLO_ENST00000423517.2_Frame_Shift_Del_p.L2116fs	p.L2116fs	NM_033026.5	NP_149015.2	0	1	1	2.015375				5	6683_6684	-				Frame_Shift_Del	DEL	ENST00000333891.9	1	1	hg19	c.6346_6347delCT	CCDS47630.1	0																																																																																								0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.436	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	0		2			0	0	0	0	72	0	72	71	1	1.890000	-20.000000	1	0.230000	NM_014510		0	22	31	0	212	213	0	0	1			0	0	72	0	0	0.999999			0	0	0	0	22	212
BTRC	8945	broad.mit.edu	37	10	103292106	103292106	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:103292106C>A	ENST00000370187.3	+	8	1013	c.895C>A	c.(895-897)Cga>Aga	p.R299R	BTRC_ENST00000408038.2_Silent_p.R263R|BTRC_ENST00000393441.4_Silent_p.R258R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AATTCACTGCCGAAGTGAAAC	0.398																																						ENST00000370187.3	0.340000	0.130000	2.900000e-01	1.700000e-01	0.220000	0.232253	0.220000	0.220000																										0				27						c.(895-897)Cga>Aga		beta-transducin repeat containing E3 ubiquitin protein ligase							147.0	149.0	148.0					10																	103292106		2203	4300	6503	SO:0001819	synonymous_variant	8945	0	0					g.chr10:103292106C>A	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.895C>A	chr10.hg19:g.103292106C>A		0					BTRC_ENST00000393441.4_Silent_p.R258R|BTRC_ENST00000408038.2_Silent_p.R263R	p.R299R	NM_033637.3	NP_378663.1	0	1	1	1.914114	Q9Y297	FBW1A_HUMAN		8	1013	+		Colorectal(252;0.234)	B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	1	1	hg19	c.895C>A	CCDS7512.1	0																																																																																								0.192872		TCGA-HZ-A77Q-01A-11D-A36O-08	0.398	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	0	0	1	2	2	2	2	0	0	0	0	157	157	157	156	1	1.890000	-2.062870	0	0.230000	NM_033637		0	16	15	0	585	576	0		1	0		0	0	157	0	0	0.999923	5.185707e-02	0	0	0	13	0	16	585
ACADSB	36	broad.mit.edu	37	10	124797320	124797320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:124797320C>A	ENST00000358776.4	+	3	274	c.260C>A	c.(259-261)tCg>tAg	p.S87*	ACADSB_ENST00000368869.4_Intron|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	87					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.S87L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GATGAAAATTCGAAAATGGAG	0.313																																						ENST00000358776.4	0.220000	0.060000	1.800000e-01	9.000000e-02	0.130000	0.141564	0.130000	0.130000																										1	Substitution - Missense(1)	p.S87L(1)	large_intestine(1)	17						c.(259-261)tCg>tAg		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)|Valproic Acid(DB00313)						87.0	99.0	95.0					10																	124797320		2203	4296	6499	SO:0001587	stop_gained	36	0	0					g.chr10:124797320C>A	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.260C>A	chr10.hg19:g.124797320C>A	ENSP00000357873:p.Ser87*	0					ACADSB_ENST00000368869.4_Intron|ACADSB_ENST00000496730.2_3'UTR	p.S87*	NM_001609.3	NP_001600.1	0	1	1	1.914114	P45954	ACDSB_HUMAN		3	274	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	B4DQ51|Q5SQN6|Q96CX7	Nonsense_Mutation	SNP	ENST00000358776.4	0	1	hg19	c.260C>A	CCDS7634.1	0	.	.	.	.	.	.	.	.	.	.	C	33	5.221647	0.95139	.	.	ENSG00000196177	ENST00000358776	.	.	.	5.93	5.01	0.66863	5.93	5.01	0.66863	.	0.132878	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	16.3753	0.83383	0.133:0.867:0.0:0.0	.	.	.	.	X	87	.	ENSP00000357873:S87X	S	+	2	0	0	ACADSB	124787310	124787310	0.964000	0.33143	0.998000	0.56505	0.979000	0.70002	4.641000	0.61375	1.466000	0.48025	0.655000	0.94253	TCG	0.192872		TCGA-HZ-A77Q-01A-11D-A36O-08	0.313	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	0	0	1	2	2	2	2	0	0	0	0	153	153	153	150	1	1.890000	-2.292761	0	0.230000	NM_001609		0	11	10	0	686	674	0		1	0		0	0	153	0	0	0.998148	4.508568e-03	0	1	0	5	0	11	686
GDI2	2665	broad.mit.edu	37	10	5827938	5827938	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:5827938G>T	ENST00000380191.4	-	5	754	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q|GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	155					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAAAGTTCTTGGATCTTTTTC	0.348																																						ENST00000380191.4	0.240000	0.050000	1.800000e-01	8.000000e-02	0.120000	0.138272	0.120000	0.120000																										0				10						c.(463-465)cCa>cAa		GDP dissociation inhibitor 2							125.0	122.0	123.0					10																	5827938		2203	4300	6503	SO:0001583	missense	2665	0	0					g.chr10:5827938G>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.464C>A	chr10.hg19:g.5827938G>T	ENSP00000369538:p.Pro155Gln	0					GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q|GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q	p.P155Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	0	0	0	1.901996	P50395	GDIB_HUMAN		5	754	-			O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	0	1	hg19	c.464C>A	CCDS7071.1	0	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396501	0.42512	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.364847	0.34932	N	0.003574	T	0.69278	0.3093	M	0.86420	2.815	0.80722	D	1	B;B;B	0.19331	0.035;0.025;0.008	B;B;B	0.31442	0.117;0.13;0.073	T	0.70572	-0.4835	10	0.66056	D	0.02	-11.3866	18.9459	0.92622	0.0:0.0:1.0:0.0	.	159;110;155	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	Q	155;159;110;145;119	ENSP00000369538:P155Q;ENSP00000369475:P159Q;ENSP00000369528:P110Q;ENSP00000401733:P145Q;ENSP00000394177:P119Q	ENSP00000369475:P159Q	P	-	2	0	0	GDI2	5867944	5867944	1.000000	0.71417	0.149000	0.22428	0.114000	0.19823	9.668000	0.98619	2.653000	0.90120	0.655000	0.94253	CCA	0.176999		TCGA-HZ-A77Q-01A-11D-A36O-08	0.348	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	0	0	1	2	2	2	2	0	0	0	0	118	118	118	116	1	1.890000	-2.528173	1	0.230000	NM_001494		0	7	7	0	457	447	0		1	0		0	0	118	0	0	0.979208	9.531543e-01	0	0	0	355	0	7	457
FRMD4A	55691	broad.mit.edu	37	10	13712473	13712473	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:13712473G>T	ENST00000357447.2	-	17	1675	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	436					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCGAACAATGGGTGGTTCCTC	0.502																																						ENST00000357447.2	0.300000	0.070000	2.300000e-01	1.100000e-01	0.160000	0.176515	0.160000	0.160000																										0				41						c.(1306-1308)cCc>cAc		FERM domain containing 4A							169.0	158.0	162.0					10																	13712473		2203	4300	6503	SO:0001583	missense	55691	0	0					g.chr10:13712473G>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1307C>A	chr10.hg19:g.13712473G>T	ENSP00000350032:p.Pro436His	0					FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H	p.P436H	NM_018027.3	NP_060497.3	0	0	0	1.901996	Q9P2Q2	FRM4A_HUMAN		17	1675	-			A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	0	1	hg19	c.1307C>A	CCDS7101.1	0	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874849	0.91664	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.88201	-2.34;-2.35;-2.35;-2.14	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93758	0.7064	10	0.72032	D	0.01	-23.2153	18.8905	0.92399	0.0:0.0:1.0:0.0	.	469;436	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	H	421;436;436;469	ENSP00000351438:P421H;ENSP00000350032:P436H;ENSP00000367764:P436H;ENSP00000264546:P469H	ENSP00000264546:P469H	P	-	2	0	0	FRMD4A	13752479	13752479	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	9.610000	0.98337	2.707000	0.92482	0.655000	0.94253	CCC	0.176999		TCGA-HZ-A77Q-01A-11D-A36O-08	0.502	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	0	0	1	2	2	2	2	0	0	0	0	91	91	91	91	1	1.890000	-2.822692	1	0.230000	NM_018027		0	7	7	0	355	351	0		1	0		0	0	91	0	0	0.980075	7.484993e-02	0	0	0	20	0	7	355
CCDC7	79741	broad.mit.edu	37	10	32780874	32780874	+	Missense_Mutation	SNP	G	G	T	rs368821033		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:32780874G>T	ENST00000362006.5	+	10	1364	c.821G>T	c.(820-822)cGa>cTa	p.R274L	CCDC7_ENST00000537047.1_3'UTR|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L|CCDC7_ENST00000535327.1_Intron	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	274										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ATGACTAATCGATTTAATGCC	0.249																																						ENST00000362006.5	0.210000	0.080000	1.700000e-01	1.000000e-01	0.130000	0.143368	0.130000	0.140000																										0				14						c.(820-822)cGa>cTa		coiled-coil domain containing 7							71.0	80.0	77.0					10																	32780874		2203	4295	6498	SO:0001583	missense	79741	0	0					g.chr10:32780874G>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.821G>T	chr10.hg19:g.32780874G>T	ENSP00000355078:p.Arg274Leu	0					CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L|CCDC7_ENST00000537047.1_3'UTR|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000535327.1_Intron	p.R274L	NM_145023.4	NP_659460.3	0	0	0	1.901996	Q96M83	CCDC7_HUMAN		10	1364	+		Breast(68;0.000207)|Prostate(175;0.0107)	Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	0	1	hg19	c.821G>T	CCDS7173.1	0	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633269	0.47049	.	.	ENSG00000216937	ENST00000277657;ENST00000362006	T;T	0.38887	1.11;1.11	4.13	-2.58	0.06228	4.13	-2.58	0.06228	.	.	.	.	.	T	0.34832	0.0911	L	0.34521	1.04	0.09310	N	1	P	0.46064	0.872	P	0.46685	0.524	T	0.35943	-0.9768	9	0.66056	D	0.02	-5.7463	9.3861	0.38345	0.7177:0.0:0.2823:0.0	.	274	Q96M83	CCDC7_HUMAN	L	274	ENSP00000277657:R274L;ENSP00000355078:R274L	ENSP00000277657:R274L	R	+	2	0	0	CCDC7	32820880	32820880	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.418000	0.07080	-0.510000	0.06523	0.561000	0.74099	CGA	0.176999		TCGA-HZ-A77Q-01A-11D-A36O-08	0.249	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	0	0	1	2	2	2	2	0	0	0	0	256	256	256	255	1	1.890000	-2.353722	0	0.230000	NM_145023		0	20	19	0	1165	1144	0		1			0	0	256	0	0	0.999994	0	0	0	0	0	0	20	1165
ANK3	288	broad.mit.edu	37	10	61824022	61824022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:61824022G>T	ENST00000280772.2	-	39	12535	c.12344C>A	c.(12343-12345)tCa>tAa	p.S4115*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4115	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCATCCACTGAAAAATTCAG	0.313																																						ENST00000280772.2	0.330000	0.090000	2.600000e-01	1.300000e-01	0.180000	0.199305	0.180000	0.180000																										0				196						c.(12343-12345)tCa>tAa		ankyrin 3, node of Ranvier (ankyrin G)							72.0	76.0	75.0					10																	61824022		2203	4298	6501	SO:0001587	stop_gained	288	0	0					g.chr10:61824022G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12344C>A	chr10.hg19:g.61824022G>T	ENSP00000280772:p.Ser4115*	0					ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503*	p.S4115*	NM_020987.3	NP_066267.2	0	1	1	1.914114	Q12955	ANK3_HUMAN		39	12535	-			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	0	1	hg19	c.12344C>A	CCDS7258.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.037921|6.037921	0.97226|0.97226	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000514197;ENST00000511043|ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.34245	.|N	.|0.004129	T|.	0.53334|.	0.1790|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42816|.	-0.9429|.	4|.	.|0.07813	.|T	.|0.8	.|.	19.1741|19.1741	0.93597|0.93597	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	9;62|4115;1496;94;636;636;1503;1482;737	.|.	.|ENSP00000280772:S4115X	Q|S	-|-	1|2	0|0	0|0	ANK3|ANK3	61494028|61494028	61494028|61494028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.863000|7.863000	0.87023|0.87023	2.530000|2.530000	0.85305|0.85305	0.655000|0.655000	0.94253|0.94253	CAG|TCA	0.192872		TCGA-HZ-A77Q-01A-11D-A36O-08	0.313	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	0	1	2	2	2	2	0	0	0	0	97	97	97	97	1	1.890000	-2.898622	1	0.230000	NM_020987		0	9	9	0	401	395	0		1	0		0	0	97	0	0	0.993940	2.483306e-02	0	0	0	10	0	9	401
TET1	80312	broad.mit.edu	37	10	70450608	70450608	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:70450608C>A	ENST00000373644.4	+	12	5657	c.5448C>A	c.(5446-5448)acC>acA	p.T1816T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1816					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAGTGAAACCGAACCCCATT	0.428																																						ENST00000373644.4	0.270000	0.060000	2.100000e-01	1.000000e-01	0.140000	0.159116	0.140000	0.140000																										0				21						c.(5446-5448)acC>acA		tet methylcytosine dioxygenase 1							84.0	87.0	86.0					10																	70450608		2203	4300	6503	SO:0001819	synonymous_variant	80312	0	0					g.chr10:70450608C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5448C>A	chr10.hg19:g.70450608C>A		0						p.T1816T	NM_030625.2	NP_085128.2	0	1	1	1.914114	Q8NFU7	TET1_HUMAN		12	5657	+			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	0	1	hg19	c.5448C>A	CCDS7281.1	0																																																																																								0.192872		TCGA-HZ-A77Q-01A-11D-A36O-08	0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	0	0	1	2	2	2	2	0	0	0	0	143	143	143	139	1	1.890000	-2.523747	1	0.230000	NM_030625		0	8	7	0	455	447	0		1	0		0	0	143	0	0	0.988619	0	0	0	0	1	0	8	455
ANXA11	311	broad.mit.edu	37	10	81930605	81930605	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:81930605T>C	ENST00000438331.1	-	5	604	c.122A>G	c.(121-123)aAc>aGc	p.N41S	ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	41					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.N41I(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGTGGCCACGTTATCCAGCCC	0.652																																						ENST00000438331.1	0.800000	0.320000	6.700000e-01	4.200000e-01	0.530000	0.550397	0.530000	0.530000																										1	Substitution - Missense(1)	p.N41I(1)	ovary(1)	17						c.(121-123)aAc>aGc		annexin A11							73.0	65.0	67.0					10																	81930605		2203	4300	6503	SO:0001583	missense	311	0	0					g.chr10:81930605T>C	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.122A>G	chr10.hg19:g.81930605T>C	ENSP00000398610:p.Asn41Ser	0					ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S|ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S	p.N41S	NM_145869.1	NP_665876.1	0	1	1	1.914114	P50995	ANX11_HUMAN	Colorectal(32;0.109)	5	604	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	1	1	hg19	c.122A>G	CCDS7364.1	0	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921685	0.33908	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.02280	4.55;4.55;4.55;4.55;4.55;4.55;4.36	4.69	4.69	0.59074	4.69	4.69	0.59074	.	3.387150	0.00706	N	0.000810	T	0.06735	0.0172	N	0.22421	0.69	0.45066	D	0.998081	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.935;0.935	T	0.52124	-0.8617	10	0.08381	T	0.77	.	12.4176	0.55502	0.0:0.0:0.0:1.0	.	141;41;41	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	S	41;41;41;41;41;41;41;8;41;41	ENSP00000361305:N41S;ENSP00000404412:N41S;ENSP00000398610:N41S;ENSP00000353827:N41S;ENSP00000265447:N41S;ENSP00000441748:N41S;ENSP00000441400:N8S	ENSP00000265447:N41S	N	-	2	0	0	ANXA11	81920585	81920585	1.000000	0.71417	0.992000	0.48379	0.096000	0.18686	4.811000	0.62606	1.886000	0.54624	0.364000	0.22116	AAC	0.192872		TCGA-HZ-A77Q-01A-11D-A36O-08	0.652	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	1	0	1	2	2	2	2	0	0	0	0	76	76	76	76	1	1.890000	-19.932470	1	0.230000	NM_145869		0	17	17	0	248	245	1		1	1		0	0	76	0	0	0.999967	9.999964e-01	0	53	0	282	0	17	248
ZRANB1	54764	broad.mit.edu	37	10	126662279	126662279	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:126662279C>A	ENST00000359653.4	+	4	1593	c.1222C>A	c.(1222-1224)Caa>Aaa	p.Q408K		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	408	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TAGAGACGTTCAAAAAGGTAA	0.328																																						ENST00000359653.4	0.190000	0.050000	1.500000e-01	7.000000e-02	0.110000	0.119192	0.110000	0.110000																										0				23						c.(1222-1224)Caa>Aaa		zinc finger, RAN-binding domain containing 1							122.0	125.0	124.0					10																	126662279		2203	4299	6502	SO:0001583	missense	54764	0	0					g.chr10:126662279C>A	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1222C>A	chr10.hg19:g.126662279C>A	ENSP00000352676:p.Gln408Lys	0						p.Q408K	NM_017580.2	NP_060050.2	0	1	1	1.914114	Q9UGI0	ZRAN1_HUMAN		4	1593	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	0	1	hg19	c.1222C>A	CCDS7642.1	0	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995286	0.74703	.	.	ENSG00000019995	ENST00000359653	T	0.20200	2.09	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	M	0.69823	2.125	0.80722	D	1	P	0.43169	0.8	B	0.35899	0.213	T	0.15752	-1.0426	10	0.49607	T	0.09	-25.352	18.3777	0.90440	0.0:1.0:0.0:0.0	.	408	Q9UGI0	ZRAN1_HUMAN	K	408	ENSP00000352676:Q408K	ENSP00000352676:Q408K	Q	+	1	0	0	ZRANB1	126652269	126652269	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.593000	0.67550	2.562000	0.86427	0.650000	0.86243	CAA	0.192872		TCGA-HZ-A77Q-01A-11D-A36O-08	0.328	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	0	0	1	2	2	2	2	0	0	0	0	192	192	192	191	1	1.890000	-2.402909	0	0.230000	NM_017580		0	11	12	0	818	803	0		1	0		0	0	192	0	0	0.998172	9.345083e-02	0	0	0	35	0	11	818
EIF4G2	1982	broad.mit.edu	37	11	10823915	10823915	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:10823915G>T	ENST00000526148.1	-	12	1574	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGCATGAACGGTCCCTCCAG	0.438																																						ENST00000526148.1	0.200000	0.040000	1.500000e-01	7.000000e-02	0.100000	0.119405	0.100000	0.100000																										0				43						c.(1063-1065)cCg>cAg		eukaryotic translation initiation factor 4 gamma, 2							139.0	136.0	137.0					11																	10823915		2201	4294	6495	SO:0001583	missense	1982	0	0					g.chr11:10823915G>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1064C>A	chr11.hg19:g.10823915G>T	ENSP00000433664:p.Pro355Gln	0					SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q	p.P355Q	NM_001172705.1	NP_001166176	1	2	3	2.026526				12	1574	-				Missense_Mutation	SNP	ENST00000526148.1	0	1	hg19	c.1064C>A	CCDS31428.1	0	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564900	0.65651	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416	T;T;T;T;T	0.22743	2.27;2.27;2.27;2.25;1.94	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.096982	0.64402	D	0.000001	T	0.22627	0.0546	L	0.36672	1.1	0.35089	D	0.764105	P;P;P	0.43578	0.662;0.532;0.811	B;B;B	0.40134	0.32;0.171;0.119	T	0.02668	-1.1126	9	0.51188	T	0.08	-4.9893	20.3626	0.98863	0.0:0.0:1.0:0.0	.	355;355;428	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	Q	355;355;355;355;428;355	ENSP00000433664:P355Q;ENSP00000433371:P355Q;ENSP00000340281:P355Q;ENSP00000379778:P355Q;ENSP00000431583:P355Q	ENSP00000340281:P355Q	P	-	2	0	0	EIF4G2	10780491	10780491	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.313000	0.72844	2.885000	0.99019	0.655000	0.94253	CCG	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.438	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	0	0	1	2	2	2	2	0	0	0	0	184	184	184	180	1	1.890000	-2.107972	0	0.230000	NM_001418		0	9	9	0	773	756	0		1	0		0	0	184	0	0	0.993636	9.932455e-01	0	1	0	754	0	9	773
OR52E8	390079	broad.mit.edu	37	11	5878217	5878217	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:5878217C>A	ENST00000537935.1	-	1	747	c.716G>T	c.(715-717)cGa>cTa	p.R239L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTTTGAGTCGAGCTTCCCA	0.418																																						ENST00000537935.1	0.290000	0.070000	2.200000e-01	1.100000e-01	0.150000	0.172535	0.150000	0.150000																										0				20						c.(715-717)cGa>cTa		olfactory receptor, family 52, subfamily E, member 8							81.0	91.0	87.0					11																	5878217		2141	4296	6437	SO:0001583	missense	390079	5	121044	39				g.chr11:5878217C>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.716G>T	chr11.hg19:g.5878217C>A	ENSP00000444054:p.Arg239Leu	0					TRIM5_ENST00000380027.1_Intron	p.R239L	NM_001005168.1	NP_001005168.1	1	2	3	2.026526	Q6IFG1	O52E8_HUMAN		1	747	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	B9EH38	Missense_Mutation	SNP	ENST00000537935.1	0	1	hg19	c.716G>T	CCDS31400.1	0	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389468	0.42410	.	.	ENSG00000183269	ENST00000537935	T	0.00330	8.08	4.42	3.47	0.39725	4.42	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.129746	0.34700	N	0.003757	T	0.00936	0.0031	M	0.93375	3.41	0.09310	N	1	D	0.64830	0.994	D	0.69824	0.966	T	0.24333	-1.0163	10	0.87932	D	0	.	7.2403	0.26092	0.1727:0.7351:0.0:0.0922	.	239	Q6IFG1	O52E8_HUMAN	L	239	ENSP00000444054:R239L	ENSP00000444054:R239L	R	-	2	0	0	OR52E8	5834793	5834793	0.000000	0.05858	0.001000	0.08648	0.792000	0.44763	0.588000	0.23924	1.169000	0.42739	0.549000	0.68633	CGA	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.418	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	0	0	1	2	2	2	2	0	0	0	0	129	129	129	127	1	1.890000	-3.302136	1	0.230000	NM_001005168		0	10	10	0	568	561	0		1			0	0	129	0	0	0.996727	0	0	0	0	0	0	10	568
TRAF6	7189	broad.mit.edu	37	11	36518716	36518716	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:36518716G>T	ENST00000526995.1	-	4	794	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	183	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CTGTCTCCTTGGACAATCCTT	0.383																																						ENST00000526995.1	0.350000	0.080000	2.600000e-01	1.200000e-01	0.180000	0.200005	0.180000	0.180000																										0				27						c.(547-549)cCa>cAa		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							85.0	85.0	85.0					11																	36518716		2202	4298	6500	SO:0001583	missense	7189	0	0					g.chr11:36518716G>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.548C>A	chr11.hg19:g.36518716G>T	ENSP00000433623:p.Pro183Gln	0					TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q|TRAF6_ENST00000529150.1_5'Flank	p.P183Q	NM_004620.3	NP_004611.1	1	2	3	2.026526	Q9Y4K3	TRAF6_HUMAN		4	794	-	all_lung(20;0.211)	all_hematologic(20;0.107)	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	0	1	hg19	c.548C>A	CCDS7901.1	0	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231445	0.39399	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.32023	1.47;1.47	5.49	4.58	0.56647	5.49	4.58	0.56647	Zinc finger, TRAF-type (1);	0.202993	0.47093	D	0.000247	T	0.25494	0.0620	L	0.58428	1.81	0.45806	D	0.99868	P	0.40266	0.71	B	0.31442	0.13	T	0.06075	-1.0847	10	0.13470	T	0.59	-14.1184	14.391	0.66978	0.0711:0.0:0.9289:0.0	.	183	Q9Y4K3	TRAF6_HUMAN	Q	183	ENSP00000433623:P183Q;ENSP00000337853:P183Q	ENSP00000337853:P183Q	P	-	2	0	0	TRAF6	36475292	36475292	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	1.971000	0.40530	1.325000	0.45301	0.650000	0.86243	CCA	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.383	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	0	0	1	2	2	2	2	0	0	0	0	68	68	68	67	1	1.890000	-2.868269	1	0.230000	NM_145803		0	8	8	0	395	392	0		1	0		0	0	68	0	0	0.989204	1.375718e-02	0	0	0	8	0	8	395
FOLH1	2346	broad.mit.edu	37	11	49208253	49208253	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:49208253G>T	ENST00000256999.2	-	5	842	c.582C>A	c.(580-582)atC>atA	p.I194I	FOLH1_ENST00000533034.1_Silent_p.I179I|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.I194I|FOLH1_ENST00000340334.7_Silent_p.I179I	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	194				I -> V (in Ref. 9; AAZ66619). {ECO:0000305}.	folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CAGAGCAATTGATTTTCATGT	0.363																																						ENST00000256999.2	0.290000	0.080000	2.200000e-01	1.100000e-01	0.160000	0.177281	0.160000	0.160000																										0				60						c.(580-582)atC>atA		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)						75.0	81.0	79.0					11																	49208253		2201	4298	6499	SO:0001819	synonymous_variant	2346	0	0					g.chr11:49208253G>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.582C>A	chr11.hg19:g.49208253G>T		0					FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Silent_p.I179I|FOLH1_ENST00000533034.1_Silent_p.I179I|FOLH1_ENST00000356696.3_Silent_p.I194I	p.I194I	NM_004476.1	NP_004467.1	1	2	3	2.026526	Q04609	FOLH1_HUMAN		5	842	-			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	0	1	hg19	c.582C>A	CCDS7946.1	0																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	0	0	1	2	15	2	2	0	0	0	1	137	137	137	142	1	1.890000	-3.094881	1	0.230000	NM_004476		0	11	10	0	602	588	0		0	0		0	0	137	0	0	0.253996	1.049720e-02	0	0	0	8	0	11	602
OR5T1	390155	broad.mit.edu	37	11	56043180	56043180	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56043180C>A	ENST00000313033.2	+	1	152	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	22						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(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTGAAGTCACCATGTTTATAT	0.299																																						ENST00000313033.2	0.250000	0.060000	1.900000e-01	9.000000e-02	0.130000	0.152770	0.130000	0.140000																										0				43						c.(64-66)acC>acA		olfactory receptor, family 5, subfamily T, member 1							93.0	103.0	100.0					11																	56043180		2201	4294	6495	SO:0001819	synonymous_variant	390155	0	0					g.chr11:56043180C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.66C>A	chr11.hg19:g.56043180C>A		0						p.T22T	NM_001004745.1	NP_001004745.1	1	2	3	2.026526	Q8NG75	OR5T1_HUMAN		1	152	+	Esophageal squamous(21;0.00448)		B2RNM9	Silent	SNP	ENST00000313033.2	0	1	hg19	c.66C>A	CCDS31525.1	0																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.299	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	0	0	1	2	2	2	2	0	0	0	0	161	161	161	161	1	1.890000	-1.987976	0	0.230000	NM_001004745		0	11	11	0	708	700	0		1			0	0	161	0	0	0.998237	0	0	0	0	0	0	11	708
OR8H1	219469	broad.mit.edu	37	11	56058331	56058331	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56058331C>A	ENST00000313022.2	-	1	235	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TAACTGAGGTCAATAAATGAC	0.413																																						ENST00000313022.2	0.180000	0.040000	1.300000e-01	7.000000e-02	0.090000	0.112975	0.090000	0.100000																										0				43						c.(208-210)Gac>Tac		olfactory receptor, family 8, subfamily H, member 1							274.0	262.0	266.0					11																	56058331		2201	4296	6497	SO:0001583	missense	219469	0	0					g.chr11:56058331C>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.208G>T	chr11.hg19:g.56058331C>A	ENSP00000323595:p.Asp70Tyr	0						p.D70Y	NM_001005199.1	NP_001005199.1	1	2	3	2.026526	Q8NGG4	OR8H1_HUMAN		1	235	-	Esophageal squamous(21;0.00448)		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	0	1	hg19	c.208G>T	CCDS31526.1	0	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920585	0.33908	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.01185	5.21	3.94	3.94	0.45596	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.11879	0.0289	H	0.96777	3.88	0.39098	D	0.961238	D	0.71674	0.998	D	0.66979	0.948	T	0.25606	-1.0127	10	0.87932	D	0	.	16.4739	0.84127	0.0:1.0:0.0:0.0	.	70	Q8NGG4	OR8H1_HUMAN	Y	70;66	ENSP00000323595:D70Y	ENSP00000323595:D70Y	D	-	1	0	0	OR8H1	55814907	55814907	0.997000	0.39634	0.932000	0.37286	0.004000	0.04260	4.149000	0.58091	2.147000	0.66899	0.544000	0.68410	GAC	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.413	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	0	0	1	2	2	2	2	0	0	0	0	333	333	333	333	1	1.890000	-2.402354	0	0.230000	NM_001005199		0	12	11	0	1070	1049	0		1			0	0	333	0	0	0.998989	0	0	0	0	0	0	12	1070
NAALAD2	10003	broad.mit.edu	37	11	89914807	89914807	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:89914807G>T	ENST00000534061.1	+	17	2108	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	NAALAD2_ENST00000321955.4_Silent_p.V593V|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	626					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCTGCTGTGAAAAACTTCT	0.318																																						ENST00000534061.1	0.300000	0.080000	2.200000e-01	1.100000e-01	0.160000	0.180596	0.160000	0.160000																										0				59						c.(1876-1878)gtG>gtT		N-acetylated alpha-linked acidic dipeptidase 2							33.0	37.0	36.0					11																	89914807		2196	4290	6486	SO:0001819	synonymous_variant	10003	0	0					g.chr11:89914807G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1878G>T	chr11.hg19:g.89914807G>T		0					NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.V593V	p.V626V	NM_005467.3	NP_005458.1	1	2	3	2.026526	Q9Y3Q0	NALD2_HUMAN		17	2108	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	0	1	hg19	c.1878G>T	CCDS8288.1	0																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.318	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	0	0	1	2	2	2	2	0	0	0	0	130	130	130	130	1	1.890000	-2.864357	1	0.230000	NM_005467		0	11	10	0	590	584	0		1			0	0	130	0	0	0.998243	0	0	0	0	0	0	11	590
HTR3A	3359	broad.mit.edu	37	11	113856786	113856786	+	Silent	SNP	C	C	A	rs375398394		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:113856786C>A	ENST00000504030.2	+	6	1039	c.594C>A	c.(592-594)tcC>tcA	p.S198S	HTR3A_ENST00000355556.2_Silent_p.S204S|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000299961.5_Silent_p.S183S|HTR3A_ENST00000375498.2_Silent_p.S204S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	198					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	AGGTGAAATCCGACAGGAGTG	0.502																																						ENST00000504030.2	0.190000	0.040000	1.400000e-01	6.000000e-02	0.090000	0.113847	0.090000	0.100000																										0				36						c.(592-594)tcC>tcA		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)						190.0	199.0	196.0					11																	113856786		2201	4296	6497	SO:0001819	synonymous_variant	3359	0	0					g.chr11:113856786C>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.594C>A	chr11.hg19:g.113856786C>A		0					HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000355556.2_Silent_p.S204S|HTR3A_ENST00000375498.2_Silent_p.S204S|HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000299961.5_Silent_p.S183S	p.S198S			1	2	3	2.026526	P46098	5HT3A_HUMAN		6	1039	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	0	1	hg19	c.594C>A		0																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.502	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	0	0	1	2	2	2	2	0	0	0	0	237	237	237	236	1	1.890000	-1.759563	0	0.230000	NM_000869		0	10	12	0	897	885	0		1	0		0	0	237	0	0	0.996708	0	0	0	0	1	0	10	897
GAS2L3	283431	broad.mit.edu	37	12	101016096	101016096	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:101016096G>T	ENST00000539410.1	+	8	1078	c.692G>T	c.(691-693)cGa>cTa	p.R231L	GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318																																						ENST00000539410.1	1.000000	0.060000	2.100000e-01	1.000000e-01	0.140000	0.190546	0.140000	0.140000																										0				35						c.(691-693)cGa>cTa		growth arrest-specific 2 like 3							129.0	129.0	129.0					12																	101016096		2203	4299	6502	SO:0001583	missense	283431	0	0					g.chr12:101016096G>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.692G>T	chr12.hg19:g.101016096G>T	ENSP00000439672:p.Arg231Leu	0					GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L|GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127L	p.R231L			1	2	3	2.044481	Q86XJ1	GA2L3_HUMAN		8	1078	+			B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	0	1	hg19	c.692G>T	CCDS9079.1	0	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042073	0.75732	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26660	1.73;1.73;1.72;1.73	5.9	5.9	0.94986	5.9	5.9	0.94986	Growth-arrest-specific protein 2 domain (4);	0.189964	0.43919	D	0.000502	T	0.41558	0.1164	L	0.31476	0.935	0.35362	D	0.78831	D	0.60575	0.988	D	0.66351	0.943	T	0.44143	-0.9347	10	0.62326	D	0.03	-14.7321	20.2723	0.98479	0.0:0.0:1.0:0.0	.	231	Q86XJ1	GA2L3_HUMAN	L	231;231;127;231	ENSP00000266754:R231L;ENSP00000448955:R231L;ENSP00000442406:R127L;ENSP00000439672:R231L	ENSP00000266754:R231L	R	+	2	0	0	GAS2L3	99540227	99540227	1.000000	0.71417	0.991000	0.47740	0.648000	0.38561	3.905000	0.56333	2.793000	0.96121	0.563000	0.77884	CGA	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.318	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	0	0	1	2	2	2	2	0	0	0	0	127	127	127	126	1	1.890000	-2.585698	1	0.230000	NM_174942		0	10	10	0	624	616	0		1	0		0	0	127	0	0	0.996709	0	0	0	0	1	0	10	624
ACACB	32	broad.mit.edu	37	12	109610126	109610126	+	Missense_Mutation	SNP	C	C	A	rs199655635		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:109610126C>A	ENST00000338432.7	+	6	1201	c.1082C>A	c.(1081-1083)cCg>cAg	p.P361Q	ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	361	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCTAAACTTCCGGAGCTGCTG	0.517																																						ENST00000338432.7	1.000000	0.040000	1.400000e-01	6.000000e-02	0.090000	0.142297	0.090000	0.090000																										0				95						c.(1081-1083)cCg>cAg		acetyl-CoA carboxylase beta	Adenine(DB00173)|Biotin(DB00121)						231.0	247.0	242.0					12																	109610126		2203	4300	6503	SO:0001583	missense	32	0	0					g.chr12:109610126C>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1082C>A	chr12.hg19:g.109610126C>A	ENSP00000341044:p.Pro361Gln	0					ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q	p.P361Q			1	2	3	2.044481	O00763	ACACB_HUMAN		6	1201	+			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	0	1	hg19	c.1082C>A	CCDS31898.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.155578	0.94686	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.92545	-3.06;-3.06;-3.06	5.23	5.23	0.72850	5.23	5.23	0.72850	ATP-grasp fold, subdomain 2 (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97700	1.0184	10	0.87932	D	0	.	18.7639	0.91864	0.0:1.0:0.0:0.0	.	361	O00763	ACACB_HUMAN	Q	361	ENSP00000341044:P361Q;ENSP00000367079:P361Q;ENSP00000367085:P361Q	ENSP00000341044:P361Q	P	+	2	0	0	ACACB	108094509	108094509	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.776000	0.85560	2.607000	0.88179	0.655000	0.94253	CCG	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.517	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	0	0	1	2	2	2	2	0	0	0	0	240	240	240	238	1	1.890000	-1.777990	0	0.230000	NM_001093		0	9	10	0	861	838	0		1	0		0	0	240	0	0	0.993417	4.836505e-03	0	0	0	9	0	9	861
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	0.760000	0.340000	6.500000e-01	4.300000e-01	0.530000	0.548105	0.530000	0.530000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	chr12.hg19:g.25398285C>G	ENSP00000256078:p.Gly12Arg	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	p.G12R	NM_033360.2	NP_203524.1	0	1	1	1.799347	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	97	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.34G>C	CCDS8703.1	0	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	0	KRAS	25289552	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	72	72	72	71	1	1.890000	-7.220598	1	0.230000	NM_033360		1253	22	22	6780	292	287	0	1	1	1	1	0	0	72	430	1	0.999999	2.444290e-01	1	4	47	9	369	22	292
ADAMTS20	80070	broad.mit.edu	37	12	43825211	43825211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:43825211G>T	ENST00000389420.3	-	22	3184	c.3185C>A	c.(3184-3186)tCa>tAa	p.S1062*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1062	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTGGTACTTGAATTACAGAA	0.433																																						ENST00000389420.3	1.000000	0.070000	2.400000e-01	1.100000e-01	0.160000	0.211459	0.160000	0.160000																										0				95						c.(3184-3186)tCa>tAa		ADAM metallopeptidase with thrombospondin type 1 motif, 20							167.0	145.0	152.0					12																	43825211		2203	4300	6503	SO:0001587	stop_gained	80070	0	0					g.chr12:43825211G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3185C>A	chr12.hg19:g.43825211G>T	ENSP00000374071:p.Ser1062*	0					ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*	p.S1062*	NM_025003.3	NP_079279.3	1	2	3	2.044481	P59510	ATS20_HUMAN		22	3184	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	0	1	hg19	c.3185C>A	CCDS31778.2	0	.	.	.	.	.	.	.	.	.	.	g	37	6.446143	0.97572	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	3.97	3.06	0.35304	3.97	3.06	0.35304	.	0.504438	0.16887	N	0.195457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.0962	0.30829	0.253:0.0:0.747:0.0	.	.	.	.	X	1062;228;216;1062;1062	.	ENSP00000374068:S1062X	S	-	2	0	0	ADAMTS20	42111478	42111478	0.973000	0.33851	0.280000	0.24747	0.557000	0.35523	1.659000	0.37387	2.140000	0.66376	0.651000	0.88453	TCA	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.433	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	0	0	1	2	2	2	2	0	0	0	0	130	130	130	129	1	1.890000	-2.803499	1	0.230000	NM_025003		0	9	9	0	493	489	0		1			0	0	130	0	0	0.994087	0	0	0	0	0	0	9	493
SLC16A7	9194	broad.mit.edu	37	12	60169011	60169011	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:60169011G>T	ENST00000261187.4	+	4	1099	c.935G>T	c.(934-936)cGa>cTa	p.R312L	SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	312					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.R312Q(1)|p.R312L(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATTCGACCTCGAATTCAGTAC	0.423																																						ENST00000261187.4	1.000000	0.060000	1.900000e-01	9.000000e-02	0.130000	0.179553	0.130000	0.130000																										2	Substitution - Missense(2)	p.R312Q(1)|p.R312L(1)	large_intestine(1)|lung(1)	30						c.(934-936)cGa>cTa		solute carrier family 16 (monocarboxylate transporter), member 7	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)						144.0	144.0	144.0					12																	60169011		2203	4300	6503	SO:0001583	missense	9194	1	121412	36				g.chr12:60169011G>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.935G>T	chr12.hg19:g.60169011G>T	ENSP00000261187:p.Arg312Leu	0					SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L	p.R312L	NM_004731.4	NP_004722.2	1	2	3	2.044481	O60669	MOT2_HUMAN		4	1099	+			Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	0	1	hg19	c.935G>T	CCDS8961.1	0	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710851	0.68730	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.76	5.76	0.90799	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.261657	0.32533	N	0.005972	D	0.87071	0.6086	L	0.52364	1.645	0.43283	D	0.995255	D	0.65815	0.995	D	0.70935	0.971	D	0.85382	0.1120	9	.	.	.	.	11.3564	0.49617	0.1093:0.0:0.8907:0.0	.	312	O60669	MOT2_HUMAN	L	312;312;312;312;312;213	ENSP00000449547:R312L;ENSP00000448071:R312L;ENSP00000448742:R312L;ENSP00000446722:R312L;ENSP00000261187:R312L;ENSP00000443731:R213L	.	R	+	2	0	0	SLC16A7	58455278	58455278	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.668000	0.54554	2.880000	0.98712	0.650000	0.86243	CGA	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.423	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	0	0	1	2	14	2	2	0	0	0	1	199	199	199	195	1	1.890000	-2.508910	1	0.230000	NM_004731		0	10	10	0	677	671	0		0	0		0	0	199	0	0	0.259313	2.658502e-03	0	0	0	5	0	10	677
CAPS2	84698	broad.mit.edu	37	12	75678746	75678746	+	Silent	SNP	G	G	T	rs201652520		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:75678746G>T	ENST00000409445.3	-	16	1763	c.1567C>A	c.(1567-1569)Cga>Aga	p.R523R	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000442339.2_Silent_p.R113R|CAPS2_ENST00000393284.3_Silent_p.R291R	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	523	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTTACCTTTCGAACATATGAT	0.274																																						ENST00000409445.3	1.000000	0.100000	3.100000e-01	1.500000e-01	0.210000	0.262796	0.210000	0.210000																										0				10						c.(1567-1569)Cga>Aga		calcyphosine 2							90.0	80.0	84.0					12																	75678746		2201	4300	6501	SO:0001819	synonymous_variant	84698	0	0					g.chr12:75678746G>T	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1567C>A	chr12.hg19:g.75678746G>T		0					CAPS2_ENST00000393284.3_Silent_p.R291R|CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Silent_p.R113R	p.R523R	NM_032606.3	NP_115995.2	1	2	3	2.044481	Q9BXY5	CAYP2_HUMAN		16	1763	-			Q6PH84|Q8N242|Q8NAY5	Silent	SNP	ENST00000409445.3	0	1	hg19	c.1567C>A	CCDS9008.2	0																																																																																								0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.274	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2	0	0	1	2	2	2	2	0	0	0	0	94	94	94	94	1	1.890000	-3.131499	1	0.230000			0	10	10	0	410	406	0		1	0		0	0	94	0	0	0.996807	7.394709e-04	0	0	0	2	0	10	410
SBNO1	55206	broad.mit.edu	37	12	123794299	123794299	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:123794299G>T	ENST00000602398.1	-	26	3527	c.3400C>A	c.(3400-3402)Caa>Aaa	p.Q1134K	SBNO1_ENST00000420886.2_Missense_Mutation_p.Q1134K|SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1134					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTGGCATTTTGAACAACTGCA	0.383																																						ENST00000602398.1	1.000000	0.080000	2.100000e-01	1.100000e-01	0.150000	0.198448	0.150000	0.150000																										0				62						c.(3400-3402)Caa>Aaa		strawberry notch homolog 1 (Drosophila)							146.0	144.0	145.0					12																	123794299		2203	4300	6503	SO:0001583	missense	55206	0	0					g.chr12:123794299G>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3400C>A	chr12.hg19:g.123794299G>T	ENSP00000473665:p.Gln1134Lys	0					SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000420886.2_Missense_Mutation_p.Q1134K|SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K	p.Q1134K			1	2	3	2.044481	A3KN83	SBNO1_HUMAN		26	3527	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	0	1	hg19	c.3400C>A	CCDS53844.1	0	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682710	0.29872	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.28255	1.62;1.62	5.3	4.4	0.53042	5.3	4.4	0.53042	.	0.072967	0.56097	D	0.000032	T	0.18467	0.0443	N	0.14661	0.345	0.48632	D	0.999684	B;B;B	0.33777	0.425;0.372;0.005	B;B;B	0.31812	0.136;0.083;0.011	T	0.07539	-1.0767	10	0.26408	T	0.33	-15.4955	14.3194	0.66476	0.0732:0.0:0.9268:0.0	.	1134;1133;245	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	K	1134;1133	ENSP00000387361:Q1134K;ENSP00000267176:Q1133K	ENSP00000267176:Q1133K	Q	-	1	0	0	SBNO1	122360252	122360252	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.590000	0.61013	2.471000	0.83476	0.467000	0.42956	CAA	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.383	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	0	0	1	2	2	2	2	0	0	0	0	195	195	195	194	1	1.890000	-2.227783	0	0.230000	NM_018183		0	14	12	0	807	789	0		1	0		0	0	195	0	0	0.999706	2.354374e-02	0	0	0	13	0	14	807
KDELC1	79070	broad.mit.edu	37	13	103443642	103443642	+	Missense_Mutation	SNP	C	C	A	rs565697033		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103443642C>A	ENST00000376004.4	-	5	1147	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	271						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCAGTCAAATCGTACGTAGGC	0.453																																						ENST00000376004.4	0.160000	0.050000	1.300000e-01	7.000000e-02	0.090000	0.104912	0.090000	0.100000																										0				19						c.(811-813)Gat>Tat		KDEL (Lys-Asp-Glu-Leu) containing 1							260.0	276.0	271.0					13																	103443642		2203	4300	6503	SO:0001583	missense	79070	0	0					g.chr13:103443642C>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.811G>T	chr13.hg19:g.103443642C>A	ENSP00000365172:p.Asp271Tyr	0					KDELC1_ENST00000460338.1_5'UTR	p.D271Y	NM_024089.2	NP_076994.2	0	1	1	2.023901	Q6UW63	KDEL1_HUMAN		5	1147	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	0	1	hg19	c.811G>T	CCDS9504.1	0	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078147	0.76528	.	.	ENSG00000134901	ENST00000376004	T	0.24723	1.84	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61262	-0.7098	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	271	Q6UW63	KDEL1_HUMAN	Y	271	ENSP00000365172:D271Y	ENSP00000365172:D271Y	D	-	1	0	0	KDELC1	102241643	102241643	1.000000	0.71417	0.884000	0.34674	0.466000	0.32739	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAT	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.453	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1	0	0	1	2	14	2	2	1	1	1	1	352	352	352	349	1	1.890000	-2.277407	0	0.230000			0	14	13	0	1221	1197	0		0	0		1	0	352	0	0	0.551847	6.585981e-02	0	0	0	34	0	14	1221
COL4A2	1284	broad.mit.edu	37	13	110960263	110960263	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:110960263C>A	ENST00000360467.5	+	2	319	c.13C>A	c.(13-15)Cag>Aag	p.Q5K	COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	5					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGGAGAGACCAGCGCGCGGT	0.662																																						ENST00000360467.5	1.000000	0.720000	1	8.600000e-01	0.990000	0.952557	0.990000	1.000000																										0				80						c.(13-15)Cag>Aag		collagen, type IV, alpha 2							25.0	32.0	29.0					13																	110960263		1977	4142	6119	SO:0001583	missense	1284	0	0					g.chr13:110960263C>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.13C>A	chr13.hg19:g.110960263C>A	ENSP00000353654:p.Gln5Lys	0					COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank	p.Q5K	NM_001846.2	NP_001837.2	0	1	1	2.023901	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)	2	319	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	1	1	hg19	c.13C>A	CCDS41907.1	1	.	.	.	.	.	.	.	.	.	.	C	3.138	-0.176863	0.06380	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.90676	-2.71;-2.69	3.37	2.41	0.29592	3.37	2.41	0.29592	.	.	.	.	.	T	0.74943	0.3783	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.62388	-0.6865	9	0.02654	T	1	.	7.2031	0.25891	0.2652:0.7348:0.0:0.0	.	5	P08572	CO4A2_HUMAN	K	5	ENSP00000383027:Q5K;ENSP00000353654:Q5K	ENSP00000257309:Q5K	Q	+	1	0	0	COL4A2	109758264	109758264	0.001000	0.12720	0.007000	0.13788	0.117000	0.20001	0.298000	0.19120	1.882000	0.54519	0.561000	0.74099	CAG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.662	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	1	0	1	2	2	2	2	0	0	0	0	85	85	85	83	1	1.890000	-20.000000	1	0.230000	NM_001846		0	30	29	0	221	213	1		1	0		0	0	85	0	0	1.000000	1	0	0	0	287	0	30	221
MLNR	2862	broad.mit.edu	37	13	49796387	49796387	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:49796387C>A	ENST00000218721.1	+	2	1113	c.1113C>A	c.(1111-1113)ctC>ctA	p.L371L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	371					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACTGCTGCTCGCAAGGAAGT	0.547																																						ENST00000218721.1	0.210000	0.050000	1.600000e-01	8.000000e-02	0.110000	0.124755	0.110000	0.120000																										0				14						c.(1111-1113)ctC>ctA		motilin receptor							81.0	81.0	81.0					13																	49796387		2203	4300	6503	SO:0001819	synonymous_variant	2862	0	0					g.chr13:49796387C>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1113C>A	chr13.hg19:g.49796387C>A		0					MLNR_ENST00000398307.1_3'UTR	p.L371L	NM_001507.1	NP_001498.1	0	1	1	2.023901	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	2	1113	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		Silent	SNP	ENST00000218721.1	0	1	hg19	c.1113C>A	CCDS9414.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.547	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	0	0	1	2	2	2	2	0	0	0	0	186	186	186	184	1	1.890000	-3.016190	1	0.230000	NM_001507		0	9	9	0	681	670	0		1			0	0	186	0	0	0.993819	0	0	0	0	0	0	9	681
SUGT1	10910	broad.mit.edu	37	13	53231718	53231718	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:53231718C>A	ENST00000343788.6	+	3	230	c.148C>A	c.(148-150)Caa>Aaa	p.Q50K	SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.8_Missense_Mutation_p.Q50K	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	50					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GTATTATTGTCAAAGAGCTTA	0.353																																						ENST00000343788.6	0.350000	0.080000	2.700000e-01	1.300000e-01	0.190000	0.208538	0.190000	0.190000																										0				8						c.(148-150)Caa>Aaa		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							106.0	93.0	97.0					13																	53231718		2203	4300	6503	SO:0001583	missense	10910	0	0					g.chr13:53231718C>A	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.148C>A	chr13.hg19:g.53231718C>A	ENSP00000367208:p.Gln50Lys	0					SUGT1_ENST00000310528.8_Missense_Mutation_p.Q50K|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR	p.Q50K	NM_001130912.1	NP_001124384.1	0	1	1	2.023901	Q9Y2Z0	SUGT1_HUMAN		3	230	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	0	1	hg19	c.148C>A	CCDS45050.1	0	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383544	0.42207	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	T;T	0.59364	0.27;0.27	4.21	4.21	0.49690	4.21	4.21	0.49690	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.059373	0.64402	D	0.000002	T	0.43433	0.1247	N	0.21508	0.67	0.80722	D	1	P;P	0.36599	0.56;0.459	B;B	0.40659	0.336;0.175	T	0.37079	-0.9721	10	0.02654	T	1	-2.4714	15.6949	0.77488	0.0:1.0:0.0:0.0	.	50;50	Q9Y2Z0;Q9Y2Z0-2	SUGT1_HUMAN;.	K	50	ENSP00000367208:Q50K;ENSP00000308067:Q50K	ENSP00000308067:Q50K	Q	+	1	0	0	SUGT1	52129719	52129719	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.484000	0.66844	2.047000	0.60756	0.467000	0.42956	CAA	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.353	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2	0	0	1	2	2	2	2	0	0	0	0	72	72	72	71	1	1.890000	-3.125189	1	0.230000			0	8	8	0	361	352	0		1	0		0	0	72	0	0	0.988447	6.346244e-01	0	0	0	94	0	8	361
DACH1	1602	broad.mit.edu	37	13	72204773	72204773	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:72204773G>T	ENST00000359684.2	-	3	1046	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	DACH1_ENST00000313174.7_Silent_p.I349I|DACH1_ENST00000305425.4_Silent_p.I349I|DACH1_ENST00000354591.4_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	349	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTCTAATTTGATTTTTTTCA	0.408																																						ENST00000359684.2	0.250000	0.080000	2.100000e-01	1.100000e-01	0.150000	0.165764	0.150000	0.160000																										0				41						c.(1045-1047)atC>atA		dachshund family transcription factor 1							196.0	176.0	182.0					13																	72204773		1840	4092	5932	SO:0001819	synonymous_variant	1602	0	0					g.chr13:72204773G>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1047C>A	chr13.hg19:g.72204773G>T		0					DACH1_ENST00000305425.4_Silent_p.I349I|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Silent_p.I349I	p.I349I			0	1	1	2.023901	Q9UI36	DACH1_HUMAN		3	1046	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	0	1	hg19	c.1047C>A		0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.408	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	0	0	1	2	2	2	2	0	0	0	0	238	238	238	238	1	1.890000	-1.993383	0	0.230000	NM_004392		0	15	17	0	817	806	0		1	0		0	0	238	0	0	0.999859	3.905857e-04	0	0	0	2	0	15	817
UPF3A	65110	broad.mit.edu	37	13	115057115	115057115	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:115057115C>A	ENST00000375299.3	+	7	750	c.694C>A	c.(694-696)Cga>Aga	p.R232R	UPF3A_ENST00000351487.5_Silent_p.R199R|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	232					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R232*(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TTAGAGAATTCgagaagagaa	0.448																																						ENST00000375299.3	0.230000	0.070000	1.900000e-01	1.000000e-01	0.140000	0.149339	0.140000	0.140000																										1	Substitution - Nonsense(1)	p.R232*(1)	large_intestine(1)	16						c.(694-696)Cga>Aga		UPF3 regulator of nonsense transcripts homolog A (yeast)							65.0	65.0	65.0					13																	115057115		2203	4300	6503	SO:0001819	synonymous_variant	65110	0	0					g.chr13:115057115C>A	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.694C>A	chr13.hg19:g.115057115C>A		0					UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Silent_p.R199R	p.R232R	NM_023011.3	NP_075387.1	0	1	1	2.023901	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	7	750	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	0	1	hg19	c.694C>A	CCDS9543.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.448	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2	0	0	1	2	17	2	2	0	0	0	1	181	181	181	180	1	1.890000	-2.431920	0	0.230000			0	14	14	0	852	839	0		0	0		0	0	181	0	0	0.342963	5.689728e-02	0	0	0	22	0	14	852
ACOT4	122970	broad.mit.edu	37	14	74060538	74060538	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:74060538C>A	ENST00000326303.4	+	2	844	c.590C>A	c.(589-591)cCc>cAc	p.P197H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	197					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAAGATCTCCCCAATAACATG	0.468																																						ENST00000326303.4	0.190000	0.050000	1.500000e-01	7.000000e-02	0.110000	0.119550	0.110000	0.110000																										0				8						c.(589-591)cCc>cAc		acyl-CoA thioesterase 4							158.0	148.0	151.0					14																	74060538		2203	4300	6503	SO:0001583	missense	122970	0	0					g.chr14:74060538C>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.590C>A	chr14.hg19:g.74060538C>A	ENSP00000323071:p.Pro197His	0						p.P197H	NM_152331.3	NP_689544.3	0	1	1	2.017727	Q8N9L9	ACOT4_HUMAN		2	844	+			Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	0	1	hg19	c.590C>A	CCDS9817.1	0	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295226	0.60086	.	.	ENSG00000177465	ENST00000326303	T	0.50277	0.75	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.053368	0.85682	D	0.000000	T	0.76564	0.4005	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.83418	0.0031	10	0.87932	D	0	-8.5859	13.022	0.58794	0.0:0.9195:0.0:0.0805	.	197	Q8N9L9	ACOT4_HUMAN	H	197	ENSP00000323071:P197H	ENSP00000323071:P197H	P	+	2	0	0	ACOT4	73130291	73130291	0.997000	0.39634	0.887000	0.34795	0.487000	0.33371	4.982000	0.63825	2.394000	0.81467	0.491000	0.48974	CCC	0.226442		TCGA-HZ-A77Q-01A-11D-A36O-08	0.468	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	0	0	1	2	2	2	2	0	0	0	0	210	210	210	208	1	1.890000	-1.976808	0	0.230000	NM_152331		0	10	10	0	781	765	0		1	0		0	0	210	0	0	0.996559	3.010205e-03	0	0	0	6	0	10	781
NRXN3	9369	broad.mit.edu	37	14	79434626	79434626	+	Missense_Mutation	SNP	C	C	T	rs140301017		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:79434626C>T	ENST00000554719.1	+	11	2451	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTGAATGGACGCCTGCCAGA	0.522																																						ENST00000554719.1	1.000000	0.800000	1	9.300000e-01	0.990000	0.975621	0.990000	1.000000																										0				104						c.(1960-1962)Cgc>Tgc		neurexin 3		C	CYS/ARG	0,4406		0,0,2203	136.0	116.0	122.0		1960	6.0	1.0	14	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	654/1062	79434626	1,13005	2203	4300	6503	SO:0001583	missense	9369	3	121412	39				g.chr14:79434626C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1960C>T	chr14.hg19:g.79434626C>T	ENSP00000451648:p.Arg654Cys	0					NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	p.R654C	NM_004796.4	NP_004787.2	0	1	1	2.017727	Q9HDB5	NRX3B_HUMAN		11	2451	+		Renal(4;0.00876)	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	1	1	hg19	c.1960C>T	CCDS9870.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.587372	0.96590	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76968	-1.06;-1.06	6.03	6.03	0.97812	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.813	D;B	0.91635	0.999;0.076	D	0.87571	0.2478	8	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1027;654	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	C	1027;1016;654;654	ENSP00000451648:R654C;ENSP00000338349:R654C	.	R	+	1	0	0	NRXN3	78504379	78504379	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	CGC	0.226442		TCGA-HZ-A77Q-01A-11D-A36O-08	0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	1	0	0	2	2	2	2	0	0	0	0	82	82	82	82	1	1.890000	-18.250690	1	0.230000	NM_001105250		0	43	43	0	300	296	1		1			0	0	82	0	0	1.000000	0	0	0	0	0	0	43	300
HHIPL1	84439	broad.mit.edu	37	14	100123403	100123403	+	Silent	SNP	C	C	T	rs140994822	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	323					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16278	0.0		0.0	False		,,,				2504	0.0					ENST00000330710.5	1.000000	0.820000	1	8.900000e-01	0.960000	0.956347	0.960000	1.000000																										0				15						c.(967-969)gaC>gaT		HHIP-like 1		C	,	6,4400		0,6,2197	242.0	242.0	242.0		969,969	-6.3	0.8	14	dbSNP_134	242	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	323/783,323/609	100123403	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84439	15	121412	49				g.chr14:100123403C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.969C>T	chr14.hg19:g.100123403C>T		0					HHIPL1_ENST00000357223.2_Silent_p.D323D	p.D323D	NM_001127258.1	NP_001120730.1	0	1	1	2.017727	Q96JK4	HIPL1_HUMAN		3	1067	+		Melanoma(154;0.128)	A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	1	1	hg19	c.969C>T	CCDS45162.1	1																																																																																								0.226442		TCGA-HZ-A77Q-01A-11D-A36O-08	0.512	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	0	0	0	2	13	2	2	1	1	1	1	411	411	411	409	1	1.890000	-20.000000	1	0.230000	XM_041566		0	154	148	0	1216	1169	0		1	0		1	0	411	0	0	1.000000	7.005874e-01	0	0	0	21	0	154	1216
OCA2	4948	broad.mit.edu	37	15	28263683	28263683	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28263683C>T	ENST00000354638.3	-	7	822	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	OCA2_ENST00000353809.5_Missense_Mutation_p.V223M|OCA2_ENST00000382996.2_Missense_Mutation_p.V223M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	223					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTGGAGTCCACGTGGCTGCTA	0.652									Oculocutaneous Albinism																													ENST00000354638.3	1.000000	0.820000	1	9.900000e-01	0.990000	0.988047	0.990000	1.000000																										0				85						c.(667-669)Gtg>Atg		oculocutaneous albinism II							28.0	24.0	26.0					15																	28263683		2203	4300	6503	SO:0001583	missense	4948	0	0		Oculocutaneous Albinism	Familial Cancer Database		g.chr15:28263683C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.667G>A	chr15.hg19:g.28263683C>T	ENSP00000346659:p.Val223Met	0					OCA2_ENST00000382996.2_Missense_Mutation_p.V223M|OCA2_ENST00000353809.5_Missense_Mutation_p.V223M	p.V223M	NM_000275.2	NP_000266.2	1	2	3	2.030134	Q04671	P_HUMAN		7	822	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	1	1	hg19	c.667G>A	CCDS10020.1	1	.	.	.	.	.	.	.	.	.	.	C	4.620	0.115289	0.08831	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000431101	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.54	-10.1	0.00402	5.54	-10.1	0.00402	.	2.689910	0.01503	N	0.017593	T	0.31857	0.0810	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.005;0.007	B;B	0.15484	0.013;0.006	T	0.27054	-1.0085	10	0.33940	T	0.23	4.2318	0.9888	0.01452	0.1922:0.1624:0.2845:0.3609	.	223;223	Q04671-2;Q04671	.;P_HUMAN	M	223	ENSP00000346659:V223M;ENSP00000261276:V223M;ENSP00000372457:V223M;ENSP00000415431:V223M	ENSP00000261276:V223M	V	-	1	0	0	OCA2	25937278	25937278	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.018000	0.03626	-2.789000	0.00357	-0.794000	0.03295	GTG	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.652	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	1	0	0	2	2	2	2	0	0	0	0	27	27	27	27	1	1.890000	-20.000000	1	0.230000	NM_000275		0	17	17	0	94	93	1		1			0	0	27	0	0	0.999977	0	0	0	0	0	0	17	94
HERC2	8924	broad.mit.edu	37	15	28478313	28478313	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28478313G>T	ENST00000261609.7	-	30	4762	c.4654C>A	c.(4654-4656)Cga>Aga	p.R1552R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCGTTCTCGAATTATCTTT	0.383																																						ENST00000261609.7	0.340000	0.110000	2.700000e-01	1.500000e-01	0.200000	0.219862	0.200000	0.200000																										0				204						c.(4654-4656)Cga>Aga		HECT and RLD domain containing E3 ubiquitin protein ligase 2							97.0	102.0	100.0					15																	28478313		2203	4300	6503	SO:0001819	synonymous_variant	8924	0	0					g.chr15:28478313G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4654C>A	chr15.hg19:g.28478313G>T		0						p.R1552R	NM_004667.5	NP_004658.3	1	2	3	2.030134				30	4762	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Silent	SNP	ENST00000261609.7	0	1	hg19	c.4654C>A	CCDS10021.1	0																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	0	1	2	2	2	2	0	0	0	0	163	163	163	163	1	1.890000	-2.936309	1	0.230000	NM_004667		0	15	15	0	637	604	0		1	0		0	0	163	0	0	0.999811	2.005722e-02	0	0	0	9	0	15	637
SLC27A2	11001	broad.mit.edu	37	15	50497538	50497538	+	Missense_Mutation	SNP	G	G	T	rs554769451		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:50497538G>T	ENST00000267842.5	+	4	1182	c.950G>T	c.(949-951)cGg>cTg	p.R317L	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	317					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GAACTGCTTCGGTATTTATGC	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16554	0.0		0.0	False		,,,				2504	0.0					ENST00000267842.5	0.330000	0.100000	2.600000e-01	1.400000e-01	0.190000	0.210706	0.190000	0.190000																										0				25						c.(949-951)cGg>cTg		solute carrier family 27 (fatty acid transporter), member 2							143.0	117.0	126.0					15																	50497538		2196	4295	6491	SO:0001583	missense	11001	5	121412	41				g.chr15:50497538G>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.950G>T	chr15.hg19:g.50497538G>T	ENSP00000267842:p.Arg317Leu	0					SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L|SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L	p.R317L	NM_003645.3	NP_003636.2	1	2	3	2.030134	O14975	S27A2_HUMAN		4	1182	+		all_lung(180;0.00177)	A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	0	1	hg19	c.950G>T	CCDS10133.1	0	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964749	0.74131	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.52754	0.65;0.88;0.88	5.28	3.43	0.39272	5.28	3.43	0.39272	AMP-dependent synthetase/ligase (1);	0.114447	0.64402	D	0.000011	T	0.77611	0.4156	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.989	T	0.81642	-0.0840	10	0.87932	D	0	.	9.6524	0.39906	0.167:0.0:0.833:0.0	.	264;317	Q6PF09;O14975	.;S27A2_HUMAN	L	264;317;82	ENSP00000370289:R264L;ENSP00000267842:R317L;ENSP00000444549:R82L	ENSP00000267842:R317L	R	+	2	0	0	SLC27A2	48284830	48284830	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.907000	0.69908	0.827000	0.34685	-0.251000	0.11542	CGG	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.433	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	0	0	1	2	2	2	2	0	0	0	0	164	164	164	163	1	1.890000	-2.366194	0	0.230000	NM_003645		0	14	13	0	625	617	0		1	0		0	0	164	0	0	0.999730	3.346335e-03	0	0	0	4	0	14	625
MNS1	55329	broad.mit.edu	37	15	56735874	56735874	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:56735874G>T	ENST00000260453.3	-	6	1029	c.865C>A	c.(865-867)Caa>Aaa	p.Q289K	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	289	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TCATTTTCTTGAACTTTTGCC	0.348																																						ENST00000260453.3	0.270000	0.070000	2.000000e-01	1.000000e-01	0.140000	0.164575	0.140000	0.140000																										0				20						c.(865-867)Caa>Aaa		meiosis-specific nuclear structural 1							163.0	160.0	161.0					15																	56735874		2192	4291	6483	SO:0001583	missense	55329	0	0					g.chr15:56735874G>T	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.865C>A	chr15.hg19:g.56735874G>T	ENSP00000260453:p.Gln289Lys	0					TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	p.Q289K	NM_018365.2	NP_060835.1	1	2	3	2.030134	Q8NEH6	MNS1_HUMAN		6	1029	-			Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	0	1	hg19	c.865C>A	CCDS10158.1	0	.	.	.	.	.	.	.	.	.	.	G	4.351	0.064587	0.08388	.	.	ENSG00000138587	ENST00000260453	T	0.08370	3.1	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.324258	0.33364	N	0.004991	T	0.06600	0.0169	L	0.31065	0.9	0.22305	N	0.999212	B	0.06786	0.001	B	0.13407	0.009	T	0.37753	-0.9692	10	0.05833	T	0.94	-8.4625	14.7812	0.69769	0.0:0.0:0.8554:0.1446	.	289	Q8NEH6	MNS1_HUMAN	K	289	ENSP00000260453:Q289K	ENSP00000260453:Q289K	Q	-	1	0	0	MNS1	54523166	54523166	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	3.786000	0.55431	2.529000	0.85273	0.637000	0.83480	CAA	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.348	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	0	0	1	2	16	2	2	1	1	1	1	141	141	141	140	1	1.890000	-2.676535	1	0.230000	NM_018365		0	10	10	0	598	591	0		0	0		1	0	141	0	0	0.152594	9.109130e-03	0	0	0	8	0	10	598
CGNL1	84952	broad.mit.edu	37	15	57731336	57731336	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:57731336C>A	ENST00000281282.5	+	2	1217	c.1139C>A	c.(1138-1140)aCa>aAa	p.T380K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	380	Head.		T -> P (in dbSNP:rs1280395). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.4}.			myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAATTAATACAGATGACAGG	0.443																																						ENST00000281282.5	0.400000	0.090000	2.900000e-01	1.400000e-01	0.200000	0.223560	0.200000	0.200000																										0				60						c.(1138-1140)aCa>aAa		cingulin-like 1							75.0	79.0	77.0					15																	57731336		2192	4292	6484	SO:0001583	missense	84952	0	0					g.chr15:57731336C>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1139C>A	chr15.hg19:g.57731336C>A	ENSP00000281282:p.Thr380Lys	0						p.T380K	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	1	2	3	2.030134	Q0VF96	CGNL1_HUMAN		2	1217	+			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	0	1	hg19	c.1139C>A	CCDS10161.1	0	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322702	0.23994	.	.	ENSG00000128849	ENST00000281282	T	0.40476	1.03	5.79	4.88	0.63580	5.79	4.88	0.63580	.	0.129534	0.35646	N	0.003062	T	0.23806	0.0576	N	0.03608	-0.345	0.21105	N	0.99979	B	0.02656	0.0	B	0.01281	0.0	T	0.27468	-1.0073	10	0.87932	D	0	-8.9807	14.9253	0.70871	0.0:0.9316:0.0:0.0684	.	380	Q0VF96	CGNL1_HUMAN	K	380	ENSP00000281282:T380K	ENSP00000281282:T380K	T	+	2	0	0	CGNL1	55518628	55518628	0.941000	0.31946	0.006000	0.13384	0.196000	0.23810	3.113000	0.50376	1.448000	0.47680	0.655000	0.94253	ACA	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.443	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	0	0	1	2	2	2	2	0	0	0	0	97	97	97	96	1	1.890000	-2.696811	1	0.230000	NM_032866		0	8	8	0	350	345	0		1	0		0	0	97	0	0	0.988945	1.717437e-02	0	0	0	8	0	8	350
MYO9A	4649	broad.mit.edu	37	15	72191285	72191285	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72191285G>T	ENST00000356056.5	-	25	4031	c.3559C>A	c.(3559-3561)Cag>Aag	p.Q1187K	MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1187	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGAACCCTGAATTTCCAGA	0.358																																						ENST00000356056.5	0.170000	0.040000	1.300000e-01	6.000000e-02	0.090000	0.109402	0.090000	0.100000																										0				88						c.(3559-3561)Cag>Aag		myosin IXA							160.0	169.0	166.0					15																	72191285		2199	4297	6496	SO:0001583	missense	4649	0	0					g.chr15:72191285G>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3559C>A	chr15.hg19:g.72191285G>T	ENSP00000348349:p.Gln1187Lys	0					MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K	p.Q1187K	NM_006901.3	NP_008832.2	1	2	3	2.030134	B2RTY4	MYO9A_HUMAN		25	4031	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	0	1	hg19	c.3559C>A	CCDS10239.1	0	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783992	0.16189	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.82893	-1.65;-1.66;-1.65	4.91	1.66	0.24008	4.91	1.66	0.24008	.	.	.	.	.	T	0.61261	0.2333	N	0.17082	0.46	0.24994	N	0.991511	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.50947	-0.8767	9	0.02654	T	1	.	3.1569	0.06508	0.0942:0.1287:0.5011:0.276	.	1168;1187	B2RTY4-2;B2RTY4	.;MYO9A_HUMAN	K	1187;1187;1168	ENSP00000348349:Q1187K;ENSP00000399162:Q1187K;ENSP00000398250:Q1168K	ENSP00000348349:Q1187K	Q	-	1	0	0	MYO9A	69978339	69978339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.069000	0.41481	1.044000	0.40200	0.585000	0.79938	CAG	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	0	0	1	2	2	2	2	0	0	0	0	233	233	233	230	1	1.890000	-2.287399	0	0.230000	NM_006901		0	12	12	0	1109	1092	0		1	0		0	0	233	0	0	0.999020	4.271997e-04	0	0	0	3	0	12	1109
BNC1	646	broad.mit.edu	37	15	83926420	83926420	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:83926420G>A	ENST00000345382.2	-	5	2844	c.2759C>T	c.(2758-2760)gCt>gTt	p.A920V	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.A913V	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	920					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGCAGGCTAGCAAGGCTCTG	0.537																																						ENST00000345382.2	0.930000	0.590000	8.300000e-01	6.600000e-01	0.740000	0.750299	0.740000	0.740000																										0				56						c.(2758-2760)gCt>gTt		basonuclin 1							207.0	200.0	202.0					15																	83926420		2203	4300	6503	SO:0001583	missense	646	0	0					g.chr15:83926420G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2759C>T	chr15.hg19:g.83926420G>A	ENSP00000307041:p.Ala920Val	0					BNC1_ENST00000569704.1_Missense_Mutation_p.A913V|RP11-382A20.4_ENST00000565495.1_RNA	p.A920V	NM_001717.3	NP_001708.3	1	2	3	2.030134	Q01954	BNC1_HUMAN		5	2844	-			Q15840	Missense_Mutation	SNP	ENST00000345382.2	1	1	hg19	c.2759C>T	CCDS10324.1	0	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520519	0.27211	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.44083	0.93	5.93	4.99	0.66335	5.93	4.99	0.66335	.	0.467668	0.23420	N	0.048377	T	0.23330	0.0564	N	0.22421	0.69	0.09310	N	0.999994	B;P	0.39282	0.4;0.666	B;B	0.30029	0.11;0.102	T	0.09885	-1.0654	10	0.19147	T	0.46	-21.1832	10.7119	0.45988	0.0757:0.1342:0.7901:0.0	.	913;920	F5GY04;Q01954	.;BNC1_HUMAN	V	920;913	ENSP00000307041:A920V	ENSP00000307041:A920V	A	-	2	0	0	BNC1	81717424	81717424	0.623000	0.27094	0.936000	0.37596	0.710000	0.40934	1.984000	0.40658	1.454000	0.47793	0.557000	0.71058	GCT	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.537	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	1	0	1	2	2	2	2	0	0	0	0	236	236	236	235	1	1.890000	-18.308170	1	0.230000	NM_001717		0	76	75	0	816	803	0		1	0		0	0	236	0	0	1.000000	0	0	0	0	1	0	76	816
SEC11A	23478	broad.mit.edu	37	15	85224008	85224008	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85224008G>T	ENST00000268220.7	-	4	1007	c.367C>A	c.(367-369)Cga>Aga	p.R123R	SEC11A_ENST00000560266.1_Silent_p.R123R|SEC11A_ENST00000558134.1_Silent_p.R123R|SEC11A_ENST00000455959.3_Silent_p.R97R	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	123					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TAGAGGCCTCGGTCATCAACC	0.408																																						ENST00000268220.7	0.220000	0.050000	1.600000e-01	8.000000e-02	0.110000	0.133834	0.110000	0.120000																										0				1						c.(367-369)Cga>Aga		SEC11 homolog A (S. cerevisiae)							216.0	197.0	203.0					15																	85224008		1860	4094	5954	SO:0001819	synonymous_variant	23478	0	0					g.chr15:85224008G>T	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"""SEC11-like 1 (S. cerevisiae)"""	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.367C>A	chr15.hg19:g.85224008G>T		0					SEC11A_ENST00000560266.1_Silent_p.R123R|SEC11A_ENST00000558134.1_Silent_p.R123R|SEC11A_ENST00000455959.3_Silent_p.R97R	p.R123R	NM_014300.2	NP_055115.1	1	2	3	2.030134	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)	4	1007	-			B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Silent	SNP	ENST00000268220.7	0	1	hg19	c.367C>A	CCDS45340.1	0																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.408	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	0	0	1	2	15	10	2	1	1	1	1	187	187	187	186	1	1.890000	-1.763214	0	0.230000	NM_014300		0	10	9	0	750	735	0		0	0		1	0	187	0	0	0.192277	1.435570e-01	0	0	0	433	0	10	750
PDE8A	5151	broad.mit.edu	37	15	85607643	85607643	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85607643C>A	ENST00000310298.4	+	3	481	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K|PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	77					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GAGATTTCATCAAGATCAACT	0.363																																						ENST00000310298.4	0.320000	0.070000	2.300000e-01	1.100000e-01	0.160000	0.181504	0.160000	0.160000																										0				25						c.(229-231)Caa>Aaa		phosphodiesterase 8A	Caffeine(DB00201)|Ketotifen(DB00920)						130.0	115.0	120.0					15																	85607643		2203	4299	6502	SO:0001583	missense	5151	0	0					g.chr15:85607643C>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.229C>A	chr15.hg19:g.85607643C>A	ENSP00000311453:p.Gln77Lys	0					PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K|PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K	p.Q77K			1	2	3	2.030134	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)	3	481	+	Colorectal(223;0.227)		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	0	1	hg19	c.229C>A	CCDS10336.1	0	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056234	0.36277	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.70631	-0.5;-0.5;-0.46	5.65	4.73	0.59995	5.65	4.73	0.59995	.	0.201377	0.43579	D	0.000552	T	0.58680	0.2139	L	0.29908	0.895	0.37679	D	0.92342	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.001	T	0.56817	-0.7916	10	0.23891	T	0.37	.	14.3705	0.66836	0.0:0.8508:0.1492:0.0	.	77;77	O60658-2;O60658	.;PDE8A_HUMAN	K	77	ENSP00000311453:Q77K;ENSP00000378056:Q77K;ENSP00000340679:Q77K	ENSP00000311453:Q77K	Q	+	1	0	0	PDE8A	83408647	83408647	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.930000	0.48924	1.368000	0.46115	0.511000	0.50034	CAA	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.363	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	0	0	1	2	2	2	2	0	0	0	0	85	85	85	85	1	1.890000	-3.026299	1	0.230000	NM_002605		0	8	8	0	439	433	0		1	0		0	0	85	0	0	0.988906	1.761075e-02	0	0	0	10	0	8	439
AKAP13	11214	broad.mit.edu	37	15	86128981	86128981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:86128981C>A	ENST00000394518.2	+	8	4183	c.4088C>A	c.(4087-4089)tCa>tAa	p.S1363*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1363					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGCAAGTTCAATTTCTGAA	0.448																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2	0.390000	0.100000	2.900000e-01	1.400000e-01	0.210000	0.228642	0.210000	0.200000																										0				98						c.(4087-4089)tCa>tAa		A kinase (PRKA) anchor protein 13							112.0	107.0	108.0					15																	86128981		2202	4299	6501	SO:0001587	stop_gained	11214	0	0					g.chr15:86128981C>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4088C>A	chr15.hg19:g.86128981C>A	ENSP00000378026:p.Ser1363*	0					AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	p.S1363*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	1	2	3	2.030134	Q12802	AKP13_HUMAN		8	4183	+			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	ENST00000394518.2	0	1	hg19	c.4088C>A	CCDS32319.1	0	.	.	.	.	.	.	.	.	.	.	C	42	9.723090	0.99248	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	.	.	.	5.77	3.9	0.45041	5.77	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9761	0.35937	0.0:0.8295:0.0:0.1705	.	.	.	.	X	1363;1363;1362;1362	.	ENSP00000354718:S1363X	S	+	2	0	0	AKAP13	83929985	83929985	0.001000	0.12720	0.003000	0.11579	0.539000	0.34962	0.903000	0.28475	0.796000	0.33947	0.591000	0.81541	TCA	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.448	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	0	1	2	2	2	2	0	0	0	0	98	98	98	97	1	1.890000	-3.651328	1	0.230000	NM_007200		0	9	8	0	380	375	0		1	0		0	0	98	0	0	0.993929	1.719001e-01	0	0	0	29	0	9	380
FANCI	55215	broad.mit.edu	37	15	89828362	89828362	+	Silent	SNP	C	C	A	rs536499156		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:89828362C>A	ENST00000310775.7	+	18	1820	c.1734C>A	c.(1732-1734)gtC>gtA	p.V578V	FANCI_ENST00000300027.8_Silent_p.V578V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	578					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACAATTCTGTCGCCAATGAAA	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7	0.270000	0.070000	2.000000e-01	1.000000e-01	0.140000	0.162692	0.140000	0.140000																										0				31						c.(1732-1734)gtC>gtA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							216.0	186.0	196.0					15																	89828362		2200	4299	6499	SO:0001819	synonymous_variant	55215	0	0		Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr15:89828362C>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1734C>A	chr15.hg19:g.89828362C>A		0					FANCI_ENST00000300027.8_Silent_p.V578V	p.V578V	NM_001113378.1	NP_001106849.1	1	2	3	2.030134	Q9NVI1	FANCI_HUMAN		18	1820	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Silent	SNP	ENST00000310775.7	0	1	hg19	c.1734C>A	CCDS45346.1	0																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.423	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	0	0	1	2	2	2	2	0	0	0	0	173	173	173	171	1	1.890000	-2.451680	0	0.230000	NM_018193		0	11	10	0	661	653	0		1	0		0	0	173	0	0	0.998204	6.662564e-03	0	0	0	7	0	11	661
BLM	641	broad.mit.edu	37	15	91306341	91306341	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:91306341C>A	ENST00000355112.3	+	8	2146	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	BLM_ENST00000560509.1_Silent_p.I676I|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	676	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAGAGGCGATCAATGCTGCAC	0.363			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3	0.280000	0.080000	2.100000e-01	1.100000e-01	0.160000	0.176371	0.160000	0.160000			yes	Rec		Bloom Syndrome	yes	Rec		Bloom Syndrome	15	15q26.1	15q26.1	641	Mis, N, F	Bloom Syndrome				"""L, E"""	L, E		leukemia, lymphoma, skin squamous cell , other cancers			0				51						c.(2026-2028)atC>atA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							118.0	123.0	121.0					15																	91306341		2198	4298	6496	SO:0001819	synonymous_variant	641	0	0		Bloom syndrome	Familial Cancer Database		g.chr15:91306341C>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2028C>A	chr15.hg19:g.91306341C>A		0					BLM_ENST00000560509.1_Silent_p.I676I|BLM_ENST00000560136.1_3'UTR	p.I676I	NM_000057.2	NP_000048.1	1	2	3	2.030134	P54132	BLM_HUMAN	Lung(145;0.189)	8	2146	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		Q52M96	Silent	SNP	ENST00000355112.3	0	1	hg19	c.2028C>A	CCDS10363.1	0																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.363	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	0	0	1	2	2	2	2	0	0	0	0	171	171	171	169	1	1.890000	-2.536566	1	0.230000			0	13	12	0	707	693	0		1	0		0	0	171	0	0	0.999465	0	0	0	0	1	0	13	707
SSTR5	6755	broad.mit.edu	37	16	1129733	1129733	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:1129733G>A	ENST00000293897.4	+	1	953	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	289					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CTACTTCTTCGTGGTCATCCT	0.622																																						ENST00000293897.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998755	0.990000	1.000000																										0				9						c.(865-867)Gtg>Atg		somatostatin receptor 5	Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)						83.0	88.0	86.0					16																	1129733		2194	4297	6491	SO:0001583	missense	6755	1	120854	32				g.chr16:1129733G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.865G>A	chr16.hg19:g.1129733G>A	ENSP00000293897:p.Val289Met	0					SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M|SSTR5_ENST00000562758.1_Intron|SSTR5-AS1_ENST00000569832.1_RNA	p.V289M	NM_001053.3	NP_001044.1	0	1	1	2.023051	P35346	SSR5_HUMAN		1	953	+		Hepatocellular(780;0.00369)	P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	1	1	hg19	c.865G>A	CCDS10429.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534704	0.45073	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.72505	-0.66;-0.66	4.76	4.76	0.60689	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.381500	0.26654	N	0.023198	T	0.77974	0.4211	M	0.82323	2.585	0.42578	D	0.993203	D	0.53619	0.961	P	0.50162	0.633	T	0.81911	-0.0716	10	0.59425	D	0.04	.	12.2855	0.54789	0.0858:0.0:0.9142:0.0	.	289	P35346	SSR5_HUMAN	M	289	ENSP00000380680:V289M;ENSP00000293897:V289M	ENSP00000293897:V289M	V	+	1	0	0	SSTR5	1069734	1069734	1.000000	0.71417	0.922000	0.36590	0.009000	0.06853	4.534000	0.60622	2.202000	0.70862	0.561000	0.74099	GTG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.622	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	1	2	2	2	2	0	0	0	0	70	70	70	69	1	1.890000	-20.000000	1	0.230000			0	33	32	0	168	163	1		1	0		0	0	70	0	0	1.000000	2.873563e-02	0	1	0	1	0	33	168
RSL1D1	26156	broad.mit.edu	37	16	11933615	11933615	+	Silent	SNP	G	G	T	rs144452977		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:11933615G>T	ENST00000571133.1	-	8	1155	c.1083C>A	c.(1081-1083)tcC>tcA	p.S361S	RSL1D1_ENST00000542106.1_Silent_p.S141S	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	361					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTCGTCTTCGGATTCATTTG	0.398																																						ENST00000571133.1	0.190000	0.050000	1.500000e-01	7.000000e-02	0.100000	0.116180	0.100000	0.100000																										0				15						c.(1081-1083)tcC>tcA		ribosomal L1 domain containing 1							306.0	266.0	279.0					16																	11933615		2197	4300	6497	SO:0001819	synonymous_variant	26156	0	0					g.chr16:11933615G>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1083C>A	chr16.hg19:g.11933615G>T		0					RSL1D1_ENST00000542106.1_Silent_p.S141S	p.S361S	NM_015659.2	NP_056474.2	0	1	1	2.023051	O76021	RL1D1_HUMAN		8	1155	-			B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Silent	SNP	ENST00000571133.1	0	1	hg19	c.1083C>A	CCDS10551.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.398	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	0	0	1	2	2	2	2	0	0	0	0	230	230	230	227	1	1.890000	-1.921123	0	0.230000	NM_015659		0	10	10	0	806	788	0		1	0		0	0	230	0	0	0.996524	9.122852e-01	0	0	0	345	0	10	806
ZNF200	7752	broad.mit.edu	37	16	3274343	3274343	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:3274343C>A	ENST00000431561.3	-	5	1349	c.737G>T	c.(736-738)cGg>cTg	p.R246L	ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CCTTGTCCTCCGATTTCGAGT	0.413																																						ENST00000431561.3	0.210000	0.040000	1.600000e-01	7.000000e-02	0.110000	0.121039	0.110000	0.110000																										0				17						c.(736-738)cGg>cTg		zinc finger protein 200							124.0	115.0	118.0					16																	3274343		2197	4300	6497	SO:0001583	missense	7752	0	0					g.chr16:3274343C>A	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.737G>T	chr16.hg19:g.3274343C>A	ENSP00000395723:p.Arg246Leu	0					AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L|ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L	p.R246L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	0	1	1	2.023051	P98182	ZN200_HUMAN		5	1349	-			D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	0	1	hg19	c.737G>T	CCDS10497.1	0	.	.	.	.	.	.	.	.	.	.	C	7.491	0.650617	0.14516	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T;T	0.07216	3.21;3.24;3.25;3.31	5.17	2.19	0.27852	5.17	2.19	0.27852	.	0.401360	0.18508	N	0.139141	T	0.06188	0.0160	L	0.27053	0.805	0.09310	N	1	B;B;B	0.31485	0.218;0.218;0.325	B;B;B	0.32724	0.072;0.072;0.151	T	0.31392	-0.9945	10	0.66056	D	0.02	-20.7119	6.6597	0.23007	0.0:0.631:0.0:0.369	.	245;246;245	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	L	246;245;245;245;246	ENSP00000380079:R246L;ENSP00000380077:R245L;ENSP00000380080:R245L;ENSP00000395723:R246L	ENSP00000380077:R245L	R	-	2	0	0	ZNF200	3214344	3214344	0.037000	0.19845	0.016000	0.15963	0.707000	0.40811	0.023000	0.13533	0.348000	0.23949	0.455000	0.32223	CGG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.413	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1	0	0	1	2	2	2	2	0	0	0	0	141	141	141	141	1	1.890000	-2.287943	0	0.230000			0	7	7	0	561	552	0		1	0		0	0	141	0	0	0.979577	1.752641e-02	0	0	0	14	0	7	561
KIAA0430	9665	broad.mit.edu	37	16	15719310	15719310	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:15719310G>T	ENST00000396368.3	-	8	2078	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000551742.1_Silent_p.S623S|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000602337.1_Silent_p.S621S|KIAA0430_ENST00000548025.1_Silent_p.S621S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	624					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTTGGCACTGGAAGATTGTT	0.368																																						ENST00000396368.3	0.210000	0.050000	1.700000e-01	7.000000e-02	0.110000	0.126464	0.110000	0.120000																										0				40						c.(1870-1872)tcC>tcA		KIAA0430							123.0	118.0	120.0					16																	15719310		1835	4094	5929	SO:0001819	synonymous_variant	9665	0	0					g.chr16:15719310G>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1872C>A	chr16.hg19:g.15719310G>T		0					KIAA0430_ENST00000602337.1_Silent_p.S621S|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Silent_p.S621S|KIAA0430_ENST00000551742.1_Silent_p.S623S	p.S624S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	0	1	1	2.023051	Q9Y4F3	MARF1_HUMAN		8	2078	-			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	0	1	hg19	c.1872C>A	CCDS10562.2	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.368	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	0	0	1	2	2	2	2	0	0	0	0	144	144	144	144	1	1.890000	-2.278812	0	0.230000	NM_014647		0	8	8	0	604	597	0		1	0		0	0	144	0	0	0.988854	1.174684e-02	0	0	0	11	0	8	604
RPGRIP1L	23322	broad.mit.edu	37	16	53730088	53730088	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:53730088G>T	ENST00000379925.3	-	3	255	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R69S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	69					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)	p.R69C(1)		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)				TCCTGCTTGCGGGCATGCTGT	0.368																																						ENST00000379925.3	0.200000	0.060000	1.600000e-01	8.000000e-02	0.110000	0.126380	0.110000	0.120000																										1	Substitution - Missense(1)	p.R69C(1)	large_intestine(1)	46						c.(205-207)Cgc>Agc		RPGRIP1-like							126.0	129.0	128.0					16																	53730088		2198	4300	6498	SO:0001583	missense	23322	0	0					g.chr16:53730088G>T		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.205C>A	chr16.hg19:g.53730088G>T	ENSP00000369257:p.Arg69Ser	0					RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R69S	p.R69S	NM_015272.2	NP_056087.2	0	1	1	2.023051	Q68CZ1	FTM_HUMAN		3	255	-		all_cancers(37;0.0973)	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	0	1	hg19	c.205C>A	CCDS32447.1	0	.	.	.	.	.	.	.	.	.	.	G	6.569	0.473342	0.12461	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.87887	-2.31;-2.31	5.73	0.185	0.15096	5.73	0.185	0.15096	.	0.439409	0.24615	N	0.037005	T	0.78329	0.4266	L	0.48642	1.525	0.25924	N	0.983084	B;B;B;B	0.18310	0.005;0.007;0.027;0.01	B;B;B;B	0.15052	0.005;0.011;0.011;0.012	T	0.62765	-0.6785	10	0.27082	T	0.32	-0.0133	6.443	0.21861	0.2592:0.0:0.553:0.1878	.	69;69;69;69	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	69	ENSP00000369257:R69S;ENSP00000262135:R69S	ENSP00000262135:R69S	R	-	1	0	0	RPGRIP1L	52287589	52287589	0.994000	0.37717	0.999000	0.59377	0.978000	0.69477	0.921000	0.28718	0.363000	0.24346	-0.244000	0.11960	CGC	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.368	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	0	0	1	2	16	2	2	1	1	1	1	205	205	205	205	1	1.890000	-1.683075	0	0.230000	NM_015272		0	12	11	0	875	859	0		0	0		1	0	205	0	0	0.265888	1.827332e-02	0	0	0	14	0	12	875
CLEC18B	497190	broad.mit.edu	37	16	74443519	74443519	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:74443519A>T	ENST00000339953.5	-	12	1380	c.1259T>A	c.(1258-1260)cTg>cAg	p.L420Q		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	420	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGAAGCCTGCAGCTCCACGCA	0.597																																						ENST00000339953.5	0.670000	0.280000	5.700000e-01	3.600000e-01	0.450000	0.470347	0.450000	0.450000																										0				27						c.(1258-1260)cTg>cAg		C-type lectin domain family 18, member B							126.0	112.0	117.0					16																	74443519		2196	4297	6493	SO:0001583	missense	497190	0	0					g.chr16:74443519A>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1259T>A	chr16.hg19:g.74443519A>T	ENSP00000341051:p.Leu420Gln	0						p.L420Q	NM_001011880.2	NP_001011880.2	0	1	1	2.015849	Q6UXF7	CL18B_HUMAN		12	1380	-			B4DF90	Missense_Mutation	SNP	ENST00000339953.5	0	1	hg19	c.1259T>A	CCDS32484.1	0	.	.	.	.	.	.	.	.	.	.	a	16.96	3.265272	0.59431	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.60040	0.22	3.64	3.64	0.41730	3.64	3.64	0.41730	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.101710	0.40908	D	0.000981	T	0.70133	0.3189	M	0.76727	2.345	0.29629	N	0.845598	D;D	0.64830	0.994;0.994	D;D	0.65323	0.934;0.913	T	0.67511	-0.5652	10	0.87932	D	0	.	8.5986	0.33732	1.0:0.0:0.0:0.0	.	411;420	C9JSV1;Q6UXF7	.;CL18B_HUMAN	Q	411;420	ENSP00000341051:L420Q	ENSP00000341051:L420Q	L	-	2	0	0	CLEC18B	73001020	73001020	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.380000	0.79704	1.519000	0.48950	0.352000	0.21897	CTG	0.226442		TCGA-HZ-A77Q-01A-11D-A36O-08	0.597	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	0	0	1	2	2	2	2	0	0	0	0	121	121	121	155	1	1.890000	-19.991740	1	0.230000	NM_001011880		0	20	19	0	361	339	0		1			0	0	121	0	0	0.999992	0	0	0	0	0	0	20	361
SDR42E1	93517	broad.mit.edu	37	16	82033377	82033377	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:82033377C>T	ENST00000328945.5	-	3	648	c.521G>A	c.(520-522)gGc>gAc	p.G174D	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	174					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACACCGTCGCCTCTGTCCAG	0.557																																						ENST00000328945.5	0.650000	0.320000	5.700000e-01	3.900000e-01	0.470000	0.485706	0.470000	0.470000																										0				10						c.(520-522)gGc>gAc		short chain dehydrogenase/reductase family 42E, member 1							84.0	85.0	85.0					16																	82033377		2045	4198	6243	SO:0001583	missense	93517	6	120994	40				g.chr16:82033377C>T	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.521G>A	chr16.hg19:g.82033377C>T	ENSP00000332407:p.Gly174Asp	0					SDR42E1_ENST00000534209.1_5'UTR	p.G174D	NM_145168.2	NP_660151.2	0	1	1	2.015849	Q8WUS8	D42E1_HUMAN		3	648	-			B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	1	1	hg19	c.521G>A	CCDS42205.1	0	.	.	.	.	.	.	.	.	.	.	C	8.554	0.876151	0.17395	.	.	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.86297	-2.1;-2.1	5.76	4.81	0.61882	5.76	4.81	0.61882	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.402695	0.32459	N	0.006073	D	0.83695	0.5310	L	0.58510	1.815	0.09310	N	0.999999	B	0.12630	0.006	B	0.18263	0.021	T	0.73616	-0.3926	10	0.41790	T	0.15	-2.9917	10.2802	0.43534	0.0:0.8505:0.0:0.1495	.	174	Q8WUS8	D42E1_HUMAN	D	174;171	ENSP00000332407:G174D;ENSP00000434529:G171D	ENSP00000332407:G174D	G	-	2	0	0	SDR42E1	80590878	80590878	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	1.918000	0.40006	1.431000	0.47355	0.655000	0.94253	GGC	0.226442		TCGA-HZ-A77Q-01A-11D-A36O-08	0.557	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	1	0	1	2	2	2	2	0	0	0	0	143	143	143	140	1	1.890000	-20.000000	1	0.230000	NM_145168		0	30	29	0	517	508	0		1	1		0	0	143	0	0	1.000000	7.210051e-02	0	3	0	5	0	30	517
MAP2K4	6416	broad.mit.edu	37	17	12013744	12013744	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:12013744G>T	ENST00000353533.5	+	6	748		c.e6+1		MAP2K4_ENST00000415385.3_Splice_Site|MAP2K4_ENST00000581941.1_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATTCACAGAGGTGGGTATGGA	0.308			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000353533.5	0.970000	0.590000	9.000000e-01	6.800000e-01	0.780000	0.793958	0.780000	0.790000				Rec	yes			Rec	yes		17	17p11.2	17p11.2	6416	D, Mis, N	mitogen-activated protein kinase kinase 4				E	E			pancreatic, breast, colorectal		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	100						c.e6+1		mitogen-activated protein kinase kinase 4							89.0	90.0	89.0					17																	12013744		2203	4299	6502	SO:0001630	splice_region_variant	6416	0	0					g.chr17:12013744G>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.685+1G>T	chr17.hg19:g.12013744G>T		1					MAP2K4_ENST00000581941.1_Splice_Site|MAP2K4_ENST00000415385.3_Splice_Site		NM_003010.2	NP_003001.1	0	1	1	1.796019	P45985	MP2K4_HUMAN		6	748	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Splice_Site	SNP	ENST00000353533.5	1	1	hg19		CCDS11162.1	0	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366763	0.82463	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.32	5.32	0.75619	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1455	0.89653	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MAP2K4	11954469	11954469	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.110000	0.94302	2.639000	0.89480	0.557000	0.71058	.	0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.308	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	1	0	0	2	2	2	2	0	0	0	0	99	99	99	99	1	1.890000	-20.000000	1	0.230000		Intron	0	47	47	0	403	399	0		1	0	1	0	0	99	543	0	1.000000	0	1	1	58	0	535	47	403
WSB1	26118	broad.mit.edu	37	17	25628876	25628876	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:25628876C>A	ENST00000262394.2	+	2	419	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	WSB1_ENST00000581185.1_Missense_Mutation_p.R35S|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000583193.1_Intron	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	35					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAAATGTGGTCGTGAAAATTG	0.398																																						ENST00000262394.2			0	0																														0				3						c.(103-105)Cgt>Agt		WD repeat and SOCS box containing 1							249.0	239.0	243.0					17																	25628876		2203	4300	6503	SO:0001583	missense	26118	0	0					g.chr17:25628876C>A	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.103C>A	chr17.hg19:g.25628876C>A	ENSP00000262394:p.Arg35Ser						WSB1_ENST00000348811.2_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.R35S|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000583193.1_Intron	p.R35S	NM_015626.8	NP_056441.6					Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	2	419	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	0	1	hg19	c.103C>A	CCDS11220.1		.	.	.	.	.	.	.	.	.	.	C	13.88	2.368309	0.42003	.	.	ENSG00000109046	ENST00000262394	T	0.43294	0.95	5.95	3.89	0.44902	5.95	3.89	0.44902	.	0.455607	0.22917	N	0.054078	T	0.32133	0.0819	N	0.20986	0.625	0.80722	D	1	B;B	0.19073	0.004;0.033	B;B	0.19946	0.004;0.027	T	0.04635	-1.0937	10	0.42905	T	0.14	-15.6797	15.5864	0.76485	0.0:0.7304:0.2696:0.0	.	35;35	B4DTL1;Q9Y6I7	.;WSB1_HUMAN	S	35	ENSP00000262394:R35S	ENSP00000262394:R35S	R	+	1	0	0	WSB1	22653003	22653003	0.986000	0.35501	1.000000	0.80357	0.984000	0.73092	1.896000	0.39789	0.792000	0.33850	0.655000	0.94253	CGT			TCGA-HZ-A77Q-01A-11D-A36O-08	0.398	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	0	0	1	2	14	2	2	0	0	0	1	230	230	230	229	1	1.890000	-2.173954	0	0.230000	NM_015626		0	13	11	0	862	848	0		0	0		0	0	230	0	0	0.479377	1.470806e-01	0	0	0	42	0	13	862
SRCIN1	80725	broad.mit.edu	37	17	36708223	36708223	+	Missense_Mutation	SNP	C	C	T	rs533940451		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:36708223C>T	ENST00000264659.7	-	14	2850	c.2626G>A	c.(2626-2628)Ggg>Agg	p.G876R	SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	748	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCAGCTGGCCCGCTCAGCTCA	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16597	0.0		0.0	False		,,,				2504	0.0					ENST00000264659.7	1.000000	0.750000	1	8.900000e-01	0.990000	0.963773	0.990000	1.000000																										0				19						c.(2626-2628)Ggg>Agg		SRC kinase signaling inhibitor 1							37.0	43.0	41.0					17																	36708223		1921	4117	6038	SO:0001583	missense	80725	3	120836	37				g.chr17:36708223C>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2626G>A	chr17.hg19:g.36708223C>T	ENSP00000264659:p.Gly876Arg	0					SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R	p.G876R	NM_025248.2	NP_079524.2	1	2	3	2.035258	Q9C0H9	SRCN1_HUMAN		14	2850	-			Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	1	1	hg19	c.2626G>A	CCDS45660.1	1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413836	0.62511	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.46451	0.87	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.232419	0.43260	D	0.000583	T	0.52403	0.1732	L	0.43152	1.355	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.993;0.993;0.993	P;P;P;P	0.58266	0.836;0.677;0.677;0.677	T	0.52132	-0.8616	10	0.51188	T	0.08	-29.8471	16.9082	0.86133	0.0:1.0:0.0:0.0	.	182;748;748;876	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	R	876;657;730	ENSP00000264659:G876R	ENSP00000264659:G876R	G	-	1	0	0	SRCIN1	33961749	33961749	0.740000	0.28207	0.745000	0.31077	0.073000	0.16967	2.370000	0.44240	2.606000	0.88127	0.561000	0.74099	GGG	0.233526		TCGA-HZ-A77Q-01A-11D-A36O-08	0.602	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	1	0	1	2	2	2	2	0	0	0	0	81	81	81	75	1	1.890000	-2.559342	1	0.230000	NM_025248		0	32	31	0	231	227	1		1	1		0	0	81	0	0	1.000000	7.911057e-02	0	2	0	2	0	32	231
KRT24	192666	broad.mit.edu	37	17	38857542	38857542	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:38857542C>T	ENST00000264651.2	-	3	761	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	235	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ACAGCTCGTTCTCATACCTGG	0.512																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2	1.000000	0.650000	1	8.200000e-01	0.990000	0.936532	0.990000	1.000000																										0				29						c.(703-705)gaG>gaA		keratin 24							52.0	48.0	49.0					17																	38857542		2203	4300	6503	SO:0001819	synonymous_variant	192666	0	0					g.chr17:38857542C>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.705G>A	chr17.hg19:g.38857542C>T		0						p.E235E	NM_019016.2	NP_061889.2	1	2	3	2.035258	Q2M2I5	K1C24_HUMAN		3	761	-		Breast(137;0.00526)	Q9NXG7	Silent	SNP	ENST00000264651.2	1	1	hg19	c.705G>A	CCDS11372.1	1																																																																																								0.233526		TCGA-HZ-A77Q-01A-11D-A36O-08	0.512	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	1	0	1	2	2	2	2	0	0	0	0	26	26	26	25	1	1.890000	-3.320285	1	0.230000	NM_019016		0	19	18	0	143	140	0		1			0	0	26	0	0	0.999992	0	0	0	0	0	0	19	143
KRT33B	3884	broad.mit.edu	37	17	39521158	39521158	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:39521158G>T	ENST00000251646.3	-	6	1019	c.970C>A	c.(970-972)Cag>Aag	p.Q324K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	324	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCGCCAGCTGGGACTCCACG	0.617																																						ENST00000251646.3	0.690000	0.270000	5.700000e-01	3.500000e-01	0.450000	0.469055	0.450000	0.450000																										0				21						c.(970-972)Cag>Aag		keratin 33B							48.0	55.0	53.0					17																	39521158		2189	4296	6485	SO:0001583	missense	3884	0	0					g.chr17:39521158G>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.970C>A	chr17.hg19:g.39521158G>T	ENSP00000251646:p.Gln324Lys	0						p.Q324K	NM_002279.4	NP_002270.1	0	1	1	2.025332	Q14525	KT33B_HUMAN		6	1019	-		Breast(137;0.000496)	O76010	Missense_Mutation	SNP	ENST00000251646.3	0	1	hg19	c.970C>A	CCDS11389.1	0	.	.	.	.	.	.	.	.	.	.	g	17.10	3.304063	0.60305	.	.	ENSG00000131738	ENST00000251646	D	0.89196	-2.48	4.29	4.29	0.51040	4.29	4.29	0.51040	Filament (1);	0.000000	0.64402	D	0.000010	D	0.95544	0.8552	H	0.97023	3.925	0.32020	N	0.600921	D	0.55172	0.97	P	0.59012	0.85	D	0.95999	0.8992	10	0.87932	D	0	.	14.3715	0.66843	0.0:0.1494:0.8506:0.0	.	324	Q14525	KT33B_HUMAN	K	324	ENSP00000251646:Q324K	ENSP00000251646:Q324K	Q	-	1	0	0	KRT33B	36774684	36774684	0.605000	0.26941	0.960000	0.40013	0.526000	0.34562	0.833000	0.27504	2.666000	0.90696	0.650000	0.86243	CAG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.617	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	0	0	1	2	2	2	2	0	0	0	0	96	96	96	114	1	1.890000	-3.219557	1	0.230000	NM_002279		0	16	15	0	293	258	0		1			0	0	96	0	0	0.999838	0	0	0	0	0	0	16	293
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4	1.000000	0.780000	9.900000e-01	8.700000e-01	0.940000	0.936625	0.940000	0.990000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	1	121412	37	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	g.chr17:7577539G>A	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.742C>T	chr17.hg19:g.7577539G>A	ENSP00000269305:p.Arg248Trp	1	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	0	1	1	1.796019	P04637	P53_HUMAN		7	931	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	1	1	hg19	c.742C>T	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	2	TP53	7518264	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	2	2	2	2	0	0	0	0	75	75	75	75	1	1.890000	-2.656564	1	0.230000	NM_000546		0	38	37	0	188	183	1		1	1	1	0	0	75	816	0	1.000000	9.992211e-01	1	11	107	46	873	38	188
NBR1	4077	broad.mit.edu	37	17	41341806	41341806	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:41341806C>A	ENST00000422280.1	+	8	1141	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	NBR1_ENST00000542611.1_Missense_Mutation_p.R207S|NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000341165.6_Missense_Mutation_p.R228S|NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	228					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGTTGGTGTCCGCTACCAGTG	0.438																																						ENST00000422280.1	0.230000	0.060000	1.800000e-01	9.000000e-02	0.120000	0.139612	0.120000	0.120000																										0				24						c.(682-684)Cgc>Agc		neighbor of BRCA1 gene 1							147.0	138.0	141.0					17																	41341806		1919	4137	6056	SO:0001583	missense	4077	0	0					g.chr17:41341806C>A	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.682C>A	chr17.hg19:g.41341806C>A	ENSP00000411250:p.Arg228Ser	0					NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S|NBR1_ENST00000341165.6_Missense_Mutation_p.R228S|NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S	p.R228S	NM_031858.2	NP_114064.1	0	1	1	2.025332	Q14596	NBR1_HUMAN		8	1141	+		Breast(137;0.00086)	Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	0	1	hg19	c.682C>A	CCDS45694.1	0	.	.	.	.	.	.	.	.	.	.	C	19.06	3.752959	0.69648	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.96	5.96	0.96718	5.96	5.96	0.96718	Zinc finger, ZZ-type (4);	0.054076	0.85682	D	0.000000	D	0.98893	0.9625	H	0.95850	3.73	0.50632	D	0.999887	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.967;1.0	D	0.98914	1.0781	10	0.62326	D	0.03	-12.2893	20.422	0.99049	0.0:1.0:0.0:0.0	.	207;228;228	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	S	228;207;228;228;228	ENSP00000411250:R228S;ENSP00000437545:R207S;ENSP00000343479:R228S;ENSP00000373963:R228S	ENSP00000343479:R228S	R	+	1	0	0	NBR1	38595332	38595332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.607000	0.61133	2.832000	0.97577	0.655000	0.94253	CGC	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.438	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	0	0	1	2	2	2	2	0	0	0	0	151	151	151	148	1	1.890000	-1.844675	0	0.230000	NM_005899		0	9	9	0	607	594	0		1	0		0	0	151	0	0	0.993685	2.246973e-01	0	0	0	55	0	9	607
RNF213	57674	broad.mit.edu	37	17	78338344	78338344	+	Silent	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:78338344A>G	ENST00000582970.1	+	42	12005	c.11862A>G	c.(11860-11862)ttA>ttG	p.L3954L	RNF213_ENST00000508628.2_Silent_p.L4003L|RNF213_ENST00000336301.6_Silent_p.L2027L|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3954					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGTCTTCTTACTAGACAAGG	0.582																																						ENST00000582970.1	1.000000	0.440000	9.300000e-01	5.700000e-01	0.730000	0.748015	0.730000	1.000000																										0				130						c.(11860-11862)ttA>ttG		ring finger protein 213							70.0	66.0	67.0					17																	78338344		2203	4300	6503	SO:0001819	synonymous_variant	57674	0	0					g.chr17:78338344A>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11862A>G	chr17.hg19:g.78338344A>G		0					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4003L|RNF213_ENST00000336301.6_Silent_p.L2027L|CTD-2047H16.4_ENST00000572151.1_RNA	p.L3954L	NM_001256071.1	NP_001243000.1	1	2	3	2.031530	Q63HN8	RN213_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)	42	12005	+	all_neural(118;0.0538)		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	1	1	hg19	c.11862A>G	CCDS58606.1	0																																																																																								0.233526		TCGA-HZ-A77Q-01A-11D-A36O-08	0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	1	0	1	2	2	2	2	0	0	0	0	52	52	52	52	1	1.890000	-19.999080	1	0.230000	NM_020914		0	17	17	0	188	183	0		1	1	1	0	0	52	416	0	0.999965	8.406251e-01	1	6	84	33	483	17	188
EPB41L3	23136	broad.mit.edu	37	18	5424355	5424355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:5424355C>A	ENST00000341928.2	-	10	1409	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*	EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	357	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCAAATTGTTCAAACTAAATA	0.323																																						ENST00000341928.2	0.330000	0.100000	2.700000e-01	1.500000e-01	0.200000	0.214734	0.200000	0.200000																										0				105						c.(1069-1071)Gaa>Taa		erythrocyte membrane protein band 4.1-like 3							80.0	85.0	84.0					18																	5424355		2203	4300	6503	SO:0001587	stop_gained	23136	0	0					g.chr18:5424355C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1069G>T	chr18.hg19:g.5424355C>A	ENSP00000343158:p.Glu357*	0					EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*	p.E357*	NM_012307.2	NP_036439.2	0	1	1	1.923824	Q9Y2J2	E41L3_HUMAN		10	1409	-			B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	0	1	hg19	c.1069G>T	CCDS11838.1	0	.	.	.	.	.	.	.	.	.	.	C	42	9.258930	0.99117	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	.	.	.	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.129804	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.6186	0.99473	0.0:1.0:0.0:0.0	.	.	.	.	X	357;248;357;248;357;357	.	ENSP00000343158:E357X	E	-	1	0	0	EPB41L3	5414355	5414355	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.876000	0.98609	0.643000	0.83706	GAA	0.192872		TCGA-HZ-A77Q-01A-11D-A36O-08	0.323	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	0	0	1	2	2	2	2	0	0	0	0	96	96	96	95	1	1.890000	-2.531925	1	0.230000	NM_012307		0	12	11	0	484	478	0		1	0		0	0	96	0	0	0.999056	3.968520e-01	0	0	0	53	0	12	484
SERPINB12	89777	broad.mit.edu	37	18	61233928	61233928	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:61233928G>T	ENST00000269491.1	+	7	902	c.902G>T	c.(901-903)cGg>cTg	p.R301L	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R321L	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	301					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCTTCCCCCGGTTCACCCTG	0.448																																						ENST00000269491.1	0.220000	0.070000	1.800000e-01	1.000000e-01	0.130000	0.142723	0.130000	0.130000																										0				26						c.(901-903)cGg>cTg		serpin peptidase inhibitor, clade B (ovalbumin), member 12							180.0	177.0	178.0					18																	61233928		2203	4300	6503	SO:0001583	missense	89777	0	0					g.chr18:61233928G>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.902G>T	chr18.hg19:g.61233928G>T	ENSP00000269491:p.Arg301Leu	1					SERPINB12_ENST00000382768.1_Missense_Mutation_p.R321L	p.R301L	NM_080474.1	NP_536722.1	0	1	1	1.803354	Q96P63	SPB12_HUMAN		7	902	+			Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	0	1	hg19	c.902G>T	CCDS11984.1	0	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304108	0.40795	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84223	-1.82;-1.82	5.81	1.97	0.26223	5.81	1.97	0.26223	Serpin domain (3);	0.299003	0.29246	N	0.012717	D	0.87111	0.6096	M	0.91872	3.25	0.09310	N	0.999998	P;B	0.37781	0.608;0.182	B;B	0.38655	0.278;0.098	T	0.80381	-0.1406	10	0.87932	D	0	.	10.0287	0.42087	0.5897:0.0:0.4103:0.0	.	321;301	Q3SYB4;Q96P63	.;SPB12_HUMAN	L	301;321	ENSP00000269491:R301L;ENSP00000372218:R321L	ENSP00000269491:R301L	R	+	2	0	0	SERPINB12	59384908	59384908	0.000000	0.05858	0.999000	0.59377	0.943000	0.58893	0.120000	0.15647	0.135000	0.18707	-0.290000	0.09829	CGG	0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.448	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	0	0	1	2	2	2	2	0	0	0	0	250	250	250	249	1	1.890000	-1.902544	0	0.230000	NM_080474		0	14	13	0	786	772	0		1			0	0	250	0	0	0.999715	0	0	0	0	0	0	14	786
RTTN	25914	broad.mit.edu	37	18	67742608	67742608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:67742608G>T	ENST00000255674.6	-	33	4830	c.4544C>A	c.(4543-4545)tCa>tAa	p.S1515*	RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1515					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATTGCTTTCTGAATTTCTATC	0.254																																						ENST00000255674.6	0.250000	0.080000	2.100000e-01	1.100000e-01	0.150000	0.164537	0.150000	0.150000																										0				80						c.(4543-4545)tCa>tAa		rotatin							66.0	63.0	64.0					18																	67742608		1796	4068	5864	SO:0001587	stop_gained	25914	0	0					g.chr18:67742608G>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4544C>A	chr18.hg19:g.67742608G>T	ENSP00000255674:p.Ser1515*	1					RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*|RTTN_ENST00000454359.1_3'UTR	p.S1515*	NM_173630.3	NP_775901.3	0	1	1	1.803354	Q86VV8	RTTN_HUMAN		33	4830	-		Esophageal squamous(42;0.129)	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	ENST00000255674.6	0	1	hg19	c.4544C>A	CCDS42443.1	0	.	.	.	.	.	.	.	.	.	.	G	41	8.763837	0.98945	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	.	.	.	5.52	3.73	0.42828	5.52	3.73	0.42828	.	1.265960	0.05147	N	0.495368	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1648	0.48537	0.2339:0.0:0.7661:0.0	.	.	.	.	X	1515	.	ENSP00000255674:S1515X	S	-	2	0	0	RTTN	65893588	65893588	0.407000	0.25352	0.006000	0.13384	0.034000	0.12701	1.450000	0.35134	0.303000	0.22785	-1.164000	0.01763	TCA	0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.254	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	0	0	1	2	2	2	2	0	0	0	0	150	150	150	150	1	1.890000	-2.646924	1	0.230000	NM_173630		0	13	12	0	633	627	0		1	0		0	0	150	0	0	0.999497	4.978073e-04	0	0	0	2	0	13	633
ZNF407	55628	broad.mit.edu	37	18	72347035	72347035	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:72347035G>T	ENST00000299687.5	+	1	4060	c.4060G>T	c.(4060-4062)Ggt>Tgt	p.G1354C	ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GTACAGTTTTGGTCGATTTGA	0.423																																						ENST00000299687.5	0.250000	0.070000	2.100000e-01	1.100000e-01	0.150000	0.161783	0.150000	0.150000																										0				67						c.(4060-4062)Ggt>Tgt		zinc finger protein 407							104.0	107.0	106.0					18																	72347035		1883	4119	6002	SO:0001583	missense	55628	0	0					g.chr18:72347035G>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4060G>T	chr18.hg19:g.72347035G>T	ENSP00000299687:p.Gly1354Cys	1					ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C	p.G1354C	NM_017757.2	NP_060227.2	0	1	1	1.803354	Q9C0G0	ZN407_HUMAN		1	4060	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	0	1	hg19	c.4060G>T	CCDS45885.1	0	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987151	0.53934	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.13196	2.61;3.04	5.84	4.06	0.47325	5.84	4.06	0.47325	.	0.195350	0.36519	N	0.002550	T	0.20007	0.0481	N	0.19112	0.55	0.32517	N	0.536824	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.985	T	0.03060	-1.1077	10	0.59425	D	0.04	.	9.7588	0.40519	0.2094:0.0:0.7906:0.0	.	1354;1354;1354	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	C	1354	ENSP00000299687:G1354C;ENSP00000310359:G1354C	ENSP00000299687:G1354C	G	+	1	0	0	ZNF407	70476023	70476023	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	1.301000	0.33447	2.754000	0.94517	0.655000	0.94253	GGT	0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.423	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	0	0	1	2	2	2	2	0	0	0	0	149	149	149	147	1	1.890000	-2.256605	0	0.230000	NM_017757		0	11	11	0	551	542	0		1	0		0	0	149	0	0	0.998204	2.841389e-03	0	0	0	4	0	11	551
TMEM38A	79041	broad.mit.edu	37	19	16799034	16799034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:16799034C>A	ENST00000187762.2	+	6	843	c.752C>A	c.(751-753)tCg>tAg	p.S251*		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	251						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTGTTTGGTTCGGCCTGCGGG	0.642																																						ENST00000187762.2	0.190000	0.060000	1.600000e-01	8.000000e-02	0.110000	0.123759	0.110000	0.120000																										0				15						c.(751-753)tCg>tAg		transmembrane protein 38A							158.0	164.0	162.0					19																	16799034		2203	4300	6503	SO:0001587	stop_gained	79041	0	0					g.chr19:16799034C>A	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.752C>A	chr19.hg19:g.16799034C>A	ENSP00000187762:p.Ser251*	0						p.S251*	NM_024074.1	NP_076979.1	0	1	1	2.022501	Q9H6F2	TM38A_HUMAN		6	843	+			A8K9P9	Nonsense_Mutation	SNP	ENST00000187762.2	0	1	hg19	c.752C>A	CCDS12349.1	0	.	.	.	.	.	.	.	.	.	.	c	13.31	2.198085	0.38806	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.12	1.93	0.25924	4.12	1.93	0.25924	.	0.520628	0.22109	N	0.064515	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	0.1108	7.7281	0.28771	0.161:0.7511:0.0:0.0879	.	.	.	.	X	251	.	ENSP00000187762:S251X	S	+	2	0	0	TMEM38A	16660034	16660034	0.085000	0.21516	0.001000	0.08648	0.069000	0.16628	2.684000	0.46951	0.227000	0.20999	0.462000	0.41574	TCG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.642	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	0	0	1	2	2	2	2	0	0	0	0	294	294	294	288	1	1.890000	-2.165208	0	0.230000	NM_024074		0	13	13	0	963	945	0		1	0		0	0	294	0	0	0.999467	4.344392e-03	0	0	0	7	0	13	963
MYO9B	4650	broad.mit.edu	37	19	17213368	17213368	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:17213368G>A	ENST00000594824.1	+	2	987		c.e2+1		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site|MYO9B_ENST00000593411.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGTGCTGGAGGTGAGCGGGGA	0.607																																						ENST00000594824.1	1.000000	0.930000	1	9.900000e-01	0.990000	0.995491	0.990000	1.000000																										0				39						c.e2+1		myosin IXB							8.0	9.0	9.0					19																	17213368		1987	4148	6135	SO:0001630	splice_region_variant	4650	0	0					g.chr19:17213368G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.840+1G>A	chr19.hg19:g.17213368G>A		0					MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000593411.1_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site				0	1	1	2.022501	Q13459	MYO9B_HUMAN		2	987	+			O75314|Q9NUJ2|Q9UHN0	Splice_Site	SNP	ENST00000594824.1	0	1	hg19			1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091562	0.76756	.	.	ENSG00000099331	ENST00000397274	.	.	.	5.3	5.3	0.74995	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9365	0.89013	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MYO9B	17074368	17074368	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.459000	0.97638	2.480000	0.83734	0.655000	0.94253	.	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.607	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1	0	0	1	2	2	2	2	0	0	0	0	9	9	9	9	1	1.890000	-19.994960	1	0.230000		Intron	0	11	11	0	42	42	0		1	0		0	0	9	0	0	0.998935	0	0	1	0	0	0	11	42
ZNF14	7561	broad.mit.edu	37	19	19823005	19823005	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:19823005G>T	ENST00000344099.3	-	4	1223	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	362					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)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ACATTCATATGGTTTTTCTCC	0.393																																						ENST00000344099.3	0.300000	0.070000	2.400000e-01	1.100000e-01	0.160000	0.179738	0.160000	0.160000																										0				32						c.(1084-1086)cCa>cAa		zinc finger protein 14							81.0	81.0	81.0					19																	19823005		2203	4300	6503	SO:0001583	missense	7561	0	0					g.chr19:19823005G>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1085C>A	chr19.hg19:g.19823005G>T	ENSP00000340514:p.Pro362Gln	0						p.P362Q	NM_021030.2	NP_066358.2	0	1	1	2.022501	P17017	ZNF14_HUMAN		4	1223	-		Renal(1328;0.0474)	B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	0	1	hg19	c.1085C>A	CCDS12409.1	0	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448100	0.63178	.	.	ENSG00000105708	ENST00000344099	T	0.17213	2.29	1.86	0.672	0.17935	1.86	0.672	0.17935	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40979	0.1139	M	0.86028	2.79	0.24605	N	0.993751	D	0.89917	1.0	D	0.76575	0.988	T	0.14062	-1.0486	9	0.87932	D	0	.	7.6356	0.28264	0.0:0.2677:0.7323:0.0	.	362	P17017	ZNF14_HUMAN	Q	362	ENSP00000340514:P362Q	ENSP00000340514:P362Q	P	-	2	0	0	ZNF14	19684005	19684005	0.060000	0.20803	0.200000	0.23457	0.719000	0.41307	0.746000	0.26275	0.084000	0.17077	0.467000	0.42956	CCA	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.393	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	0	0	1	2	2	2	2	0	0	0	0	99	99	99	98	1	1.890000	-3.001605	1	0.230000	NM_021030		0	8	9	0	421	411	0		1	0		0	0	99	0	0	0.988565	1.425557e-03	0	0	0	3	0	8	421
ZNF431	170959	broad.mit.edu	37	19	21366085	21366085	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:21366085C>A	ENST00000311048.7	+	5	1123	c.979C>A	c.(979-981)Cag>Aag	p.Q327K	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	327					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTTTTAACCAGTCTTCAAC	0.403																																						ENST00000311048.7	0.380000	0.100000	3.000000e-01	1.500000e-01	0.210000	0.231709	0.210000	0.210000																										0				23						c.(979-981)Cag>Aag		zinc finger protein 431							59.0	63.0	61.0					19																	21366085		2203	4299	6502	SO:0001583	missense	170959	0	0					g.chr19:21366085C>A	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.979C>A	chr19.hg19:g.21366085C>A	ENSP00000308578:p.Gln327Lys	0					ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	p.Q327K	NM_133473.2	NP_597730.2	0	1	1	2.022501	Q8TF32	ZN431_HUMAN		5	1123	+			A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	0	1	hg19	c.979C>A	CCDS32979.1	0	.	.	.	.	.	.	.	.	.	.	.	0.500	-0.871450	0.02570	.	.	ENSG00000196705	ENST00000311048	T	0.35421	1.31	1.0	1.0	0.19881	1.0	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20210	0.0486	N	0.16266	0.395	0.09310	N	1	B	0.22851	0.076	B	0.23574	0.047	T	0.22977	-1.0201	9	0.32370	T	0.25	.	6.2054	0.20600	0.0:0.6793:0.3206:0.0	.	327	Q8TF32	ZN431_HUMAN	K	327	ENSP00000308578:Q327K	ENSP00000308578:Q327K	Q	+	1	0	0	ZNF431	21157925	21157925	0.000000	0.05858	0.456000	0.27044	0.446000	0.32137	-3.026000	0.00640	0.446000	0.26666	0.449000	0.29647	CAG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.403	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	0	0	1	2	2	2	2	0	0	0	0	88	88	88	88	1	1.890000	-3.168597	1	0.230000	XM_086098		0	9	8	0	360	349	0		1	0		0	0	88	0	0	0.993440	7.431959e-03	0	0	0	5	0	9	360
TSHZ3	57616	broad.mit.edu	37	19	31769737	31769737	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:31769737C>A	ENST00000240587.4	-	2	1289	c.962G>T	c.(961-963)cGg>cTg	p.R321L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	321					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)					AGCTTTCTTCCGAGTGGCAGG	0.527																																						ENST00000240587.4	0.270000	0.060000	2.000000e-01	9.000000e-02	0.140000	0.153750	0.140000	0.140000																										0				123						c.(961-963)cGg>cTg		teashirt zinc finger homeobox 3							111.0	114.0	113.0					19																	31769737		2203	4300	6503	SO:0001583	missense	57616	0	0					g.chr19:31769737C>A	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.962G>T	chr19.hg19:g.31769737C>A	ENSP00000240587:p.Arg321Leu	0						p.R321L	NM_020856.2	NP_065907.2	0	1	1	2.022501	Q63HK5	TSH3_HUMAN		2	1289	-	Esophageal squamous(110;0.226)		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	0	1	hg19	c.962G>T	CCDS12421.2	0	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817102	0.50633	.	.	ENSG00000121297	ENST00000240587	T	0.12569	2.67	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.120599	0.52532	D	0.000061	T	0.16171	0.0389	L	0.40543	1.245	0.58432	D	0.999998	P	0.42757	0.789	B	0.40101	0.319	T	0.01195	-1.1422	10	0.62326	D	0.03	-26.965	19.0278	0.92939	0.0:1.0:0.0:0.0	.	321	Q63HK5	TSH3_HUMAN	L	321	ENSP00000240587:R321L	ENSP00000240587:R321L	R	-	2	0	0	TSHZ3	36461577	36461577	1.000000	0.71417	0.967000	0.41034	0.394000	0.30568	7.487000	0.81328	2.479000	0.83701	0.563000	0.77884	CGG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.527	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	0	0	1	2	2	2	2	0	0	0	0	144	144	144	135	1	1.890000	-2.256010	0	0.230000	NM_020856		0	7	8	0	439	406	0		1	0		0	0	144	0	0	0.975016	6.171367e-02	0	0	0	22	0	7	439
ZNF181	339318	broad.mit.edu	37	19	35231549	35231549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:35231549C>A	ENST00000492450.1	+	4	352	c.263C>A	c.(262-264)tCa>tAa	p.S88*	ZNF181_ENST00000392232.3_Nonsense_Mutation_p.S132*|ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S87*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGGAATTATCAACAAAGAAG	0.264																																						ENST00000492450.1	0.280000	0.090000	2.300000e-01	1.200000e-01	0.170000	0.181791	0.170000	0.170000																										0				22						c.(262-264)tCa>tAa		zinc finger protein 181							72.0	86.0	82.0					19																	35231549		2170	4271	6441	SO:0001587	stop_gained	339318	0	0					g.chr19:35231549C>A	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.263C>A	chr19.hg19:g.35231549C>A	ENSP00000420727:p.Ser88*	0					ZNF181_ENST00000392232.3_Nonsense_Mutation_p.S132*|ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S87*	p.S88*			0	1	1	2.022501	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)	4	352	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		B7ZKX3|Q49A75	Nonsense_Mutation	SNP	ENST00000492450.1	0	1	hg19	c.263C>A	CCDS32990.2	0	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176182	0.57692	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	.	.	.	3.42	2.33	0.28932	3.42	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	3.7581	0.08593	0.2346:0.6242:0.0:0.1412	.	.	.	.	X	132;87;88;87	.	ENSP00000376065:S132X	S	+	2	0	0	ZNF181	39923389	39923389	0.000000	0.05858	0.079000	0.20413	0.847000	0.48162	0.129000	0.15830	0.718000	0.32166	0.491000	0.48974	TCA	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.264	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	0	0	1	2	2	2	2	0	0	0	0	106	106	106	106	1	1.890000	-2.517108	1	0.230000	NM_001029997		0	12	12	0	603	594	0		1	0		0	0	106	0	0	0.999043	4.531855e-03	0	0	0	5	0	12	603
PSG3	5671	broad.mit.edu	37	19	43237144	43237144	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:43237144T>G	ENST00000327495.5	-	3	685	c.501A>C	c.(499-501)ttA>ttC	p.L167F	PSG3_ENST00000595140.1_Missense_Mutation_p.L167F|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	167	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GATCACAGGTTAAGCTCACAG	0.522																																						ENST00000327495.5	1.000000	0.180000	3.500000e-01	2.200000e-01	0.270000	0.322107	0.270000	0.270000																										0				36						c.(499-501)ttA>ttC		pregnancy specific beta-1-glycoprotein 3							206.0	201.0	203.0					19																	43237144		2203	4300	6503	SO:0001583	missense	5671	0	0					g.chr19:43237144T>G		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.501A>C	chr19.hg19:g.43237144T>G	ENSP00000332215:p.Leu167Phe	0					PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.L167F	p.L167F	NM_021016.3	NP_066296.2	1	2	3	2.047941	Q16557	PSG3_HUMAN		3	685	-		Prostate(69;0.00682)	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	1	1	hg19	c.501A>C	CCDS12611.1	0	.	.	.	.	.	.	.	.	.	.	-	9.036	0.988549	0.18966	.	.	ENSG00000221826	ENST00000327495	T	0.20332	2.08	1.59	0.52	0.17040	1.59	0.52	0.17040	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33411	0.0862	M	0.64170	1.965	0.09310	N	1	D;B	0.64830	0.994;0.395	D;B	0.70227	0.968;0.316	T	0.14896	-1.0456	9	0.34782	T	0.22	.	2.9502	0.05859	0.0:0.277:0.0:0.723	.	145;167	Q08266;Q16557	.;PSG3_HUMAN	F	167	ENSP00000332215:L167F	ENSP00000332215:L167F	L	-	3	2	2	PSG3	47928984	47928984	0.000000	0.05858	0.014000	0.15608	0.015000	0.08874	-0.662000	0.05305	0.725000	0.32318	0.324000	0.21423	TTA	0.236149		TCGA-HZ-A77Q-01A-11D-A36O-08	0.522	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	0	0	1	2	2	2	2	0	0	0	0	283	283	283	294	1	1.890000	-3.757069	1	0.230000	NM_021016		0	29	29	0	898	880	0		1			0	0	283	0	0	1.000000	0	0	0	0	0	0	29	898
ZNF557	79230	broad.mit.edu	37	19	7082034	7082034	+	Silent	SNP	C	C	A	rs201136508		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7082034C>A	ENST00000439035.2	+	7	616	c.376C>A	c.(376-378)Cga>Aga	p.R126R	ZNF557_ENST00000414706.1_Silent_p.R133R|ZNF557_ENST00000252840.6_Silent_p.R133R			Q8N988	ZN557_HUMAN	zinc finger protein 557	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348																																						ENST00000439035.2	0.310000	0.070000	2.400000e-01	1.100000e-01	0.160000	0.182443	0.160000	0.160000																										0				17						c.(376-378)Cga>Aga		zinc finger protein 557							82.0	81.0	82.0					19																	7082034		1864	4136	6000	SO:0001819	synonymous_variant	79230	0	0					g.chr19:7082034C>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.376C>A	chr19.hg19:g.7082034C>A		0					ZNF557_ENST00000414706.1_Silent_p.R133R|ZNF557_ENST00000252840.6_Silent_p.R133R	p.R126R			0	1	1	2.022501	Q8N988	ZN557_HUMAN		7	616	+			Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	0	1	hg19	c.376C>A	CCDS45945.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.348	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	0	0	1	2	2	2	2	0	0	0	0	68	68	68	68	1	1.890000	-3.038070	1	0.230000	NM_024341		0	7	7	0	368	363	0		1	0		0	0	68	0	0	0.979897	1.481276e-03	0	0	0	3	0	7	368
ZNF358	140467	broad.mit.edu	37	19	7584555	7584555	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7584555G>T	ENST00000597229.1	+	2	597	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	CTD-2207O23.11_ENST00000602083.1_RNA|MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	143					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGTGCTccccgcccccgccag	0.741																																						ENST00000597229.1	0.590000	0.090000	4.300000e-01	1.700000e-01	0.280000	0.306565	0.280000	0.250000																										0				8						c.(427-429)Gcc>Tcc		zinc finger protein 358							11.0	13.0	12.0					19																	7584555		2166	4242	6408	SO:0001583	missense	140467	0	0					g.chr19:7584555G>T	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.427G>T	chr19.hg19:g.7584555G>T	ENSP00000472305:p.Ala143Ser	0					MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S	p.A143S	NM_018083.4	NP_060553.4	0	1	1	2.022501	Q9NW07	ZN358_HUMAN		2	597	+			Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	0	1	hg19	c.427G>T	CCDS32890.2	0	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318275	0.60524	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07021	3.23	4.59	3.53	0.40419	4.59	3.53	0.40419	.	.	.	.	.	T	0.06325	0.0163	N	0.17594	0.5	0.19300	N	0.999978	B	0.33940	0.433	B	0.31290	0.127	T	0.32798	-0.9893	9	0.49607	T	0.09	-17.385	12.6401	0.56705	0.0:0.1684:0.8316:0.0	.	143	Q9NW07	ZN358_HUMAN	S	143	ENSP00000377873:A143S	ENSP00000354703:A143S	A	+	1	0	0	ZNF358	7490555	7490555	0.567000	0.26626	0.366000	0.25914	0.772000	0.43724	2.186000	0.42593	1.041000	0.40125	0.462000	0.41574	GCC	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.741	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1	0	0	0	2	2	2	2	0	0	0	0	35	35	35	33	1	1.890000	-6.542422	1	0.230000			0	4	0	0	132	123	0		0	0		0	0	35	0	0	0.866198	6.287570e-01	0	0	0	65	0	4	132
RTN2	6253	broad.mit.edu	37	19	45997638	45997638	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:45997638G>A	ENST00000245923.4	-	4	835	c.600C>T	c.(598-600)ccC>ccT	p.P200P	RTN2_ENST00000344680.4_Silent_p.P200P|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	200					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCAAGACCTCGGGCGATGAGG	0.617																																						ENST00000245923.4	1.000000	0.850000	1	9.900000e-01	0.990000	0.988699	0.990000	1.000000																										0				20						c.(598-600)ccC>ccT		reticulon 2							56.0	50.0	52.0					19																	45997638		2203	4300	6503	SO:0001819	synonymous_variant	6253	0	0					g.chr19:45997638G>A	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.600C>T	chr19.hg19:g.45997638G>A		0					RTN2_ENST00000430715.2_5'Flank|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.P200P	p.P200P	NM_005619.4	NP_005610.1	1	2	3	2.039352	O75298	RTN2_HUMAN		4	835	-		Ovarian(192;0.051)|all_neural(266;0.112)	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	1	1	hg19	c.600C>T	CCDS12665.1	1																																																																																								0.234402		TCGA-HZ-A77Q-01A-11D-A36O-08	0.617	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	1	0	1	2	2	2	2	0	0	0	0	61	61	61	60	1	1.890000	-2.810883	1	0.230000	NM_005619		0	31	31	0	194	191	1		1	1		0	0	61	0	0	1.000000	8.002499e-01	0	4	0	17	0	31	194
ANGPTL7	10218	broad.mit.edu	37	1	11252368	11252368	+	Missense_Mutation	SNP	C	C	A	rs572517061		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:11252368C>A	ENST00000376819.3	+	2	657	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	140	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		R -> H (in dbSNP:rs28991002). {ECO:0000269|Ref.6}.		response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GAAGAACTACCGCATCTCTGG	0.512																																						ENST00000376819.3	1.000000	0.040000	1.400000e-01	6.000000e-02	0.090000	0.146057	0.090000	0.100000																										0				10						c.(418-420)Cgc>Agc		angiopoietin-like 7							198.0	160.0	173.0					1																	11252368		2203	4300	6503	SO:0001583	missense	10218	0	0					g.chr1:11252368C>A	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.418C>A	chr1.hg19:g.11252368C>A	ENSP00000366015:p.Arg140Ser	0					MTOR_ENST00000361445.4_Intron	p.R140S	NM_021146.2	NP_066969.1	1	2	3	2.042898	O43827	ANGL7_HUMAN		2	657	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	0	1	hg19	c.418C>A	CCDS128.1	0	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828114	0.50845	.	.	ENSG00000171819	ENST00000376819	T	0.76578	-1.03	6.17	5.26	0.73747	6.17	5.26	0.73747	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.369397	0.31624	N	0.007340	T	0.62514	0.2434	L	0.39692	1.235	0.43080	D	0.994731	P	0.43662	0.814	B	0.36464	0.225	T	0.61797	-0.6989	10	0.08179	T	0.78	.	9.13	0.36839	0.2506:0.6827:0.0:0.0667	.	140	O43827	ANGL7_HUMAN	S	140	ENSP00000366015:R140S	ENSP00000366015:R140S	R	+	1	0	0	ANGPTL7	11174955	11174955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.507000	0.35758	1.626000	0.50381	0.655000	0.94253	CGC	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.512	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	0	0	1	2	2	2	2	0	0	0	0	243	243	243	243	1	1.890000	-1.986339	0	0.230000	NM_021146		0	10	10	0	911	893	0		1	0		0	0	243	0	0	0.996541	4.886668e-02	0	0	0	29	0	10	911
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1_ENST00000462591.1_5'Flank|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					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)	p.R276W(2)		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)		CCCTTGACCCGCACAAGGACA	0.483																																						ENST00000369569.1	1.000000	0.060000	2.600000e-01	1.000000e-01	0.160000	0.215155	0.160000	0.150000																										2	Substitution - Missense(2)	p.R276W(2)	prostate(2)	25						c.(826-828)Cgg>Tgg		adaptor-related protein complex 4, beta 1 subunit							74.0	81.0	78.0					1																	114442814		2203	4300	6503	SO:0001583	missense	10717	1	121412	28				g.chr1:114442814G>A	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.826C>T	chr1.hg19:g.114442814G>A	ENSP00000358582:p.Arg276Trp	0					AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank	p.R276W	NM_001253852.1	NP_001240781.1	1	2	3	2.042901	Q9Y6B7	AP4B1_HUMAN		5	1106	-	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)	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	0	1	hg19	c.826C>T	CCDS865.1	0	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272545	0.59649	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;2.55;1.69;1.69	5.09	3.04	0.35103	5.09	3.04	0.35103	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.174999	0.49305	D	0.000144	T	0.47192	0.1432	M	0.87328	2.875	0.41890	D	0.990362	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.995;0.974;0.99	T	0.62186	-0.6907	10	0.87932	D	0	.	15.2638	0.73646	0.0:0.0:0.6536:0.3464	.	183;108;276;177	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	W	108;276;276;183;201;108	ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W	ENSP00000256658:R276W	R	-	1	2	2	AP4B1	114244337	114244337	0.992000	0.36948	0.837000	0.33122	0.912000	0.54170	1.685000	0.37659	1.225000	0.43566	0.561000	0.74099	CGG	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	0	0	1	2	2	2	2	0	0	0	0	83	83	83	82	1	1.890000	-2.239216	0	0.230000	NM_006594		0	6	6	0	336	330	0		1	0		0	0	83	0	0	0.963037	1.148470e-01	0	0	0	28	0	6	336
GJA8	2703	broad.mit.edu	37	1	147381108	147381108	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:147381108C>T	ENST00000369235.1	+	1	1026	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	GJA8_ENST00000240986.4_Silent_p.A342A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	342					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGGAGGGAGCCGAACCCGAGG	0.652																																					Melanoma(76;1255 1795 8195 52096)	ENST00000369235.1	1.000000	0.270000	1	5.200000e-01	0.880000	0.799926	0.880000	1.000000																										0				37						c.(1024-1026)gcC>gcT		gap junction protein, alpha 8, 50kDa							33.0	32.0	32.0					1																	147381108		2202	4299	6501	SO:0001819	synonymous_variant	2703	0	0					g.chr1:147381108C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1026C>T	chr1.hg19:g.147381108C>T		0					GJA8_ENST00000240986.4_Silent_p.A342A	p.A342A			1	2	3	2.026692	P48165	CXA8_HUMAN		1	1026	+	all_hematologic(923;0.0276)		A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	0	1	hg19	c.1026C>T	CCDS30834.1	1																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.652	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	0	0	1	2	2	2	2	0	0	0	0	8	8	8	8	1	1.890000	-5.145069	1	0.230000	NM_005267		0	3	3	0	28	27	0		1			0	0	8	0	0	0.802167	0	0	0	0	0	0	3	28
FLG	2312	broad.mit.edu	37	1	152277569	152277569	+	Missense_Mutation	SNP	C	C	A	rs144217264		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152277569C>A	ENST00000368799.1	-	3	9828	c.9793G>T	c.(9793-9795)Ggg>Tgg	p.G3265W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3265	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGTGCCCGTGACCGGCT	0.582									Ichthyosis																													ENST00000368799.1	0.130000	0.030000	1.000000e-01	5.000000e-02	0.070000	0.087095	0.070000	0.080000																										0				424						c.(9793-9795)Ggg>Tgg		filaggrin							263.0	266.0	265.0					1																	152277569		2203	4300	6503	SO:0001583	missense	2312	0	0		Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	g.chr1:152277569C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9793G>T	chr1.hg19:g.152277569C>A	ENSP00000357789:p.Gly3265Trp	0					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G3265W	NM_002016.1	NP_002007.1	1	2	3	2.026692	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	9828	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	0	1	hg19	c.9793G>T	CCDS30860.1	0	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090737	0.20471	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01145	5.27	2.33	2.33	0.28932	2.33	2.33	0.28932	.	.	.	.	.	T	0.02193	0.0068	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44528	-0.9322	9	0.72032	D	0.01	-5.3773	8.176	0.31283	0.0:1.0:0.0:0.0	.	3265	P20930	FILA_HUMAN	W	3265;203	ENSP00000357789:G3265W	ENSP00000357786:G203W	G	-	1	0	0	FLG	150544193	150544193	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.064000	0.11636	1.305000	0.44909	0.449000	0.29647	GGG	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	1	2	11	2	2	1	1	1	1	571	571	571	564	1	1.890000	-1.624409	0	0.230000	NM_002016		0	12	13	0	1434	1410	0		1			1	0	571	0	0	0.645590	0	0	0	0	0	0	12	1434
UBAP2L	9898	broad.mit.edu	37	1	154207157	154207157	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:154207157C>A	ENST00000361546.2	+	4	412	c.370C>A	c.(370-372)Cga>Aga	p.R124R	UBAP2L_ENST00000343815.6_Silent_p.R124R|UBAP2L_ENST00000271877.7_Silent_p.R124R|UBAP2L_ENST00000428931.1_Silent_p.R124R			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	124					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAAGAAAATCGAGACCGGGA	0.557																																						ENST00000361546.2	0.820000	0.220000	6.100000e-01	3.200000e-01	0.440000	0.470252	0.440000	0.420000																										0				50						c.(370-372)Cga>Aga		ubiquitin associated protein 2-like							71.0	69.0	69.0					1																	154207157		2203	4300	6503	SO:0001819	synonymous_variant	9898	0	0					g.chr1:154207157C>A	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.370C>A	chr1.hg19:g.154207157C>A		0					UBAP2L_ENST00000271877.7_Silent_p.R124R|UBAP2L_ENST00000343815.6_Silent_p.R124R|UBAP2L_ENST00000428931.1_Silent_p.R124R	p.R124R			1	2	3	2.026692	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	4	412	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Silent	SNP	ENST00000361546.2	1	0	hg19	c.370C>A	CCDS1063.1	0																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.557	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	1	0	1	2	2	2	2	0	0	0	0	38	38	38	37	1	1.890000	-11.966880	1	0.230000	NM_014847		0	9	9	0	173	173	0		1	0		0	0	38	0	0	0.994436	8.609619e-01	0	0	0	71	0	9	173
ASH1L	55870	broad.mit.edu	37	1	155448756	155448756	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:155448756C>A	ENST00000368346.3	-	3	4544	c.3905G>T	c.(3904-3906)cGg>cTg	p.R1302L	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1302					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGAGTGATCCGAATTTCACT	0.393																																						ENST00000368346.3	0.290000	0.070000	2.200000e-01	1.100000e-01	0.150000	0.173659	0.150000	0.150000																										0				124						c.(3904-3906)cGg>cTg		ash1 (absent, small, or homeotic)-like (Drosophila)							100.0	105.0	103.0					1																	155448756		2203	4300	6503	SO:0001583	missense	55870	0	0					g.chr1:155448756C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3905G>T	chr1.hg19:g.155448756C>A	ENSP00000357330:p.Arg1302Leu	0					ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L	p.R1302L			1	2	3	2.026692	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)	3	4544	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	0	1	hg19	c.3905G>T		0	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816696	0.70912	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91068	-2.78;-2.78	4.92	4.92	0.64577	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.91199	0.7227	L	0.29908	0.895	0.80722	D	1	D;D	0.63046	0.987;0.992	D;D	0.72982	0.953;0.979	D	0.92702	0.6175	10	0.87932	D	0	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	1302;1302	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	1302	ENSP00000357330:R1302L;ENSP00000376204:R1302L	ENSP00000357330:R1302L	R	-	2	0	0	ASH1L	153715380	153715380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.555000	0.86185	0.591000	0.81541	CGG	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	0	1	2	15	2	2	1	1	1	1	135	135	135	133	1	1.890000	-2.190078	0	0.230000	NM_018489		0	10	10	0	564	554	0		0	0		1	0	135	0	0	0.195699	4.799329e-02	0	0	0	18	0	10	564
SEC16B	89866	broad.mit.edu	37	1	177913756	177913756	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:177913756C>A	ENST00000308284.6	-	15	1910	c.1821G>T	c.(1819-1821)acG>acT	p.T607T	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	607					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.T608T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGAAGATTTCCGTCCTCTGGA	0.483																																						ENST00000308284.6	0.290000	0.060000	2.100000e-01	1.000000e-01	0.140000	0.167470	0.140000	0.140000																										1	Substitution - coding silent(1)	p.T608T(1)	lung(1)	35						c.(1819-1821)acG>acT		SEC16 homolog B (S. cerevisiae)							149.0	153.0	152.0					1																	177913756		1904	4130	6034	SO:0001819	synonymous_variant	89866	0	0					g.chr1:177913756C>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1821G>T	chr1.hg19:g.177913756C>A		0					RP4-798P15.3_ENST00000354921.3_RNA	p.T607T	NM_033127.2	NP_149118.2	1	2	3	2.026692	Q96JE7	SC16B_HUMAN		15	1910	-			A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	0	1	hg19	c.1821G>T	CCDS44281.1	0																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.483	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	0	0	1	2	2	2	2	0	0	0	0	136	136	136	134	1	1.890000	-1.913219	0	0.230000	NM_033127		0	9	9	0	533	525	0		1	0		0	0	136	0	0	0.993886	4.063797e-02	0	0	0	17	0	9	533
FAM129A	116496	broad.mit.edu	37	1	184777291	184777291	+	Nonsense_Mutation	SNP	C	C	A	rs371190847		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:184777291C>A	ENST00000367511.3	-	10	1445	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	418					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGCAGGCGCTCGTGAAGCAGG	0.517																																						ENST00000367511.3	0.390000	0.090000	2.900000e-01	1.400000e-01	0.200000	0.223760	0.200000	0.200000																										0				45						c.(1252-1254)Gag>Tag		family with sequence similarity 129, member A							105.0	110.0	108.0					1																	184777291		2203	4300	6503	SO:0001587	stop_gained	116496	0	0					g.chr1:184777291C>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1252G>T	chr1.hg19:g.184777291C>A	ENSP00000356481:p.Glu418*	0					FAM129A_ENST00000487074.1_5'UTR	p.E418*	NM_052966.2	NP_443198.1	1	2	3	2.026692	Q9BZQ8	NIBAN_HUMAN		10	1445	-			Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Nonsense_Mutation	SNP	ENST00000367511.3	0	1	hg19	c.1252G>T	CCDS1364.1	0	.	.	.	.	.	.	.	.	.	.	C	39	7.450749	0.98292	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.159368	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-30.4623	16.9967	0.86369	0.0:1.0:0.0:0.0	.	.	.	.	X	418	.	ENSP00000356481:E418X	E	-	1	0	0	FAM129A	183043914	183043914	1.000000	0.71417	0.933000	0.37362	0.867000	0.49689	5.525000	0.67110	2.438000	0.82558	0.655000	0.94253	GAG	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.517	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1	0	0	1	2	2	2	2	0	0	0	0	127	127	127	125	1	1.890000	-2.441661	0	0.230000			0	9	8	0	389	382	0		1	0		0	0	127	0	0	0.993790	9.976419e-02	0	0	0	21	0	9	389
ASPM	259266	broad.mit.edu	37	1	197086945	197086945	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197086945G>T	ENST00000367409.4	-	17	4295	c.4039C>A	c.(4039-4041)Caa>Aaa	p.Q1347K	ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K|ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1347	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTTTATTTTGAACTTTTTCC	0.289																																						ENST00000367409.4	0.230000	0.060000	1.800000e-01	9.000000e-02	0.130000	0.147229	0.130000	0.130000																										0				165						c.(4039-4041)Caa>Aaa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							114.0	123.0	120.0					1																	197086945		2202	4298	6500	SO:0001583	missense	259266	0	0					g.chr1:197086945G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4039C>A	chr1.hg19:g.197086945G>T	ENSP00000356379:p.Gln1347Lys	0					ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K|ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K	p.Q1347K	NM_018136.4	NP_060606.3	1	2	3	2.026692	Q8IZT6	ASPM_HUMAN		17	4295	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	0	1	hg19	c.4039C>A	CCDS1389.1	0	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569453	0.13560	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.70282	0.3;-0.47;-0.47	5.72	4.79	0.61399	5.72	4.79	0.61399	.	0.624908	0.15769	N	0.245535	T	0.67382	0.2887	M	0.76574	2.34	0.09310	N	1	B;B	0.27765	0.001;0.188	B;B	0.22880	0.003;0.042	T	0.55425	-0.8143	10	0.15952	T	0.53	.	12.3172	0.54964	0.0:0.0:0.6346:0.3654	.	1347;1347	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	K	1347;1347;597	ENSP00000356379:Q1347K;ENSP00000294732:Q1347K;ENSP00000356378:Q597K	ENSP00000294732:Q1347K	Q	-	1	0	0	ASPM	195353568	195353568	0.978000	0.34361	0.019000	0.16419	0.325000	0.28411	2.287000	0.43505	1.384000	0.46424	0.557000	0.71058	CAA	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	1	2	2	2	2	0	0	0	0	167	167	167	165	1	1.890000	-2.475444	0	0.230000	NM_018136		0	12	11	0	799	790	0		1	0		0	0	167	0	0	0.999039	0	0	0	0	1	0	12	799
SH2D5	400745	broad.mit.edu	37	1	21050638	21050638	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21050638C>T	ENST00000444387.2	-	7	1134	c.737G>A	c.(736-738)cGc>cAc	p.R246H	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Missense_Mutation_p.R162H	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	246								p.R162H(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCCCCCGAGCGGATCACCTT	0.667																																						ENST00000444387.2	1.000000	0.900000	1	9.900000e-01	0.990000	0.994105	0.990000	1.000000																										1	Substitution - Missense(1)	p.R162H(1)	prostate(1)	6						c.(736-738)cGc>cAc		SH2 domain containing 5							46.0	55.0	52.0					1																	21050638		2093	4200	6293	SO:0001583	missense	400745	1	121040	32				g.chr1:21050638C>T	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.737G>A	chr1.hg19:g.21050638C>T	ENSP00000406026:p.Arg246His	0					SH2D5_ENST00000375031.1_Missense_Mutation_p.R162H|SH2D5_ENST00000460804.1_5'UTR	p.R246H	NM_001103161.1	NP_001096631.1	1	2	3	2.042901	Q6ZV89	SH2D5_HUMAN		7	1134	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	ENST00000444387.2	1	1	hg19	c.737G>A	CCDS44080.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627683	0.87560	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.93	4.01	0.46588	4.93	4.01	0.46588	SH2 motif (3);	0.138797	0.49305	N	0.000156	T	0.56877	0.2015	L	0.56769	1.78	0.42777	D	0.993855	B	0.25667	0.131	B	0.18871	0.023	T	0.59984	-0.7351	9	0.66056	D	0.02	.	12.202	0.54331	0.0:0.9156:0.0:0.0844	.	246	Q6ZV89	SH2D5_HUMAN	H	162;246	.	ENSP00000364171:R162H	R	-	2	0	0	SH2D5	20923225	20923225	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.417000	0.59822	1.303000	0.44873	0.563000	0.77884	CGC	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.667	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	1	0	1	2	2	2	2	0	0	0	0	101	101	101	101	1	1.890000	-3.080225	1	0.230000	XM_375698		0	36	36	0	217	210	1		1			0	0	101	0	0	1.000000	0	0	0	0	0	0	36	217
CACNA1S	779	broad.mit.edu	37	1	201019522	201019522	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:201019522C>T	ENST00000362061.3	-	34	4462	c.4236G>A	c.(4234-4236)gaG>gaA	p.E1412E	CACNA1S_ENST00000367338.3_Silent_p.E1393E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1412					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCACTTAGCCTCTGGGTCAT	0.532																																						ENST00000362061.3	1.000000	0.580000	1	7.200000e-01	0.870000	0.865318	0.870000	1.000000																										0				102						c.(4234-4236)gaG>gaA		calcium channel, voltage-dependent, L type, alpha 1S subunit	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)						85.0	82.0	83.0					1																	201019522		2203	4300	6503	SO:0001819	synonymous_variant	779	0	0					g.chr1:201019522C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4236G>A	chr1.hg19:g.201019522C>T		0					CACNA1S_ENST00000367338.3_Silent_p.E1393E	p.E1412E	NM_000069.2	NP_000060.2	1	2	3	2.026692	Q13698	CAC1S_HUMAN		34	4462	-			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	1	1	hg19	c.4236G>A	CCDS1407.1	1																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	1	2	2	2	2	0	0	0	0	59	59	59	59	1	1.890000	-20.000000	1	0.230000	NM_000069		0	25	24	0	224	223	0		1			0	0	59	0	0	1.000000	0	0	0	0	0	0	25	224
EIF4G3	8672	broad.mit.edu	37	1	21180069	21180069	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21180069G>T	ENST00000264211.8	-	21	3561	c.3367C>A	c.(3367-3369)Cga>Aga	p.R1123R	EIF4G3_ENST00000537738.1_Silent_p.R613R|EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000400422.1_Silent_p.R1123R|EIF4G3_ENST00000374937.3_Silent_p.R1129R|EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000602326.1_Silent_p.R1129R	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1123					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGGTCCTTCGGGAATCAAAC	0.507																																						ENST00000264211.8	1.000000	0.160000	5.400000e-01	2.400000e-01	0.360000	0.407156	0.360000	0.330000																										0				70						c.(3367-3369)Cga>Aga		eukaryotic translation initiation factor 4 gamma, 3							112.0	100.0	104.0					1																	21180069		2203	4300	6503	SO:0001819	synonymous_variant	8672	0	0					g.chr1:21180069G>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3367C>A	chr1.hg19:g.21180069G>T		0					EIF4G3_ENST00000537738.1_Silent_p.R613R|EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000400422.1_Silent_p.R1123R|EIF4G3_ENST00000374937.3_Silent_p.R1129R|EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000602326.1_Silent_p.R1129R	p.R1123R	NM_003760.4	NP_003751.2	1	2	3	2.042901	O43432	IF4G3_HUMAN		21	3561	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	0	1	hg19	c.3367C>A	CCDS214.1	0																																																																																								0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.507	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	0	0	1	2	2	2	2	0	0	0	0	41	41	41	40	1	1.890000	-3.177570	1	0.230000	NM_003760		0	7	5	0	173	172	0		1	0		0	0	41	0	0	0.980077	8.595789e-01	0	0	0	90	0	7	173
RCOR3	55758	broad.mit.edu	37	1	211469083	211469083	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:211469083C>A	ENST00000367005.4	+	8	972	c.831C>A	c.(829-831)ttC>ttA	p.F277L	RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L|RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L|RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGAAGAATTCAAACCTCCTG	0.353																																						ENST00000367005.4	1.000000	0.100000	3.500000e-01	1.600000e-01	0.240000	0.275297	0.240000	0.220000																										0				21						c.(829-831)ttC>ttA		REST corepressor 3							110.0	108.0	109.0					1																	211469083		2203	4300	6503	SO:0001583	missense	55758	0	0					g.chr1:211469083C>A	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.831C>A	chr1.hg19:g.211469083C>A	ENSP00000355972:p.Phe277Leu	0					RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L|RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L|RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L	p.F277L	NM_018254.3	NP_060724.1	1	2	3	2.031963	Q9P2K3	RCOR3_HUMAN		8	972	+			B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	0	1	hg19	c.831C>A	CCDS31016.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.201|9.201	1.028368|1.028368	0.19512|0.19512	.|.	.|.	ENSG00000117625|ENSG00000117625	ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763|ENST00000534460	T;T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1;1.1|.	5.11|5.11	5.11|5.11	0.69529|0.69529	5.11|5.11	5.11|5.11	0.69529|0.69529	Homeodomain-like (1);|.	0.197157|.	0.56097|.	D|.	0.000037|.	T|T	0.46308|0.46308	0.1386|0.1386	N|N	0.10837|0.10837	0.055|0.055	0.48762|0.48762	D|D	0.999706|0.999706	B;B;B;B|.	0.10296|.	0.001;0.0;0.003;0.001|.	B;B;B;B|.	0.11329|.	0.001;0.001;0.006;0.003|.	T|T	0.41106|0.41106	-0.9527|-0.9527	10|5	0.05833|.	T|.	0.94|.	-8.0213|-8.0213	17.0544|17.0544	0.86529|0.86529	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	335;277;335;335|.	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4|.	.;RCOR3_HUMAN;.;.|.	L|K	335;335;335;277;95|122	ENSP00000355973:F335L;ENSP00000398558:F335L;ENSP00000413929:F335L;ENSP00000355972:F277L;ENSP00000437048:F95L|.	ENSP00000355972:F277L|.	F|Q	+|+	3|1	2|0	2|0	RCOR3|RCOR3	209535706|209535706	209535706|209535706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.693000|3.693000	0.54735|0.54735	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	TTC|CAA	0.233526		TCGA-HZ-A77Q-01A-11D-A36O-08	0.353	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	0	0	1	2	2	2	2	0	0	0	0	43	43	43	42	1	1.890000	-3.564882	1	0.230000	NM_018254		0	7	7	0	263	260	0		1	0		0	0	43	0	0	0.980209	1.699966e-01	0	0	0	25	0	7	263
FLVCR1	28982	broad.mit.edu	37	1	213061865	213061865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:213061865G>T	ENST00000366971.4	+	7	1540	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	448					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)		TTTGGGTTTTGAATTTGCTGT	0.383																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4	1.000000	0.080000	2.500000e-01	1.200000e-01	0.170000	0.206534	0.170000	0.160000																										0				12						c.(1342-1344)Gaa>Taa		feline leukemia virus subgroup C cellular receptor 1							204.0	188.0	194.0					1																	213061865		2203	4300	6503	SO:0001587	stop_gained	28982	0	0					g.chr1:213061865G>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.1342G>T	chr1.hg19:g.213061865G>T	ENSP00000355938:p.Glu448*	0					FLVCR1_ENST00000483790.1_3'UTR	p.E448*	NM_014053.3	NP_054772.1	1	2	3	2.031963	Q9Y5Y0	FLVC1_HUMAN		7	1540	+			Q1HE16|Q86XY9|Q9NVR9	Nonsense_Mutation	SNP	ENST00000366971.4	0	1	hg19	c.1342G>T	CCDS1510.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.416920|6.416920	0.97550|0.97550	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77582	.|-0.2534	.|3	0.87932|.	D|.	0|.	-27.963|-27.963	19.5996|19.5996	0.95554|0.95554	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	448|246	.|.	ENSP00000355938:E448X|.	E|L	+|+	1|3	0|2	0|2	FLVCR1|FLVCR1	211128488|211128488	211128488|211128488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.238000|9.238000	0.95380|0.95380	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAA|TTG	0.233526		TCGA-HZ-A77Q-01A-11D-A36O-08	0.383	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	0	0	1	2	2	2	2	0	0	0	0	102	102	102	101	1	1.890000	-2.851332	1	0.230000	NM_014053		0	9	9	0	463	455	0		1	0		0	0	102	0	0	0.993848	1.231926e-02	0	0	0	8	0	9	463
KIF2C	11004	broad.mit.edu	37	1	45219408	45219408	+	Missense_Mutation	SNP	G	G	T	rs150604746		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:45219408G>T	ENST00000372224.4	+	7	679	c.566G>T	c.(565-567)cGg>cTg	p.R189L	KIF2C_ENST00000372217.1_Missense_Mutation_p.R135L|KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	189	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTCATAGTTCGGAGGAAATCA	0.398																																						ENST00000372224.4	1.000000	0.120000	4.100000e-01	1.800000e-01	0.280000	0.324755	0.280000	0.260000																										0				34						c.(565-567)cGg>cTg		kinesin family member 2C							58.0	66.0	63.0					1																	45219408		2203	4300	6503	SO:0001583	missense	11004	0	0					g.chr1:45219408G>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.566G>T	chr1.hg19:g.45219408G>T	ENSP00000361298:p.Arg189Leu	0					KIF2C_ENST00000372217.1_Missense_Mutation_p.R135L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L|KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L	p.R189L	NM_006845.3	NP_006836.2	1	2	3	2.042901	Q99661	KIF2C_HUMAN		7	679	+	Acute lymphoblastic leukemia(166;0.155)		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	0	1	hg19	c.566G>T	CCDS512.1	0	.	.	.	.	.	.	.	.	.	.	g	32	5.129278	0.94473	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T;T;T	0.75589	1.03;-0.94;-0.77;0.76;-0.92;-0.95	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.055839	0.64402	D	0.000002	T	0.76630	0.4014	L	0.38175	1.15	0.53005	D	0.999969	B;P;P	0.47762	0.244;0.9;0.839	B;P;P	0.51135	0.098;0.66;0.542	T	0.76908	-0.2785	10	0.59425	D	0.04	.	19.2272	0.93822	0.0:0.0:1.0:0.0	.	148;135;189	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	L	148;189;148;180;76;135	ENSP00000410346:R148L;ENSP00000361298:R189L;ENSP00000361292:R148L;ENSP00000395050:R180L;ENSP00000361296:R76L;ENSP00000361291:R135L	ENSP00000361291:R135L	R	+	2	0	0	KIF2C	44991995	44991995	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.906000	0.87423	2.894000	0.99253	0.655000	0.94253	CGG	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.398	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	0	0	1	2	2	2	2	0	0	0	0	57	57	57	57	1	1.890000	-3.158376	1	0.230000	NM_006845		0	7	7	0	228	220	0		1	0		0	0	57	0	0	0.978562	1.711783e-02	0	0	0	6	0	7	228
ATPAF1	64756	broad.mit.edu	37	1	47101584	47101584	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:47101584C>A	ENST00000371937.4	-	9	955	c.851G>T	c.(850-852)cGg>cTg	p.R284L	ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L|ATPAF1_ENST00000576409.1_Missense_Mutation_p.R307L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	284					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GGTCTCTTTCCGATCAGTAGC	0.458																																					Melanoma(138;107 1777 21672 30337 52312)	ENST00000371937.4	1.000000	0.040000	1.400000e-01	6.000000e-02	0.090000	0.143962	0.090000	0.100000																										0				8						c.(850-852)cGg>cTg		ATP synthase mitochondrial F1 complex assembly factor 1							219.0	218.0	219.0					1																	47101584		2203	4300	6503	SO:0001583	missense	64756	0	0					g.chr1:47101584C>A	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.851G>T	chr1.hg19:g.47101584C>A	ENSP00000361005:p.Arg284Leu	0					ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L|ATPAF1_ENST00000576409.1_Missense_Mutation_p.R307L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L	p.R284L	NM_022745.4	NP_073582.3	1	2	3	2.042901	Q5TC12	ATPF1_HUMAN		9	955	-	Acute lymphoblastic leukemia(166;0.155)		B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	0	1	hg19	c.851G>T		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.059769|3.059769	0.55325|0.55325	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000534216|ENST00000371937;ENST00000492233;ENST00000526821;ENST00000542495;ENST00000329231;ENST00000532925	.|T	.|0.46063	.|0.88	6.02|6.02	4.17|4.17	0.49024|0.49024	6.02|6.02	4.17|4.17	0.49024|0.49024	.|.	.|0.145674	.|0.64402	.|D	.|0.000009	.|T	.|0.54415	.|0.1857	M|M	0.68952|0.68952	2.095|2.095	0.48341|0.48341	D|D	0.999639|0.999639	.|P;D;P	.|0.71674	.|0.867;0.998;0.943	.|P;D;P	.|0.71870	.|0.483;0.975;0.718	.|T	.|0.58451	.|-0.7634	.|10	.|0.02654	.|T	.|1	-10.3176|-10.3176	12.6294|12.6294	0.56649|0.56649	0.0:0.8673:0.0:0.1327|0.0:0.8673:0.0:0.1327	.|.	.|196;216;284	.|B7Z7I6;A8MRA7;Q5TC12	.|.;.;ATPF1_HUMAN	X|L	139|284;88;130;133;216;196	.|ENSP00000361005:R284L	.|ENSP00000330685:R216L	G|R	-|-	1|2	0|0	0|0	ATPAF1|ATPAF1	46874171|46874171	46874171|46874171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.569000|5.569000	0.67391|0.67391	0.885000|0.885000	0.36088|0.36088	-0.145000|-0.145000	0.13849|0.13849	GGA|CGG	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.458	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	244	244	244	243	1	1.890000	-1.727810	0	0.230000	NM_022745		0	10	13	0	931	921	0		1	0		0	0	244	0	0	0.996730	2.851210e-01	0	0	0	91	0	10	931
SPATA6	54558	broad.mit.edu	37	1	48865184	48865184	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:48865184C>A	ENST00000371847.3	-	7	783	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207*|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	207					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.E207*(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTAGGCTGTTCGTAGTTTTTT	0.408																																						ENST00000371847.3	1.000000	0.120000	2.800000e-01	1.600000e-01	0.210000	0.256293	0.210000	0.210000																										1	Substitution - Nonsense(1)	p.E207*(1)	lung(1)	21						c.(619-621)Gaa>Taa		spermatogenesis associated 6							259.0	262.0	261.0					1																	48865184		2203	4300	6503	SO:0001587	stop_gained	54558	0	0					g.chr1:48865184C>A	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.619G>T	chr1.hg19:g.48865184C>A	ENSP00000360913:p.Glu207*	0					SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207*	p.E207*	NM_019073.2	NP_061946.1	1	2	3	2.042901	Q9NWH7	SPAT6_HUMAN		7	783	-			Q5T3N7|Q8WUE6	Nonsense_Mutation	SNP	ENST00000371847.3	0	1	hg19	c.619G>T	CCDS551.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.599110	0.97692	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	.	.	.	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.120087	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5334	0.91000	0.0:1.0:0.0:0.0	.	.	.	.	X	207;207;135;48	.	ENSP00000360907:E48X	E	-	1	0	0	SPATA6	48637771	48637771	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.736000	0.38187	2.611000	0.88343	0.555000	0.69702	GAA	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.408	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	0	0	1	2	2	2	2	0	0	0	0	202	202	202	201	1	1.890000	-2.129320	0	0.230000	NM_019073		0	19	19	0	773	766	0		1	0		0	0	202	0	0	0.999990	2.090854e-02	0	0	0	9	0	19	773
DIO1	1733	broad.mit.edu	37	1	54370394	54370394	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54370394C>A	ENST00000361921.3	+	2	417	c.393C>A	c.(391-393)ttC>ttA	p.F131L	DIO1_ENST00000524406.1_Missense_Mutation_p.F2L|DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000322679.6_Missense_Mutation_p.F131L|DIO1_ENST00000532493.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	131					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CATTTATGTTCAAATTTGACC	0.393																																						ENST00000361921.3	1.000000	0.070000	2.100000e-01	1.100000e-01	0.150000	0.198836	0.150000	0.150000																										0				9						c.(391-393)ttC>ttA		deiodinase, iodothyronine, type I							271.0	244.0	253.0					1																	54370394		1907	4123	6030	SO:0001583	missense	1733	0	0					g.chr1:54370394C>A		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.393C>A	chr1.hg19:g.54370394C>A	ENSP00000354643:p.Phe131Leu	0					DIO1_ENST00000532493.1_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000524406.1_Missense_Mutation_p.F2L|DIO1_ENST00000322679.6_Missense_Mutation_p.F131L|DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000388876.3_Intron	p.F131L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	1	2	3	2.042901	P49895	IOD1_HUMAN		2	417	+			Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	0	1	hg19	c.393C>A	CCDS41339.1	0	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595138	0.28445	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000525202;ENST00000524406	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.57;1.57	5.37	3.49	0.39957	5.37	3.49	0.39957	Thioredoxin-like fold (1);	0.395803	0.20764	N	0.086110	T	0.24470	0.0593	L	0.27053	0.805	0.80722	D	1	B;B;B	0.15930	0.002;0.002;0.015	B;B;B	0.15484	0.002;0.003;0.013	T	0.04946	-1.0916	10	0.11182	T	0.66	.	6.6538	0.22977	0.1409:0.6659:0.1215:0.0717	.	131;131;67	P49895-5;P49895;P49895-2	.;IOD1_HUMAN;.	L	88;131;131;67;2	ENSP00000432797:F88L;ENSP00000354643:F131L;ENSP00000323198:F131L;ENSP00000435725:F67L;ENSP00000434152:F2L	ENSP00000323198:F131L	F	+	3	2	2	DIO1	54142982	54142982	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.814000	0.27239	0.637000	0.30526	0.655000	0.94253	TTC	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.393	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3	0	0	1	2	2	2	2	0	0	0	0	179	179	179	177	1	1.890000	-2.306316	0	0.230000			0	12	12	0	697	690	0		1			0	0	179	0	0	0.999065	0	0	0	0	0	0	12	697
HSPB11	51668	broad.mit.edu	37	1	54395724	54395724	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54395724G>T	ENST00000194214.5	-	3	582	c.193C>A	c.(193-195)Caa>Aaa	p.Q65K	HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K|HSPB11_ENST00000489675.1_5'Flank|HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	65					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						AAGTAACTTTGGATTACAAGC	0.318																																						ENST00000194214.5	1.000000	0.100000	3.100000e-01	1.500000e-01	0.210000	0.261318	0.210000	0.210000																										0				9						c.(193-195)Caa>Aaa		heat shock protein family B (small), member 11							81.0	75.0	77.0					1																	54395724		1794	4060	5854	SO:0001583	missense	51668	0	0					g.chr1:54395724G>T	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.193C>A	chr1.hg19:g.54395724G>T	ENSP00000194214:p.Gln65Lys	0					HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K|HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K|HSPB11_ENST00000489675.1_5'Flank	p.Q65K	NM_016126.2	NP_057210.2	1	2	3	2.042901	Q9Y547	IFT25_HUMAN		3	582	-			A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	0	1	hg19	c.193C>A	CCDS41341.1	0	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798150	0.31777	.	.	ENSG00000081870	ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.96	5.96	0.96718	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.237149	0.43260	D	0.000593	D	0.96614	0.8895	L	0.55103	1.725	0.40074	D	0.976054	B;B	0.28801	0.223;0.052	B;B	0.32724	0.151;0.038	D	0.95288	0.8392	10	0.13853	T	0.58	-16.6923	15.9014	0.79380	0.0:0.0:1.0:0.0	.	65;65	A6NIR2;Q9Y547	.;HSB11_HUMAN	K	65	ENSP00000194214:Q65K;ENSP00000360429:Q65K;ENSP00000360428:Q65K;ENSP00000360427:Q65K	ENSP00000194214:Q65K	Q	-	1	0	0	HSPB11	54168312	54168312	1.000000	0.71417	0.831000	0.32960	0.703000	0.40648	5.895000	0.69814	2.833000	0.97629	0.591000	0.81541	CAA	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.318	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	0	0	1	2	2	2	2	0	0	0	0	85	85	85	85	1	1.890000	-2.848921	1	0.230000	NM_016126		0	9	9	0	375	360	0		1	0		0	0	85	0	0	0.993306	7.256357e-01	0	0	0	106	0	9	375
LEPR	3953	broad.mit.edu	37	1	66085628	66085628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:66085628G>T	ENST00000349533.6	+	17	2598	c.2413G>T	c.(2413-2415)Gag>Tag	p.E805*	LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCCCATTGAGAAGTACCA	0.279																																						ENST00000349533.6	1.000000	0.070000	2.300000e-01	1.100000e-01	0.150000	0.205219	0.150000	0.150000																										0				36						c.(2413-2415)Gag>Tag		leptin receptor							74.0	74.0	74.0					1																	66085628		2203	4296	6499	SO:0001587	stop_gained	3953	0	0					g.chr1:66085628G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2413G>T	chr1.hg19:g.66085628G>T	ENSP00000330393:p.Glu805*	0					LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*	p.E805*	NM_002303.5	NP_002294.2	1	2	3	2.042901	O15243	OBRG_HUMAN		17	2598	+			Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	0	1	hg19	c.2413G>T	CCDS631.1	0	.	.	.	.	.	.	.	.	.	.	G	44	10.974545	0.99497	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-18.6903	19.9253	0.97100	0.0:0.0:1.0:0.0	.	.	.	.	X	805	.	ENSP00000340884:E805X	E	+	1	0	0	LEPR	65858216	65858216	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.292000	0.65673	2.692000	0.91855	0.650000	0.86243	GAG	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.279	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	0	1	2	2	2	2	0	0	0	0	93	93	93	92	1	1.890000	-3.313586	1	0.230000	NM_002303		0	9	9	0	513	499	0		1	0		0	0	93	0	0	0.993540	3.037624e-02	0	0	0	14	0	9	513
DEPDC1	55635	broad.mit.edu	37	1	68944984	68944984	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:68944984C>A	ENST00000456315.2	-	10	2069	c.1955G>T	c.(1954-1956)cGa>cTa	p.R652L	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	652	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TAACACACATCGAGAAAAGGT	0.333																																						ENST00000456315.2	1.000000	0.100000	3.800000e-01	1.600000e-01	0.250000	0.296254	0.250000	0.220000																										0				13						c.(1954-1956)cGa>cTa		DEP domain containing 1							56.0	51.0	52.0					1																	68944984		2203	4298	6501	SO:0001583	missense	55635	0	0					g.chr1:68944984C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1955G>T	chr1.hg19:g.68944984C>A	ENSP00000412292:p.Arg652Leu	0					RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L	p.R652L	NM_001114120.1	NP_001107592.1	1	2	3	2.042901	Q5TB30	DEP1A_HUMAN		10	2069	-			A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	0	1	hg19	c.1955G>T	CCDS44159.1	0	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981842	0.93044	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.40476	1.03;1.03	5.67	5.67	0.87782	5.67	5.67	0.87782	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.060315	0.64402	D	0.000001	T	0.61211	0.2329	M	0.76328	2.33	0.41882	D	0.990322	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.979	T	0.63651	-0.6589	10	0.66056	D	0.02	0.652	19.76	0.96311	0.0:1.0:0.0:0.0	.	652;368	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	L	652;368	ENSP00000412292:R652L;ENSP00000360005:R368L	ENSP00000360005:R368L	R	-	2	0	0	DEPDC1	68717572	68717572	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	6.996000	0.76263	2.670000	0.90874	0.585000	0.79938	CGA	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.333	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	0	0	1	2	2	2	2	0	0	0	0	49	49	49	49	1	1.890000	-3.131989	1	0.230000	NM_017779		0	6	6	0	223	215	0		1	0		0	0	49	0	0	0.961555	0	0	0	0	1	0	6	223
LPHN2	23266	broad.mit.edu	37	1	82436119	82436119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:82436119C>A	ENST00000370728.1	+	18	3488	c.2843C>A	c.(2842-2844)tCa>tAa	p.S948*	LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*			O95490	LPHN2_HUMAN	latrophilin 2	948					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGTGAATATTCAAGGAAAAAA	0.388																																						ENST00000370728.1	1.000000	0.100000	2.900000e-01	1.500000e-01	0.200000	0.252461	0.200000	0.200000																										0				119						c.(2842-2844)tCa>tAa		latrophilin 2							133.0	133.0	133.0					1																	82436119		2203	4300	6503	SO:0001587	stop_gained	23266	0	0					g.chr1:82436119C>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2843C>A	chr1.hg19:g.82436119C>A	ENSP00000359763:p.Ser948*	0					LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948*	p.S948*			1	2	3	2.042901	O95490	LPHN2_HUMAN		18	3488	+			A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	ENST00000370728.1	0	1	hg19	c.2843C>A		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.738490|12.738490	0.99692|0.99692	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.32971|.	0.0847|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33163|.	-0.9879|.	3|.	.|0.02654	.|T	.|1	.|.	20.1133|20.1133	0.97917|0.97917	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	816|873;948;948;948;948;935;935;935;935;935;948;935;948;948	.|.	.|ENSP00000271029:S948X	Q|S	+|+	1|2	0|0	0|0	LPHN2|LPHN2	82208707|82208707	82208707|82208707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	CAA|TCA	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.388	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	0	0	1	2	2	2	2	0	0	0	0	110	110	110	108	1	1.890000	-2.947842	1	0.230000	NM_012302		0	11	11	0	471	468	0		1	0		0	0	110	0	0	0.998311	6.099434e-02	0	0	0	16	0	11	471
HFM1	164045	broad.mit.edu	37	1	91816409	91816409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:91816409C>A	ENST00000370425.3	-	18	2190	c.2092G>T	c.(2092-2094)Gaa>Taa	p.E698*	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	698	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTAAATGTTCAATAAGATGT	0.308																																						ENST00000370425.3	1.000000	0.100000	2.900000e-01	1.400000e-01	0.200000	0.248575	0.200000	0.190000																										0				75						c.(2092-2094)Gaa>Taa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							119.0	110.0	113.0					1																	91816409		1836	4089	5925	SO:0001587	stop_gained	164045	0	0					g.chr1:91816409C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2092G>T	chr1.hg19:g.91816409C>A	ENSP00000359454:p.Glu698*	0					HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377*	p.E698*	NM_001017975.3	NP_001017975.3	1	2	3	2.042901	A2PYH4	HFM1_HUMAN		18	2190	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	ENST00000370425.3	0	1	hg19	c.2092G>T	CCDS30769.2	0	.	.	.	.	.	.	.	.	.	.	C	40	8.503240	0.98838	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421	.	.	.	5.32	4.4	0.53042	5.32	4.4	0.53042	.	0.000000	0.46442	U	0.000299	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7422	0.77910	0.1376:0.8624:0.0:0.0	.	.	.	.	X	698;377;382	.	ENSP00000359450:E382X	E	-	1	0	0	HFM1	91588997	91588997	1.000000	0.71417	0.986000	0.45419	0.768000	0.43524	7.720000	0.84759	1.355000	0.45865	0.460000	0.39030	GAA	0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	0	0	1	2	2	2	2	0	0	0	0	87	87	87	87	1	1.890000	-2.677405	1	0.230000	NM_001017975		0	10	10	0	440	437	0		1			0	0	87	0	0	0.996809	0	0	0	0	0	0	10	440
ABCD3	5825	broad.mit.edu	37	1	94956786	94956786	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:94956786C>A	ENST00000370214.4	+	16	1393	c.1369C>A	c.(1369-1371)Cga>Aga	p.R457R	ABCD3_ENST00000454898.2_Silent_p.R481R|ABCD3_ENST00000394233.2_Silent_p.R347R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Silent_p.R384R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	457	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGTTTTGATCCGAGACCTTAA	0.264																																						ENST00000370214.4	1.000000	0.060000	2.300000e-01	1.000000e-01	0.150000	0.198929	0.150000	0.140000																										0				26						c.(1369-1371)Cga>Aga		ATP-binding cassette, sub-family D (ALD), member 3							51.0	53.0	52.0					1																	94956786		2202	4295	6497	SO:0001819	synonymous_variant	5825	0	0					g.chr1:94956786C>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1369C>A	chr1.hg19:g.94956786C>A		0					ABCD3_ENST00000394233.2_Silent_p.R347R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Silent_p.R481R|ABCD3_ENST00000536817.1_Silent_p.R384R	p.R457R	NM_002858.3	NP_002849.1	1	2	3	2.042901	P28288	ABCD3_HUMAN		16	1393	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	0	1	hg19	c.1369C>A	CCDS749.1	0																																																																																								0.235277		TCGA-HZ-A77Q-01A-11D-A36O-08	0.264	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	0	0	1	2	2	2	2	0	0	0	0	83	83	83	82	1	1.890000	-2.680164	1	0.230000	NM_002858		0	7	7	0	427	414	0		1	0		0	0	83	0	0	0.978583	2.738249e-01	0	0	0	55	0	7	427
LYST	1130	broad.mit.edu	37	1	235866228	235866228	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:235866228C>A	ENST00000389794.3	-	45	10367	c.10193G>T	c.(10192-10194)cGa>cTa	p.R3398L	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3398L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTAGCGCTCGTCTCTGAAC	0.453																																						ENST00000389794.3	1.000000	0.070000	2.000000e-01	1.000000e-01	0.140000	0.173340	0.140000	0.140000																										0				162						c.(10192-10194)cGa>cTa		lysosomal trafficking regulator							139.0	141.0	140.0					1																	235866228		2203	4300	6503	SO:0001583	missense	1130	0	0					g.chr1:235866228C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10193G>T	chr1.hg19:g.235866228C>A	ENSP00000374444:p.Arg3398Leu	0					LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3398L	p.R3398L			1	2	3	2.031963	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)	45	10367	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	0	1	hg19	c.10193G>T	CCDS31062.1	0	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384645	0.61845	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.80123	-1.34;-1.34	5.52	5.52	0.82312	5.52	5.52	0.82312	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	N	0.21583	0.68	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.85655	0.1285	10	0.72032	D	0.01	.	19.4447	0.94841	0.0:1.0:0.0:0.0	.	3398	Q99698	LYST_HUMAN	L	3398	ENSP00000374444:R3398L;ENSP00000374443:R3398L	ENSP00000374443:R3398L	R	-	2	0	0	LYST	233932851	233932851	1.000000	0.71417	0.557000	0.28306	0.141000	0.21300	7.487000	0.81328	2.608000	0.88229	0.491000	0.48974	CGA	0.233526		TCGA-HZ-A77Q-01A-11D-A36O-08	0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	0	0	1	2	2	2	2	0	0	0	0	192	192	192	190	1	1.890000	-2.039163	0	0.230000			0	11	12	0	688	676	0		1	0		0	0	192	0	0	0.998192	2.805679e-02	0	0	0	15	0	11	688
PTPRA	5786	broad.mit.edu	37	20	3016525	3016525	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:3016525C>G	ENST00000216877.6	+	21	2509	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M|PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M|PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	712	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGATCAGCATCATCGCCGCCG	0.587																																						ENST00000216877.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				17						c.(2107-2109)atC>atG		protein tyrosine phosphatase, receptor type, A							100.0	91.0	94.0					20																	3016525		2203	4300	6503	SO:0001583	missense	5786	0	0					g.chr20:3016525C>G		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2109C>G	chr20.hg19:g.3016525C>G	ENSP00000216877:p.Ile703Met	1					PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M	p.I703M	NM_080840.2	NP_543030.1	2	2	4	2.124551	P18433	PTPRA_HUMAN		21	2509	+			A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	1	1	hg19	c.2109C>G	CCDS13039.1	1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091247	0.55968	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.57	4.63	0.57726	5.57	4.63	0.57726	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.060068	0.64402	U	0.000008	T	0.13030	0.0316	N	0.13140	0.3	0.54753	D	0.999987	B;P;B	0.49559	0.024;0.925;0.13	B;P;B	0.53549	0.03;0.729;0.158	T	0.12319	-1.0552	10	0.42905	T	0.14	.	14.6291	0.68643	0.0:0.9297:0.0:0.0703	.	723;712;703	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	M	712;703;712;568;322;723;703;703	ENSP00000369756:I712M;ENSP00000216877:I703M;ENSP00000382787:I712M;ENSP00000351559:I568M;ENSP00000393553:I723M;ENSP00000314568:I703M;ENSP00000348468:I703M	ENSP00000216877:I703M	I	+	3	3	3	PTPRA	2964525	2964525	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.486000	0.45259	1.339000	0.45563	0.563000	0.77884	ATC	0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.587	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3	1	0	1	2	2	2	2	0	0	0	0	129	129	129	129	1	1.890000	-20.000000	1	0.230000			0	60	60	0	274	271	1		1	1		0	0	129	0	0	1.000000	1	0	57	0	166	0	60	274
SAMHD1	25939	broad.mit.edu	37	20	35533826	35533826	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:35533826G>T	ENST00000262878.4	-	12	1550	c.1351C>A	c.(1351-1353)Cgt>Agt	p.R451S		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	451					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATAGATTACGGTATTCAATT	0.348																																						ENST00000262878.4	1.000000	0.080000	1	1.200000e-01	0.160000	0.302335	0.160000	0.150000																										0				20						c.(1351-1353)Cgt>Agt		SAM domain and HD domain 1							191.0	183.0	185.0					20																	35533826		2203	4300	6503	SO:0001583	missense	25939	0	0					g.chr20:35533826G>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1351C>A	chr20.hg19:g.35533826G>T	ENSP00000262878:p.Arg451Ser	1						p.R451S	NM_015474.3	NP_056289.2	2	2	4	2.124551	Q9Y3Z3	SAMH1_HUMAN		12	1550	-		Myeloproliferative disorder(115;0.00878)	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	0	1	hg19	c.1351C>A	CCDS13288.1	0	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144911	0.77888	.	.	ENSG00000101347	ENST00000262878	D	0.96830	-4.14	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.99533	1.0961	10	0.87932	D	0	-9.9304	18.2234	0.89909	0.0:0.0:1.0:0.0	.	451	Q9Y3Z3	SAMH1_HUMAN	S	451	ENSP00000262878:R451S	ENSP00000262878:R451S	R	-	1	0	0	SAMHD1	34967240	34967240	1.000000	0.71417	0.300000	0.25030	0.629000	0.37895	7.652000	0.83633	2.644000	0.89710	0.462000	0.41574	CGT	0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.348	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	0	0	1	2	2	2	2	0	0	0	0	158	158	158	157	1	1.890000	-2.021688	0	0.230000	NM_015474		0	13	12	0	752	739	0		1	0		0	0	158	0	0	0.999472	6.323137e-01	0	0	0	122	0	13	752
ZNFX1	57169	broad.mit.edu	37	20	47887028	47887028	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:47887028G>T	ENST00000396105.1	-	3	1567	c.1321C>A	c.(1321-1323)Cgc>Agc	p.R441S	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	441							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCTGCCAGCGAACAAACTTC	0.448																																						ENST00000396105.1	1.000000	0.060000	1	9.000000e-02	0.140000	0.279811	0.140000	0.120000																										0				60						c.(1321-1323)Cgc>Agc		zinc finger, NFX1-type containing 1							159.0	154.0	156.0					20																	47887028		2203	4300	6503	SO:0001583	missense	57169	0	0					g.chr20:47887028G>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1321C>A	chr20.hg19:g.47887028G>T	ENSP00000379412:p.Arg441Ser	1					ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S	p.R441S	NM_021035.2	NP_066363.1	2	2	4	2.124551	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	3	1567	-			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	0	1	hg19	c.1321C>A	CCDS13417.1	0	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160937	0.57368	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87256	-1.97;-2.23;-2.23;-0.93;-1.64	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.215288	0.48286	D	0.000200	D	0.91855	0.7422	M	0.66939	2.045	0.58432	D	0.99999	D	0.76494	0.999	D	0.65140	0.932	D	0.88693	0.3210	10	0.20519	T	0.43	-23.2852	18.7272	0.91718	0.0:0.0:1.0:0.0	.	441	Q9P2E3	ZNFX1_HUMAN	S	441;441;441;441;441;245	ENSP00000360819:R441S;ENSP00000360817:R441S;ENSP00000379412:R441S;ENSP00000360809:R441S;ENSP00000413800:R245S	ENSP00000360809:R441S	R	-	1	0	0	ZNFX1	47320435	47320435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.651000	0.74372	2.773000	0.95371	0.655000	0.94253	CGC	0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.448	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	0	0	1	2	2	2	2	0	0	0	0	215	215	215	212	1	1.890000	-2.278961	0	0.230000	NM_021035		0	10	11	0	707	693	0		1	0		0	0	215	0	0	0.996604	1.431234e-01	0	0	0	43	0	10	707
ZNF217	7764	broad.mit.edu	37	20	52193233	52193233	+	Silent	SNP	G	G	T	rs377601068		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:52193233G>T	ENST00000371471.2	-	4	2495	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	ZNF217_ENST00000302342.3_Silent_p.S690S|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	690					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGCCCCCACGGATAAATTTA	0.428																																						ENST00000371471.2	1.000000	0.080000	1	1.200000e-01	0.180000	0.312035	0.180000	0.170000																										0				50						c.(2068-2070)tcC>tcA		zinc finger protein 217							90.0	99.0	96.0					20																	52193233		2203	4300	6503	SO:0001819	synonymous_variant	7764	0	0					g.chr20:52193233G>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2070C>A	chr20.hg19:g.52193233G>T		1					RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Silent_p.S690S	p.S690S			2	2	4	2.124551	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)	4	2495	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	0	1	hg19	c.2070C>A	CCDS13443.1	0																																																																																								0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.428	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	0	0	1	2	2	2	2	0	0	0	0	165	165	165	162	1	1.890000	-2.061245	0	0.230000	NM_006526		0	11	12	0	601	589	0		1	0		0	0	165	0	0	0.998178	1.647522e-02	0	0	0	8	0	11	601
HUNK	30811	broad.mit.edu	37	21	33312484	33312484	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:33312484A>G	ENST00000270112.2	+	3	922	c.562A>G	c.(562-564)Aag>Gag	p.K188E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGAGACTTGAAGATAGAGAA	0.299																																						ENST00000270112.2	0.650000	0.220000	5.300000e-01	3.000000e-01	0.400000	0.423522	0.400000	0.400000																										0				30						c.(562-564)Aag>Gag		hormonally up-regulated Neu-associated kinase							125.0	121.0	123.0					21																	33312484		2201	4298	6499	SO:0001583	missense	30811	0	0					g.chr21:33312484A>G	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.562A>G	chr21.hg19:g.33312484A>G	ENSP00000270112:p.Lys188Glu	0						p.K188E	NM_014586.1	NP_055401.1	0	0	0	1.913835	P57058	HUNK_HUMAN		3	922	+				Missense_Mutation	SNP	ENST00000270112.2	1	1	hg19	c.562A>G	CCDS13610.1	0	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698055	0.88830	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	D;D	0.91068	-2.78;-2.78	5.22	5.22	0.72569	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.99863	4.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	-36.0584	15.5563	0.76196	1.0:0.0:0.0:0.0	.	188	P57058	HUNK_HUMAN	E	188;73	ENSP00000270112:K188E;ENSP00000411860:K73E	ENSP00000270112:K188E	K	+	1	0	0	HUNK	32234355	32234355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.186000	0.89706	2.317000	0.78254	0.460000	0.39030	AAG	0.183024		TCGA-HZ-A77Q-01A-11D-A36O-08	0.299	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	1	0	1	2	2	2	2	0	0	0	0	51	51	51	49	1	1.890000	-14.509870	1	0.230000	NM_014586		0	12	12	0	233	231	0		1	0		0	0	51	0	0	0.999141	8.555444e-03	0	0	0	3	0	12	233
TTC3	7267	broad.mit.edu	37	21	38501361	38501361	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:38501361C>A	ENST00000399017.2	+	16	4103	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L	TTC3_ENST00000540756.1_Missense_Mutation_p.F142L|TTC3_ENST00000354749.2_Missense_Mutation_p.F452L|TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	452					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGAAAAGTTCAGGTATGTTT	0.299																																					Ovarian(38;194 1649 35661)	ENST00000399017.2	0.310000	0.070000	2.400000e-01	1.200000e-01	0.170000	0.186016	0.170000	0.170000																										0				75						c.(1354-1356)ttC>ttA		tetratricopeptide repeat domain 3							80.0	86.0	84.0					21																	38501361		2203	4296	6499	SO:0001583	missense	7267	0	0					g.chr21:38501361C>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1356C>A	chr21.hg19:g.38501361C>A	ENSP00000381981:p.Phe452Leu	0					TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000354749.2_Missense_Mutation_p.F452L|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L	p.F452L	NM_003316.3	NP_003307.3	0	0	0	1.913835	P53804	TTC3_HUMAN		16	4103	+		Myeloproliferative disorder(46;0.0412)	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	0	1	hg19	c.1356C>A	CCDS13651.1	0	.	.	.	.	.	.	.	.	.	.	C	5.465	0.270881	0.10349	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.38722	1.52;1.52;1.52;3.27;1.12;3.27;3.27	5.33	0.0492	0.14288	5.33	0.0492	0.14288	.	1.304020	0.05165	N	0.498569	T	0.18882	0.0453	N	0.08118	0	0.09310	N	0.999995	B;B	0.14012	0.0;0.009	B;B	0.09377	0.0;0.004	T	0.18398	-1.0338	10	0.11485	T	0.65	10.7736	2.9223	0.05773	0.2841:0.3761:0.2536:0.0862	.	142;452	B4DSZ9;P53804	.;TTC3_HUMAN	L	452;452;434;452;142;452;452	ENSP00000403943:F452L;ENSP00000408456:F452L;ENSP00000391891:F434L;ENSP00000347889:F452L;ENSP00000442875:F142L;ENSP00000381981:F452L;ENSP00000346791:F452L	ENSP00000346791:F452L	F	+	3	2	2	TTC3	37423231	37423231	0.076000	0.21285	0.369000	0.25952	0.767000	0.43475	-0.036000	0.12185	0.323000	0.23307	0.655000	0.94253	TTC	0.183024		TCGA-HZ-A77Q-01A-11D-A36O-08	0.299	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1	0	0	1	2	2	2	2	0	0	0	0	90	90	90	89	1	1.890000	-3.302512	1	0.230000			0	8	8	0	382	373	0		1	0		0	0	90	0	0	0.988492	1.866262e-01	0	0	0	34	0	8	382
BRWD1	54014	broad.mit.edu	37	21	40578076	40578076	+	Missense_Mutation	SNP	C	C	A	rs147847700	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:40578076C>A	ENST00000333229.2	-	37	4649	c.4322G>T	c.(4321-4323)cGg>cTg	p.R1441L	BRWD1_ENST00000342449.3_Missense_Mutation_p.R1441L|BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAATTTTGCCGTTGCTTGAA	0.328																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000333229.2	0.160000	0.040000	1.300000e-01	6.000000e-02	0.090000	0.101578	0.090000	0.090000																										0				58						c.(4321-4323)cGg>cTg		bromodomain and WD repeat domain containing 1							126.0	133.0	130.0					21																	40578076		2203	4300	6503	SO:0001583	missense	54014	0	0					g.chr21:40578076C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4322G>T	chr21.hg19:g.40578076C>A	ENSP00000330753:p.Arg1441Leu	0					BRWD1_ENST00000342449.3_Missense_Mutation_p.R1441L|BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L	p.R1441L	NM_018963.4	NP_061836.2	0	0	0	1.913835	Q9NSI6	BRWD1_HUMAN		37	4649	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	0	1	hg19	c.4322G>T	CCDS13662.1	0	.	.	.	.	.	.	.	.	.	.	C	9.592	1.126374	0.20959	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	T;T;T	0.59224	0.28;0.31;0.38	4.87	2.09	0.27110	4.87	2.09	0.27110	.	0.173450	0.35970	N	0.002879	T	0.49150	0.1540	L	0.58101	1.795	0.09310	N	1	P;P;B	0.41546	0.632;0.754;0.358	B;B;B	0.38428	0.273;0.256;0.067	T	0.44952	-0.9294	10	0.72032	D	0.01	-0.1605	7.9196	0.29837	0.0:0.6:0.0:0.4	.	1441;1441;1441	Q9NSI6-3;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	L	1441;1441;1441;397	ENSP00000330753:R1441L;ENSP00000344333:R1441L;ENSP00000370178:R1441L	ENSP00000330753:R1441L	R	-	2	0	0	BRWD1	39499946	39499946	0.025000	0.19082	0.345000	0.25642	0.581000	0.36288	0.356000	0.20181	0.141000	0.18875	-0.258000	0.10820	CGG	0.183024		TCGA-HZ-A77Q-01A-11D-A36O-08	0.328	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	0	0	1	2	2	2	2	0	0	0	0	245	245	245	240	1	1.890000	-1.856495	0	0.230000	NM_033656		0	10	9	0	871	853	0		1	0		0	0	245	0	0	0.996507	5.672620e-03	0	0	0	9	0	10	871
PCP4	5121	broad.mit.edu	37	21	41300976	41300976	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:41300976G>A	ENST00000328619.5	+	3	314	c.129G>A	c.(127-129)gcG>gcA	p.A43A	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	43	IQ.				central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.A43A(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AACGTGCAGCGGTGGCCATTC	0.463																																						ENST00000328619.5	0.820000	0.390000	7.100000e-01	4.800000e-01	0.580000	0.600985	0.580000	0.580000																										1	Substitution - coding silent(1)	p.A43A(1)	large_intestine(1)	4						c.(127-129)gcG>gcA		Purkinje cell protein 4							102.0	94.0	97.0					21																	41300976		2203	4300	6503	SO:0001819	synonymous_variant	5121	1	121412	33				g.chr21:41300976G>A	X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.129G>A	chr21.hg19:g.41300976G>A		0					PCP4_ENST00000468717.1_3'UTR	p.A43A	NM_006198.2	NP_006189.2	0	0	0	1.913835	P48539	PCP4_HUMAN		3	314	+		Prostate(19;2.65e-06)|all_epithelial(19;0.138)	A6NDJ9|Q6ICS4|Q93059	Silent	SNP	ENST00000328619.5	1	1	hg19	c.129G>A	CCDS33563.1	0																																																																																								0.183024		TCGA-HZ-A77Q-01A-11D-A36O-08	0.463	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195025.1	1	0	1	2	2	2	2	0	0	0	0	109	109	109	109	1	1.890000	-2.598640	1	0.230000	NM_006198		0	25	25	0	323	321	0		1	0		0	0	109	0	0	1.000000	1.151540e-01	0	1	0	7	0	25	323
POFUT2	23275	broad.mit.edu	37	21	46687600	46687600	+	Silent	SNP	G	G	T	rs372635250		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:46687600G>T	ENST00000349485.5	-	8	1067	c.1041C>A	c.(1039-1041)ccC>ccA	p.P347P	POFUT2_ENST00000331343.7_Silent_p.P347P|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	347					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TCACCATCTCGGGTAACAGCT	0.517																																						ENST00000349485.5	0.210000	0.060000	1.700000e-01	9.000000e-02	0.120000	0.132763	0.120000	0.120000																										0				20						c.(1039-1041)ccC>ccA		protein O-fucosyltransferase 2							174.0	171.0	172.0					21																	46687600		2203	4300	6503	SO:0001819	synonymous_variant	23275	0	0					g.chr21:46687600G>T	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1041C>A	chr21.hg19:g.46687600G>T		0					POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Silent_p.P347P	p.P347P	NM_133635.4	NP_598368.2	0	0	0	1.913835	Q9Y2G5	OFUT2_HUMAN		8	1067	-			Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	0	1	hg19	c.1041C>A	CCDS13719.1	0																																																																																								0.183024		TCGA-HZ-A77Q-01A-11D-A36O-08	0.517	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	0	0	1	2	2	2	2	0	0	0	0	260	260	260	254	1	1.890000	-1.732341	0	0.230000	NM_015227		0	12	11	0	784	766	0		1	0		0	0	260	0	0	0.998969	1.298533e-01	0	0	0	38	0	12	784
KLHL22	84861	broad.mit.edu	37	22	20819390	20819390	+	Silent	SNP	C	C	T	rs370087004		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:20819390C>T	ENST00000328879.4	-	4	1023	c.867G>A	c.(865-867)ccG>ccA	p.P289P	KLHL22_ENST00000440659.2_Silent_p.P146P	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	289					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCTCCGTTTGCGGGCTCTGCA	0.632																																						ENST00000328879.4	1.000000	0.080000	4.600000e-01	1.400000e-01	0.250000	0.339555	0.250000	0.210000																										0				20						c.(865-867)ccG>ccA		kelch-like family member 22		C		0,4406		0,0,2203	46.0	46.0	46.0		867	-10.8	0.0	22		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL22	NM_032775.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		289/635	20819390	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84861	0	0					g.chr22:20819390C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.867G>A	chr22.hg19:g.20819390C>T		1					KLHL22_ENST00000440659.2_Silent_p.P146P	p.P289P	NM_032775.3	NP_116164.2	0	2	2	1.913390	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)	4	1023	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	0	1	hg19	c.867G>A	CCDS13780.1	0																																																																																								0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.632	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	0	0	1	2	2	2	2	0	0	0	0	66	66	66	65	1	1.890000	-3.569249	1	0.230000	NM_032775		0	4	4	0	160	158	0		1	0		0	0	66	0	0	0.888455	1.998660e-01	0	0	0	27	0	4	160
MORC2	22880	broad.mit.edu	37	22	31328956	31328956	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:31328956G>A	ENST00000397641.3	-	22	2850	c.2442C>T	c.(2440-2442)gcC>gcT	p.A814A	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Silent_p.A752A			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	814						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCACCTCCACGGCTGTGACAC	0.572																																						ENST00000397641.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2440-2442)gcC>gcT		MORC family CW-type zinc finger 2							285.0	256.0	266.0					22																	31328956		2203	4300	6503	SO:0001819	synonymous_variant	22880	1	121412	34				g.chr22:31328956G>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2442C>T	chr22.hg19:g.31328956G>A		1					MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Silent_p.A752A	p.A814A			0	2	2	1.913390	Q9Y6X9	MORC2_HUMAN		22	2850	-			B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	1	1	hg19	c.2442C>T		1																																																																																								0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.572	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	1	0	0	2	2	2	2	0	0	0	0	226	226	226	223	1	1.890000	-3.195416	1	0.230000	NM_014941		0	155	152	0	662	647	1		1	1		0	0	226	0	0	1.000000	9.999958e-01	0	20	0	56	0	155	662
LRP1B	53353	broad.mit.edu	37	2	141816539	141816539	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141816539G>T	ENST00000389484.3	-	9	2292	c.1321C>A	c.(1321-1323)Cga>Aga	p.R441R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	441					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTAAATCGGTTTATCCTT	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.100000	1	1.500000e-01	0.230000	0.402551	0.230000	0.200000																										0				606						c.(1321-1323)Cga>Aga		low density lipoprotein receptor-related protein 1B							102.0	105.0	104.0					2																	141816539		2203	4299	6502	SO:0001819	synonymous_variant	53353	0	0					g.chr2:141816539G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1321C>A	chr2.hg19:g.141816539G>T		1	TSP Lung(27;0.18)					p.R441R	NM_018557.2	NP_061027.2	1	2	3	2.135298	Q9NZR2	LRP1B_HUMAN		9	2292	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	0	1	hg19	c.1321C>A	CCDS2182.1	0																																																																																								0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1	2	2	2	2	0	0	0	0	115	115	115	115	1	1.890000	-2.879461	1	0.230000	NM_018557		0	11	9	0	494	486	0		1			0	0	115	0	0	0.998173	0	0	0	0	0	0	11	494
TPO	7173	broad.mit.edu	37	2	1497610	1497610	+	Missense_Mutation	SNP	G	G	A	rs375314609		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:1497610G>A	ENST00000345913.4	+	11	1896	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	TPO_ENST00000382201.3_Missense_Mutation_p.R545H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000382198.1_Missense_Mutation_p.R429H|TPO_ENST00000346956.3_Missense_Mutation_p.R602H|TPO_ENST00000329066.4_Missense_Mutation_p.R602H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCTGCCTCGCCTGGAGACC	0.577																																						ENST00000345913.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999332	0.990000	1.000000																										0				95						c.(1804-1806)cGc>cAc		thyroid peroxidase	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	52.0	48.0	49.0		1805,1805,1634,1634,1805,1286	4.0	0.0	2		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	602/934,602/934,545/877,545/877,602/890,429/761	1497610	1,13005	2203	4300	6503	SO:0001583	missense	7173	0	0					g.chr2:1497610G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1805G>A	chr2.hg19:g.1497610G>A	ENSP00000318820:p.Arg602His	1					TPO_ENST00000382198.1_Missense_Mutation_p.R429H|TPO_ENST00000329066.4_Missense_Mutation_p.R602H|TPO_ENST00000382201.3_Missense_Mutation_p.R545H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000346956.3_Missense_Mutation_p.R602H	p.R602H	NM_000547.5	NP_000538.3	1	2	3	2.135298	P07202	PERT_HUMAN		11	1896	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	0	1	hg19	c.1805G>A	CCDS1643.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.53|13.53	2.266050|2.266050	0.40095|0.40095	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.70749	.|-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.84|4.84	3.96|3.96	0.45880|0.45880	4.84|4.84	3.96|3.96	0.45880|0.45880	.|.	.|0.089088	.|0.64402	.|D	.|0.000001	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.84773|0.84773	2.715|2.715	0.36481|0.36481	D|D	0.867864|0.867864	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.78314	.|0.984;0.967;0.976;0.991	D|D	0.84961|0.84961	0.0877|0.0877	5|10	.|0.66056	.|D	.|0.02	-13.2581|-13.2581	6.5333|6.5333	0.22339|0.22339	0.0741:0.1302:0.6611:0.1345|0.0741:0.1302:0.6611:0.1345	.|.	.|602;429;545;602	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	T|H	77|602;602;602;429;602;545;429;531;76	.|ENSP00000337263:R602H;ENSP00000318820:R602H;ENSP00000263886:R602H;ENSP00000332044:R429H;ENSP00000329869:R602H;ENSP00000371636:R545H;ENSP00000371633:R429H;ENSP00000405788:R531H;ENSP00000419461:R76H	.|ENSP00000329869:R602H	A|R	+|+	1|2	0|0	0|0	TPO|TPO	1476617|1476617	1476617|1476617	0.002000|0.002000	0.14202|0.14202	0.002000|0.002000	0.10522|0.10522	0.101000|0.101000	0.19017|0.19017	0.772000|0.772000	0.26647|0.26647	1.151000|1.151000	0.42436|0.42436	0.561000|0.561000	0.74099|0.74099	GCC|CGC	0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	0	0	1	2	14	2	2	1	1	1	1	34	34	34	34	1	1.890000	-20.000000	1	0.230000	NM_000547		0	24	23	0	115	114	0		1	0		1	0	34	0	0	0.968407	0	0	0	0	1	0	24	115
ARHGAP15	55843	broad.mit.edu	37	2	144314047	144314047	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:144314047C>A	ENST00000295095.6	+	11	1163	c.996C>A	c.(994-996)gtC>gtA	p.V332V	RP11-570L15.2_ENST00000546678.1_RNA|RP11-570L15.1_ENST00000553076.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	332	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATTTATTGTCAACCAAGGTA	0.318																																						ENST00000295095.6	1.000000	0.090000	1	1.300000e-01	0.180000	0.373270	0.180000	0.170000																										0				34						c.(994-996)gtC>gtA		Rho GTPase activating protein 15							166.0	171.0	169.0					2																	144314047		2203	4297	6500	SO:0001819	synonymous_variant	55843	0	0					g.chr2:144314047C>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.996C>A	chr2.hg19:g.144314047C>A		1					RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	p.V332V	NM_018460.3	NP_060930.3	1	2	3	2.135298	Q53QZ3	RHG15_HUMAN		11	1163	+			Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	0	1	hg19	c.996C>A	CCDS2184.1	0																																																																																								0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.318	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	0	0	1	2	2	2	2	0	0	0	0	156	156	156	152	1	1.890000	-2.468838	0	0.230000	NM_018460		0	15	15	0	808	789	0		1	0		0	0	156	0	0	0.999845	2.529782e-01	0	0	0	50	0	15	808
NEB	4703	broad.mit.edu	37	2	152484296	152484296	+	Missense_Mutation	SNP	C	C	A	rs201965465		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152484296C>A	ENST00000172853.10	-	65	9302	c.9155G>T	c.(9154-9156)cGg>cTg	p.R3052L	NEB_ENST00000427231.2_Missense_Mutation_p.R3295L|NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000603639.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L|NEB_ENST00000397345.3_Missense_Mutation_p.R3295L			P20929	NEBU_HUMAN	nebulin	3052					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAATGTTCCGGGCTCCAAT	0.438																																						ENST00000172853.10	1.000000	0.030000	1	5.000000e-02	0.080000	0.303691	0.080000	0.080000																										0				301						c.(9154-9156)cGg>cTg		nebulin							243.0	228.0	233.0					2																	152484296		1901	4118	6019	SO:0001583	missense	4703	0	0					g.chr2:152484296C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9155G>T	chr2.hg19:g.152484296C>A	ENSP00000172853:p.Arg3052Leu	1					NEB_ENST00000603639.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L|NEB_ENST00000427231.2_Missense_Mutation_p.R3295L|NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000397345.3_Missense_Mutation_p.R3295L	p.R3052L			1	2	3	2.135298	P20929	NEBU_HUMAN		65	9302	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	0	1	hg19	c.9155G>T		0	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461325	0.84317	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09538	2.97;3.02;2.99;2.97	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.38175	1.15	0.80722	D	1	P	0.45672	0.864	P	0.45037	0.467	T	0.00632	-1.1635	10	0.49607	T	0.09	.	19.5601	0.95368	0.0:1.0:0.0:0.0	.	3052	P20929	NEBU_HUMAN	L	3052;3295;3295;3052	ENSP00000386259:R3052L;ENSP00000380505:R3295L;ENSP00000416578:R3295L;ENSP00000172853:R3052L	ENSP00000172853:R3052L	R	-	2	0	0	NEB	152192542	152192542	0.989000	0.36119	0.899000	0.35326	0.954000	0.61252	3.126000	0.50477	2.620000	0.88729	0.650000	0.86243	CGG	0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	277	277	277	276	1	1.890000	-1.772008	0	0.230000	NM_004543		0	10	10	0	1165	1137	0		1			0	0	277	0	0	0.996470	0	0	0	0	0	0	10	1165
MARCH7	64844	broad.mit.edu	37	2	160605292	160605292	+	Silent	SNP	C	C	A	rs149881046	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:160605292C>A	ENST00000259050.4	+	5	1613	c.1491C>A	c.(1489-1491)acC>acA	p.T497T	MARCH7_ENST00000539065.1_Silent_p.T441T|MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000409175.1_Silent_p.T497T	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	497					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTAATTTGACCGACAATGTCA	0.423																																						ENST00000259050.4	1.000000	0.050000	1	7.000000e-02	0.110000	0.319381	0.110000	0.100000																										0				18						c.(1489-1491)acC>acA		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							176.0	193.0	187.0					2																	160605292		2203	4300	6503	SO:0001819	synonymous_variant	64844	0	0					g.chr2:160605292C>A	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1491C>A	chr2.hg19:g.160605292C>A		1					MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000409175.1_Silent_p.T497T|MARCH7_ENST00000539065.1_Silent_p.T441T	p.T497T	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	1	2	3	2.135298	Q9H992	MARH7_HUMAN		5	1613	+			A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Silent	SNP	ENST00000259050.4	0	1	hg19	c.1491C>A	CCDS2210.1	0																																																																																								0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.423	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	0	0	1	2	2	2	2	0	0	0	0	294	294	294	292	1	1.890000	-1.860174	0	0.230000	NM_022826		0	12	12	0	1106	1079	0		1	0		0	0	294	0	0	0.998970	1.644708e-01	0	0	0	62	0	12	1106
SCN9A	6335	broad.mit.edu	37	2	167083091	167083091	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:167083091G>T	ENST00000409435.1	-	23	4383	c.4384C>A	c.(4384-4386)Caa>Aaa	p.Q1462K	SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q1463K|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1463K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1462					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)	TTTTTCTGTTGGTTGAAATTA	0.264																																						ENST00000409435.1	1.000000	0.170000	1	2.800000e-01	0.450000	0.553187	0.450000	0.360000																										0				108						c.(4384-4386)Caa>Aaa		sodium channel, voltage-gated, type IX, alpha subunit	Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)						42.0	42.0	42.0					2																	167083091		2080	4252	6332	SO:0001583	missense	6335	0	0					g.chr2:167083091G>T	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.4384C>A	chr2.hg19:g.167083091G>T	ENSP00000386330:p.Gln1462Lys	1					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1463K|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q1463K	p.Q1462K			1	2	3	2.135298	Q15858	SCN9A_HUMAN		23	4383	-			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	0	1	hg19	c.4384C>A	CCDS46441.1	0	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628730	0.87560	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	D	0.97895	0.9308	M	0.80847	2.515	0.80722	D	1	D	0.61697	0.99	P	0.60541	0.876	D	0.98554	1.0638	10	0.87932	D	0	.	19.3055	0.94161	0.0:0.0:1.0:0.0	.	1451	E7EUN6	.	K	1451;1463;1463;1462	ENSP00000386306:Q1451K;ENSP00000364536:Q1463K;ENSP00000304748:Q1463K;ENSP00000386330:Q1462K	ENSP00000304748:Q1463K	Q	-	1	0	0	SCN9A	166791337	166791337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.960000	0.87893	2.559000	0.86315	0.591000	0.81541	CAA	0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.264	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	0	0	1	2	2	2	2	0	0	0	0	18	18	18	18	1	1.890000	-3.912536	1	0.230000	NM_002977		0	6	6	0	144	143	0		1			0	0	18	0	0	0.965225	0	0	0	0	0	0	6	144
GEN1	348654	broad.mit.edu	37	2	17959283	17959283	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:17959283G>T	ENST00000381254.2	+	12	1431	c.1217G>T	c.(1216-1218)cGa>cTa	p.R406L	GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	406					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTAAGACTCGAATCAGAAAT	0.274								Homologous recombination																														ENST00000381254.2	1.000000	0.080000	1	1.100000e-01	0.170000	0.363263	0.170000	0.150000																										0				16						c.(1216-1218)cGa>cTa	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							79.0	86.0	84.0					2																	17959283		2199	4269	6468	SO:0001583	missense	348654	0	0					g.chr2:17959283G>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1217G>T	chr2.hg19:g.17959283G>T	ENSP00000370653:p.Arg406Leu	1					GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron	p.R406L	NM_001130009.1	NP_001123481.1	1	2	3	2.135298	Q17RS7	GEN_HUMAN		12	1431	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	0	1	hg19	c.1217G>T	CCDS1691.1	0	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449211	0.84101	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	T;T;T	0.44083	0.93;0.93;0.93	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000008	T	0.66723	0.2818	M	0.76002	2.32	0.50467	D	0.999871	D	0.89917	1.0	D	0.85130	0.997	T	0.70238	-0.4927	10	0.87932	D	0	-14.2737	18.7563	0.91833	0.0:0.0:1.0:0.0	.	406	Q17RS7	GEN_HUMAN	L	406;406;177;43	ENSP00000318977:R406L;ENSP00000370653:R406L;ENSP00000431542:R177L	ENSP00000318977:R406L	R	+	2	0	0	GEN1	17822764	17822764	1.000000	0.71417	0.925000	0.36789	0.894000	0.52154	4.945000	0.63568	2.601000	0.87937	0.655000	0.94253	CGA	0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.274	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	0	0	1	2	2	2	2	0	0	0	0	140	140	140	138	1	1.890000	-2.360417	0	0.230000	NM_182625		0	11	10	0	655	645	0		1	0		0	0	140	0	0	0.998187	3.337541e-03	0	0	0	5	0	11	655
TTN	7273	broad.mit.edu	37	2	179480172	179480172	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:179480172C>A	ENST00000591111.1	-	209	43801	c.43577G>T	c.(43576-43578)cGa>cTa	p.R14526L	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R16167L|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14526	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ATTGGCTGTTCGATCTCTCCA	0.433																																						ENST00000591111.1	1.000000	0.090000	1	1.200000e-01	0.170000	0.366691	0.170000	0.160000																										0				1448						c.(43576-43578)cGa>cTa		titin							222.0	222.0	222.0					2																	179480172		1978	4153	6131	SO:0001583	missense	7273	0	0					g.chr2:179480172C>A	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.43577G>T	chr2.hg19:g.179480172C>A	ENSP00000465570:p.Arg14526Leu	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN_ENST00000589042.1_Missense_Mutation_p.R16167L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.R14526L			1	2	3	2.135298	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	209	43801	-			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	Missense_Mutation	SNP	ENST00000591111.1	0	1	hg19	c.43577G>T		0	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060814	0.36373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.76	5.76	0.90799	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39226	0.1070	N	0.05330	-0.07	0.32798	N	0.500288	P;P;P;P	0.38992	0.653;0.653;0.653;0.653	B;B;B;B	0.41619	0.361;0.361;0.361;0.361	T	0.56288	-0.8004	9	0.87932	D	0	.	14.3984	0.67027	0.0:0.7375:0.2625:0.0	.	7102;7227;7294;14526	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	13599;7102;7294;7227;7102	ENSP00000343764:R13599L;ENSP00000434586:R7102L;ENSP00000340554:R7294L;ENSP00000352154:R7227L	ENSP00000340554:R7294L	R	-	2	0	0	TTN	179188417	179188417	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.362000	0.52314	2.720000	0.93068	0.655000	0.94253	CGA	0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	2	2	2	2	0	0	0	0	234	234	234	232	1	1.890000	-1.896311	0	0.230000	NM_133378		0	16	16	0	904	891	0		1	0		0	0	234	0	0	0.999923	0	0	0	0	1	0	16	904
COL3A1	1281	broad.mit.edu	37	2	189858794	189858794	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:189858794G>T	ENST00000304636.3	+	17	1350	c.1180G>T	c.(1180-1182)Ggt>Tgt	p.G394C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	394	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TAGTCCTGGTGGTAAAGGCGA	0.373																																						ENST00000304636.3	1.000000	0.080000	3.300000e-01	1.300000e-01	0.190000	0.300060	0.190000	0.170000																										0				126						c.(1180-1182)Ggt>Tgt		collagen, type III, alpha 1	Collagenase(DB00048)						134.0	131.0	132.0					2																	189858794		2203	4300	6503	SO:0001583	missense	1281	0	0					g.chr2:189858794G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1180G>T	chr2.hg19:g.189858794G>T	ENSP00000304408:p.Gly394Cys	0					COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C	p.G394C	NM_000090.3	NP_000081	1	2	3	2.095160	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)	17	1350	+			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	0	1	hg19	c.1180G>T	CCDS2297.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.180414|3.180414	0.57800|0.57800	.|.	.|.	ENSG00000168542|ENSG00000168542	ENST00000304636;ENST00000317840|ENST00000450867	D;D|.	0.94376|.	-3.41;-3.41|.	5.86|5.86	5.86|5.86	0.93980|0.93980	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.52532|.	D|.	0.000069|.	T|T	0.53706|0.53706	0.1813|0.1813	L|L	0.29908|0.29908	0.895|0.895	0.39856|0.39856	D|D	0.973315|0.973315	D|.	0.76494|.	0.999|.	D|.	0.65323|.	0.934|.	T|T	0.49735|0.49735	-0.8908|-0.8908	10|5	0.56958|.	D|.	0.05|.	.|.	12.7679|12.7679	0.57403|0.57403	0.0824:0.0:0.9176:0.0|0.0824:0.0:0.9176:0.0	.|.	394|.	P02461|.	CO3A1_HUMAN|.	C|L	394|60	ENSP00000304408:G394C;ENSP00000315243:G394C|.	ENSP00000304408:G394C|.	G|W	+|+	1|2	0|0	0|0	COL3A1|COL3A1	189567039|189567039	189567039|189567039	0.787000|0.787000	0.28750|0.28750	0.996000|0.996000	0.52242|0.52242	0.984000|0.984000	0.73092|0.73092	2.172000|2.172000	0.42463|0.42463	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGT|TGG	0.244765		TCGA-HZ-A77Q-01A-11D-A36O-08	0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	0	0	0	2	2	2	2	0	0	0	0	96	96	96	96	1	1.890000	-3.182292	1	0.230000	NM_000090		0	8	7	0	400	392	0		1	1		0	0	96	0	0	0.988528	1	0	4	0	7483	0	8	400
DNAH7	56171	broad.mit.edu	37	2	196825552	196825552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:196825552C>A	ENST00000312428.6	-	18	2423	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	775	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCTAAATTCGACAGCAGTT	0.393																																						ENST00000312428.6	1.000000	0.080000	2.600000e-01	1.200000e-01	0.160000	0.278020	0.160000	0.150000																										0				205						c.(2323-2325)Gaa>Taa		dynein, axonemal, heavy chain 7							149.0	138.0	142.0					2																	196825552		1853	4104	5957	SO:0001587	stop_gained	56171	0	0					g.chr2:196825552C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2323G>T	chr2.hg19:g.196825552C>A	ENSP00000311273:p.Glu775*	0						p.E775*	NM_018897.2	NP_061720.2	1	2	3	2.095160	Q8WXX0	DYH7_HUMAN		18	2423	-			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	0	1	hg19	c.2323G>T	CCDS42794.1	0	.	.	.	.	.	.	.	.	.	.	C	41	8.546907	0.98857	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.062767	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.9196	0.97082	0.0:1.0:0.0:0.0	.	.	.	.	X	775	.	ENSP00000311273:E775X	E	-	1	0	0	DNAH7	196533797	196533797	0.999000	0.42202	0.920000	0.36463	0.863000	0.49368	4.270000	0.58896	2.708000	0.92522	0.650000	0.86243	GAA	0.244765		TCGA-HZ-A77Q-01A-11D-A36O-08	0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	0	1	2	2	2	2	0	0	0	0	143	143	143	141	1	1.890000	-2.389722	0	0.230000	NM_018897		0	12	10	0	670	662	0		1			0	0	143	0	0	0.999039	0	0	0	0	0	0	12	670
HECW2	57520	broad.mit.edu	37	2	197090556	197090556	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:197090556A>G	ENST00000260983.3	-	23	4138	c.3956T>C	c.(3955-3957)aTa>aCa	p.I1319T	HECW2_ENST00000409111.1_Missense_Mutation_p.I963T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1319	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATACTGGTGTATTAGTGCAAG	0.403																																						ENST00000260983.3	1.000000	0.650000	1	7.700000e-01	0.920000	0.900331	0.920000	1.000000																										0				113						c.(3955-3957)aTa>aCa		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							141.0	114.0	123.0					2																	197090556		2203	4300	6503	SO:0001583	missense	57520	0	0					g.chr2:197090556A>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3956T>C	chr2.hg19:g.197090556A>G	ENSP00000260983:p.Ile1319Thr	0					HECW2_ENST00000409111.1_Missense_Mutation_p.I963T	p.I1319T	NM_020760.1	NP_065811.1	1	2	3	2.095160	Q9P2P5	HECW2_HUMAN		23	4138	-			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	1	1	hg19	c.3956T>C	CCDS33354.1	1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636658	0.87760	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.57907	0.37;0.37	5.17	5.17	0.71159	5.17	5.17	0.71159	HECT (4);	0.089981	0.85682	D	0.000000	T	0.62429	0.2427	M	0.64997	1.995	0.80722	D	1	D	0.53619	0.961	P	0.52627	0.704	T	0.67581	-0.5634	10	0.87932	D	0	.	15.1845	0.72989	1.0:0.0:0.0:0.0	.	1319	Q9P2P5	HECW2_HUMAN	T	963;1319	ENSP00000386775:I963T;ENSP00000260983:I1319T	ENSP00000260983:I1319T	I	-	2	0	0	HECW2	196798801	196798801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.182000	0.69389	0.459000	0.35465	ATA	0.244765		TCGA-HZ-A77Q-01A-11D-A36O-08	0.403	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	0	2	2	2	2	0	0	0	0	87	87	87	86	1	1.890000	-20.000000	1	0.230000	NM_020760		0	36	36	0	320	314	1		1	0		0	0	87	0	0	1.000000	2.772615e-01	0	0	0	10	0	36	320
NIF3L1	60491	broad.mit.edu	37	2	201760066	201760066	+	Silent	SNP	C	C	A	rs200075304		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201760066C>A	ENST00000409020.1	+	4	973	c.679C>A	c.(679-681)Cgg>Agg	p.R227R	NIF3L1_ENST00000359683.4_Silent_p.R200R|NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000409357.1_Silent_p.R227R|NIF3L1_ENST00000409588.1_Silent_p.R227R			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	227					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TTTTCTTTCCCGGAACAAACA	0.373																																						ENST00000409020.1	1.000000	0.080000	2.900000e-01	1.200000e-01	0.170000	0.284637	0.170000	0.160000																										0				13						c.(679-681)Cgg>Agg		NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)							133.0	120.0	124.0					2																	201760066		1828	4087	5915	SO:0001819	synonymous_variant	60491	0	0					g.chr2:201760066C>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.679C>A	chr2.hg19:g.201760066C>A		0					NIF3L1_ENST00000409588.1_Silent_p.R227R|NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000359683.4_Silent_p.R200R|NIF3L1_ENST00000409357.1_Silent_p.R227R	p.R227R			1	2	3	2.095160	Q9GZT8	GTPC1_HUMAN		4	973	+			Q53TX4|Q6X735|Q9H2D2|Q9HC18	Silent	SNP	ENST00000409020.1	0	1	hg19	c.679C>A	CCDS46485.1	0																																																																																								0.244765		TCGA-HZ-A77Q-01A-11D-A36O-08	0.373	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	0	0	1	2	2	2	2	0	0	0	0	108	108	108	107	1	1.890000	-2.216423	0	0.230000	NM_021824		0	10	10	0	541	529	0		1	0		0	0	108	0	0	0.996566	1.355065e-01	0	0	0	32	0	10	541
CYP20A1	57404	broad.mit.edu	37	2	204137450	204137450	+	Silent	SNP	C	C	A	rs201185429		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:204137450C>A	ENST00000356079.4	+	6	781	c.658C>A	c.(658-660)Cgg>Agg	p.R220R	CYP20A1_ENST00000429815.2_Silent_p.R228R|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	220						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						AAACATGACTCGGAAAAAACA	0.313																																						ENST00000356079.4	1.000000	0.090000	4.300000e-01	1.500000e-01	0.240000	0.341067	0.240000	0.210000																										0				11						c.(658-660)Cgg>Agg		cytochrome P450, family 20, subfamily A, polypeptide 1							38.0	41.0	40.0					2																	204137450		2203	4296	6499	SO:0001819	synonymous_variant	57404	0	0					g.chr2:204137450C>A	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.658C>A	chr2.hg19:g.204137450C>A		0					CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Silent_p.R228R	p.R220R	NM_177538.2	NP_803882.1	1	2	3	2.095160	Q6UW02	CP20A_HUMAN		6	781	+			Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Silent	SNP	ENST00000356079.4	0	1	hg19	c.658C>A	CCDS2357.1	0																																																																																								0.244765		TCGA-HZ-A77Q-01A-11D-A36O-08	0.313	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	0	0	1	2	2	2	2	0	0	0	0	45	45	45	45	1	1.890000	-2.876436	1	0.230000	NM_020674		0	6	5	0	247	242	0		1	0		0	0	45	0	0	0.962825	9.140888e-02	0	0	0	17	0	6	247
MDH1B	130752	broad.mit.edu	37	2	207622074	207622074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:207622074C>A	ENST00000374412.3	-	3	432	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	53					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTATTCTTTTCACACACATCT	0.373																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3	1.000000	0.080000	3.000000e-01	1.300000e-01	0.180000	0.293618	0.180000	0.170000																										0				34						c.(157-159)Gaa>Taa		malate dehydrogenase 1B, NAD (soluble)							118.0	115.0	116.0					2																	207622074		2203	4300	6503	SO:0001587	stop_gained	130752	0	0					g.chr2:207622074C>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.157G>T	chr2.hg19:g.207622074C>A	ENSP00000363533:p.Glu53*	0					MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000449792.1_5'UTR	p.E53*	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	1	2	3	2.095160	Q5I0G3	MDH1B_HUMAN		3	432	-			A8K8M1|Q53TK9|Q8IV51	Nonsense_Mutation	SNP	ENST00000374412.3	0	1	hg19	c.157G>T	CCDS33365.1	0	.	.	.	.	.	.	.	.	.	.	C	7.721	0.697252	0.15106	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	.	.	.	5.84	-1.43	0.08884	5.84	-1.43	0.08884	.	0.678176	0.16290	N	0.220957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-13.4765	6.6365	0.22885	0.113:0.437:0.0:0.4499	.	.	.	.	X	53	.	ENSP00000363533:E53X	E	-	1	0	0	MDH1B	207330319	207330319	0.957000	0.32711	0.889000	0.34880	0.015000	0.08874	0.114000	0.15520	0.073000	0.16731	-0.768000	0.03414	GAA	0.244765		TCGA-HZ-A77Q-01A-11D-A36O-08	0.373	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	0	0	1	2	2	2	2	0	0	0	0	97	97	97	97	1	1.890000	-2.799896	1	0.230000	NM_001039845		0	10	9	0	510	502	0		1	0		0	0	97	0	0	0.996650	4.816604e-04	0	0	0	2	0	10	510
USP37	57695	broad.mit.edu	37	2	219411667	219411667	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:219411667G>C	ENST00000258399.3	-	7	989	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	USP37_ENST00000418019.1_Missense_Mutation_p.L193V|USP37_ENST00000415516.1_Missense_Mutation_p.L121V|USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	193					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTGATCTAAGAGGTGTTGAA	0.398																																						ENST00000258399.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999916	0.990000	1.000000																										0				35						c.(577-579)Ctt>Gtt		ubiquitin specific peptidase 37							119.0	118.0	118.0					2																	219411667		2203	4300	6503	SO:0001583	missense	57695	0	0					g.chr2:219411667G>C	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.577C>G	chr2.hg19:g.219411667G>C	ENSP00000258399:p.Leu193Val	0					USP37_ENST00000415516.1_Missense_Mutation_p.L121V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V|USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000418019.1_Missense_Mutation_p.L193V	p.L193V	NM_020935.2	NP_065986	1	2	3	2.095160	Q86T82	UBP37_HUMAN		7	989	-		Renal(207;0.0915)	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	1	1	hg19	c.577C>G	CCDS2418.1	1	.	.	.	.	.	.	.	.	.	.	G	6.869	0.529682	0.13127	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.44881	1.02;1.02;1.02;1.02;0.91	4.83	3.93	0.45458	4.83	3.93	0.45458	.	0.503731	0.21796	N	0.068985	T	0.25531	0.0621	N	0.24115	0.695	0.25253	N	0.989657	P;B;B	0.47910	0.902;0.372;0.167	B;B;B	0.40066	0.318;0.053;0.016	T	0.09552	-1.0669	10	0.13853	T	0.58	-13.4553	11.632	0.51181	0.0864:0.0:0.9136:0.0	.	193;121;193	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	V	193;193;121;193;193	ENSP00000258399:L193V;ENSP00000393662:L193V;ENSP00000400902:L121V;ENSP00000396585:L193V;ENSP00000345043:L193V	ENSP00000258399:L193V	L	-	1	0	0	USP37	219119911	219119911	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.336000	0.59304	2.506000	0.84524	0.563000	0.77884	CTT	0.244765		TCGA-HZ-A77Q-01A-11D-A36O-08	0.398	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	1	0	1	2	2	2	2	0	0	0	0	121	121	121	121	1	1.890000	-3.018657	1	0.230000	NM_020935		0	83	82	0	464	457	1		1	1		0	0	121	0	0	1.000000	3.486466e-01	0	2	0	6	0	83	464
PTPRN	5798	broad.mit.edu	37	2	220172205	220172205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220172205G>A	ENST00000295718.2	-	3	481	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*|PTPRN_ENST00000423636.2_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	81					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)		TGTAAGCGTTGGAGAACTGGG	0.557																																						ENST00000295718.2	1.000000	0.900000	1	9.900000e-01	0.990000	0.994105	0.990000	1.000000																										0				65						c.(241-243)Caa>Taa		protein tyrosine phosphatase, receptor type, N							74.0	72.0	72.0					2																	220172205		2203	4300	6503	SO:0001587	stop_gained	5798	0	0					g.chr2:220172205G>A		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.241C>T	chr2.hg19:g.220172205G>A	ENSP00000295718:p.Gln81*	0					PTPRN_ENST00000423636.2_5'UTR|PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*	p.Q81*	NM_002846.3	NP_002837.1	1	2	3	2.095160	Q16849	PTPRN_HUMAN		3	481	-		Renal(207;0.0474)	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Nonsense_Mutation	SNP	ENST00000295718.2	0	1	hg19	c.241C>T	CCDS2440.1	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613044	0.87258	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579;ENST00000440552	.	.	.	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.101357	0.38778	N	0.001570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.3985	0.74816	0.0:0.0:1.0:0.0	.	.	.	.	X	81;81;81;81;48	.	ENSP00000295718:Q81X	Q	-	1	0	0	PTPRN	219880449	219880449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.229000	0.72294	2.359000	0.80004	0.460000	0.39030	CAA	0.244765		TCGA-HZ-A77Q-01A-11D-A36O-08	0.557	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	1	0	1	2	2	2	2	0	0	0	0	53	53	53	52	1	1.890000	-3.079316	1	0.230000			0	35	33	0	215	210	0		1	0		0	0	53	0	0	1.000000	6.058377e-01	0	0	0	14	0	35	215
TMEM198	130612	broad.mit.edu	37	2	220412305	220412305	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220412305C>A	ENST00000344458.2	+	4	829	c.244C>A	c.(244-246)Cga>Aga	p.R82R	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Silent_p.R82R|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	82	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCTCTGCTACCGAGAGCGGGT	0.632																																						ENST00000344458.2	1.000000	0.040000	1.600000e-01	6.000000e-02	0.090000	0.216437	0.090000	0.090000																										0				16						c.(244-246)Cga>Aga		transmembrane protein 198							245.0	240.0	242.0					2																	220412305		2203	4300	6503	SO:0001819	synonymous_variant	130612	0	0					g.chr2:220412305C>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.244C>A	chr2.hg19:g.220412305C>A		0					RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Silent_p.R82R	p.R82R			1	2	3	2.095160	Q66K66	TM198_HUMAN		4	829	+		Renal(207;0.0376)		Silent	SNP	ENST00000344458.2	0	1	hg19	c.244C>A	CCDS33385.1	0																																																																																								0.244765		TCGA-HZ-A77Q-01A-11D-A36O-08	0.632	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	0	0	1	2	12	2	2	0	0	0	1	328	328	328	325	1	1.890000	-1.797106	0	0.230000	NM_001005209		0	10	11	0	993	977	0		0	0		0	0	328	0	0	0.399682	1.219795e-02	0	0	0	15	0	10	993
RASGRP3	25780	broad.mit.edu	37	2	33745672	33745672	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:33745672C>A	ENST00000403687.3	+	6	1029	c.289C>A	c.(289-291)Cgt>Agt	p.R97S	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	97	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.R97S(2)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTTGATTCGTATGACTGA	0.423																																						ENST00000403687.3	1.000000	0.050000	1	8.000000e-02	0.120000	0.327831	0.120000	0.100000																										2	Substitution - Missense(2)	p.R97S(2)	urinary_tract(1)|lung(1)	11						c.(289-291)Cgt>Agt		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							258.0	252.0	254.0					2																	33745672		1894	4112	6006	SO:0001583	missense	25780	0	0					g.chr2:33745672C>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.289C>A	chr2.hg19:g.33745672C>A	ENSP00000384192:p.Arg97Ser	1					RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S	p.R97S	NM_001139488.1	NP_001132960.1	1	2	3	2.135298	Q8IV61	GRP3_HUMAN		6	1029	+	all_hematologic(175;0.115)		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	0	1	hg19	c.289C>A	CCDS46256.1	0	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486860	0.63962	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000444784;ENST00000423159;ENST00000407811	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.83	5.83	0.93111	5.83	5.83	0.93111	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.187977	0.48767	D	0.000170	T	0.44008	0.1273	L	0.33485	1.01	0.43698	D	0.996152	P;P	0.38048	0.616;0.616	P;P	0.44597	0.454;0.454	T	0.11991	-1.0565	10	0.33141	T	0.24	-7.3146	20.1218	0.97964	0.0:1.0:0.0:0.0	.	97;97	D6W583;Q8IV61	.;GRP3_HUMAN	S	97	ENSP00000385886:R97S;ENSP00000393866:R97S;ENSP00000384192:R97S;ENSP00000400602:R97S;ENSP00000388139:R97S;ENSP00000383917:R97S	ENSP00000385886:R97S	R	+	1	0	0	RASGRP3	33599176	33599176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.883000	0.48554	2.763000	0.94921	0.561000	0.74099	CGT	0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.423	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	0	0	1	2	2	2	2	0	0	0	0	216	216	216	214	1	1.890000	-1.947892	0	0.230000	NM_015376		0	10	9	0	845	837	0		1	0		0	0	216	0	0	0.996721	5.968682e-03	0	0	0	9	0	10	845
PLEKHH2	130271	broad.mit.edu	37	2	43924402	43924402	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:43924402C>A	ENST00000282406.4	+	7	705	c.595C>A	c.(595-597)Cga>Aga	p.R199R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	199					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTTTATCTCGAGCAAGGAG	0.428																																						ENST00000282406.4	1.000000	0.110000	1	1.600000e-01	0.230000	0.403290	0.230000	0.200000																										0				56						c.(595-597)Cga>Aga		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							118.0	118.0	118.0					2																	43924402		2203	4300	6503	SO:0001819	synonymous_variant	130271	0	0					g.chr2:43924402C>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.595C>A	chr2.hg19:g.43924402C>A		1						p.R199R	NM_172069.3	NP_742066.2	1	2	3	2.135298	Q8IVE3	PKHH2_HUMAN		7	705	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	0	1	hg19	c.595C>A	CCDS1812.1	0																																																																																								0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.428	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	0	0	1	2	2	2	2	0	0	0	0	123	123	123	122	1	1.890000	-2.026186	0	0.230000	NM_172069		0	12	11	0	533	527	0		1	0		0	0	123	0	0	0.999048	1.911489e-02	0	0	0	9	0	12	533
CCDC85A	114800	broad.mit.edu	37	2	56419683	56419683	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:56419683G>A	ENST00000407595.2	+	2	850	c.348G>A	c.(346-348)cgG>cgA	p.R116R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGATGACCGGCAGAAAGGCA	0.532																																						ENST00000407595.2	1.000000	0.060000	1	1.100000e-01	0.190000	0.378503	0.190000	0.150000																										0				38						c.(346-348)cgG>cgA		coiled-coil domain containing 85A							75.0	82.0	80.0					2																	56419683		1972	4162	6134	SO:0001819	synonymous_variant	114800	0	0					g.chr2:56419683G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.348G>A	chr2.hg19:g.56419683G>A		1					RP11-482H16.1_ENST00000607540.1_RNA	p.R116R	NM_001080433.1	NP_001073902.1	1	2	3	2.135298	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	2	850	+				Silent	SNP	ENST00000407595.2	0	1	hg19	c.348G>A	CCDS46290.1	0																																																																																								0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.532	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1	0	0	1	2	2	2	2	0	0	0	0	98	98	98	97	1	1.890000	-3.058419	1	0.230000			0	5	5	0	289	286	0		1	0		0	0	98	0	0	0.936374	0	0	0	0	1	0	5	289
PCYOX1	51449	broad.mit.edu	37	2	70502134	70502134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:70502134G>T	ENST00000433351.2	+	4	566	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180*|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	180					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGTAGTGTCGAAAAATTACT	0.423																																						ENST00000433351.2	1.000000	0.100000	1	1.500000e-01	0.220000	0.396413	0.220000	0.190000																										0				15						c.(538-540)Gaa>Taa		prenylcysteine oxidase 1							140.0	135.0	136.0					2																	70502134		2203	4300	6503	SO:0001587	stop_gained	51449	0	0					g.chr2:70502134G>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.538G>T	chr2.hg19:g.70502134G>T	ENSP00000387654:p.Glu180*	1					PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*|PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180*	p.E180*	NM_016297.3	NP_057381.3	1	2	3	2.135298	Q9UHG3	PCYOX_HUMAN		4	566	+			B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Nonsense_Mutation	SNP	ENST00000433351.2	0	1	hg19	c.538G>T	CCDS1902.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.695587	0.96802	.	.	ENSG00000116005	ENST00000422380;ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138	.	.	.	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.044521	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-26.5204	17.9005	0.88902	0.0:0.0:1.0:0.0	.	.	.	.	X	103;103;103;180;180;103;102	.	ENSP00000264441:E180X	E	+	1	0	0	PCYOX1	70355638	70355638	1.000000	0.71417	0.965000	0.40720	0.958000	0.62258	9.581000	0.98210	2.811000	0.96726	0.555000	0.69702	GAA	0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.423	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	0	0	1	2	2	2	2	0	0	0	0	148	148	148	148	1	1.890000	-2.593863	1	0.230000	NM_016297		0	12	13	0	557	550	0		1	0		0	0	148	0	0	0.999070	1.829168e-01	0	0	0	34	0	12	557
TEKT4	150483	broad.mit.edu	37	2	95541370	95541370	+	Missense_Mutation	SNP	C	C	T	rs112344899		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:95541370C>T	ENST00000295201.4	+	5	1111	c.974C>T	c.(973-975)gCg>gTg	p.A325V	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	325					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACAACGTGGCGGCACTGAAG	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		20016	0.001		0.0	False		,,,				2504	0.0					ENST00000295201.4	1.000000	0.700000	1	8.400000e-01	0.990000	0.943844	0.990000	1.000000																										0				28						c.(973-975)gCg>gTg		tektin 4							194.0	161.0	172.0					2																	95541370		2203	4300	6503	SO:0001583	missense	150483	18	121412	44				g.chr2:95541370C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.974C>T	chr2.hg19:g.95541370C>T	ENSP00000295201:p.Ala325Val	1					AC097374.2_ENST00000568768.1_RNA	p.A325V	NM_144705.2	NP_653306.1	1	2	3	2.135298	Q8WW24	TEKT4_HUMAN		5	1111	+				Missense_Mutation	SNP	ENST00000295201.4	1	1	hg19	c.974C>T	CCDS2005.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	.	2.496	-0.316380	0.05422	.	.	ENSG00000163060	ENST00000295201	T	0.02579	4.24	2.47	0.0321	0.14174	2.47	0.0321	0.14174	.	0.390516	0.24975	N	0.034109	T	0.01800	0.0057	N	0.26162	0.8	0.09310	N	1	B	0.30439	0.279	B	0.20577	0.03	T	0.47761	-0.9092	10	0.33940	T	0.23	-16.8492	5.7335	0.18053	0.2129:0.5766:0.2105:0.0	.	325	Q8WW24	TEKT4_HUMAN	V	325	ENSP00000295201:A325V	ENSP00000295201:A325V	A	+	2	0	0	TEKT4	94905097	94905097	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.696000	0.05104	0.323000	0.23307	0.465000	0.42564	GCG	0.267085		TCGA-HZ-A77Q-01A-11D-A36O-08	0.607	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	1	0	1	2	2	2	2	0	0	0	0	116	116	116	115	1	1.890000	-3.075758	1	0.230000	NM_144705		0	33	33	0	279	274	1		1			0	0	116	0	0	1.000000	0	0	0	0	0	0	33	279
SLC19A3	80704	broad.mit.edu	37	2	228564041	228564041	+	Silent	SNP	C	C	A	rs376187918		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:228564041C>A	ENST00000258403.3	-	3	461	c.390G>T	c.(388-390)gtG>gtT	p.V130V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.V126V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	130					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGGGGCTGACCACGCTGTATA	0.587																																						ENST00000258403.3	1.000000	0.070000	3.000000e-01	1.200000e-01	0.170000	0.287667	0.170000	0.160000																										0				30						c.(388-390)gtG>gtT		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)	C		0,4406		0,0,2203	86.0	86.0	86.0		390	5.9	1.0	2		86	1,8599		0,1,4299	no	coding-synonymous	SLC19A3	NM_025243.3		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		130/497	228564041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80704	41	121412	50				g.chr2:228564041C>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.390G>T	chr2.hg19:g.228564041C>A		0					SLC19A3_ENST00000541617.1_Silent_p.V126V|SLC19A3_ENST00000409287.1_Intron	p.V130V	NM_025243.3	NP_079519.1	1	2	3	2.095160	Q9BZV2	S19A3_HUMAN		3	461	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Silent	SNP	ENST00000258403.3	0	1	hg19	c.390G>T	CCDS2468.1	0																																																																																								0.244765		TCGA-HZ-A77Q-01A-11D-A36O-08	0.587	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1	0	0	1	2	2	2	2	0	0	0	0	146	146	146	144	1	1.890000	-2.867036	1	0.230000			0	8	9	0	433	424	0		1	0		0	0	146	0	0	0.988693	1.344066e-03	0	0	0	3	0	8	433
TBC1D23	55773	broad.mit.edu	37	3	100039700	100039700	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:100039700C>A	ENST00000394144.4	+	18	1910	c.1903C>A	c.(1903-1905)Cga>Aga	p.R635R	TBC1D23_ENST00000344949.5_Silent_p.R620R|TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	635					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TATACAGTCTCGACAAGCGCT	0.353																																						ENST00000394144.4	0.320000	0.080000	2.600000e-01	1.300000e-01	0.180000	0.196989	0.180000	0.180000																										0				25						c.(1903-1905)Cga>Aga		TBC1 domain family, member 23							91.0	92.0	92.0					3																	100039700		2203	4300	6503	SO:0001819	synonymous_variant	55773	0	0					g.chr3:100039700C>A	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1903C>A	chr3.hg19:g.100039700C>A		0					TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000344949.5_Silent_p.R620R|TBC1D23_ENST00000486274.1_3'UTR	p.R635R	NM_001199198.2	NP_001186127.1	0	1	1	2.025108	Q9NUY8	TBC23_HUMAN		18	1910	+			B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	0	1	hg19	c.1903C>A	CCDS56265.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.353	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	0	0	1	2	2	2	2	0	0	0	0	86	86	86	86	1	1.890000	-2.910006	1	0.230000	NM_018309		0	9	8	0	426	424	0		1	0		0	0	86	0	0	0.994142	2.009575e-01	0	0	0	36	0	9	426
DZIP3	9666	broad.mit.edu	37	3	108353719	108353719	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:108353719G>C	ENST00000361582.3	+	10	1048	c.818G>C	c.(817-819)gGa>gCa	p.G273A	DZIP3_ENST00000463306.1_Splice_Site_p.G273A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	273					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTTTCCAGGGATTTTTTCAG	0.254																																						ENST00000361582.3	0.550000	0.190000	4.500000e-01	2.600000e-01	0.340000	0.358894	0.340000	0.340000																										0				45						c.(817-819)gGa>gCa		DAZ interacting zinc finger protein 3							65.0	67.0	67.0					3																	108353719		2198	4295	6493	SO:0001630	splice_region_variant	9666	0	0					g.chr3:108353719G>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.817-1G>C	chr3.hg19:g.108353719G>C		0					DZIP3_ENST00000463306.1_Splice_Site_p.G273A	p.G273A	NM_014648.3	NP_055463.1	0	1	1	2.025108	Q86Y13	DZIP3_HUMAN		10	1048	+			B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Splice_Site	SNP	ENST00000361582.3	0	1	hg19	c.818G>C	CCDS2952.1	0	.	.	.	.	.	.	.	.	.	.	g	15.78	2.934030	0.52866	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.44881	0.91;0.91;0.91	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000098	T	0.30885	0.0779	N	0.19112	0.55	0.39140	D	0.96201	P	0.38020	0.615	B	0.37480	0.251	T	0.33111	-0.9881	10	0.87932	D	0	-15.8714	13.8419	0.63444	0.0:0.0:1.0:0.0	.	273	Q86Y13	DZIP3_HUMAN	A	273	ENSP00000355028:G273A;ENSP00000418115:G273A;ENSP00000419981:G273A	ENSP00000355028:G273A	G	+	2	0	0	DZIP3	109836409	109836409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	GGA	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.254	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	0	0	0	2	2	2	2	0	0	0	0	75	75	75	75	1	1.890000	-4.192802	1	0.230000	NM_014648	Missense_Mutation	0	13	13	0	320	316	0		1	0		0	0	75	0	0	0.999522	1.821968e-03	0	0	0	2	0	13	320
GATA2	2624	broad.mit.edu	37	3	128200016	128200016	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:128200016G>T	ENST00000341105.2	-	6	1620	c.1289C>A	c.(1288-1290)gCa>gAa	p.A430E	GATA2_ENST00000430265.2_Missense_Mutation_p.A416E|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.A430E	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	430					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CAGGGCAGCTGCACTGAAGGG	0.612			Mis		AML(CML blast transformation)																																	ENST00000341105.2	1.000000	0.550000	9.500000e-01	6.600000e-01	0.800000	0.806977	0.800000	1.000000				Dom	yes			Dom	yes		3	3q21.3	3q21.3	2624	Mis	GATA binding protein 2				L	L			AML(CML blast transformation)		0				79						c.(1288-1290)gCa>gAa		GATA binding protein 2							131.0	114.0	119.0					3																	128200016		2203	4300	6503	SO:0001583	missense	2624	0	0					g.chr3:128200016G>T	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1289C>A	chr3.hg19:g.128200016G>T	ENSP00000345681:p.Ala430Glu	0					GATA2_ENST00000430265.2_Missense_Mutation_p.A416E|GATA2_ENST00000487848.1_Missense_Mutation_p.A430E|GATA2_ENST00000489987.1_5'UTR	p.A430E	NM_032638.4	NP_116027.2	0	1	1	2.025108	P23769	GATA2_HUMAN		6	1620	-			D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	1	1	hg19	c.1289C>A	CCDS3049.1	0	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846692	0.51164	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97303	-4.33;-4.32;-4.33	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.238659	0.42294	D	0.000725	D	0.94202	0.8139	L	0.29908	0.895	0.50039	D	0.999841	P;B	0.36535	0.557;0.049	B;B	0.36845	0.234;0.044	D	0.93760	0.7066	10	0.36615	T	0.2	-15.2932	18.1584	0.89701	0.0:0.0:1.0:0.0	.	416;430	P23769-2;P23769	.;GATA2_HUMAN	E	430;416;430	ENSP00000345681:A430E;ENSP00000400259:A416E;ENSP00000417074:A430E	ENSP00000345681:A430E	A	-	2	0	0	GATA2	129682706	129682706	1.000000	0.71417	0.603000	0.28903	0.746000	0.42486	3.841000	0.55850	2.355000	0.79922	0.491000	0.48974	GCA	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.612	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	1	0	1	2	2	2	2	0	0	0	0	79	79	79	78	1	1.890000	-10.373710	1	0.230000	NM_032638		0	29	29	0	285	279	0		1	0		0	0	79	0	0	1.000000	5.712663e-01	0	1	0	19	0	29	285
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3	0.400000	0.100000	3.100000e-01	1.500000e-01	0.220000	0.237742	0.220000	0.210000																									PLXND1/TMCC1(4)	0				25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023	0	0					g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	chr3.hg19:g.129370592T>A	ENSP00000376930:p.Gln565Leu	0					TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	p.Q565L	NM_001017395.3	NP_001017395.2	0	1	1	2.025108	O94876	TMCC1_HUMAN		6	2034	-			A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	0	1	hg19	c.1694A>T	CCDS33855.1	0	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	0	TMCC1	130853282	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	0	0	1	2	2	2	2	1	1	1	0	99	99	99	104	1	1.890000	-2.148358	0	0.230000	NM_015008		0	8	3	0	315	313	0		1	0	0	1	0	99	0	0	0.988767	1.273846e-01	0	0	0	22	1	8	315
TRIM42	287015	broad.mit.edu	37	3	140401487	140401487	+	Silent	SNP	G	G	A	rs574747515		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401487G>A	ENST00000286349.3	+	2	716	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	175						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTGCAGAAGCACGCCGAGG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19979	0.0		0.0	False		,,,				2504	0.0					ENST00000286349.3	1.000000	0.700000	1	8.100000e-01	0.940000	0.923056	0.940000	1.000000																										0				69						c.(523-525)aaG>aaA		tripartite motif containing 42							101.0	92.0	95.0					3																	140401487		2203	4300	6503	SO:0001819	synonymous_variant	287015	3	121412	39				g.chr3:140401487G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.525G>A	chr3.hg19:g.140401487G>A		0						p.K175K	NM_152616.4	NP_689829.3	0	1	1	2.025108	Q8IWZ5	TRI42_HUMAN		2	716	+			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	1	1	hg19	c.525G>A	CCDS3113.1	1																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.607	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	1	0	1	2	2	2	2	0	0	0	0	126	126	126	126	1	1.890000	-20.000000	1	0.230000	NM_152616		0	43	42	0	349	345	0		1		1	0	0	126	1155	0	1.000000	0	1	0	183	0	1240	43	349
TRIM42	287015	broad.mit.edu	37	3	140401695	140401695	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401695C>T	ENST00000286349.3	+	2	924	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	245						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R245C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCAACAAGCGCATCGCTTA	0.617																																						ENST00000286349.3	1.000000	0.670000	1	7.900000e-01	0.910000	0.904632	0.910000	1.000000																										1	Substitution - Missense(1)	p.R245C(1)	lung(1)	69						c.(733-735)Cgc>Tgc		tripartite motif containing 42							81.0	77.0	78.0					3																	140401695		2203	4300	6503	SO:0001583	missense	287015	0	0					g.chr3:140401695C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.733C>T	chr3.hg19:g.140401695C>T	ENSP00000286349:p.Arg245Cys	0						p.R245C	NM_152616.4	NP_689829.3	0	1	1	2.025108	Q8IWZ5	TRI42_HUMAN		2	924	+			A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	1	1	hg19	c.733C>T	CCDS3113.1	1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565527	0.27915	.	.	ENSG00000155890	ENST00000286349	T	0.40476	1.03	5.2	3.2	0.36748	5.2	3.2	0.36748	.	0.322034	0.24884	N	0.034840	T	0.39118	0.1066	L	0.43152	1.355	0.09310	N	0.999999	D	0.71674	0.998	P	0.47528	0.549	T	0.26467	-1.0102	10	0.87932	D	0	-34.1415	9.6896	0.40120	0.4607:0.5393:0.0:0.0	.	245	Q8IWZ5	TRI42_HUMAN	C	245	ENSP00000286349:R245C	ENSP00000286349:R245C	R	+	1	0	0	TRIM42	141884385	141884385	0.002000	0.14202	0.157000	0.22605	0.010000	0.07245	1.370000	0.34238	1.193000	0.43086	0.561000	0.74099	CGC	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	1	0	1	2	2	2	9	0	0	0	0	109	109	109	109	1	1.890000	-15.457470	1	0.230000	NM_152616		0	42	42	0	353	345	1		1		1	0	2	109	948	0	1.000000	0	1	0	126	0	996	42	353
MFN1	55669	broad.mit.edu	37	3	179083014	179083014	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:179083014G>A	ENST00000471841.1	+	7	879		c.e7+1		MFN1_ENST00000280653.7_Splice_Site|MFN1_ENST00000263969.5_Splice_Site	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1						mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATGGAAGACGTAAGTTGTTA	0.318																																						ENST00000471841.1	1.000000	0.780000	1	9.300000e-01	0.990000	0.975248	0.990000	1.000000																										0				31						c.e7+1		mitofusin 1							38.0	40.0	40.0					3																	179083014		2201	4300	6501	SO:0001630	splice_region_variant	55669	0	0					g.chr3:179083014G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.753+1G>A	chr3.hg19:g.179083014G>A		0					MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site		NM_033540.2	NP_284941	0	1	1	2.025108	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)	7	879	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Splice_Site	SNP	ENST00000471841.1	1	1	hg19		CCDS3228.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372164	0.82573	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MFN1	180565708	180565708	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.414000	0.97362	2.649000	0.89929	0.563000	0.77884	.	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.318	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	1	0	1	2	2	2	2	0	0	0	0	47	47	47	47	1	1.890000	-3.320067	1	0.230000	NM_017927	Intron	0	30	30	0	202	196	1		1			0	0	47	0	0	1.000000	0	0	0	0	0	0	30	202
MCF2L2	23101	broad.mit.edu	37	3	182910813	182910813	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:182910813G>T	ENST00000328913.3	-	27	3287	c.2990C>A	c.(2989-2991)cCg>cAg	p.P997Q	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	997							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCTGGAGGCCGGGTCTTCCTT	0.493																																						ENST00000328913.3	0.250000	0.060000	1.900000e-01	9.000000e-02	0.130000	0.145833	0.130000	0.130000																										0				72						c.(2989-2991)cCg>cAg		MCF.2 cell line derived transforming sequence-like 2							205.0	179.0	188.0					3																	182910813		2203	4300	6503	SO:0001583	missense	23101	0	0					g.chr3:182910813G>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2990C>A	chr3.hg19:g.182910813G>T	ENSP00000328118:p.Pro997Gln	0					MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q	p.P997Q	NM_015078.2	NP_055893	0	1	1	2.025108	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)	27	3287	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	0	1	hg19	c.2990C>A	CCDS3243.1	0	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558511	0.27827	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01787	4.64;4.65	2.97	2.97	0.34412	2.97	2.97	0.34412	.	1.214100	0.06023	N	0.651619	T	0.02455	0.0075	N	0.19112	0.55	0.31814	N	0.626829	D	0.53619	0.961	P	0.48454	0.578	T	0.46965	-0.9153	10	0.27785	T	0.31	.	9.6801	0.40065	0.0:0.0:1.0:0.0	.	997	Q86YR7	MF2L2_HUMAN	Q	997	ENSP00000328118:P997Q;ENSP00000420070:P997Q	ENSP00000328118:P997Q	P	-	2	0	0	MCF2L2	184393507	184393507	0.000000	0.05858	0.091000	0.20842	0.066000	0.16364	0.072000	0.14617	1.953000	0.56701	0.467000	0.42956	CCG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.493	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	0	0	1	2	2	2	2	0	0	0	0	154	154	154	152	1	1.890000	-2.015104	0	0.230000	NM_015078		0	8	8	0	522	509	0		1			0	0	154	0	0	0.988346	0	0	0	0	0	0	8	522
KLHL24	54800	broad.mit.edu	37	3	183388894	183388894	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183388894C>A	ENST00000454652.2	+	7	1683	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R	KLHL24_ENST00000242810.6_Silent_p.R433R|KLHL24_ENST00000476808.1_Silent_p.R433R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	433						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTTTTCAAATCGATGGACTGA	0.418																																						ENST00000454652.2	0.230000	0.060000	1.800000e-01	9.000000e-02	0.130000	0.140670	0.130000	0.130000																										0				27						c.(1297-1299)Cga>Aga		kelch-like family member 24							223.0	210.0	214.0					3																	183388894		2203	4300	6503	SO:0001819	synonymous_variant	54800	1	121412	37				g.chr3:183388894C>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1297C>A	chr3.hg19:g.183388894C>A		0					KLHL24_ENST00000242810.6_Silent_p.R433R|KLHL24_ENST00000476808.1_Silent_p.R433R	p.R433R	NM_017644.3	NP_060114.2	0	1	1	2.025108	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)	7	1683	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	0	1	hg19	c.1297C>A	CCDS3246.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.418	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	0	0	1	2	2	2	2	0	0	0	0	198	198	198	197	1	1.890000	-2.333631	0	0.230000	NM_017644		0	10	9	0	663	652	0		1	0		0	0	198	0	0	0.996589	4.759266e-02	0	0	0	21	0	10	663
SLC4A7	9497	broad.mit.edu	37	3	27439802	27439802	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:27439802C>A	ENST00000295736.5	-	17	2513	c.2443G>T	c.(2443-2445)Ggt>Tgt	p.G815C	SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	815					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCATGATGACCACAAGCTGAC	0.363																																						ENST00000295736.5	0.260000	0.060000	2.000000e-01	9.000000e-02	0.140000	0.153276	0.140000	0.140000																										0				38						c.(2443-2445)Ggt>Tgt		solute carrier family 4, sodium bicarbonate cotransporter, member 7	Sodium bicarbonate(DB01390)						119.0	120.0	119.0					3																	27439802		2203	4300	6503	SO:0001583	missense	9497	0	0					g.chr3:27439802C>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2443G>T	chr3.hg19:g.27439802C>A	ENSP00000295736:p.Gly815Cys	0					SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C	p.G815C	NM_003615.4	NP_003606.3	0	1	1	2.025108	Q9Y6M7	S4A7_HUMAN		17	2513	-			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	0	1	hg19	c.2443G>T	CCDS33721.1	0	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874189	0.72180	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.71	0.654	0.17833	5.71	0.654	0.17833	Bicarbonate transporter, C-terminal (1);	0.319899	0.37483	N	0.002069	D	0.87406	0.6169	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.991;0.99;0.988;1.0;1.0;0.998	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.953;0.965;0.921;0.994;0.998;0.979	D	0.85536	0.1212	10	0.66056	D	0.02	.	9.6876	0.40109	0.0:0.6546:0.0:0.3454	.	811;696;807;811;824;365;691;815;696	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	366;815;691;824;811;696;807;696;811;700;365;711	ENSP00000411031:G366C;ENSP00000295736:G815C;ENSP00000416368:G691C;ENSP00000390394:G824C;ENSP00000414797:G811C;ENSP00000394252:G696C;ENSP00000406605:G807C;ENSP00000407382:G696C;ENSP00000406804:G811C;ENSP00000395336:G700C;ENSP00000373429:G365C;ENSP00000388703:G711C	ENSP00000295736:G815C	G	-	1	0	0	SLC4A7	27414806	27414806	0.989000	0.36119	0.287000	0.24848	0.950000	0.60333	0.479000	0.22228	-0.163000	0.10946	0.563000	0.77884	GGT	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.363	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	0	0	1	2	2	2	2	0	0	0	0	113	113	113	112	1	1.890000	-2.469831	0	0.230000	NM_003615		0	8	8	0	496	489	0		1	0		0	0	113	0	0	0.988856	2.338044e-02	0	0	0	13	0	8	496
ZNF502	91392	broad.mit.edu	37	3	44763222	44763222	+	Silent	SNP	C	C	A	rs561539227		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000436624.2_Silent_p.R305R|ZNF502_ENST00000449836.1_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					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)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408																																						ENST00000296091.4	0.220000	0.070000	1.800000e-01	1.000000e-01	0.130000	0.147310	0.130000	0.140000																										0				19						c.(913-915)Cga>Aga		zinc finger protein 502							164.0	170.0	168.0					3																	44763222		2203	4300	6503	SO:0001819	synonymous_variant	91392	0	0					g.chr3:44763222C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.913C>A	chr3.hg19:g.44763222C>A		0					ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R	p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	0	1	1	2.025108	Q8TBZ5	ZN502_HUMAN		4	1169	+				Silent	SNP	ENST00000296091.4	0	1	hg19	c.913C>A	CCDS2719.1	0	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053853	0.08291	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.27	-0.248	0.13015	4.27	-0.248	0.13015	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.40478	-0.9561	5	0.87932	D	0	-0.978	6.8198	0.23851	0.4135:0.3026:0.2839:0.0	.	.	.	.	L	304	.	ENSP00000397812:F304L	F	+	3	2	2	ZNF502	44738226	44738226	0.547000	0.26465	0.305000	0.25099	0.935000	0.57460	2.045000	0.41250	0.132000	0.18615	0.655000	0.94253	TTC	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	0	0	1	2	2	2	2	0	0	0	0	213	213	213	210	1	1.890000	-2.321300	0	0.230000	NM_033210		0	14	14	0	864	849	0		1	0		0	0	213	0	0	0.999720	1.257250e-02	0	0	0	10	0	14	864
XCR1	2829	broad.mit.edu	37	3	46062772	46062772	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:46062772G>A	ENST00000309285.3	-	2	1024	c.668C>T	c.(667-669)aCg>aTg	p.T223M	XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	223					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGCTTGACCGTGCGGTGGCG	0.582																																						ENST00000309285.3	1.000000	0.530000	1	6.600000e-01	0.820000	0.824297	0.820000	1.000000																										0				14						c.(667-669)aCg>aTg		chemokine (C motif) receptor 1							68.0	62.0	64.0					3																	46062772		2203	4300	6503	SO:0001583	missense	2829	0	0					g.chr3:46062772G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.668C>T	chr3.hg19:g.46062772G>A	ENSP00000310405:p.Thr223Met	0					XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	p.T223M	NM_001024644.1	NP_001019815.1	0	1	1	2.025108	P46094	XCR1_HUMAN		2	1024	-				Missense_Mutation	SNP	ENST00000309285.3	1	1	hg19	c.668C>T	CCDS2736.1	0	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391139	0.62066	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.38887	1.11;1.11	5.72	5.72	0.89469	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.109301	0.64402	D	0.000006	T	0.72415	0.3457	M	0.88450	2.955	0.48571	D	0.999674	D	0.89917	1.0	D	0.85130	0.997	T	0.77135	-0.2699	10	0.87932	D	0	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	223	P46094	XCR1_HUMAN	M	223	ENSP00000310405:T223M;ENSP00000438119:T223M	ENSP00000310405:T223M	T	-	2	0	0	XCR1	46037776	46037776	1.000000	0.71417	0.542000	0.28115	0.351000	0.29236	7.903000	0.87398	2.696000	0.92011	0.650000	0.86243	ACG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.582	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2	1	0	0	2	2	2	2	0	0	0	0	53	53	53	51	1	1.890000	-20.000000	1	0.230000			0	21	21	0	200	199	1		1	0		0	0	53	0	0	0.999998	0	0	0	0	1	0	21	200
RBM6	10180	broad.mit.edu	37	3	50091792	50091792	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:50091792C>A	ENST00000266022.4	+	8	1916	c.1657C>A	c.(1657-1659)Cga>Aga	p.R553R	RBM6_ENST00000443081.1_Silent_p.R421R|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000442092.1_Silent_p.R31R|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.R31R	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	553					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R553R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGGTGGGCACCGATCTTCCTG	0.378																																						ENST00000266022.4	0.160000	0.030000	1.300000e-01	5.000000e-02	0.080000	0.096229	0.080000	0.080000																										1	Substitution - coding silent(1)	p.R553R(1)	lung(1)	33						c.(1657-1659)Cga>Aga		RNA binding motif protein 6							195.0	202.0	200.0					3																	50091792		2203	4300	6503	SO:0001819	synonymous_variant	10180	0	0					g.chr3:50091792C>A	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1657C>A	chr3.hg19:g.50091792C>A		0					RBM6_ENST00000442092.1_Silent_p.R31R|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.R31R|RBM6_ENST00000443081.1_Silent_p.R421R	p.R553R	NM_005777.2	NP_005768.1	0	1	1	2.025108	P78332	RBM6_HUMAN		8	1916	+			O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	0	1	hg19	c.1657C>A	CCDS2809.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.378	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	0	0	1	2	2	2	2	0	0	0	0	208	208	208	208	1	1.890000	-1.706342	0	0.230000	NM_005777		0	8	7	0	798	774	0		1	0		0	0	208	0	0	0.987946	2.336225e-01	0	0	0	82	0	8	798
FLNB	2317	broad.mit.edu	37	3	58108948	58108948	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:58108948C>A	ENST00000295956.4	+	21	3420	c.3255C>A	c.(3253-3255)atC>atA	p.I1085I	FLNB_ENST00000357272.4_Silent_p.I1085I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000493452.1_Silent_p.I916I|FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I|FLNB_ENST00000348383.5_Silent_p.I1085I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1085					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGCCAAAATCGAGTGCTCCG	0.552																																						ENST00000295956.4	0.250000	0.060000	2.000000e-01	1.000000e-01	0.140000	0.154258	0.140000	0.140000																										0				120						c.(3253-3255)atC>atA		filamin B, beta							162.0	146.0	151.0					3																	58108948		2203	4300	6503	SO:0001819	synonymous_variant	2317	0	0					g.chr3:58108948C>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3255C>A	chr3.hg19:g.58108948C>A		0					FLNB_ENST00000493452.1_Silent_p.I916I|FLNB_ENST00000357272.4_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000348383.5_Silent_p.I1085I	p.I1085I	NM_001457.3	NP_001448.2	0	1	1	2.025108	O75369	FLNB_HUMAN		21	3420	+			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	0	1	hg19	c.3255C>A	CCDS2885.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.552	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	0	0	1	2	15	4	2	1	1	1	1	134	134	134	133	1	1.890000	-2.753785	1	0.230000	NM_001457		0	9	8	0	548	538	0		0	0		1	0	134	0	0	0.139725	8.977713e-02	0	0	0	89	0	9	548
YEATS2	55689	broad.mit.edu	37	3	183479340	183479340	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183479340G>T	ENST00000305135.5	+	14	1897	c.1702G>T	c.(1702-1704)Ggg>Tgg	p.G568W		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	568					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.G568W(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGCCCAATTGGGAGTCACCC	0.408																																						ENST00000305135.5	0.200000	0.050000	1.600000e-01	8.000000e-02	0.110000	0.123391	0.110000	0.120000																										1	Substitution - Missense(1)	p.G568W(1)	lung(1)	49						c.(1702-1704)Ggg>Tgg		YEATS domain containing 2							159.0	155.0	156.0					3																	183479340		1869	4091	5960	SO:0001583	missense	55689	0	0					g.chr3:183479340G>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1702G>T	chr3.hg19:g.183479340G>T	ENSP00000306983:p.Gly568Trp	0						p.G568W	NM_018023.4	NP_060493.3	0	1	1	2.025108	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	14	1897	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	0	1	hg19	c.1702G>T	CCDS43175.1	0	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393441	0.83011	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30714	1.52	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.361792	0.27691	N	0.018248	T	0.47248	0.1435	L	0.27053	0.805	0.49687	D	0.999813	D	0.89917	1.0	D	0.97110	1.0	T	0.43925	-0.9361	10	0.87932	D	0	-17.9952	20.5666	0.99351	0.0:0.0:1.0:0.0	.	568	Q9ULM3	YETS2_HUMAN	W	568	ENSP00000306983:G568W	ENSP00000306983:G568W	G	+	1	0	0	YEATS2	184962034	184962034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.120000	0.77153	2.854000	0.98071	0.655000	0.94253	GGG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.408	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	0	0	1	2	2	2	2	0	0	0	0	172	172	172	172	1	1.890000	-1.879989	0	0.230000	NM_018023		0	10	10	0	758	747	0		1	0		0	0	172	0	0	0.996642	2.278174e-02	0	0	0	16	0	10	758
DNAJB14	79982	broad.mit.edu	37	4	100851701	100851701	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:100851701C>A	ENST00000442697.2	-	2	365	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	DNAJB14_ENST00000471738.1_5'UTR	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	71						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTGCTTTGATCGCCACTACCT	0.428																																						ENST00000442697.2	0.220000	0.060000	1.700000e-01	8.000000e-02	0.120000	0.135094	0.120000	0.120000																										0				5						c.(211-213)Gat>Tat		DnaJ (Hsp40) homolog, subfamily B, member 14							271.0	240.0	250.0					4																	100851701		2203	4300	6503	SO:0001583	missense	79982	0	0					g.chr4:100851701C>A	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.211G>T	chr4.hg19:g.100851701C>A	ENSP00000404381:p.Asp71Tyr	0					DNAJB14_ENST00000471738.1_5'UTR	p.D71Y	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	0	1	1	2.025548	Q8TBM8	DJB14_HUMAN		2	365	-			Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	0	1	hg19	c.211G>T	CCDS34035.1	0	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503702	0.44558	.	.	ENSG00000164031	ENST00000442697	T	0.64618	-0.11	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.212421	0.39020	N	0.001489	T	0.56217	0.1970	L	0.36672	1.1	0.23243	N	0.998052	B	0.12630	0.006	B	0.10450	0.005	T	0.53056	-0.8492	10	0.62326	D	0.03	.	18.0119	0.89226	0.0:1.0:0.0:0.0	.	71	Q8TBM8	DJB14_HUMAN	Y	71	ENSP00000404381:D71Y	ENSP00000404381:D71Y	D	-	1	0	0	DNAJB14	101070724	101070724	0.983000	0.35010	0.037000	0.18230	0.890000	0.51754	2.588000	0.46137	2.675000	0.91044	0.655000	0.94253	GAT	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.428	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	0	0	1	2	2	2	2	0	0	0	0	182	182	182	181	1	1.890000	-2.190849	0	0.230000	NM_001031723.2		0	10	13	0	691	680	0		1	0		0	0	182	0	0	0.996721	8.226436e-02	0	0	0	30	0	10	691
ANK2	287	broad.mit.edu	37	4	114274328	114274328	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:114274328C>A	ENST00000357077.4	+	38	4607	c.4554C>A	c.(4552-4554)acC>acA	p.T1518T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1518	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAAATGACCGCCATCTTGA	0.458																																						ENST00000357077.4	0.270000	0.070000	2.100000e-01	1.000000e-01	0.150000	0.161434	0.150000	0.140000																										0				248						c.(4552-4554)acC>acA		ankyrin 2, neuronal							75.0	76.0	76.0					4																	114274328		2203	4300	6503	SO:0001819	synonymous_variant	287	0	0					g.chr4:114274328C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4554C>A	chr4.hg19:g.114274328C>A		0					ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.T1518T	NM_001148.4	NP_001139.3	0	1	1	2.025548	Q01484	ANK2_HUMAN		38	4607	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	0	1	hg19	c.4554C>A	CCDS3702.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	0	1	2	2	2	2	0	0	0	0	133	133	133	133	1	1.890000	-2.472408	0	0.230000	NM_001148		0	9	8	0	523	516	0		1			0	0	133	0	0	0.993829	0	0	0	0	0	0	9	523
USP53	54532	broad.mit.edu	37	4	120214304	120214304	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:120214304C>A	ENST00000274030.6	+	19	4339	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	USP53_ENST00000450251.1_Missense_Mutation_p.H1054N	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATTGAAATACCATCAGAGGCC	0.363																																						ENST00000274030.6	0.310000	0.080000	2.500000e-01	1.200000e-01	0.180000	0.191764	0.180000	0.170000																										0				27						c.(3160-3162)Cat>Aat		ubiquitin specific peptidase 53							51.0	49.0	50.0					4																	120214304		1844	4088	5932	SO:0001583	missense	54532	0	0					g.chr4:120214304C>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.3160C>A	chr4.hg19:g.120214304C>A	ENSP00000274030:p.His1054Asn	0					USP53_ENST00000450251.1_Missense_Mutation_p.H1054N	p.H1054N	NM_019050.2	NP_061923.2	0	1	1	2.025548				19	4339	+				Missense_Mutation	SNP	ENST00000274030.6	0	1	hg19	c.3160C>A	CCDS43265.1	0	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357258	0.61293	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.53857	0.6;0.6	5.89	4.16	0.48862	5.89	4.16	0.48862	.	0.078821	0.53938	D	0.000049	T	0.49626	0.1568	M	0.66939	2.045	0.27596	N	0.949139	P	0.48764	0.915	B	0.40165	0.321	T	0.55730	-0.8095	10	0.87932	D	0	-14.5865	11.5943	0.50964	0.0:0.8585:0.0:0.1415	.	1054	Q70EK8	UBP53_HUMAN	N	1054	ENSP00000274030:H1054N;ENSP00000409906:H1054N	ENSP00000274030:H1054N	H	+	1	0	0	USP53	120433752	120433752	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.876000	0.48498	1.502000	0.48669	0.585000	0.79938	CAT	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	0	0	1	2	19	2	2	1	1	1	1	77	77	77	76	1	1.890000	-4.092103	1	0.230000	XM_052597		0	9	10	0	438	433	0		0	0		1	0	77	0	0	0.038519	4.015073e-02	0	0	0	14	0	9	438
FAT4	79633	broad.mit.edu	37	4	126337730	126337730	+	Missense_Mutation	SNP	G	G	T	rs200719060		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:126337730G>T	ENST00000394329.3	+	6	6984	c.6971G>T	c.(6970-6972)cGg>cTg	p.R2324L	FAT4_ENST00000335110.5_Missense_Mutation_p.R622L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2324	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2324Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCTGGATCGGGAAACAAAA	0.418																																						ENST00000394329.3	0.220000	0.050000	1.700000e-01	8.000000e-02	0.120000	0.133798	0.120000	0.120000																										2	Substitution - Missense(2)	p.R2324Q(2)	large_intestine(2)	355						c.(6970-6972)cGg>cTg		FAT atypical cadherin 4							236.0	229.0	231.0					4																	126337730		2203	4300	6503	SO:0001583	missense	79633	0	0					g.chr4:126337730G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6971G>T	chr4.hg19:g.126337730G>T	ENSP00000377862:p.Arg2324Leu	0					FAT4_ENST00000335110.5_Missense_Mutation_p.R622L	p.R2324L	NM_024582.4	NP_078858.4	0	1	1	2.025548	Q6V0I7	FAT4_HUMAN		6	6984	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	0	1	hg19	c.6971G>T	CCDS3732.3	0	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847652	0.71603	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01599	4.74;4.74	5.33	5.33	0.75918	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.32106	U	0.006577	T	0.11196	0.0273	M	0.80847	2.515	0.58432	D	0.999999	D;D	0.89917	0.991;1.0	D;D	0.69479	0.942;0.964	T	0.02789	-1.1110	10	0.37606	T	0.19	.	19.0466	0.93022	0.0:0.0:1.0:0.0	.	622;2324	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	L	2324;622	ENSP00000377862:R2324L;ENSP00000335169:R622L	ENSP00000335169:R622L	R	+	2	0	0	FAT4	126557180	126557180	1.000000	0.71417	0.989000	0.46669	0.080000	0.17528	9.657000	0.98554	2.493000	0.84123	0.637000	0.83480	CGG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	0	1	2	14	2	2	1	1	1	1	180	180	180	178	1	1.890000	-1.935648	0	0.230000	NM_024582		0	9	9	0	634	625	0		0	0		1	0	180	0	0	0.189794	1.535699e-03	0	0	0	4	0	9	634
PCDH18	54510	broad.mit.edu	37	4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T	rs200753356	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6. {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)	p.R582H(2)		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)					CGTATTATTACGCAATGCAGG	0.463													C|||	4	0.000798722	0.0	0.0029	5008	,	,		22925	0.0		0.0	False		,,,				2504	0.002					ENST00000344876.4	1.000000	0.810000	1	9.000000e-01	0.990000	0.963607	0.990000	1.000000																										2	Substitution - Missense(2)	p.R582H(2)	breast(1)|pancreas(1)	86						c.(1744-1746)cGt>cAt		protocadherin 18		C	HIS/ARG	0,4406		0,0,2203	207.0	193.0	197.0		1745	4.1	0.1	4		197	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCDH18	NM_019035.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	582/1136	138451498	1,13005	2203	4300	6503	SO:0001583	missense	54510	30	121412	52				g.chr4:138451498C>T	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.1745G>A	chr4.hg19:g.138451498C>T	ENSP00000355082:p.Arg582His	0					PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000510305.1_Intron	p.R582H	NM_019035.3	NP_061908.1	0	1	1	2.025548	Q9HCL0	PCD18_HUMAN		1	2131	-	all_hematologic(180;0.24)		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	1	1	hg19	c.1745G>A	CCDS34064.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036444	0.07497	0.0	1.16E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55413	0.61;0.62;0.52	5.93	4.05	0.47172	5.93	4.05	0.47172	Cadherin (2);Cadherin-like (1);	0.321942	0.22435	N	0.060092	T	0.29093	0.0723	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.04752	-1.0929	10	0.42905	T	0.14	.	7.9972	0.30275	0.0:0.5295:0.0:0.4705	.	362;582;582	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	H	582;582;362	ENSP00000355082:R582H;ENSP00000390688:R582H;ENSP00000425903:R362H	ENSP00000355082:R582H	R	-	2	0	0	PCDH18	138670948	138670948	1.000000	0.71417	0.067000	0.19924	0.245000	0.25701	1.744000	0.38268	0.679000	0.31345	0.563000	0.77884	CGT	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.463	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	1	2	2	2	2	0	0	0	0	264	264	264	257	1	1.890000	-20.000000	1	0.230000	NM_019035		0	98	98	0	753	739	1		1	0		0	0	264	0	0	1.000000	1.474198e-01	0	0	0	6	0	98	753
POU4F2	5458	broad.mit.edu	37	4	147560372	147560372	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:147560372C>T	ENST00000281321.3	+	1	328	c.80C>T	c.(79-81)tCg>tTg	p.S27L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	27					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCCAAGTACTCGGCACTGCAC	0.706																																						ENST00000281321.3	1.000000	0.270000	9.200000e-01	4.300000e-01	0.650000	0.668696	0.650000	1.000000																										0				33						c.(79-81)tCg>tTg		POU class 4 homeobox 2							16.0	16.0	16.0					4																	147560372		2153	4223	6376	SO:0001583	missense	5458	0	0					g.chr4:147560372C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.80C>T	chr4.hg19:g.147560372C>T	ENSP00000281321:p.Ser27Leu	0					AC093887.1_ENST00000584185.1_RNA	p.S27L	NM_004575.2	NP_004566.2	0	1	1	2.025548	Q12837	PO4F2_HUMAN		1	328	+	all_hematologic(180;0.151)		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	0	1	hg19	c.80C>T	CCDS34074.1	0	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437096	0.83885	.	.	ENSG00000151615	ENST00000281321	T	0.35048	1.33	4.77	4.77	0.60923	4.77	4.77	0.60923	.	1.187410	0.06496	N	0.735449	T	0.48519	0.1504	L	0.27053	0.805	0.58432	D	0.999999	D	0.58620	0.983	P	0.61201	0.885	T	0.18650	-1.0330	10	0.42905	T	0.14	.	15.2933	0.73882	0.0:1.0:0.0:0.0	.	27	Q12837	PO4F2_HUMAN	L	27	ENSP00000281321:S27L	ENSP00000281321:S27L	S	+	2	0	0	POU4F2	147779822	147779822	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.301000	0.78850	2.189000	0.69895	0.561000	0.74099	TCG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.706	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	0	0	1	2	2	2	2	0	0	0	0	37	37	37	37	1	1.890000	-3.325037	1	0.230000	NM_004575		0	6	5	0	77	76	0		1			0	0	37	0	0	0.964209	0	0	0	0	0	0	6	77
FAM53A	152877	broad.mit.edu	37	4	1656790	1656790	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:1656790C>G	ENST00000308132.6	-	4	989	c.797G>C	c.(796-798)aGt>aCt	p.S266T	FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T|FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T|FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	266						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CCTCTTCCCACTGAGCACGCA	0.677																																						ENST00000308132.6	1.000000	0.650000	1	8.300000e-01	0.990000	0.940481	0.990000	1.000000																										0				10						c.(796-798)aGt>aCt		family with sequence similarity 53, member A							27.0	24.0	25.0					4																	1656790		2202	4300	6502	SO:0001583	missense	152877	0	0					g.chr4:1656790C>G	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.797G>C	chr4.hg19:g.1656790C>G	ENSP00000310057:p.Ser266Thr	0					FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T|FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T|FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T	p.S266T	NM_001174070.1	NP_001167541.1	0	1	1	2.025548	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)	4	989	-		all_epithelial(65;0.206)|Breast(71;0.212)	Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	1	1	hg19	c.797G>C	CCDS33939.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.723|7.723	0.697617|0.697617	0.15106|0.15106	.|.	.|.	ENSG00000174137|ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884|ENST00000489029	T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95|.	4.51|4.51	-5.78|-5.78	0.02362|0.02362	4.51|4.51	-5.78|-5.78	0.02362|0.02362	.|.	0.662582|.	0.12351|.	N|.	0.476531|.	T|T	0.27629|0.27629	0.0679|0.0679	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;P|.	0.34757|.	0.372;0.467|.	B;B|.	0.32677|.	0.15;0.105|.	T|T	0.30179|0.30179	-0.9987|-0.9987	10|5	0.66056|.	D|.	0.02|.	-26.8945|-26.8945	4.7646|4.7646	0.13127|0.13127	0.1041:0.1229:0.124:0.649|0.1041:0.1229:0.124:0.649	.|.	266;266|.	Q6NSI3;C9JYQ7|.	FA53A_HUMAN;.|.	T|L	266|116	ENSP00000310057:S266T;ENSP00000419044:S266T;ENSP00000418243:S266T;ENSP00000426260:S266T|.	ENSP00000310057:S266T|.	S|V	-|-	2|1	0|0	0|0	FAM53A|FAM53A	1626587|1626587	1626587|1626587	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.064000|0.064000	0.16182|0.16182	0.666000|0.666000	0.25097|0.25097	-1.332000|-1.332000	0.02249|0.02249	0.563000|0.563000	0.77884|0.77884	AGT|GTG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.677	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	1	0	1	2	2	2	2	0	0	0	0	36	36	36	34	1	1.890000	-20.000000	1	0.230000	NM_001013622		0	17	17	0	123	117	0		1	0		0	0	36	0	0	0.999965	0	0	0	0	1	0	17	123
RAPGEF2	9693	broad.mit.edu	37	4	160251634	160251634	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:160251634C>A	ENST00000264431.4	+	7	1387	c.968C>A	c.(967-969)cCg>cAg	p.P323Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	323	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTAATGACCCGAGCCTCAGG	0.343																																						ENST00000264431.4	0.300000	0.090000	2.400000e-01	1.200000e-01	0.170000	0.188122	0.170000	0.170000																										0				70						c.(967-969)cCg>cAg		Rap guanine nucleotide exchange factor (GEF) 2							109.0	102.0	105.0					4																	160251634		1822	4076	5898	SO:0001583	missense	9693	0	0					g.chr4:160251634C>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.968C>A	chr4.hg19:g.160251634C>A	ENSP00000264431:p.Pro323Gln	0						p.P323Q	NM_014247.2	NP_055062.1	0	1	1	2.025548	Q9Y4G8	RPGF2_HUMAN		7	1387	+	all_hematologic(180;0.24)		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	0	1	hg19	c.968C>A	CCDS43277.1	0	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260007	0.80246	.	.	ENSG00000109756	ENST00000264431	T	0.51071	0.72	5.78	5.78	0.91487	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	L	0.46819	1.47	0.80722	D	1	B	0.32829	0.386	B	0.43413	0.419	T	0.45483	-0.9258	10	0.37606	T	0.19	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	323	Q9Y4G8	RPGF2_HUMAN	Q	323	ENSP00000264431:P323Q	ENSP00000264431:P323Q	P	+	2	0	0	RAPGEF2	160471084	160471084	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.825000	0.62708	2.894000	0.99253	0.655000	0.94253	CCG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.343	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	0	0	1	2	16	2	2	1	1	1	1	126	126	126	124	1	1.890000	-2.041205	0	0.230000	NM_014247		0	11	13	0	537	526	0		0	0		1	0	126	0	0	0.204056	4.350460e-02	0	0	0	15	0	11	537
GRK4	2868	broad.mit.edu	37	4	3030990	3030990	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:3030990C>A	ENST00000398052.4	+	12	1466	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	GRK4_ENST00000398051.4_Missense_Mutation_p.L343M|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000504933.1_Missense_Mutation_p.L375M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTTGGCTGTCTGATCTATGA	0.368																																						ENST00000398052.4	0.300000	0.070000	2.300000e-01	1.100000e-01	0.160000	0.178505	0.160000	0.160000																										0				2						c.(1123-1125)Ctg>Atg		G protein-coupled receptor kinase 4							96.0	96.0	96.0					4																	3030990		2203	4300	6503	SO:0001583	missense	2868	0	0					g.chr4:3030990C>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1123C>A	chr4.hg19:g.3030990C>A	ENSP00000381129:p.Leu375Met	0					GRK4_ENST00000504933.1_Missense_Mutation_p.L375M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M|GRK4_ENST00000398051.4_Missense_Mutation_p.L343M	p.L375M	NM_182982.2	NP_892027.2	0	1	1	2.025548	P32298	GRK4_HUMAN		12	1466	+			O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	0	1	hg19	c.1123C>A	CCDS33946.1	0	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321713	0.60634	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.21	3.38	0.38709	5.21	3.38	0.38709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000015	T	0.26738	0.0654	N	0.11724	0.165	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.992;1.0	D;D;D;D	0.97110	1.0;0.989;0.949;1.0	T	0.12578	-1.0542	10	0.62326	D	0.03	-12.6799	4.8167	0.13371	0.0:0.5828:0.1638:0.2534	.	343;343;375;375	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	M	343;375;343;375	ENSP00000381128:L343M;ENSP00000381129:L375M;ENSP00000264764:L343M;ENSP00000427445:L375M	ENSP00000264764:L343M	L	+	1	2	2	GRK4	3000788	3000788	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.647000	0.37260	0.606000	0.29965	0.643000	0.83706	CTG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.368	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	0	0	0	2	2	2	2	0	0	0	0	99	99	99	99	1	1.890000	-7.355640	1	0.230000	NM_005307		0	8	8	0	424	420	0		1	0		0	0	99	0	0	0.989104	0	0	0	0	1	0	8	424
CYTL1	54360	broad.mit.edu	37	4	5016889	5016889	+	Missense_Mutation	SNP	G	G	T	rs137887145	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:5016889G>T	ENST00000307746.4	-	4	426	c.400C>A	c.(400-402)Cgt>Agt	p.R134S		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	134					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TAGCGCTGACGATCTGGCAGG	0.488																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4	0.310000	0.080000	2.400000e-01	1.200000e-01	0.170000	0.187617	0.170000	0.170000																										0				11						c.(400-402)Cgt>Agt		cytokine-like 1							128.0	115.0	119.0					4																	5016889		2203	4300	6503	SO:0001583	missense	54360	0	0					g.chr4:5016889G>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.400C>A	chr4.hg19:g.5016889G>T	ENSP00000303550:p.Arg134Ser	0						p.R134S	NM_018659.2	NP_061129.1	0	1	1	2.025548	Q9NRR1	CYTL1_HUMAN		4	426	-				Missense_Mutation	SNP	ENST00000307746.4	0	1	hg19	c.400C>A	CCDS3379.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.983|6.983	0.551462|0.551462	0.13374|0.13374	.|.	.|.	ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000506508	T|.	0.28454|.	1.61|.	4.4|4.4	1.35|1.35	0.21983|0.21983	4.4|4.4	1.35|1.35	0.21983|0.21983	.|.	2.772270|.	0.00864|.	N|.	0.001945|.	T|.	0.11793|.	0.0287|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.25609|.	0.13|.	B|.	0.19946|.	0.027|.	T|.	0.25537|.	-1.0129|.	10|.	0.21540|.	T|.	0.41|.	0.151|0.151	1.9715|1.9715	0.03407|0.03407	0.1191:0.202:0.4717:0.2072|0.1191:0.202:0.4717:0.2072	.|.	134|.	Q9NRR1|.	CYTL1_HUMAN|.	S|X	134|73	ENSP00000303550:R134S|.	ENSP00000303550:R134S|.	R|S	-|-	1|2	0|0	0|0	CYTL1|CYTL1	5067790|5067790	5067790|5067790	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.027000|0.027000	0.11550|0.11550	0.318000|0.318000	0.19504|0.19504	0.270000|0.270000	0.21984|0.21984	0.511000|0.511000	0.50034|0.50034	CGT|TCG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.488	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	0	0	1	2	2	2	2	0	0	0	0	90	90	90	88	1	1.890000	-3.130563	1	0.230000	NM_018659		0	9	9	0	448	440	0		1	0		0	0	90	0	0	0.993838	1.271624e-01	0	0	0	28	0	9	448
KLHL5	51088	broad.mit.edu	37	4	39064285	39064285	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39064285C>A	ENST00000504108.1	+	1	434	c.151C>A	c.(151-153)Cgt>Agt	p.R51S	KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S|KLHL5_ENST00000261425.3_Missense_Mutation_p.R5S|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	51						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTCTGGTTCTCGTAAAGAGTT	0.433																																						ENST00000504108.1	0.210000	0.050000	1.700000e-01	8.000000e-02	0.120000	0.130298	0.120000	0.120000																										0				29						c.(151-153)Cgt>Agt		kelch-like family member 5							215.0	202.0	207.0					4																	39064285		2203	4300	6503	SO:0001583	missense	51088	0	0					g.chr4:39064285C>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.151C>A	chr4.hg19:g.39064285C>A	ENSP00000423897:p.Arg51Ser	0					KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S|KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000261425.3_Missense_Mutation_p.R5S|KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S	p.R51S	NM_015990.4	NP_057074.3	0	1	1	2.025548	Q96PQ7	KLHL5_HUMAN		1	434	+			A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	0	1	hg19	c.151C>A	CCDS33974.1	0	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761994	0.69763	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T	0.78364	-0.82;-0.88;-0.8;-0.82;-1.17	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.086461	0.45867	D	0.000335	D	0.82724	0.5099	L	0.29908	0.895	0.58432	D	0.999997	D;P;D	0.63046	0.978;0.931;0.992	D;B;D	0.70487	0.969;0.391;0.969	D	0.84906	0.0845	10	0.87932	D	0	.	19.0941	0.93242	0.0:1.0:0.0:0.0	.	51;51;51	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	S	85;5;51;51;51;51	ENSP00000261425:R5S;ENSP00000423897:R51S;ENSP00000352716:R51S;ENSP00000371355:R51S;ENSP00000261426:R51S	ENSP00000261425:R5S	R	+	1	0	0	KLHL5	38740680	38740680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.883000	0.56168	2.578000	0.87016	0.650000	0.86243	CGT	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.433	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1	0	0	1	2	2	2	2	0	0	0	0	208	208	208	206	1	1.890000	-1.977773	0	0.230000			0	10	11	0	717	704	0		1	0		0	0	208	0	0	0.996631	6.468438e-03	0	0	0	8	0	10	717
GABRA2	2555	broad.mit.edu	37	4	46305547	46305547	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:46305547G>T	ENST00000510861.1	-	8	959	c.786C>A	c.(784-786)atC>atA	p.I262I	GABRA2_ENST00000514090.1_Silent_p.I262I|GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000507069.1_Silent_p.I262I|GABRA2_ENST00000356504.1_Silent_p.I262I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	262					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGACAGTCATGATGCAAGGCA	0.388																																						ENST00000510861.1	1.000000	0.820000	1	9.400000e-01	0.990000	0.978450	0.990000	1.000000																										0				56						c.(784-786)atC>atA		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)						137.0	134.0	135.0					4																	46305547		2203	4300	6503	SO:0001819	synonymous_variant	2555	0	0					g.chr4:46305547G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.786C>A	chr4.hg19:g.46305547G>T		0					GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000514090.1_Silent_p.I262I|GABRA2_ENST00000356504.1_Silent_p.I262I|GABRA2_ENST00000507069.1_Silent_p.I262I	p.I262I			0	1	1	2.025548	P47869	GBRA2_HUMAN		8	959	-			A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	1	1	hg19	c.786C>A	CCDS3471.1	1																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.388	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2	1	0	1	2	2	2	2	0	0	0	0	86	86	86	86	1	1.890000	-19.840030	1	0.230000			0	51	51	0	358	349	1		1			0	0	86	0	0	1.000000	0	0	0	0	0	0	51	358
EXOC1	55763	broad.mit.edu	37	4	56744167	56744167	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:56744167C>A	ENST00000381295.2	+	9	1507	c.1159C>A	c.(1159-1161)Cga>Aga	p.R387R	EXOC1_ENST00000346134.7_Silent_p.R387R|EXOC1_ENST00000349598.6_Silent_p.R387R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	387					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGATTTGCTCCGATATGCCAA	0.393																																						ENST00000381295.2	0.320000	0.080000	2.500000e-01	1.300000e-01	0.180000	0.196542	0.180000	0.180000																										0				35						c.(1159-1161)Cga>Aga		exocyst complex component 1							145.0	131.0	135.0					4																	56744167		2203	4300	6503	SO:0001819	synonymous_variant	55763	0	0					g.chr4:56744167C>A	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1159C>A	chr4.hg19:g.56744167C>A		0					EXOC1_ENST00000346134.7_Silent_p.R387R|EXOC1_ENST00000349598.6_Silent_p.R387R	p.R387R	NM_001024924.1	NP_001020095.1	0	1	1	2.025548	Q9NV70	EXOC1_HUMAN		9	1507	+	Glioma(25;0.08)|all_neural(26;0.101)		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	0	1	hg19	c.1159C>A	CCDS3502.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.393	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	0	0	1	2	2	2	2	0	0	0	0	118	118	118	118	1	1.890000	-2.755615	1	0.230000	NM_018261		0	9	8	0	427	423	0		1	0		0	0	118	0	0	0.994016	1.687800e-01	0	0	0	32	0	9	427
EPHA5	2044	broad.mit.edu	37	4	66509135	66509135	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:66509135C>A	ENST00000273854.3	-	2	792	c.192G>T	c.(190-192)ttG>ttT	p.L64F	EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F|EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	64	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCGTGAATCCAATAAATTCA	0.308										TSP Lung(17;0.13)																												ENST00000273854.3	0.390000	0.100000	3.100000e-01	1.500000e-01	0.220000	0.235591	0.220000	0.210000																										0				142						c.(190-192)ttG>ttT		EPH receptor A5							48.0	49.0	49.0					4																	66509135		2203	4299	6502	SO:0001583	missense	2044	0	0					g.chr4:66509135C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.192G>T	chr4.hg19:g.66509135C>A	ENSP00000273854:p.Leu64Phe	0	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F	p.L64F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	0	1	1	2.025548	P54756	EPHA5_HUMAN		2	792	-			Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	0	1	hg19	c.192G>T	CCDS3513.1	0	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704062	0.68615	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.52	4.45	0.53987	5.52	4.45	0.53987	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.43747	D	0.000538	T	0.32346	0.0826	M	0.86502	2.82	0.46356	D	0.999002	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.989;0.999;1.0	T	0.07481	-1.0770	10	0.87932	D	0	.	13.0437	0.58915	0.0:0.8901:0.0:0.1099	.	64;64;64;64	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	64	ENSP00000273854:L64F;ENSP00000389208:L64F;ENSP00000346899:L64F;ENSP00000427638:L64F	ENSP00000273854:L64F	L	-	3	2	2	EPHA5	66191730	66191730	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.486000	0.53215	2.753000	0.94483	0.467000	0.42956	TTG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.308	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	0	0	1	2	2	2	2	0	0	0	0	65	65	65	65	1	1.890000	-3.072403	1	0.230000	NM_004439		0	8	8	0	318	313	0		1			0	0	65	0	0	0.988914	0	0	0	0	0	0	8	318
STAP1	26228	broad.mit.edu	37	4	68436855	68436855	+	Silent	SNP	C	C	A	rs575858699		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68436855C>A	ENST00000265404.2	+	2	256	c.174C>A	c.(172-174)acC>acA	p.T58T	STAP1_ENST00000396225.1_Silent_p.T58T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	58	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCTTTTATACCGACAAAAAGA	0.328																																						ENST00000265404.2	0.200000	0.060000	1.700000e-01	8.000000e-02	0.120000	0.131081	0.120000	0.120000																										0				12						c.(172-174)acC>acA		signal transducing adaptor family member 1							125.0	142.0	137.0					4																	68436855		2203	4298	6501	SO:0001819	synonymous_variant	26228	0	0					g.chr4:68436855C>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.174C>A	chr4.hg19:g.68436855C>A		0					STAP1_ENST00000396225.1_Silent_p.T58T	p.T58T	NM_012108.2	NP_036240.1	0	1	1	2.025548	Q9ULZ2	STAP1_HUMAN		2	256	+			B2R980	Silent	SNP	ENST00000265404.2	0	1	hg19	c.174C>A	CCDS3515.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.328	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	0	0	1	2	18	2	2	0	0	0	1	161	161	161	160	1	1.890000	-1.698856	0	0.230000	NM_012108		0	12	12	0	843	824	0		0	0		0	0	161	0	0	0.161993	1.226381e-02	0	0	0	11	0	12	843
SLC4A4	8671	broad.mit.edu	37	4	72319302	72319302	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:72319302G>T	ENST00000264485.5	+	12	1530	c.1413G>T	c.(1411-1413)tcG>tcT	p.S471S	SLC4A4_ENST00000425175.1_Silent_p.S471S|SLC4A4_ENST00000351898.6_Silent_p.S471S|SLC4A4_ENST00000340595.3_Silent_p.S427S|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.S427S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	471			S -> L (in pRTA-OA; mistargeting to the apical membrane and altered function). {ECO:0000269|PubMed:15471865, ECO:0000269|PubMed:15713912}.		bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AAGCTCTTTCGGCAATTCTCT	0.413																																						ENST00000264485.5	0.280000	0.100000	2.300000e-01	1.300000e-01	0.170000	0.188244	0.170000	0.180000																										0				58						c.(1411-1413)tcG>tcT		solute carrier family 4 (sodium bicarbonate cotransporter), member 4	Sodium bicarbonate(DB01390)						203.0	202.0	202.0					4																	72319302		2203	4300	6503	SO:0001819	synonymous_variant	8671	0	0					g.chr4:72319302G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1413G>T	chr4.hg19:g.72319302G>T		0					SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Silent_p.S471S|SLC4A4_ENST00000512686.1_Silent_p.S427S|SLC4A4_ENST00000340595.3_Silent_p.S427S|SLC4A4_ENST00000425175.1_Silent_p.S471S	p.S471S	NM_001098484.2	NP_001091954.1	0	1	1	2.025548	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)	12	1530	+			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	0	1	hg19	c.1413G>T	CCDS43236.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.413	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	0	0	1	2	2	2	2	0	0	0	0	181	181	181	179	1	1.890000	-2.128214	0	0.230000	NM_003759		0	15	11	0	717	707	0		1	0		0	0	181	0	0	0.999849	9.731872e-03	0	0	0	7	0	15	717
AFF1	4299	broad.mit.edu	37	4	87968161	87968161	+	Silent	SNP	C	C	T	rs549441433		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:87968161C>T	ENST00000307808.6	+	3	873	c.453C>T	c.(451-453)tgC>tgT	p.C151C	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.C158C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	151					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCAAAAGCTGCGGCCCACCGG	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18611	0.0		0.0	False		,,,				2504	0.0					ENST00000307808.6	0.330000	0.050000	2.500000e-01	1.000000e-01	0.160000	0.178003	0.160000	0.150000																										0				3						c.(451-453)tgC>tgT		AF4/FMR2 family, member 1							79.0	78.0	78.0					4																	87968161		2203	4300	6503	SO:0001819	synonymous_variant	4299	3	121412	36				g.chr4:87968161C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.453C>T	chr4.hg19:g.87968161C>T		0					AFF1_ENST00000395146.4_Silent_p.C158C|AFF1_ENST00000544085.1_Intron	p.C151C	NM_005935.2	NP_005926.1	0	1	1	2.025548	P51825	AFF1_HUMAN		3	873	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	0	1	hg19	c.453C>T	CCDS3616.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.567	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	0	0	1	2	14	3	2	1	1	1	1	72	72	72	72	1	1.890000	-2.718037	1	0.230000	NM_005935		0	5	5	0	282	277	0		0	0		1	0	72	0	0	0.026613	2.143617e-02	0	0	0	26	0	5	282
KLHL8	57563	broad.mit.edu	37	4	88084792	88084792	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:88084792C>A	ENST00000273963.5	-	10	2083	c.1742G>T	c.(1741-1743)tGg>tTg	p.W581L	KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	581					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AACAAGCTCCCACCTGAAAAG	0.398																																						ENST00000273963.5	0.440000	0.120000	3.500000e-01	1.800000e-01	0.250000	0.271600	0.250000	0.250000																										0				17						c.(1741-1743)tGg>tTg		kelch-like family member 8							85.0	80.0	82.0					4																	88084792		2203	4300	6503	SO:0001583	missense	57563	0	0					g.chr4:88084792C>A	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1742G>T	chr4.hg19:g.88084792C>A	ENSP00000273963:p.Trp581Leu	0					KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L|KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L	p.W581L	NM_020803.3	NP_065854.3	0	1	1	2.025548	Q9P2G9	KLHL8_HUMAN		10	2083	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	0	1	hg19	c.1742G>T	CCDS3617.1	0	.	.	.	.	.	.	.	.	.	.	C	31	5.081410	0.94050	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.7	5.7	0.88788	5.7	5.7	0.88788	Galactose oxidase, beta-propeller (1);	0.061501	0.64402	D	0.000001	D	0.98899	0.9627	H	0.98178	4.165	0.80722	D	1	P;D;D	0.65815	0.896;0.986;0.995	P;P;D	0.67548	0.673;0.907;0.952	D	0.99437	1.0937	10	0.87932	D	0	.	18.0017	0.89199	0.0:1.0:0.0:0.0	.	398;505;581	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	L	581;505;398;230;581	ENSP00000273963:W581L;ENSP00000426451:W505L;ENSP00000408854:W398L;ENSP00000439514:W230L;ENSP00000424131:W581L	ENSP00000273963:W581L	W	-	2	0	0	KLHL8	88303816	88303816	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.476000	0.81055	2.693000	0.91896	0.467000	0.42956	TGG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.398	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1	0	0	1	2	2	2	2	1	1	1	0	82	82	82	79	1	1.890000	-2.551533	1	0.230000			0	9	9	0	305	300	0		1	0		1	0	82	0	0	0.993877	6.486426e-02	0	0	0	13	0	9	305
CPE	1363	broad.mit.edu	37	4	166418743	166418743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:166418743C>A	ENST00000402744.4	+	9	1692	c.1412C>A	c.(1411-1413)tCa>tAa	p.S471*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	471					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAAATGATGTCAGAAACTTTA	0.303																																						ENST00000402744.4	0.550000	0.150000	4.400000e-01	2.300000e-01	0.320000	0.340968	0.320000	0.300000																										0				26						c.(1411-1413)tCa>tAa		carboxypeptidase E	"""Insulin(DB00071)|Insulin Regular(DB00030)"						70.0	72.0	71.0					4																	166418743		2201	4295	6496	SO:0001587	stop_gained	1363	0	0					g.chr4:166418743C>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1412C>A	chr4.hg19:g.166418743C>A	ENSP00000386104:p.Ser471*	0						p.S471*	NM_001873.2	NP_001864.1	0	1	1	2.025548	P16870	CBPE_HUMAN		9	1692	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Nonsense_Mutation	SNP	ENST00000402744.4	0	1	hg19	c.1412C>A	CCDS3810.1	0	.	.	.	.	.	.	.	.	.	.	C	39	7.734767	0.98459	.	.	ENSG00000109472	ENST00000402744	.	.	.	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.158173	0.44688	D	0.000421	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7725	20.6647	0.99678	0.0:1.0:0.0:0.0	.	.	.	.	X	471	.	ENSP00000386104:S471X	S	+	2	0	0	CPE	166638193	166638193	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.891000	0.75639	2.890000	0.99128	0.655000	0.94253	TCA	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.303	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	0	0	1	2	2	2	2	0	0	0	0	41	41	41	40	1	1.890000	-3.024748	1	0.230000	NM_001873		0	9	9	0	240	234	0		1	0		0	0	41	0	0	0.993805	9.997680e-01	0	1	0	446	0	9	240
FBN2	2201	broad.mit.edu	37	5	127730895	127730895	+	Missense_Mutation	SNP	G	G	A	rs371826887		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:127730895G>A	ENST00000508053.1	-	15	2125	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	FBN2_ENST00000508989.1_Missense_Mutation_p.T351M|FBN2_ENST00000262464.4_Missense_Mutation_p.T384M			P35556	FBN2_HUMAN	fibrillin 2	384	TB 2.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCATTTTCGTCATTCTCCC	0.542																																						ENST00000508053.1	1.000000	0.700000	1	8.700000e-01	0.990000	0.954747	0.990000	1.000000																										0				197						c.(1150-1152)aCg>aTg		fibrillin 2		G	MET/THR	0,4406		0,0,2203	87.0	80.0	82.0		1151	4.4	1.0	5		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN2	NM_001999.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	384/2913	127730895	1,13005	2203	4300	6503	SO:0001583	missense	2201	1	121412	27				g.chr5:127730895G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1151C>T	chr5.hg19:g.127730895G>A	ENSP00000424571:p.Thr384Met	0					FBN2_ENST00000262464.4_Missense_Mutation_p.T384M|FBN2_ENST00000508989.1_Missense_Mutation_p.T351M	p.T384M			1	2	3	2.029192	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	15	2125	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	1	1	hg19	c.1151C>T	CCDS34222.1	1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892566	0.52121	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.95412	-3.7;-3.7;-3.7	4.44	4.44	0.53790	4.44	4.44	0.53790	Matrix fibril-associated (3);TGF-beta binding (1);	0.176842	0.36303	N	0.002669	D	0.97586	0.9209	M	0.86502	2.82	0.42420	D	0.992637	D;D	0.71674	0.998;0.984	P;P	0.60345	0.873;0.739	D	0.98218	1.0476	10	0.66056	D	0.02	.	18.389	0.90475	0.0:0.0:1.0:0.0	.	351;384	D6RJI3;P35556	.;FBN2_HUMAN	M	384;384;351	ENSP00000262464:T384M;ENSP00000424571:T384M;ENSP00000425596:T351M	ENSP00000262464:T384M	T	-	2	0	0	FBN2	127758794	127758794	1.000000	0.71417	0.959000	0.39883	0.816000	0.46133	5.699000	0.68310	2.750000	0.94351	0.655000	0.94253	ACG	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.542	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	1	2	2	2	2	0	0	0	0	41	41	41	41	1	1.890000	-20.000000	1	0.230000	NM_001999		0	23	23	0	165	160	1		1	0		0	0	41	0	0	0.999999	1.636126e-02	0	0	0	2	0	23	165
ACSL6	23305	broad.mit.edu	37	5	131323807	131323807	+	Missense_Mutation	SNP	G	G	T	rs374665597		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:131323807G>T	ENST00000379240.1	-	7	843	c.690C>A	c.(688-690)ttC>ttA	p.F230L	ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000379264.2_Missense_Mutation_p.F255L|ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L|ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	230					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTTCTTCGAATGGGTCCA	0.562																																						ENST00000379240.1	0.230000	0.060000	1.700000e-01	9.000000e-02	0.120000	0.144591	0.120000	0.120000																										0				35						c.(688-690)ttC>ttA		acyl-CoA synthetase long-chain family member 6							307.0	281.0	290.0					5																	131323807		2203	4300	6503	SO:0001583	missense	23305	0	0					g.chr5:131323807G>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.690C>A	chr5.hg19:g.131323807G>T	ENSP00000368542:p.Phe230Leu	0					ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379264.2_Missense_Mutation_p.F255L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L	p.F230L			1	2	3	2.029192	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	7	843	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	0	1	hg19	c.690C>A		0	.	.	.	.	.	.	.	.	.	.	g	7.687	0.690340	0.15039	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.92	-11.8	0.00035	5.92	-11.8	0.00035	AMP-dependent synthetase/ligase (1);	0.095334	0.85682	D	0.000000	T	0.20536	0.0494	N	0.17312	0.475	0.30886	N	0.730933	B;B;B;B;B;B;B	0.22909	0.063;0.005;0.007;0.077;0.005;0.005;0.005	B;B;B;B;B;B;B	0.35353	0.127;0.014;0.015;0.201;0.009;0.014;0.014	T	0.40001	-0.9586	10	0.19147	T	0.46	.	18.3368	0.90291	0.7201:0.0:0.2185:0.0614	.	230;245;220;230;195;255;255	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	L	230;255;245;195;195;255;241;230;139;230;210;230;195	ENSP00000368551:F230L;ENSP00000368566:F255L;ENSP00000368574:F245L;ENSP00000349608:F195L;ENSP00000368557:F195L;ENSP00000296869:F255L;ENSP00000368548:F241L;ENSP00000368546:F230L;ENSP00000445154:F139L;ENSP00000368542:F230L;ENSP00000413329:F210L;ENSP00000442124:F230L;ENSP00000397507:F195L	ENSP00000296869:F255L	F	-	3	2	2	ACSL6	131351706	131351706	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.418000	0.02462	-3.672000	0.00123	-3.369000	0.00041	TTC	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.562	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	0	0	1	2	2	2	2	0	0	0	0	263	263	263	262	1	1.890000	-2.222872	0	0.230000	NM_015256		0	13	12	0	878	864	0		1			0	0	263	0	0	0.999474	0	0	0	0	0	0	13	878
ZCCHC10	54819	broad.mit.edu	37	5	132362202	132362202	+	Missense_Mutation	SNP	C	C	T	rs143508297		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:132362202C>T	ENST00000509437.1	-	1	35	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.A10T			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	10							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCTCCGGGCTATTAGCCGA	0.642																																						ENST00000509437.1	1.000000	0.590000	1	7.400000e-01	0.920000	0.889985	0.920000	1.000000																										0				1						c.(28-30)Gcc>Acc		zinc finger, CCHC domain containing 10							29.0	29.0	29.0					5																	132362202		2203	4300	6503	SO:0001583	missense	54819	16	121382	45				g.chr5:132362202C>T	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"""Zinc fingers, CCHC domain containing"""	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.28G>A	chr5.hg19:g.132362202C>T	ENSP00000423276:p.Ala10Thr	0					ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR	p.A10T			1	2	3	2.029192	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	1	35	-			Q9NXR4	Missense_Mutation	SNP	ENST00000509437.1	0	1	hg19	c.28G>A		1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919083	0.52546	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848;ENST00000513541;ENST00000509008;ENST00000504170	.	.	.	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.059049	0.64402	D	0.000003	T	0.70159	0.3192	.	.	.	0.31611	N	0.651506	D;D;D	0.67145	0.988;0.993;0.996	D;D;D	0.73708	0.981;0.956;0.981	T	0.73600	-0.3931	8	0.51188	T	0.08	.	15.1619	0.72791	0.0:1.0:0.0:0.0	.	10;10;10	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	T	10	.	ENSP00000324274:A10T	A	-	1	0	0	ZCCHC10	132390101	132390101	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.062000	0.57492	2.683000	0.91414	0.591000	0.81541	GCC	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.642	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	0	0	1	2	2	5	2	1	1	1	0	55	55	55	55	1	1.890000	-6.945106	1	0.230000	NM_017665		0	21	21	0	178	176	1		1	1		1	0	55	0	0	0.999998	5.938265e-01	0	6	0	42	0	21	178
FAM13B	51306	broad.mit.edu	37	5	137278825	137278825	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:137278825G>T	ENST00000033079.3	-	20	2806	c.2355C>A	c.(2353-2355)atC>atA	p.I785I	FAM13B_ENST00000420893.2_Silent_p.I757I|FAM13B_ENST00000425075.2_Silent_p.I661I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	785					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GGATTACCTTGATTTCTTCAA	0.363																																						ENST00000033079.3	0.380000	0.080000	2.800000e-01	1.300000e-01	0.190000	0.214545	0.190000	0.180000																										0				11						c.(2353-2355)atC>atA		family with sequence similarity 13, member B							95.0	97.0	96.0					5																	137278825		2203	4300	6503	SO:0001819	synonymous_variant	51306	0	0					g.chr5:137278825G>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2355C>A	chr5.hg19:g.137278825G>T		0					FAM13B_ENST00000425075.2_Silent_p.I661I|FAM13B_ENST00000420893.2_Silent_p.I757I	p.I785I	NM_016603.2	NP_057687.2	1	2	3	2.029192	Q9NYF5	FA13B_HUMAN		20	2806	-			D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	0	1	hg19	c.2355C>A	CCDS4195.1	0																																																																																								0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.363	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1	0	0	1	2	2	2	2	0	0	0	0	68	68	68	67	1	1.890000	-7.866285	1	0.230000			0	8	8	0	366	360	0		1	0		0	0	68	0	0	0.988836	1.564346e-01	0	0	0	28	0	8	366
FAT2	2196	broad.mit.edu	37	5	150907603	150907603	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:150907603G>T	ENST00000261800.5	-	15	10130	c.10118C>A	c.(10117-10119)cCc>cAc	p.P3373H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3373	Cadherin 30. {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)			CCCCTTTTTGGGGTGAATGGT	0.562																																						ENST00000261800.5	0.430000	0.110000	3.200000e-01	1.600000e-01	0.230000	0.249955	0.230000	0.220000																										0				196						c.(10117-10119)cCc>cAc		FAT atypical cadherin 2							113.0	102.0	106.0					5																	150907603		2203	4300	6503	SO:0001583	missense	2196	3	121412	34				g.chr5:150907603G>T	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.10118C>A	chr5.hg19:g.150907603G>T	ENSP00000261800:p.Pro3373His	0						p.P3373H	NM_001447.2	NP_001438.1	1	2	3	2.029192	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	15	10130	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	0	1	hg19	c.10118C>A	CCDS4317.1	0	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953301	0.92660	.	.	ENSG00000086570	ENST00000261800	T	0.55234	0.53	5.73	5.73	0.89815	5.73	5.73	0.89815	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.73806	0.3634	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74757	-0.3557	10	0.66056	D	0.02	.	19.9191	0.97079	0.0:0.0:1.0:0.0	.	3373;564	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	H	3373	ENSP00000261800:P3373H	ENSP00000261800:P3373H	P	-	2	0	0	FAT2	150887796	150887796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.349000	0.97066	2.707000	0.92482	0.643000	0.83706	CCC	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.562	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	0	1	2	2	2	2	0	0	0	0	105	105	105	105	1	1.890000	-2.382945	0	0.230000	NM_001447		0	9	9	0	345	338	0		1			0	0	105	0	0	0.993827	0	0	0	0	0	0	9	345
FAM114A2	10827	broad.mit.edu	37	5	153381896	153381896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:153381896C>A	ENST00000351797.4	-	11	1247	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321*	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	391							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TGGAATAGTTCAATTGAGCAG	0.443																																						ENST00000351797.4	0.310000	0.070000	2.300000e-01	1.100000e-01	0.160000	0.179567	0.160000	0.160000																										0				18						c.(1171-1173)Gaa>Taa		family with sequence similarity 114, member A2							136.0	129.0	131.0					5																	153381896		2203	4300	6503	SO:0001587	stop_gained	10827	0	0					g.chr5:153381896C>A	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1171G>T	chr5.hg19:g.153381896C>A	ENSP00000341597:p.Glu391*	0					FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321*	p.E391*	NM_018691.2	NP_061161.2	1	2	3	2.029192	Q9NRY5	F1142_HUMAN		11	1247	-			B2R8D8|Q9H7E0	Nonsense_Mutation	SNP	ENST00000351797.4	0	1	hg19	c.1171G>T	CCDS4323.1	0	.	.	.	.	.	.	.	.	.	.	C	38	6.870452	0.97901	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	.	.	.	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.3981	19.2161	0.93778	0.0:1.0:0.0:0.0	.	.	.	.	X	391;391;391;321	.	ENSP00000341597:E391X	E	-	1	0	0	FAM114A2	153362089	153362089	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.954000	0.70298	2.834000	0.97654	0.655000	0.94253	GAA	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.443	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	0	0	1	2	2	2	2	0	0	0	0	143	143	143	142	1	1.890000	-2.745085	1	0.230000	NM_018691		0	9	9	0	494	481	0		1	0		0	0	143	0	0	0.993519	1.755010e-01	0	0	0	38	0	9	494
NSD1	64324	broad.mit.edu	37	5	176562201	176562201	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:176562201G>T	ENST00000439151.2	+	2	142	c.97G>T	c.(97-99)Ggt>Tgt	p.G33C	NSD1_ENST00000354179.4_Splice_Site_p.S10S|NSD1_ENST00000361032.4_Missense_Mutation_p.G33C|NSD1_ENST00000511258.1_Splice_Site_p.S10S|NSD1_ENST00000347982.4_Splice_Site_p.S10S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	33					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGCCCTTTCGGTAATGGTCA	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2	0.360000	0.110000	2.800000e-01	1.500000e-01	0.210000	0.226877	0.210000	0.200000				Dom	yes			Dom	yes		5	5q35	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	yes	Sotos Syndrome	L	L	NUP98		AML		0				96						c.(97-99)Ggt>Tgt		nuclear receptor binding SET domain protein 1							134.0	123.0	127.0					5																	176562201		2203	4300	6503	SO:0001583	missense	64324	0	0		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	g.chr5:176562201G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.97G>T	chr5.hg19:g.176562201G>T	ENSP00000395929:p.Gly33Cys	0	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.G33C|NSD1_ENST00000347982.4_Splice_Site_p.S10S|NSD1_ENST00000354179.4_Splice_Site_p.S10S|NSD1_ENST00000511258.1_Splice_Site_p.S10S	p.G33C	NM_022455.4	NP_071900.2	1	2	3	2.029192	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	2	142	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	0	1	hg19	c.97G>T	CCDS4412.1	0	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712868	0.48517	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.98075	-4.08;-4.7	5.23	2.44	0.29823	5.23	2.44	0.29823	.	0.132495	0.34802	N	0.003666	D	0.95452	0.8523	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.64776	0.929;0.85;0.84	D	0.93176	0.6570	10	0.41790	T	0.15	.	9.6226	0.39730	0.0744:0.2682:0.6574:0.0	.	33;33;33	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	C	33	ENSP00000395929:G33C;ENSP00000354310:G33C	ENSP00000354310:G33C	G	+	1	0	0	NSD1	176494807	176494807	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.600000	0.67599	0.339000	0.23719	0.555000	0.69702	GGT	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.448	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	0	0	1	2	2	2	2	0	0	0	0	151	151	151	150	1	1.890000	-2.314746	0	0.230000	NM_172349		0	14	13	0	577	564	0		1	0		0	0	151	0	0	0.999713	3.722014e-02	0	0	0	12	0	14	577
SEMA5A	9037	broad.mit.edu	37	5	9197320	9197320	+	Nonsense_Mutation	SNP	G	G	T	rs200772051		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:9197320G>T	ENST00000382496.5	-	10	1693	c.1028C>A	c.(1027-1029)tCg>tAg	p.S343*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	343	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TAGCCAGGCCGAGCGCGAGTT	0.587																																						ENST00000382496.5	0.340000	0.100000	2.600000e-01	1.400000e-01	0.190000	0.214812	0.190000	0.200000																										0				81						c.(1027-1029)tCg>tAg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							88.0	86.0	86.0					5																	9197320		2203	4300	6503	SO:0001587	stop_gained	9037	0	0					g.chr5:9197320G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1028C>A	chr5.hg19:g.9197320G>T	ENSP00000371936:p.Ser343*	0						p.S343*	NM_003966.2	NP_003957.2	1	2	3	2.028763	Q13591	SEM5A_HUMAN		10	1693	-			D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	0	1	hg19	c.1028C>A	CCDS3875.1	0	.	.	.	.	.	.	.	.	.	.	G	45	12.020084	0.99627	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7642	0.85520	0.0:0.0:1.0:0.0	.	.	.	.	X	343	.	ENSP00000371936:S343X	S	-	2	0	0	SEMA5A	9250320	9250320	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.574000	0.98184	2.621000	0.88768	0.603000	0.83216	TCG	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.587	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	0	0	1	2	2	2	2	0	0	0	0	183	183	183	180	1	1.890000	-2.577564	1	0.230000			0	13	13	0	571	559	0		1	0		0	0	183	0	0	0.999471	1.929940e-02	0	0	0	9	0	13	571
MRPS36	92259	broad.mit.edu	37	5	68524181	68524181	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68524181A>T	ENST00000256441.4	+	3	331	c.261A>T	c.(259-261)aaA>aaT	p.K87N	MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N|MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	87					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		ACAGAAGGAAACTTGTGTCTC	0.373																																						ENST00000256441.4	1.000000	0.740000	1	8.400000e-01	0.950000	0.930945	0.950000	1.000000																										0				7						c.(259-261)aaA>aaT		mitochondrial ribosomal protein S36							160.0	172.0	168.0					5																	68524181		2203	4300	6503	SO:0001583	missense	92259	0	0					g.chr5:68524181A>T		CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"""Mitochondrial ribosomal proteins / small subunits"""	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.261A>T	chr5.hg19:g.68524181A>T	ENSP00000256441:p.Lys87Asn	0					MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N|MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N|MRPS36_ENST00000507022.1_3'UTR	p.K87N	NM_033281.5	NP_150597.1	1	2	3	2.028763	P82909	RT36_HUMAN		3	331	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	Q9H2H4	Missense_Mutation	SNP	ENST00000256441.4	1	1	hg19	c.261A>T	CCDS34174.1	1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910653	0.52439	.	.	ENSG00000134056	ENST00000256441;ENST00000512880	.	.	.	5.76	4.59	0.56863	5.76	4.59	0.56863	.	0.054165	0.64402	D	0.000001	T	0.64994	0.2649	L	0.39898	1.24	0.44136	D	0.99692	D	0.76494	0.999	D	0.83275	0.996	T	0.65755	-0.6091	9	0.72032	D	0.01	-20.7389	8.3323	0.32193	0.8452:0.0:0.1548:0.0	.	87	P82909	RT36_HUMAN	N	87;22	.	ENSP00000256441:K87N	K	+	3	2	2	MRPS36	68559937	68559937	0.989000	0.36119	0.991000	0.47740	0.993000	0.82548	2.537000	0.45702	1.005000	0.39183	0.377000	0.23210	AAA	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.373	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	1	0	1	2	2	2	2	0	0	0	0	133	133	133	129	1	1.890000	-19.956460	1	0.230000	NM_033281		0	63	63	0	514	509	1		1	1		0	0	133	0	0	1.000000	9.999839e-01	0	28	0	102	0	63	514
MEF2C	4208	broad.mit.edu	37	5	88119587	88119587	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:88119587G>T	ENST00000437473.2	-	2	436	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000504921.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	7	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q7E(3)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTCGTAATCTGAATCTTTTTT	0.343										HNSCC(66;0.2)																												ENST00000437473.2	0.260000	0.100000	2.100000e-01	1.300000e-01	0.160000	0.179839	0.160000	0.160000																										3	Substitution - Missense(3)	p.Q7E(3)	lung(3)	40						c.(19-21)Cag>Aag		myocyte enhancer factor 2C							304.0	304.0	304.0					5																	88119587		1825	4071	5896	SO:0001583	missense	4208	0	0					g.chr5:88119587G>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.19C>A	chr5.hg19:g.88119587G>T	ENSP00000396219:p.Gln7Lys	0	HNSCC(66;0.2)				MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000504921.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K	p.Q7K	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	1	2	3	2.029192	Q06413	MEF2C_HUMAN		2	436	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	0	1	hg19	c.19C>A	CCDS47245.1	0	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262694	0.80358	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075;ENST00000509373	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.27	5.12	5.12	0.69794	5.12	5.12	0.69794	Transcription factor, MADS-box (5);	0.051449	0.85682	D	0.000000	D	0.82291	0.5005	N	0.11892	0.195	0.80722	D	1	B;D;P;D	0.89917	0.166;1.0;0.909;0.999	B;D;D;D	0.83275	0.149;0.996;0.91;0.993	D	0.86237	0.1641	10	0.87932	D	0	-0.0224	18.9236	0.92536	0.0:0.0:1.0:0.0	.	7;7;7;7	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	K	7	ENSP00000340874:Q7K;ENSP00000389610:Q7K;ENSP00000421925:Q7K;ENSP00000426665:Q7K;ENSP00000396219:Q7K;ENSP00000422390:Q7K;ENSP00000425636:Q7K;ENSP00000423597:Q7K;ENSP00000424606:Q7K;ENSP00000441153:Q7K;ENSP00000423826:Q7K;ENSP00000423656:Q7K;ENSP00000424331:Q7K;ENSP00000427163:Q7K;ENSP00000426442:Q7K;ENSP00000427286:Q7K;ENSP00000426465:Q7K;ENSP00000427309:Q7K	ENSP00000340874:Q7K	Q	-	1	0	0	MEF2C	88155343	88155343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.384000	0.97219	2.543000	0.85770	0.591000	0.81541	CAG	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.343	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	0	0	1	2	2	2	2	0	0	0	0	281	281	281	275	1	1.890000	-2.254158	0	0.230000	NM_002397		0	22	21	0	1140	1118	0		1	0		0	0	281	0	0	0.999998	1.530290e-01	0	0	0	35	0	22	1140
LYSMD3	116068	broad.mit.edu	37	5	89815139	89815139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:89815139C>A	ENST00000315948.6	-	3	562	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	140						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TCCTGTTGTTCGGAAGAGTAT	0.373																																						ENST00000315948.6	0.440000	0.150000	3.400000e-01	2.000000e-01	0.260000	0.281431	0.260000	0.260000																										0				7						c.(418-420)Gaa>Taa		LysM, putative peptidoglycan-binding, domain containing 3							124.0	116.0	119.0					5																	89815139		1856	4092	5948	SO:0001587	stop_gained	116068	0	0					g.chr5:89815139C>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.418G>T	chr5.hg19:g.89815139C>A	ENSP00000314518:p.Glu140*	0					LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L|LYSMD3_ENST00000500869.2_Intron	p.E140*	NM_198273.1	NP_938014.1	1	2	3	2.029192	Q7Z3D4	LYSM3_HUMAN		3	562	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	Q5H9U0|Q6PEK0|Q9NTE9	Nonsense_Mutation	SNP	ENST00000315948.6	0	1	hg19	c.418G>T	CCDS43338.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.42|16.42	3.119638|3.119638	0.56613|0.56613	.|.	.|.	ENSG00000176018;ENSG00000259141|ENSG00000176018	ENST00000315948;ENST00000554351|ENST00000509384	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.400265|.	0.29537|.	N|.	0.011876|.	.|T	.|0.75939	.|0.3918	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.54706	.|0.759	.|T	.|0.78585	.|-0.2147	.|7	0.14656|0.87932	T|D	0.56|0	-10.0408|-10.0408	19.8807|19.8807	0.96899|0.96899	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|120	.|Q7Z3D4-2	.|.	X|L	140|120	.|.	ENSP00000314518:E140X|ENSP00000427683:R120L	E|R	-|-	1|2	0|0	0|0	AC027323.1;LYSMD3|LYSMD3	89850895|89850895	89850895|89850895	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.226000|0.226000	0.24999|0.24999	6.891000|6.891000	0.75639|0.75639	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	GAA|CGA	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.373	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	0	0	1	2	2	2	2	0	0	0	0	128	128	128	127	1	1.890000	-2.649822	1	0.230000	XM_371760		0	15	12	0	488	482	0		1	0		0	0	128	0	0	0.999854	1.327429e-01	0	0	0	20	0	15	488
RUFY1	80230	broad.mit.edu	37	5	179016622	179016622	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:179016622C>A	ENST00000319449.4	+	9	1114	c.1102C>A	c.(1102-1104)Cga>Aga	p.R368R	RUFY1_ENST00000437570.2_Silent_p.R260R|RUFY1_ENST00000393438.2_Silent_p.R260R|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	368					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAATTAATTCGAGAAAGAAG	0.388										HNSCC(44;0.11)																												ENST00000319449.4	0.480000	0.170000	3.800000e-01	2.200000e-01	0.290000	0.311463	0.290000	0.290000																										0				26						c.(1102-1104)Cga>Aga		RUN and FYVE domain containing 1							103.0	101.0	102.0					5																	179016622		2203	4300	6503	SO:0001819	synonymous_variant	80230	0	0					g.chr5:179016622C>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1102C>A	chr5.hg19:g.179016622C>A		0	HNSCC(44;0.11)				RUFY1_ENST00000393438.2_Silent_p.R260R|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Silent_p.R260R	p.R368R	NM_025158.4	NP_079434.3	1	2	3	2.029192	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	9	1114	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Q59FF3|Q71S93|Q9H6I3	Silent	SNP	ENST00000319449.4	1	0	hg19	c.1102C>A	CCDS4445.2	0	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321386	0.23994	.	.	ENSG00000176783	ENST00000508609	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	.	.	.	.	T	0.75384	0.3842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73597	-0.3932	4	.	.	.	-12.448	19.3849	0.94553	0.0:1.0:0.0:0.0	.	.	.	.	L	156	.	.	F	+	3	2	2	RUFY1	178949228	178949228	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	4.156000	0.58138	2.581000	0.87130	0.549000	0.68633	TTC	0.231767		TCGA-HZ-A77Q-01A-11D-A36O-08	0.388	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	1	0	1	2	2	2	2	0	0	0	0	94	94	94	94	1	1.890000	-2.706646	1	0.230000	NM_001040451		0	16	16	0	465	459	0		1	0		0	0	94	0	0	0.999927	8.331932e-01	0	0	0	97	0	16	465
MCM9	254394	broad.mit.edu	37	6	119238766	119238766	+	Missense_Mutation	SNP	G	G	T	rs564191556		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:119238766G>T	ENST00000316316.6	-	5	1150	c.864C>A	c.(862-864)ttC>ttA	p.F288L	MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	288					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AAAAATCTTCGAATTCCTTTT	0.378																																						ENST00000316316.6	0.230000	0.070000	1.900000e-01	1.000000e-01	0.130000	0.146949	0.130000	0.140000																										0				18						c.(862-864)ttC>ttA		minichromosome maintenance complex component 9							118.0	111.0	113.0					6																	119238766		2203	4300	6503	SO:0001583	missense	254394	0	0					g.chr6:119238766G>T	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.864C>A	chr6.hg19:g.119238766G>T	ENSP00000314505:p.Phe288Leu	1					MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	p.F288L	NM_017696.2	NP_060166.2	0	1	1	1.784241	Q9NXL9	MCM9_HUMAN		5	1150	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	0	1	hg19	c.864C>A	CCDS56447.1	0	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454336	0.84209	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.06142	3.73;3.34	5.81	4.65	0.58169	5.81	4.65	0.58169	.	.	.	.	.	T	0.16085	0.0387	M	0.87682	2.9	0.52099	D	0.999949	D	0.89917	1.0	D	0.70016	0.967	T	0.02098	-1.1214	9	0.36615	T	0.2	.	11.7956	0.52098	0.9314:0.0:0.0686:0.0	.	288	Q9NXL9-2	.	L	288	ENSP00000314505:F288L;ENSP00000312870:F288L	ENSP00000312870:F288L	F	-	3	2	2	MCM9	119280465	119280465	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.102000	0.57776	1.044000	0.40200	-0.251000	0.11542	TTC	0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.378	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	0	0	1	2	2	2	2	0	0	0	0	179	179	179	179	1	1.890000	-2.430632	0	0.230000	NM_153255		0	12	14	0	660	654	0		1	0		0	0	179	0	0	0.999064	3.782048e-03	0	0	0	5	0	12	660
BTN1A1	696	broad.mit.edu	37	6	26501880	26501880	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:26501880C>T	ENST00000244513.6	+	2	208	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	48	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGACGCCGAGCTGCCCTGTCG	0.647																																						ENST00000244513.6	0.640000	0.220000	5.200000e-01	3.000000e-01	0.400000	0.421394	0.400000	0.400000																										0				26						c.(142-144)Ctg>Ttg		butyrophilin, subfamily 1, member A1							36.0	37.0	37.0					6																	26501880		2199	4288	6487	SO:0001819	synonymous_variant	696	0	0					g.chr6:26501880C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.142C>T	chr6.hg19:g.26501880C>T		0						p.L48L	NM_001732.2	NP_001723.2	0	0	0	1.909098	Q13410	BT1A1_HUMAN		2	208	+			Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	1	1	hg19	c.142C>T	CCDS4614.1	0																																																																																								0.181025		TCGA-HZ-A77Q-01A-11D-A36O-08	0.647	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	1	0	1	2	2	2	2	0	0	0	0	78	78	78	78	1	1.890000	-15.018640	1	0.230000	NM_001732		0	13	13	0	252	249	0		1			0	0	78	0	0	0.999536	0	0	0	0	0	0	13	252
ZBED9	114821	broad.mit.edu	37	6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338																																						ENST00000452236.2	0.240000	0.060000	1.900000e-01	9.000000e-02	0.130000	0.144812	0.130000	0.130000																										0				71						c.(1117-1119)tCa>tAa									114.0	117.0	116.0					6																	28543364		2203	4300	6503	SO:0001587	stop_gained	0	0	0					g.chr6:28543364G>T																												ENST00000452236.2:c.1118C>A	chr6.hg19:g.28543364G>T	ENSP00000395259:p.Ser373*	0					SCAND3_ENST00000530247.1_5'Flank	p.S373*	NM_052923.1	NP_443155.1	0	0	0	1.909098				3	1735	-				Nonsense_Mutation	SNP	ENST00000452236.2	0	1	hg19	c.1118C>A	CCDS34355.1	0	.	.	.	.	.	.	.	.	.	.	G	41	8.759941	0.98943	.	.	ENSG00000232040	ENST00000452236	.	.	.	3.45	3.45	0.39498	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6309	0.45536	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000395259:S373X	S	-	2	0	0	SCAND3	28651343	28651343	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	2.230000	0.42999	1.935000	0.56089	0.655000	0.94253	TCA	0.181025		TCGA-HZ-A77Q-01A-11D-A36O-08	0.338	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	0	0	1	2	15	2	2	1	1	1	1	137	137	137	136	1	1.890000	-2.782501	1	0.230000			0	9	9	0	549	543	0		0			1	0	137	0	0	0.143848	0	0	0	0	0	0	9	549
C6orf136	221545	broad.mit.edu	37	6	30619054	30619054	+	Missense_Mutation	SNP	G	G	T	rs554711801		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:30619054G>T	ENST00000376473.5	+	4	734	c.575G>T	c.(574-576)tGg>tTg	p.W192L	C6orf136_ENST00000293604.6_Missense_Mutation_p.W373L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L|C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L|AL662800.2_ENST00000583820.1_RNA	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	192						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCCGGACATGGTACATTCTT	0.493																																						ENST00000376473.5	0.130000	0.040000	1.100000e-01	6.000000e-02	0.080000	0.087881	0.080000	0.080000																										0				10						c.(574-576)tGg>tTg		chromosome 6 open reading frame 136							254.0	255.0	255.0					6																	30619054		2203	4300	6503	SO:0001583	missense	221545	0	0					g.chr6:30619054G>T	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.575G>T	chr6.hg19:g.30619054G>T	ENSP00000365656:p.Trp192Leu	1					C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L|C6orf136_ENST00000293604.6_Missense_Mutation_p.W373L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L|AL662800.2_ENST00000583820.1_RNA	p.W192L	NM_001109938.2	NP_001103408.1	0	1	1	1.889021	Q5SQH8	CF136_HUMAN		4	734	+			A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	0	1	hg19	c.575G>T	CCDS43443.1	0	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207852	0.22205	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801	.	.	.	4.72	0.6	0.17524	4.72	0.6	0.17524	.	0.571491	0.18568	N	0.137403	T	0.07143	0.0181	N	0.08118	0	0.25418	N	0.9883	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.41466	-0.9507	9	0.11485	T	0.65	-1.7055	13.3791	0.60757	0.0:0.0:0.2885:0.7115	.	58;373;192	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	L	373;192;58;310;49;14;5	.	ENSP00000293604:W373L	W	+	2	0	0	C6orf136	30727033	30727033	0.987000	0.35691	0.981000	0.43875	0.980000	0.70556	0.475000	0.22164	-0.006000	0.14370	-0.152000	0.13540	TGG	0.167792		TCGA-HZ-A77Q-01A-11D-A36O-08	0.493	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	0	0	1	2	12	2	2	1	1	1	1	572	572	572	568	1	1.890000	-1.929629	0	0.230000	NM_145029		0	17	17	0	1624	1600	0		1	0		1	0	572	0	0	0.859159	1.695416e-02	0	0	0	18	0	17	1624
TNXB	7148	broad.mit.edu	37	6	32046907	32046907	+	Silent	SNP	G	G	T	rs375254727		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:32046907G>T	ENST00000375244.3	-	11	4479	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	TNXB_ENST00000375247.2_Silent_p.T1426T|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1513	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCTCCCACGGTGACCTCAC	0.687																																						ENST00000375244.3	0.300000	0.080000	2.400000e-01	1.200000e-01	0.170000	0.187496	0.170000	0.170000																										0				8						c.(4276-4278)acC>acA		tenascin XB							84.0	97.0	93.0					6																	32046907		1309	2566	3875	SO:0001819	synonymous_variant	7148	0	0					g.chr6:32046907G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4278C>A	chr6.hg19:g.32046907G>T		1					TNXB_ENST00000375247.2_Silent_p.T1426T|RNA5SP206_ENST00000516703.1_RNA	p.T1426T			0	1	1	1.889021	P22105	TENX_HUMAN		11	4479	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	0	1	hg19	c.4278C>A		0																																																																																								0.167792		TCGA-HZ-A77Q-01A-11D-A36O-08	0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	0	0	1	2	2	2	2	0	0	0	0	155	155	155	152	1	1.890000	-2.173676	0	0.230000	NM_019105		0	10	8	0	455	449	0		1	0		0	0	155	0	0	0.996665	4.985729e-02	0	0	0	15	0	10	455
GRM4	2914	broad.mit.edu	37	6	34003600	34003600	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:34003600G>A	ENST00000538487.2	-	9	2730	c.2287C>T	c.(2287-2289)Ctc>Ttc	p.L763F	GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000544773.2_Missense_Mutation_p.L594F|GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000374181.4_Missense_Mutation_p.L763F|GRM4_ENST00000609222.1_Missense_Mutation_p.L630F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.L623F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	763					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTGACCATGAGCAGCATGCTG	0.602																																						ENST00000538487.2	1.000000	0.500000	9.900000e-01	6.400000e-01	0.800000	0.807186	0.800000	1.000000																										0				48						c.(2287-2289)Ctc>Ttc		glutamate receptor, metabotropic 4							116.0	87.0	96.0					6																	34003600		2203	4300	6503	SO:0001583	missense	2914	0	0					g.chr6:34003600G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2287C>T	chr6.hg19:g.34003600G>A	ENSP00000440556:p.Leu763Phe	1					GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000609222.1_Missense_Mutation_p.L630F|GRM4_ENST00000544773.2_Missense_Mutation_p.L594F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.L763F|GRM4_ENST00000455714.2_Missense_Mutation_p.L623F	p.L763F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	0	0	0	1.894629	Q14833	GRM4_HUMAN		9	2730	-			B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	1	1	hg19	c.2287C>T	CCDS4787.1	0	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976898	0.74360	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	4.47	3.6	0.41247	4.47	3.6	0.41247	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;1.0	D;D;D;D;D	0.85130	0.989;0.997;0.997;0.959;0.993	D	0.99174	1.0865	10	0.87932	D	0	.	12.6781	0.56906	0.0805:0.0:0.9195:0.0	.	716;594;623;763;630	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	F	763;647;455;630;594;763;623	ENSP00000363296:L763F;ENSP00000363292:L647F;ENSP00000445533:L455F;ENSP00000437925:L630F;ENSP00000437730:L594F;ENSP00000440556:L763F;ENSP00000398456:L623F	ENSP00000363292:L647F	L	-	1	0	0	GRM4	34111578	34111578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.728000	0.84847	1.087000	0.41251	0.455000	0.32223	CTC	0.174971		TCGA-HZ-A77Q-01A-11D-A36O-08	0.602	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2	1	0	1	2	2	2	2	0	0	0	0	64	64	64	63	1	1.890000	-20.000000	1	0.230000			0	18	18	0	162	159	1		1			0	0	64	0	0	0.999984	0	0	0	0	0	0	18	162
PHF3	23469	broad.mit.edu	37	6	64390021	64390021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:64390021C>A	ENST00000262043.3	+	3	705	c.365C>A	c.(364-366)tCa>tAa	p.S122*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122*			Q92576	PHF3_HUMAN	PHD finger protein 3	122					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGAAAATTCAGTGAGATCT	0.383																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3	0.380000	0.130000	3.100000e-01	1.800000e-01	0.240000	0.252250	0.240000	0.240000																										0				75						c.(364-366)tCa>tAa		PHD finger protein 3							152.0	150.0	151.0					6																	64390021		2203	4300	6503	SO:0001587	stop_gained	23469	0	0					g.chr6:64390021C>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.365C>A	chr6.hg19:g.64390021C>A	ENSP00000262043:p.Ser122*	1					PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122*	p.S122*			0	0	0	1.894629	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)	3	705	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	0	1	hg19	c.365C>A	CCDS4966.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.065655	0.97251	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.32608	N	0.005877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.529	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	34;122;75;122;122;52	.	ENSP00000262043:S122X	S	+	2	0	0	PHF3	64447980	64447980	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.034000	0.57289	2.838000	0.97847	0.591000	0.81541	TCA	0.174971		TCGA-HZ-A77Q-01A-11D-A36O-08	0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	0	0	1	2	2	2	2	0	0	0	0	126	126	126	124	1	1.890000	-2.766770	1	0.230000			0	15	15	0	493	482	0		1	0		0	0	126	0	0	0.999852	1.005594e-01	0	0	0	17	0	15	493
KCNQ5	56479	broad.mit.edu	37	6	73713655	73713655	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:73713655G>T	ENST00000370398.1	+	2	532	c.423G>T	c.(421-423)ttG>ttT	p.L141F	KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	141					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTGGTTGCTTGATTTTGTCAG	0.363																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000370398.1	0.290000	0.070000	2.200000e-01	1.100000e-01	0.150000	0.171081	0.150000	0.150000																										0				57						c.(421-423)ttG>ttT		potassium voltage-gated channel, KQT-like subfamily, member 5	Ezogabine(DB04953)						211.0	172.0	185.0					6																	73713655		2203	4300	6503	SO:0001583	missense	56479	0	0					g.chr6:73713655G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.423G>T	chr6.hg19:g.73713655G>T	ENSP00000359425:p.Leu141Phe	1					KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F	p.L141F	NM_019842.3	NP_062816.2	0	1	1	1.784241	Q9NR82	KCNQ5_HUMAN		2	532	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	0	1	hg19	c.423G>T	CCDS4976.1	0	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237974	0.79800	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	D	0.98563	0.9520	M	0.73962	2.25	0.50813	D	0.999893	P;D;D;D;D;D	0.89917	0.86;1.0;0.989;0.994;1.0;1.0	P;D;P;D;D;D	0.85130	0.743;0.997;0.824;0.915;0.993;0.994	D	0.99264	1.0891	10	0.62326	D	0.03	.	18.7003	0.91618	0.0:0.0:1.0:0.0	.	141;141;141;141;141;141	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	F	141	ENSP00000345055:L141F;ENSP00000347326:L141F;ENSP00000359425:L141F;ENSP00000359419:L141F;ENSP00000385501:L141F;ENSP00000347853:L141F;ENSP00000384453:L141F;ENSP00000409861:L141F	ENSP00000345055:L141F	L	+	3	2	2	KCNQ5	73770376	73770376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.835000	0.75344	2.769000	0.95229	0.655000	0.94253	TTG	0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.363	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	0	0	1	2	2	2	2	0	0	0	0	99	99	99	99	1	1.890000	-3.091924	1	0.230000	NM_019842		0	8	8	0	388	383	0		1			0	0	99	0	0	0.988976	0	0	0	0	0	0	8	388
SENP6	26054	broad.mit.edu	37	6	76425185	76425185	+	Silent	SNP	C	C	A	rs184895201		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:76425185C>A	ENST00000447266.2	+	24	3692	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R|SENP6_ENST00000370014.3_Silent_p.R1072R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1072	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAAGAAATCCGAAACATAAT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000447266.2	0.260000	0.070000	2.000000e-01	1.000000e-01	0.140000	0.157754	0.140000	0.140000																										0				27						c.(3214-3216)Cga>Aga		SUMO1/sentrin specific peptidase 6							125.0	118.0	120.0					6																	76425185		1842	4091	5933	SO:0001819	synonymous_variant	26054	1	120806	35				g.chr6:76425185C>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3214C>A	chr6.hg19:g.76425185C>A		1					SENP6_ENST00000370014.3_Silent_p.R1072R|SENP6_ENST00000370010.2_Silent_p.R1065R|SENP6_ENST00000541192.1_3'UTR	p.R1072R	NM_015571.2	NP_056386.2	0	1	1	1.784241	Q9GZR1	SENP6_HUMAN		24	3692	+		all_hematologic(105;0.189)	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	0	1	hg19	c.3214C>A	CCDS47454.1	0																																																																																								0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.368	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	0	0	1	2	2	2	2	0	0	0	0	129	129	129	126	1	1.890000	-2.259833	0	0.230000	NM_015571		0	9	8	0	470	462	0		1	0		0	0	129	0	0	0.993792	6.157247e-01	0	0	0	104	0	9	470
TTK	7272	broad.mit.edu	37	6	80718204	80718204	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:80718204C>A	ENST00000369798.2	+	4	575	c.464C>A	c.(463-465)tCa>tAa	p.S155*	TTK_ENST00000509894.1_Nonsense_Mutation_p.S155*|TTK_ENST00000230510.3_Nonsense_Mutation_p.S155*	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	155					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTGAACTGTCACAAGGTAAT	0.303																																						ENST00000369798.2	0.300000	0.080000	2.300000e-01	1.200000e-01	0.170000	0.181571	0.170000	0.160000																										0				53						c.(463-465)tCa>tAa		TTK protein kinase							60.0	53.0	55.0					6																	80718204		2203	4298	6501	SO:0001587	stop_gained	7272	0	0					g.chr6:80718204C>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.464C>A	chr6.hg19:g.80718204C>A	ENSP00000358813:p.Ser155*	1					TTK_ENST00000509894.1_Nonsense_Mutation_p.S155*|TTK_ENST00000230510.3_Nonsense_Mutation_p.S155*	p.S155*	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	0	1	1	1.784241	P33981	TTK_HUMAN		4	575	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Nonsense_Mutation	SNP	ENST00000369798.2	0	1	hg19	c.464C>A	CCDS4993.1	0	.	.	.	.	.	.	.	.	.	.	C	43	10.343241	0.99387	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000504040	.	.	.	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.060757	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000230510:S155X	S	+	2	0	0	TTK	80774923	80774923	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.998000	0.63927	2.937000	0.99478	0.650000	0.86243	TCA	0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.303	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2	0	0	1	2	2	2	2	0	0	0	0	105	105	105	104	1	1.890000	-3.415102	1	0.230000			0	9	9	0	406	400	0		1	0		0	0	105	0	0	0.993942	1.857075e-03	0	0	0	3	0	9	406
PPIL4	85313	broad.mit.edu	37	6	149842225	149842225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:149842225G>T	ENST00000253329.2	-	10	985	c.953C>A	c.(952-954)tCg>tAg	p.S318*		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	318	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CTTTGCAACCGACTGGCTAAA	0.333																																						ENST00000253329.2	0.220000	0.050000	1.700000e-01	8.000000e-02	0.120000	0.133647	0.120000	0.120000																										0				13						c.(952-954)tCg>tAg		peptidylprolyl isomerase (cyclophilin)-like 4							177.0	179.0	178.0					6																	149842225		2202	4299	6501	SO:0001587	stop_gained	85313	0	0					g.chr6:149842225G>T		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.953C>A	chr6.hg19:g.149842225G>T	ENSP00000253329:p.Ser318*	1						p.S318*	NM_139126.3	NP_624311.1	0	1	1	1.784241	Q8WUA2	PPIL4_HUMAN		10	985	-		Ovarian(120;0.0164)	B2RD34|Q7Z3Q5	Nonsense_Mutation	SNP	ENST00000253329.2	0	1	hg19	c.953C>A	CCDS34550.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.846120	0.97016	.	.	ENSG00000131013	ENST00000253329	.	.	.	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.049439	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.442	0.94824	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000253329:S318X	S	-	2	0	0	PPIL4	149883918	149883918	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.314000	0.96306	2.597000	0.87782	0.555000	0.69702	TCG	0.129944		TCGA-HZ-A77Q-01A-11D-A36O-08	0.333	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1	0	0	1	2	2	2	2	0	0	0	0	130	130	130	129	1	1.890000	-2.267484	0	0.230000			0	9	9	0	558	542	0		1	0		0	0	130	0	0	0.993484	3.019551e-01	0	0	0	63	0	9	558
ASB15	142685	broad.mit.edu	37	7	123269090	123269090	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:123269090G>A	ENST00000451558.1	+	12	1563	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	ASB15_ENST00000451215.1_Missense_Mutation_p.D348N|ASB15_ENST00000434204.1_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N|ASB15_ENST00000275699.3_Missense_Mutation_p.D348N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAGCTATGACGATGAGAGGAA	0.453																																						ENST00000451558.1	1.000000	0.820000	1	9.200000e-01	0.990000	0.974650	0.990000	1.000000																										0				12						c.(1042-1044)Gat>Aat		ankyrin repeat and SOCS box containing 15							178.0	161.0	167.0					7																	123269090		2203	4300	6503	SO:0001583	missense	142685	2	121412	35				g.chr7:123269090G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1042G>A	chr7.hg19:g.123269090G>A	ENSP00000397655:p.Asp348Asn	0					ASB15_ENST00000275699.3_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N|ASB15_ENST00000434204.1_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N	p.D348N			0	1	1	2.015375	Q8WXK1	ASB15_HUMAN		12	1563	+			Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	1	1	hg19	c.1042G>A	CCDS34742.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.286594	0.95517	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	6.17	6.17	0.99709	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	N	0.11789	0.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12477	-1.0546	10	0.26408	T	0.33	-59.0637	20.8794	0.99867	0.0:0.0:1.0:0.0	.	348	Q8WXK1	ASB15_HUMAN	N	348;348;348;348;137;348	ENSP00000397655:D348N;ENSP00000390963:D348N;ENSP00000416433:D348N;ENSP00000438643:D348N;ENSP00000275699:D348N	ENSP00000275699:D348N	D	+	1	0	0	ASB15	123056326	123056326	1.000000	0.71417	0.606000	0.28943	0.963000	0.63663	9.461000	0.97646	2.941000	0.99782	0.655000	0.94253	GAT	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.453	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	1	0	0	2	2	2	2	0	0	0	0	162	162	162	161	1	1.890000	-20.000000	1	0.230000			0	72	70	0	525	517	1		1			0	0	162	0	0	1.000000	0	0	0	0	0	0	72	525
MKLN1	4289	broad.mit.edu	37	7	131148090	131148090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:131148090C>A	ENST00000352689.6	+	13	1680	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	547					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GTTAGAAATTCATTCTGGATT	0.348																																						ENST00000352689.6	0.270000	0.080000	2.200000e-01	1.100000e-01	0.160000	0.171922	0.160000	0.160000																										0				28						c.(1639-1641)tCa>tAa		muskelin 1, intracellular mediator containing kelch motifs							104.0	109.0	107.0					7																	131148090		2203	4299	6502	SO:0001587	stop_gained	4289	0	0					g.chr7:131148090C>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1640C>A	chr7.hg19:g.131148090C>A	ENSP00000323527:p.Ser547*	0					MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455*	p.S547*	NM_013255.4	NP_037387.2	0	1	1	2.015375	Q9UL63	MKLN1_HUMAN		13	1680	+	Melanoma(18;0.162)		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	ENST00000352689.6	0	1	hg19	c.1640C>A	CCDS34754.1	0	.	.	.	.	.	.	.	.	.	.	C	41	9.090263	0.99062	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	.	.	.	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3791	19.3216	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	455;547;37	.	ENSP00000323527:S547X	S	+	2	0	0	MKLN1	130798630	130798630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.818000	0.97014	0.591000	0.81541	TCA	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.348	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	0	0	1	2	2	2	2	0	0	0	0	137	137	137	134	1	1.890000	-2.944517	1	0.230000	NM_013255		0	11	11	0	587	573	0		1	0		0	0	137	0	0	0.998123	8.540197e-02	0	0	0	24	0	11	587
TAS2R4	50832	broad.mit.edu	37	7	141478656	141478656	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141478656G>T	ENST00000247881.2	+	1	415	c.368G>T	c.(367-369)cGg>cTg	p.R123L	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	123					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CTGCTGAAGCGGAATATCTCC	0.478																																						ENST00000247881.2	0.210000	0.050000	1.600000e-01	8.000000e-02	0.110000	0.125399	0.110000	0.120000																										0				7						c.(367-369)cGg>cTg		taste receptor, type 2, member 4							171.0	159.0	163.0					7																	141478656		2203	4300	6503	SO:0001583	missense	50832	0	0					g.chr7:141478656G>T	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.368G>T	chr7.hg19:g.141478656G>T	ENSP00000247881:p.Arg123Leu	0					SSBP1_ENST00000465582.1_Intron	p.R123L	NM_016944.1	NP_058640.1	0	1	1	2.015375	Q9NYW5	TA2R4_HUMAN		1	415	+	Melanoma(164;0.0171)		Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	0	1	hg19	c.368G>T	CCDS5868.1	0	.	.	.	.	.	.	.	.	.	.	g	12.56	1.974173	0.34848	.	.	ENSG00000127364	ENST00000247881	T	0.00711	5.8	5.52	4.64	0.57946	5.52	4.64	0.57946	.	0.625698	0.16289	N	0.220974	T	0.01800	0.0057	L	0.43554	1.36	0.09310	N	1	P	0.48640	0.913	P	0.56788	0.806	T	0.52533	-0.8563	10	0.41790	T	0.15	.	7.605	0.28097	0.0858:0.1661:0.7482:0.0	.	123	Q9NYW5	TA2R4_HUMAN	L	123	ENSP00000247881:R123L	ENSP00000247881:R123L	R	+	2	0	0	TAS2R4	141125125	141125125	0.003000	0.15002	0.033000	0.17914	0.290000	0.27261	0.174000	0.16743	1.575000	0.49775	0.632000	0.83419	CGG	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.478	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1	0	0	1	2	2	2	2	0	0	0	0	150	150	150	150	1	1.890000	-2.034986	0	0.230000			0	9	10	0	675	664	0		1			0	0	150	0	0	0.993816	0	0	0	0	0	0	9	675
OR9A4	130075	broad.mit.edu	37	7	141618684	141618684	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141618684G>T	ENST00000548136.1	+	1	68	c.9G>T	c.(7-9)atG>atT	p.M3I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AAATGTTGATGAATTACTCTA	0.373																																						ENST00000548136.1	0.250000	0.070000	2.000000e-01	1.000000e-01	0.140000	0.156558	0.140000	0.140000																										0				22						c.(7-9)atG>atT		olfactory receptor, family 9, subfamily A, member 4							180.0	180.0	180.0					7																	141618684		2013	4190	6203	SO:0001583	missense	130075	0	0					g.chr7:141618684G>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.9G>T	chr7.hg19:g.141618684G>T	ENSP00000448789:p.Met3Ile	0					MGAM_ENST00000497554.1_Intron	p.M3I	NM_001001656.1	NP_001001656.1	0	1	1	2.015375	Q8NGU2	OR9A4_HUMAN		1	68	+	Melanoma(164;0.0171)		B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	0	1	hg19	c.9G>T	CCDS43661.1	0	.	.	.	.	.	.	.	.	.	.	.	6.763	0.509673	0.12883	.	.	ENSG00000258083	ENST00000548136	T	0.17213	2.29	3.33	-1.9	0.07665	3.33	-1.9	0.07665	.	.	.	.	.	T	0.07413	0.0187	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	9	0.72032	D	0.01	0.4043	4.3789	0.11284	0.4061:0.3203:0.2735:0.0	.	3	Q8NGU2	OR9A4_HUMAN	I	3	ENSP00000448789:M3I	ENSP00000386148:M3I	M	+	3	0	0	OR9A4	141265153	141265153	0.000000	0.05858	0.002000	0.10522	0.749000	0.42624	-0.453000	0.06778	-0.460000	0.07003	0.637000	0.83480	ATG	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.373	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	0	0	1	2	2	2	2	0	0	0	0	150	150	150	148	1	1.890000	-2.441514	0	0.230000	NM_001001656		0	10	10	0	592	582	0		1			0	0	150	0	0	0.996646	0	0	0	0	0	0	10	592
TRPV6	55503	broad.mit.edu	37	7	142571251	142571251	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142571251C>A	ENST00000359396.3	-	13	1983	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	580					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGTGAGTGTCGCCCATCATG	0.597																																						ENST00000359396.3	0.300000	0.070000	2.300000e-01	1.100000e-01	0.160000	0.177866	0.160000	0.160000																										0				42						c.(1738-1740)Gac>Tac		transient receptor potential cation channel, subfamily V, member 6							147.0	123.0	131.0					7																	142571251		2203	4300	6503	SO:0001583	missense	55503	0	0					g.chr7:142571251C>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1738G>T	chr7.hg19:g.142571251C>A	ENSP00000352358:p.Asp580Tyr	0					RP11-114L10.2_ENST00000438839.1_RNA	p.D580Y	NM_018646.3	NP_061116	0	1	1	2.015375	Q9H1D0	TRPV6_HUMAN		13	1983	-	Melanoma(164;0.059)		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	0	1	hg19	c.1738G>T	CCDS5874.1	0	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048747	0.93740	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.92647	-3.08	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96396	0.9293	10	0.54805	T	0.06	-37.5871	18.5442	0.91040	0.0:1.0:0.0:0.0	.	580	Q9H1D0	TRPV6_HUMAN	Y	580;412	ENSP00000352358:D580Y	ENSP00000310825:D412Y	D	-	1	0	0	TRPV6	142281373	142281373	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.741000	0.84997	2.613000	0.88420	0.655000	0.94253	GAC	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	0	0	1	2	2	2	2	0	0	0	0	128	128	128	128	1	1.890000	-2.863188	1	0.230000	NM_014274		0	8	9	0	424	418	0		1	0		0	0	128	0	0	0.989000	0	0	0	0	1	0	8	424
PIP	5304	broad.mit.edu	37	7	142836647	142836647	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142836647G>T	ENST00000291009.3	+	4	393	c.353G>T	c.(352-354)cGg>cTg	p.R118L		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	118					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.R118L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GATGTTATTCGGGAATTAGGC	0.453																																						ENST00000291009.3	0.250000	0.070000	2.000000e-01	1.000000e-01	0.140000	0.157977	0.140000	0.140000																										1	Substitution - Missense(1)	p.R118L(1)	lung(1)	18						c.(352-354)cGg>cTg		prolactin-induced protein							165.0	157.0	159.0					7																	142836647		2203	4299	6502	SO:0001583	missense	5304	1	121404	36				g.chr7:142836647G>T		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.353G>T	chr7.hg19:g.142836647G>T	ENSP00000291009:p.Arg118Leu	0						p.R118L	NM_002652.2	NP_002643.1	0	1	1	2.015375	P12273	PIP_HUMAN		4	393	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	0	1	hg19	c.353G>T	CCDS34768.1	0	.	.	.	.	.	.	.	.	.	.	g	15.45	2.837901	0.50951	.	.	ENSG00000159763	ENST00000291009	T	0.14516	2.5	4.78	-4.48	0.03515	4.78	-4.48	0.03515	.	1.221410	0.05988	N	0.645521	T	0.13286	0.0322	M	0.65975	2.015	0.09310	N	1	B	0.22983	0.078	B	0.20577	0.03	T	0.34925	-0.9809	10	0.51188	T	0.08	.	3.3187	0.07043	0.5027:0.1128:0.2699:0.1146	.	118	P12273	PIP_HUMAN	L	118	ENSP00000291009:R118L	ENSP00000291009:R118L	R	+	2	0	0	PIP	142546769	142546769	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.459000	0.01000	-1.283000	0.02393	-1.746000	0.00682	CGG	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.453	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	0	0	1	2	2	2	2	0	0	0	0	219	219	219	217	1	1.890000	-1.827624	0	0.230000	NM_002652		0	12	10	0	694	674	0		1			0	0	219	0	0	0.998934	0	0	0	0	0	0	12	694
EPHA1	2041	broad.mit.edu	37	7	143092480	143092480	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:143092480C>A	ENST00000275815.3	-	12	2101	c.2015G>T	c.(2014-2016)cGa>cTa	p.R672L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	672	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGTTGCCTCTCGAAGGAAGTT	0.567											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000275815.3	0.150000	0.030000	1.200000e-01	5.000000e-02	0.080000	0.092114	0.080000	0.080000																										0				51						c.(2014-2016)cGa>cTa		EPH receptor A1							209.0	210.0	210.0					7																	143092480		2203	4300	6503	SO:0001583	missense	2041	0	0					g.chr7:143092480C>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2015G>T	chr7.hg19:g.143092480C>A	ENSP00000275815:p.Arg672Leu	0		OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1676		p.R672L	NM_005232.4	NP_005223.4	0	1	1	2.015375	P21709	EPHA1_HUMAN		12	2101	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	0	1	hg19	c.2015G>T	CCDS5884.1	0	.	.	.	.	.	.	.	.	.	.	C	33	5.234819	0.95207	.	.	ENSG00000146904	ENST00000275815	D	0.83250	-1.7	4.83	4.83	0.62350	4.83	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000091	D	0.87912	0.6297	L	0.56280	1.765	0.58432	D	0.999999	D	0.63046	0.992	P	0.59948	0.866	D	0.87806	0.2628	10	0.49607	T	0.09	.	18.4787	0.90802	0.0:1.0:0.0:0.0	.	672	P21709	EPHA1_HUMAN	L	672	ENSP00000275815:R672L	ENSP00000275815:R672L	R	-	2	0	0	EPHA1	142802602	142802602	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.820000	0.69250	2.669000	0.90835	0.655000	0.94253	CGA	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.567	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	0	0	1	2	17	2	2	0	0	0	2	314	314	314	311	1	1.890000	-2.017855	0	0.230000			0	10	11	0	1017	999	0		0	0		0	0	314	0	0	0.113181	1.019526e-02	0	0	0	14	0	10	1017
SUN1	23353	broad.mit.edu	37	7	888057	888057	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:888057G>T	ENST00000456758.2	+	9	835	c.835G>T	c.(835-837)Ggt>Tgt	p.G279C	SUN1_ENST00000452783.2_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000413514.2_5'Flank			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTAATAGGCGGTGCGTCTTT	0.358																																						ENST00000456758.2	0.200000	0.050000	1.600000e-01	8.000000e-02	0.110000	0.125061	0.110000	0.120000																										0				30						c.(835-837)Ggt>Tgt		Sad1 and UNC84 domain containing 1							244.0	248.0	246.0					7																	888057		876	1991	2867	SO:0001583	missense	23353	0	0					g.chr7:888057G>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000456758.2:c.835G>T	chr7.hg19:g.888057G>T	ENSP00000388743:p.Gly279Cys	0					SUN1_ENST00000389574.3_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000413514.2_5'Flank|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron	p.G279C			0	1	1	2.015375	O94901	SUN1_HUMAN		9	835	+			A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000456758.2	0	1	hg19	c.835G>T		0	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672109	0.67928	.	.	ENSG00000164828	ENST00000456758;ENST00000429178	T;T	0.42513	0.97;0.97	5.56	4.67	0.58626	5.56	4.67	0.58626	.	.	.	.	.	T	0.65943	0.2740	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70479	-0.4860	8	0.56958	D	0.05	.	16.0363	0.80631	0.0:0.1351:0.8649:0.0	.	221	O94901-3	.	C	279;52	ENSP00000388743:G279C;ENSP00000409909:G52C	ENSP00000409909:G52C	G	+	1	0	0	SUN1	854583	854583	1.000000	0.71417	0.996000	0.52242	0.836000	0.47400	2.856000	0.48341	1.339000	0.45563	0.650000	0.86243	GGT	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.358	SUN1-204	KNOWN	basic	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	204	204	204	202	1	1.890000	-1.668794	0	0.230000	NM_025154		0	10	10	0	745	724	0		1	0		0	0	204	0	0	0.996426	1.570294e-01	0	0	0	48	0	10	745
NEUROD6	63974	broad.mit.edu	37	7	31378601	31378601	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:31378601G>T	ENST00000297142.3	-	2	604	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	94	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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 positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTGTCTCCTGAACTTGACCC	0.498																																						ENST00000297142.3	0.250000	0.080000	2.100000e-01	1.200000e-01	0.150000	0.167176	0.150000	0.160000																										0				32						c.(280-282)ttC>ttA		neuronal differentiation 6							258.0	253.0	255.0					7																	31378601		2203	4300	6503	SO:0001583	missense	63974	0	0					g.chr7:31378601G>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.282C>A	chr7.hg19:g.31378601G>T	ENSP00000297142:p.Phe94Leu	0						p.F94L	NM_022728.2	NP_073565.2	0	1	1	2.015375	Q96NK8	NDF6_HUMAN		2	604	-			Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	0	1	hg19	c.282C>A	CCDS5434.1	0	.	.	.	.	.	.	.	.	.	.	G	1.495	-0.553653	0.03996	.	.	ENSG00000164600	ENST00000297142	D	0.94576	-3.46	5.46	5.46	0.80206	5.46	5.46	0.80206	Helix-loop-helix DNA-binding (1);	0.108239	0.64402	D	0.000011	D	0.86070	0.5845	N	0.11064	0.09	0.41174	D	0.98618	B	0.02656	0.0	B	0.01281	0.0	T	0.81263	-0.1012	10	0.06891	T	0.86	-22.1205	14.1906	0.65635	0.0:0.0:0.8505:0.1495	.	94	Q96NK8	NDF6_HUMAN	L	94	ENSP00000297142:F94L	ENSP00000297142:F94L	F	-	3	2	2	NEUROD6	31345126	31345126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.206000	0.51098	2.569000	0.86673	0.650000	0.86243	TTC	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.498	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	0	0	1	2	2	2	2	0	0	0	0	226	226	226	225	1	1.890000	-2.375076	0	0.230000	NM_022728		0	15	15	0	807	797	0		1			0	0	226	0	0	0.999856	0	0	0	0	0	0	15	807
STARD3NL	83930	broad.mit.edu	37	7	38247300	38247300	+	Missense_Mutation	SNP	C	C	A	rs553968130	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38247300C>A	ENST00000009041.7	+	2	452	c.195C>A	c.(193-195)ttC>ttA	p.F65L	STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	65	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ACCTCTTATTCGTAACATTAC	0.373																																						ENST00000009041.7	0.440000	0.130000	3.500000e-01	1.800000e-01	0.250000	0.272905	0.250000	0.250000																										0				10						c.(193-195)ttC>ttA		STARD3 N-terminal like							145.0	130.0	135.0					7																	38247300		2203	4300	6503	SO:0001583	missense	83930	0	0					g.chr7:38247300C>A	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.195C>A	chr7.hg19:g.38247300C>A	ENSP00000009041:p.Phe65Leu	0					STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L	p.F65L	NM_032016.3	NP_114405.1	0	1	1	2.015375	O95772	MENTO_HUMAN		2	452	+			A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	0	1	hg19	c.195C>A	CCDS5455.1	0	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253884	0.80135	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	6.17	5.02	0.67125	6.17	5.02	0.67125	MENTAL domain (2);	0.042989	0.85682	D	0.000000	T	0.61148	0.2324	L	0.53617	1.68	0.50813	D	0.999893	D;D	0.89917	1.0;0.98	D;P	0.97110	1.0;0.904	T	0.57888	-0.7733	10	0.45353	T	0.12	-8.6394	9.8732	0.41187	0.0:0.1389:0.0:0.8611	.	65;65	C9JKL2;O95772	.;MENTO_HUMAN	L	65;58;65;65;65;65;65	ENSP00000009041:F65L;ENSP00000439436:F58L;ENSP00000394000:F65L;ENSP00000379334:F65L;ENSP00000411933:F65L;ENSP00000395455:F65L;ENSP00000402028:F65L	ENSP00000009041:F65L	F	+	3	2	2	STARD3NL	38213825	38213825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.598000	0.36740	0.576000	0.29452	-0.254000	0.11334	TTC	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.373	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2	0	0	1	2	2	2	2	0	0	0	0	75	75	75	75	1	1.890000	-2.900063	1	0.230000			0	10	8	0	333	330	0		1	0		0	0	75	0	0	0.996755	6.433325e-01	0	0	0	72	0	10	333
IKZF1	10320	broad.mit.edu	37	7	50455075	50455075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:50455075C>T	ENST00000331340.3	+	6	777	c.622C>T	c.(622-624)Cga>Tga	p.R208*	IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	208					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ATATTGTGGCCGAAGCTATAA	0.473			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3	1.000000	0.720000	1	9.100000e-01	0.990000	0.967989	0.990000	1.000000				"""Rec,Dom"""	yes			Rec,Dom	yes		7	7p12.2	7p12.2	10320	D,T	IKAROS family zinc finger 1				L	L	BCL6		ALL, DLBCL		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	276						c.(622-624)Cga>Tga		IKAROS family zinc finger 1 (Ikaros)							55.0	55.0	55.0					7																	50455075		1865	4095	5960	SO:0001587	stop_gained	10320	0	0					g.chr7:50455075C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.622C>T	chr7.hg19:g.50455075C>T	ENSP00000331614:p.Arg208*	0					IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Intron	p.R208*	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	0	1	1	2.015375	Q13422	IKZF1_HUMAN		6	777	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Nonsense_Mutation	SNP	ENST00000331340.3	0	1	hg19	c.622C>T		1	.	.	.	.	.	.	.	.	.	.	C	39	7.427115	0.98279	.	.	ENSG00000185811	ENST00000343574;ENST00000331340;ENST00000438033	.	.	.	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6208	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	121;208;121	.	ENSP00000331614:R208X	R	+	1	2	2	IKZF1	50422569	50422569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	CGA	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.473	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	1	0	1	2	2	2	2	0	0	0	0	28	28	28	28	1	1.890000	-11.149870	1	0.230000	NM_006060		0	19	19	0	124	123	1		1	0		0	0	28	0	0	0.999994	9.549214e-02	0	0	0	4	0	19	124
OCM2	4951	broad.mit.edu	37	7	97617777	97617777	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:97617777G>T	ENST00000257627.4	-	2	236	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	49	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507																																						ENST00000257627.4	0.300000	0.080000	2.400000e-01	1.200000e-01	0.170000	0.185941	0.170000	0.170000																										0				4						c.(145-147)Cgg>Agg		oncomodulin 2							173.0	149.0	157.0					7																	97617777		2203	4300	6503	SO:0001819	synonymous_variant	4951	0	0					g.chr7:97617777G>T	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.145C>A	chr7.hg19:g.97617777G>T		0					OCM2_ENST00000473987.2_5'UTR	p.R49R	NM_006188.3	NP_006179.2	0	1	1	2.015375	P0CE71	OCM2_HUMAN		2	236	-			P32930|Q6ISI5|Q75MW0	Silent	SNP	ENST00000257627.4	0	1	hg19	c.145C>A	CCDS5653.1	0																																																																																								0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.507	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	0	0	1	2	2	2	2	0	0	0	0	127	127	127	125	1	1.890000	-2.150713	0	0.230000	NM_006188		0	10	9	0	496	491	0		1			0	0	127	0	0	0.996713	0	0	0	0	0	0	10	496
CHPF2	54480	broad.mit.edu	37	7	150934530	150934530	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:150934530C>T	ENST00000035307.2	+	4	2595	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	361					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)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTGGGCTCCCTGCTCCTTTC	0.617																																						ENST00000035307.2	1.000000	0.630000	1	7.500000e-01	0.880000	0.875491	0.880000	1.000000																										0				17						c.(1081-1083)cCt>cTt		chondroitin polymerizing factor 2							73.0	72.0	72.0					7																	150934530		2203	4300	6503	SO:0001583	missense	54480	0	0					g.chr7:150934530C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1082C>T	chr7.hg19:g.150934530C>T	ENSP00000035307:p.Pro361Leu	0					RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L|MIR671_ENST00000390183.1_RNA	p.P361L	NM_019015.1	NP_061888.1	0	1	1	2.015375	Q9P2E5	CHPF2_HUMAN		4	2595	+			B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	1	1	hg19	c.1082C>T	CCDS34779.1	1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548837	0.65311	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.16597	2.33;2.33	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.090906	0.64402	D	0.000001	T	0.20577	0.0495	L	0.39898	1.24	0.80722	D	1	P;P	0.47034	0.889;0.879	P;P	0.48677	0.534;0.586	T	0.00728	-1.1591	10	0.29301	T	0.29	-29.2158	12.3421	0.55099	0.266:0.734:0.0:0.0	.	361;353	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	L	353;361;361	ENSP00000418914:P353L;ENSP00000035307:P361L	ENSP00000035307:P361L	P	+	2	0	0	CHPF2	150565463	150565463	0.997000	0.39634	0.951000	0.38953	0.715000	0.41141	3.589000	0.53972	2.652000	0.90054	0.655000	0.94253	CCT	0.225547		TCGA-HZ-A77Q-01A-11D-A36O-08	0.617	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	1	0	1	2	2	2	2	0	0	0	0	94	94	94	93	1	1.890000	-2.690405	1	0.230000	NM_019015		0	36	36	0	316	314	1		1	1		0	0	94	0	0	1.000000	9.998730e-01	0	18	0	101	0	36	316
VPS13B	157680	broad.mit.edu	37	8	100123331	100123331	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:100123331G>T	ENST00000358544.2	+	6	697	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	VPS13B_ENST00000395996.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	196					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTAGCAACTGATTTGGTGCT	0.274																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2	0.460000	0.130000	3.700000e-01	1.900000e-01	0.270000	0.285361	0.270000	0.260000																										0				193						c.(586-588)Gat>Tat		vacuolar protein sorting 13 homolog B (yeast)							57.0	60.0	59.0					8																	100123331		2193	4298	6491	SO:0001583	missense	157680	0	0					g.chr8:100123331G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.586G>T	chr8.hg19:g.100123331G>T	ENSP00000351346:p.Asp196Tyr	0					VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000395996.1_Missense_Mutation_p.D196Y	p.D196Y	NM_017890.4	NP_060360.3	0	1	1	2.020490	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)	6	697	+	Breast(36;3.73e-07)		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	0	1	hg19	c.586G>T	CCDS6280.1	0	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352102	0.82132	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.83506	-1.16;-0.45;-0.45;-0.16;-1.73	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.058121	0.64402	D	0.000004	D	0.89196	0.6646	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.999;0.993;0.999;0.98	D;D;D;D;P	0.68039	0.939;0.915;0.911;0.955;0.804	D	0.90092	0.4178	10	0.87932	D	0	.	18.9995	0.92828	0.0:0.0:1.0:0.0	.	196;196;196;196;196	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Y	196	ENSP00000347281:D196Y;ENSP00000349685:D196Y;ENSP00000351346:D196Y;ENSP00000379318:D196Y;ENSP00000398472:D196Y	ENSP00000347281:D196Y	D	+	1	0	0	VPS13B	100192507	100192507	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.588000	0.98232	2.479000	0.83701	0.555000	0.69702	GAT	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.274	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	0	0	1	2	2	2	2	0	0	0	0	90	90	90	88	1	1.890000	-10.410670	1	0.230000	NM_184042		0	10	10	0	319	315	0		1	0		0	0	90	0	0	0.996802	1.201179e-03	0	0	0	2	0	10	319
RNF19A	25897	broad.mit.edu	37	8	101276930	101276930	+	Silent	SNP	G	G	T	rs202024866		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:101276930G>T	ENST00000519449.1	-	7	1591	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Silent_p.I425I	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	425					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTGGAGACACGATTACAGACA	0.363																																						ENST00000519449.1	0.270000	0.070000	2.200000e-01	1.100000e-01	0.150000	0.168785	0.150000	0.160000																										0				30						c.(1273-1275)atC>atA		ring finger protein 19A, RBR E3 ubiquitin protein ligase							218.0	192.0	201.0					8																	101276930		2203	4300	6503	SO:0001819	synonymous_variant	25897	0	0					g.chr8:101276930G>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1275C>A	chr8.hg19:g.101276930G>T		0					RNF19A_ENST00000341084.2_Silent_p.I425I|RNF19A_ENST00000523255.1_5'UTR	p.I425I	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	0	1	1	2.020490	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	7	1591	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	0	1	hg19	c.1275C>A	CCDS6286.1	0																																																																																								0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.363	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	0	0	1	2	2	2	2	0	0	0	0	136	136	136	135	1	1.890000	-2.235855	0	0.230000	NM_015435		0	10	9	0	550	544	0		1	0		0	0	136	0	0	0.996723	4.714327e-01	0	0	0	83	0	10	550
EBAG9	9166	broad.mit.edu	37	8	110576764	110576764	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:110576764C>A	ENST00000337573.5	+	7	918	c.618C>A	c.(616-618)aaC>aaA	p.N206K	EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K|EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	206					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AGGAACAAAACAAAATTGGTG	0.388																																						ENST00000337573.5	1.000000	0.730000	1	8.500000e-01	0.990000	0.944969	0.990000	1.000000																										0				10						c.(616-618)aaC>aaA		estrogen receptor binding site associated, antigen, 9							135.0	135.0	135.0					8																	110576764		2203	4300	6503	SO:0001583	missense	9166	0	0					g.chr8:110576764C>A	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.618C>A	chr8.hg19:g.110576764C>A	ENSP00000337675:p.Asn206Lys	0					EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K|EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K	p.N206K	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	0	1	1	2.020490	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)	7	918	+			A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	1	1	hg19	c.618C>A	CCDS6313.1	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926951	0.52759	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000531677	.	.	.	5.52	1.68	0.24146	5.52	1.68	0.24146	.	0.215116	0.40728	N	0.001032	T	0.32071	0.0817	N	0.19112	0.55	0.42409	D	0.992594	B	0.33238	0.403	B	0.22601	0.04	T	0.05971	-1.0853	9	0.31617	T	0.26	-24.8557	12.9693	0.58503	0.0:0.7392:0.0:0.2608	.	206	O00559	RCAS1_HUMAN	K	206;206;251	.	ENSP00000337675:N206K	N	+	3	2	2	EBAG9	110645940	110645940	0.037000	0.19845	0.991000	0.47740	0.958000	0.62258	0.178000	0.16820	0.110000	0.17919	-0.797000	0.03246	AAC	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.388	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	1	0	1	2	2	2	2	0	0	0	0	99	99	99	98	1	1.890000	-16.289010	1	0.230000	NM_004215		0	42	42	0	324	319	1		1	1		0	0	99	0	0	1.000000	9.832449e-01	0	10	0	42	0	42	324
TCEB1	6921	broad.mit.edu	37	8	74858992	74858992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:74858992G>T	ENST00000522337.1	-	5	531	c.212C>A	c.(211-213)tCg>tAg	p.S71*	TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71*			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	71					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GCATACTTTCGATAGCACATG	0.398																																						ENST00000522337.1	0.420000	0.100000	3.200000e-01	1.500000e-01	0.220000	0.244872	0.220000	0.220000																										0				7						c.(211-213)tCg>tAg		transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)							99.0	82.0	88.0					8																	74858992		2203	4300	6503	SO:0001587	stop_gained	6921	0	0					g.chr8:74858992G>T	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.212C>A	chr8.hg19:g.74858992G>T	ENSP00000429906:p.Ser71*	0					TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71*	p.S71*			0	1	1	2.020490	Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)	5	531	-	Breast(64;0.0311)		E5RGD9|Q567Q6	Nonsense_Mutation	SNP	ENST00000522337.1	0	1	hg19	c.212C>A	CCDS34910.1	0	.	.	.	.	.	.	.	.	.	.	G	37	6.088852	0.97271	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-2.4048	19.7525	0.96273	0.0:0.0:1.0:0.0	.	.	.	.	X	71;55;71;71;71;71;71;71	.	ENSP00000284811:S71X	S	-	2	0	0	TCEB1	75021546	75021546	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.103000	0.94232	2.669000	0.90835	0.591000	0.81541	TCG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.398	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	0	0	1	2	2	2	2	0	0	0	0	61	61	61	61	1	1.890000	-3.075696	1	0.230000	NM_005648		0	7	7	0	271	268	0		1	0		0	0	61	0	0	0.980215	9.708467e-01	0	0	0	246	0	7	271
ZFHX4	79776	broad.mit.edu	37	8	77766289	77766289	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:77766289G>T	ENST00000521891.2	+	10	7580	c.7132G>T	c.(7132-7134)Gcc>Tcc	p.A2378S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2333	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACGCTGCTGCCCCTGCAGC	0.512										HNSCC(33;0.089)																												ENST00000521891.2	1.000000	0.840000	1	9.700000e-01	0.990000	0.985984	0.990000	1.000000																										0				432						c.(7132-7134)Gcc>Tcc		zinc finger homeobox 4							95.0	95.0	95.0					8																	77766289		1996	4157	6153	SO:0001583	missense	79776	0	0					g.chr8:77766289G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7132G>T	chr8.hg19:g.77766289G>T	ENSP00000430497:p.Ala2378Ser	0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S	p.A2378S	NM_024721.4	NP_078997.4	0	1	1	2.020490	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	10	7580	+			G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	1	1	hg19	c.7132G>T	CCDS47878.2	1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535947	0.27475	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.77;0.77	4.8	3.91	0.45181	4.8	3.91	0.45181	.	0.861471	0.09598	U	0.780516	T	0.34483	0.0899	N	0.22421	0.69	0.21105	N	0.99978	B;B;B	0.15473	0.008;0.013;0.013	B;B;B	0.18561	0.01;0.022;0.022	T	0.14839	-1.0458	10	0.10636	T	0.68	.	13.5636	0.61804	0.0765:0.0:0.9235:0.0	.	2333;2333;2378	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2378;2362;2333;2333;2352	ENSP00000430497:A2378S;ENSP00000399605:A2333S;ENSP00000050961:A2333S;ENSP00000430848:A2352S	ENSP00000050961:A2333S	A	+	1	0	0	ZFHX4	77928844	77928844	0.860000	0.29831	0.005000	0.12908	0.896000	0.52359	4.707000	0.61852	1.210000	0.43336	0.650000	0.86243	GCC	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1	2	2	2	2	0	0	0	0	113	113	113	112	1	1.890000	-19.733010	1	0.230000	NM_024721		0	47	47	0	314	309	0		1	0		0	0	113	0	0	1.000000	0	0	0	0	1	0	47	314
CA1	759	broad.mit.edu	37	8	86250487	86250487	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:86250487G>T	ENST00000523953.1	-	4	1275	c.229C>A	c.(229-231)Cga>Aga	p.R77R	CA1_ENST00000432364.2_Silent_p.R77R|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000256119.5_Silent_p.R77R|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000431316.1_Silent_p.R77R|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Silent_p.R77R			P00915	CAH1_HUMAN	carbonic anhydrase I	77					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCACCTGATCGGTTATCGTTG	0.393																																						ENST00000523953.1	0.260000	0.080000	2.100000e-01	1.100000e-01	0.150000	0.167536	0.150000	0.160000																										0				13						c.(229-231)Cga>Aga		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)						188.0	189.0	189.0					8																	86250487		2203	4300	6503	SO:0001819	synonymous_variant	759	0	0					g.chr8:86250487G>T	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.229C>A	chr8.hg19:g.86250487G>T		0					CA1_ENST00000522389.1_Intron|CA1_ENST00000432364.2_Silent_p.R77R|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000256119.5_Silent_p.R77R|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000523022.1_Silent_p.R77R|CA1_ENST00000431316.1_Silent_p.R77R	p.R77R			0	1	1	2.020490	P00915	CAH1_HUMAN		4	1275	-		all_lung(136;4.89e-06)		Silent	SNP	ENST00000523953.1	0	1	hg19	c.229C>A	CCDS6237.1	0	.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975851	0.02215	.	.	ENSG00000133742	ENST00000521679	.	.	.	5.14	3.31	0.37934	5.14	3.31	0.37934	.	.	.	.	.	T	0.68522	0.3010	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65549	-0.6141	4	.	.	.	-1.2951	13.4955	0.61424	0.0:0.0:0.7637:0.2363	.	.	.	.	Q	13	.	.	P	-	2	0	0	CA1	86437739	86437739	0.998000	0.40836	0.030000	0.17652	0.077000	0.17291	1.135000	0.31454	0.534000	0.28695	0.591000	0.81541	CCG	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.393	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	0	0	1	2	2	2	2	0	0	0	0	174	174	174	173	1	1.890000	-1.818630	0	0.230000	NM_001738		0	11	11	0	605	592	0		1			0	0	174	0	0	0.998145	0	0	0	0	0	0	11	605
SLC26A7	115111	broad.mit.edu	37	8	92364116	92364116	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:92364116G>C	ENST00000276609.3	+	10	1457		c.e10+1		SLC26A7_ENST00000309536.2_Splice_Site|SLC26A7_ENST00000520249.1_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCTGCCCATGGTACGGTAGTG	0.343																																						ENST00000276609.3	1.000000	0.740000	1	8.300000e-01	0.920000	0.920964	0.920000	1.000000																										0				50						c.e10+1		solute carrier family 26 (anion exchanger), member 7							190.0	172.0	178.0					8																	92364116		2203	4300	6503	SO:0001630	splice_region_variant	115111	0	0					g.chr8:92364116G>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1218+1G>C	chr8.hg19:g.92364116G>C		0					SLC26A7_ENST00000520249.1_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site		NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	0	1	1	2.020490			BRCA - Breast invasive adenocarcinoma(11;0.00802)	10	1457	+				Splice_Site	SNP	ENST00000276609.3	1	1	hg19		CCDS6254.1	1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245791	0.59103	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	.	.	.	5.55	5.55	0.83447	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.089	0.93219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SLC26A7	92433292	92433292	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	6.331000	0.72929	2.610000	0.88304	0.591000	0.81541	.	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.343	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1	1	0	1	2	2	2	2	0	0	0	0	194	194	194	190	1	1.890000	-19.999980	1	0.230000		Intron	0	77	75	0	639	629	1		1			0	0	194	0	0	1.000000	0	0	0	0	0	0	77	639
PHF20L1	51105	broad.mit.edu	37	8	133790126	133790126	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:133790126C>A	ENST00000395386.2	+	2	351	c.52C>A	c.(52-54)Cgt>Agt	p.R18S	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	18	Tudor 1.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATTGGTGCTCGTTTGGAGGC	0.363																																						ENST00000395386.2	0.240000	0.050000	1.900000e-01	9.000000e-02	0.130000	0.143951	0.130000	0.130000																										0				15						c.(52-54)Cgt>Agt		PHD finger protein 20-like 1							120.0	124.0	123.0					8																	133790126		2203	4300	6503	SO:0001583	missense	51105	0	0					g.chr8:133790126C>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.52C>A	chr8.hg19:g.133790126C>A	ENSP00000378784:p.Arg18Ser	0					PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S	p.R18S	NM_016018.4	NP_057102.4	0	1	1	2.020490	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)	2	351	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	0	1	hg19	c.52C>A	CCDS6367.2	0	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586264	0.86851	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395390	T;T;T;T;T;T;T;T	0.49139	0.8;0.82;0.85;1.36;0.79;0.85;0.81;1.41	5.71	5.71	0.89125	5.71	5.71	0.89125	Tudor-like, plant (1);Tudor domain (1);	0.156524	0.64402	D	0.000013	T	0.56775	0.2008	L	0.33624	1.015	0.80722	D	1	D;P;D;D;D	0.63046	0.988;0.755;0.992;0.99;0.987	P;B;P;P;P	0.60682	0.878;0.291;0.855;0.729;0.526	T	0.54456	-0.8291	10	0.46703	T	0.11	-8.4742	18.4154	0.90568	0.0:1.0:0.0:0.0	.	18;18;18;18;18	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	S	18	ENSP00000378781:R18S;ENSP00000378777:R18S;ENSP00000355301:R18S;ENSP00000378784:R18S;ENSP00000324519:R18S;ENSP00000338269:R18S;ENSP00000378775:R18S;ENSP00000378788:R18S	ENSP00000324519:R18S	R	+	1	0	0	PHF20L1	133859308	133859308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.940000	0.56599	2.685000	0.91497	0.585000	0.79938	CGT	0.228225		TCGA-HZ-A77Q-01A-11D-A36O-08	0.363	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	0	0	1	2	17	2	2	0	0	0	1	113	113	113	110	1	1.890000	-2.302103	0	0.230000	NM_016018		0	8	11	0	529	518	0		0	0		0	0	113	0	0	0.047915	3.441907e-02	0	0	0	17	0	8	529
IKBKAP	8518	broad.mit.edu	37	9	111678495	111678495	+	Missense_Mutation	SNP	G	G	T	rs374814563		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111678495G>T	ENST00000374647.5	-	10	1254	c.947C>A	c.(946-948)cCg>cAg	p.P316Q	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	316					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGGTTTTCGGAATGGAGCT	0.453																																						ENST00000374647.5	0.300000	0.080000	2.400000e-01	1.200000e-01	0.170000	0.187630	0.170000	0.170000																										0				53						c.(946-948)cCg>cAg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							137.0	140.0	139.0					9																	111678495		2203	4300	6503	SO:0001583	missense	8518	0	0					g.chr9:111678495G>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.947C>A	chr9.hg19:g.111678495G>T	ENSP00000363779:p.Pro316Gln	0					IKBKAP_ENST00000537196.1_5'UTR	p.P316Q	NM_003640.3	NP_003631.2	0	1	1	2.017515	O95163	ELP1_HUMAN		10	1254	-			Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	0	1	hg19	c.947C>A	CCDS6773.1	0	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337794	0.24253	.	.	ENSG00000070061	ENST00000374647	T	0.20200	2.09	5.61	-1.68	0.08212	5.61	-1.68	0.08212	.	0.937565	0.09059	N	0.854523	T	0.28267	0.0698	L	0.58101	1.795	0.09310	N	0.999999	D	0.53462	0.96	P	0.58873	0.847	T	0.33471	-0.9867	10	0.13108	T	0.6	0.1594	4.912	0.13827	0.3142:0.3299:0.3559:0.0	.	316	O95163	ELP1_HUMAN	Q	316	ENSP00000363779:P316Q	ENSP00000363779:P316Q	P	-	2	0	0	IKBKAP	110718316	110718316	0.083000	0.21467	0.028000	0.17463	0.086000	0.17979	0.861000	0.27885	-0.103000	0.12175	-1.004000	0.02495	CCG	0.226442		TCGA-HZ-A77Q-01A-11D-A36O-08	0.453	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1	0	0	1	2	2	2	2	0	0	0	0	132	132	132	131	1	1.890000	-2.215935	0	0.230000			0	10	9	0	492	483	0		1	0		0	0	132	0	0	0.996609	3.344671e-02	0	0	0	13	0	10	492
LPAR1	1902	broad.mit.edu	37	9	113703751	113703751	+	Missense_Mutation	SNP	C	C	A	rs569190522		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:113703751C>A	ENST00000374431.3	-	4	1126	c.743G>T	c.(742-744)cGg>cTg	p.R248L	LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L|LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	248					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCCCGATTCCGCCGGGGTCC	0.453																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3	0.390000	0.110000	3.100000e-01	1.600000e-01	0.230000	0.245737	0.230000	0.230000																										0				21						c.(742-744)cGg>cTg		lysophosphatidic acid receptor 1							84.0	85.0	84.0					9																	113703751		2203	4300	6503	SO:0001583	missense	1902	0	0					g.chr9:113703751C>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.743G>T	chr9.hg19:g.113703751C>A	ENSP00000363553:p.Arg248Leu	0					LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L	p.R248L	NM_057159.2	NP_476500.1	0	1	1	2.017515	Q92633	LPAR1_HUMAN		4	1126	-			B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	0	1	hg19	c.743G>T	CCDS6777.1	0	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229298	0.79688	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.19	5.19	0.71726	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.86953	2.85	0.58432	D	0.999999	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.71414	0.973;0.924;0.973	T	0.73004	-0.4119	10	0.87932	D	0	.	17.708	0.88314	0.0:1.0:0.0:0.0	.	249;249;248	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	L	248;249;248;248;230;249	ENSP00000363553:R248L;ENSP00000445697:R249L;ENSP00000363552:R248L;ENSP00000351755:R248L;ENSP00000440201:R249L	ENSP00000351755:R248L	R	-	2	0	0	LPAR1	112743572	112743572	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	6.089000	0.71384	2.437000	0.82529	0.563000	0.77884	CGG	0.226442		TCGA-HZ-A77Q-01A-11D-A36O-08	0.453	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	0	0	1	2	2	2	2	0	0	0	0	106	106	106	104	1	1.890000	-2.722102	1	0.230000	NM_057159		0	10	8	0	372	363	0		1	0		0	0	106	0	0	0.996490	4.206893e-01	0	0	0	51	0	10	372
GARNL3	84253	broad.mit.edu	37	9	130027240	130027240	+	Silent	SNP	G	G	T	rs141855938		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:130027240G>T	ENST00000373387.4	+	1	436	c.84G>T	c.(82-84)tcG>tcT	p.S28S	GARNL3_ENST00000435213.2_Silent_p.S6S|GARNL3_ENST00000314904.5_Silent_p.S28S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	28					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCTCTGTCTCGGAAGACCTAG	0.423																																						ENST00000373387.4	0.190000	0.050000	1.500000e-01	7.000000e-02	0.110000	0.119851	0.110000	0.110000																										0				41						c.(82-84)tcG>tcT		GTPase activating Rap/RanGAP domain-like 3							252.0	239.0	243.0					9																	130027240		2203	4300	6503	SO:0001819	synonymous_variant	84253	0	0					g.chr9:130027240G>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.84G>T	chr9.hg19:g.130027240G>T		0					GARNL3_ENST00000314904.5_Silent_p.S28S|GARNL3_ENST00000435213.2_Silent_p.S6S	p.S28S	NM_032293.4	NP_115669.3	0	1	1	2.017515	Q5VVW2	GARL3_HUMAN		1	436	+			B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	0	1	hg19	c.84G>T	CCDS6869.2	0																																																																																								0.226442		TCGA-HZ-A77Q-01A-11D-A36O-08	0.423	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	0	0	1	2	2	2	2	0	0	0	0	176	176	176	172	1	1.890000	-1.875923	0	0.230000	NM_032293		0	10	10	0	779	763	0		1	0		0	0	176	0	0	0.996559	6.236348e-04	0	0	0	3	0	10	779
RIC1	57589	broad.mit.edu	37	9	5763327	5763327	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:5763327G>T	ENST00000414202.2	+	19	2491	c.2300G>T	c.(2299-2301)cGg>cTg	p.R767L	KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.R688L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTGTCCCAGCGGATCATGCTG	0.517																																						ENST00000414202.2	1.000000	0.040000	1.400000e-01	6.000000e-02	0.090000	0.127731	0.090000	0.100000																										1	Substitution - Missense(1)	p.R688L(1)	lung(1)	45						c.(2299-2301)cGg>cTg									243.0	220.0	228.0					9																	5763327		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr9:5763327G>T																												ENST00000414202.2:c.2300G>T	chr9.hg19:g.5763327G>T	ENSP00000416696:p.Arg767Leu	1					KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L|KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L	p.R767L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	0	2	2	2.031152				19	2491	+		Acute lymphoblastic leukemia(23;0.154)		Missense_Mutation	SNP	ENST00000414202.2	0	1	hg19	c.2300G>T	CCDS34982.2	0	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794235	0.90453	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.78	5.78	0.91487	5.78	5.78	0.91487	Ribosome control protein 1 (1);	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.997	D	0.85507	0.1195	9	0.51188	T	0.08	-19.9006	20.0079	0.97439	0.0:0.0:1.0:0.0	.	651;688;767;767	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	L	767;767;688;688;651	.	ENSP00000251879:R767L	R	+	2	0	0	KIAA1432	5753327	5753327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.726000	0.93360	0.561000	0.74099	CGG	0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.517	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3	0	0	1	2	2	2	2	0	0	0	0	247	247	247	247	1	1.890000	-1.871698	0	0.230000			0	9	9	0	839	830	0		1	0		0	0	247	0	0	0.993947	1.070369e-02	0	0	0	13	0	9	839
SNAPC3	6619	broad.mit.edu	37	9	15459726	15459726	+	Silent	SNP	G	G	T	rs113748924	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:15459726G>T	ENST00000380821.3	+	9	1274	c.1098G>T	c.(1096-1098)acG>acT	p.T366T		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	366					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GATGGGTGACGAACAATGACA	0.373																																						ENST00000380821.3	1.000000	0.080000	2.400000e-01	1.200000e-01	0.170000	0.206948	0.170000	0.170000																										0				12						c.(1096-1098)acG>acT		small nuclear RNA activating complex, polypeptide 3, 50kDa							137.0	129.0	131.0					9																	15459726		2203	4300	6503	SO:0001819	synonymous_variant	6619	0	0					g.chr9:15459726G>T	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.1098G>T	chr9.hg19:g.15459726G>T		1						p.T366T	NM_001039697.1	NP_001034786.1	0	2	2	2.031152	Q92966	SNPC3_HUMAN		9	1274	+			D3DRI8|Q2VPI6|Q5T285	Silent	SNP	ENST00000380821.3	0	1	hg19	c.1098G>T	CCDS6478.1	0																																																																																								0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.373	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	0	0	1	2	2	2	2	0	0	0	0	105	105	105	104	1	1.890000	-2.792254	1	0.230000	NM_001039697		0	10	9	0	506	495	0		1	0		0	0	105	0	0	0.996547	2.478432e-01	0	0	0	45	0	10	506
BARHL1	56751	broad.mit.edu	37	9	135462791	135462791	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:135462791C>T	ENST00000263610.2	+	2	1155	c.542C>T	c.(541-543)gCg>gTg	p.A181V	BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	181					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCACGCAAGGCGCGCACGGCC	0.677																																						ENST00000263610.2	1.000000	0.400000	1	6.500000e-01	0.980000	0.866974	0.980000	1.000000																										0				8						c.(541-543)gCg>gTg		BarH-like homeobox 1							24.0	20.0	21.0					9																	135462791		2198	4299	6497	SO:0001583	missense	56751	0	0					g.chr9:135462791C>T	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.542C>T	chr9.hg19:g.135462791C>T	ENSP00000263610:p.Ala181Val	0					BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V	p.A181V	NM_020064.3	NP_064448.1	0	1	1	2.017515	Q9BZE3	BARH1_HUMAN		2	1155	+			Q5T6V2|Q9NY88	Missense_Mutation	SNP	ENST00000263610.2	0	1	hg19	c.542C>T	CCDS6950.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831568	0.91036	.	.	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.96265	-3.96;-3.96	4.9	4.9	0.64082	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	N	0.25094	0.71	0.80722	D	1	P	0.39060	0.657	B	0.41723	0.365	D	0.94391	0.7614	10	0.87932	D	0	.	15.5939	0.76562	0.0:1.0:0.0:0.0	.	181	Q9BZE3	BARH1_HUMAN	V	181	ENSP00000263610:A181V;ENSP00000444704:A181V	ENSP00000263610:A181V	A	+	2	0	0	BARHL1	134452612	134452612	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.811000	0.86092	2.269000	0.75478	0.555000	0.69702	GCG	0.226442		TCGA-HZ-A77Q-01A-11D-A36O-08	0.677	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2	0	0	1	2	2	2	2	0	0	0	0	15	15	15	15	1	1.890000	-11.037760	1	0.230000			0	5	4	0	39	38	0		1			0	0	15	0	0	0.933690	0	0	0	0	0	0	5	39
WWC3	55841	broad.mit.edu	37	X	10090729	10090729	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:10090729G>T	ENST00000380861.4	+	12	2092	c.1701G>T	c.(1699-1701)tcG>tcT	p.S567S	WWC3_ENST00000454666.1_Silent_p.S567S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	567					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CATGTCTGTCGGATTATTCGC	0.522																																						ENST00000380861.4	0.150000	0.040000	1.200000e-01	6.000000e-02	0.090000	0.098770	0.090000	0.100000																										0				52						c.(1699-1701)tcG>tcT		WWC family member 3							258.0	234.0	242.0					X																	10090729		2203	4300	6503	SO:0001819	synonymous_variant	55841	0	0					g.chrX:10090729G>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1701G>T	chrX.hg19:g.10090729G>T							WWC3_ENST00000454666.1_Silent_p.S567S	p.S567S	NM_015691.3	NP_056506.2	0	1	1		Q9ULE0	WWC3_HUMAN		12	2092	+			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	0	1	hg19	c.1701G>T	CCDS14136.1	0	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.186238	0.01620	.	.	ENSG00000047644	ENST00000398613	.	.	.	4.72	-9.45	0.00600	4.72	-9.45	0.00600	.	.	.	.	.	.	.	.	.	.	.	0.51012	D	0.999909	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7766	1.7556	0.02981	0.4469:0.1995:0.1384:0.2152	.	.	.	.	X	572	.	.	G	+	1	0	0	WWC3	10050729	10050729	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	-1.599000	0.02085	-3.243000	0.00206	-0.926000	0.02714	GGA	0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.522	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	0	0	1	2	2	2	2	0	0	0	0	401	401	401	396	1	1.890000	-1.856401	0	0.230000	NM_015691		0	14	13	0	1301	1279	0		1	0		0	0	401	0	0	0.999713	2.460135e-02	0	0	0	21	0	14	1301
DOCK11	139818	broad.mit.edu	37	X	117796744	117796744	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117796744C>A	ENST00000276202.7	+	45	5128	c.5065C>A	c.(5065-5067)Cat>Aat	p.H1689N	DOCK11_ENST00000276204.6_Missense_Mutation_p.H1689N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1689	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GATGGATGTCCATTATAGTGA	0.338																																						ENST00000276202.7	0.420000	0.110000	3.300000e-01	1.600000e-01	0.230000	0.252932	0.230000	0.220000																										0				84						c.(5065-5067)Cat>Aat		dedicator of cytokinesis 11							96.0	82.0	87.0					X																	117796744		2203	4300	6503	SO:0001583	missense	139818	0	0					g.chrX:117796744C>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5065C>A	chrX.hg19:g.117796744C>A	ENSP00000276202:p.His1689Asn						DOCK11_ENST00000276204.6_Missense_Mutation_p.H1689N	p.H1689N	NM_144658.3	NP_653259.3	0	1	1		Q5JSL3	DOC11_HUMAN		45	5128	+			A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	0	1	hg19	c.5065C>A	CCDS35373.1	0	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978984	0.34942	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18016	2.24;2.24	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.052227	0.85682	D	0.000000	T	0.24392	0.0591	M	0.64997	1.995	0.36635	D	0.876492	P;P	0.46020	0.871;0.871	P;P	0.46237	0.508;0.508	T	0.12708	-1.0537	10	0.51188	T	0.08	-15.4143	11.2768	0.49172	0.0:0.9153:0.0:0.0847	.	1689;1689	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	1689	ENSP00000276204:H1689N;ENSP00000276202:H1689N	ENSP00000276202:H1689N	H	+	1	0	0	DOCK11	117680772	117680772	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	2.358000	0.44134	2.493000	0.84123	0.600000	0.82982	CAT	0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	0	0	1	2	2	2	2	0	0	0	0	57	57	57	57	1	1.890000	-3.059626	1	0.230000	NM_144658		0	8	8	0	296	290	0		1	0		0	0	57	0	0	0.988736	3.160310e-01	0	0	0	39	0	8	296
FRMPD4	9758	broad.mit.edu	37	X	12736390	12736390	+	Missense_Mutation	SNP	C	C	A	rs376578782		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:12736390C>A	ENST00000380682.1	+	16	3951	c.3445C>A	c.(3445-3447)Cgc>Agc	p.R1149S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1149					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAGGGGACCGCTTCTTAAC	0.547																																						ENST00000380682.1	0.170000	0.040000	1.400000e-01	7.000000e-02	0.100000	0.108955	0.100000	0.100000																										0				22						c.(3445-3447)Cgc>Agc		FERM and PDZ domain containing 4							178.0	164.0	169.0					X																	12736390		2203	4300	6503	SO:0001583	missense	9758	0	0					g.chrX:12736390C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3445C>A	chrX.hg19:g.12736390C>A	ENSP00000370057:p.Arg1149Ser							p.R1149S	NM_014728.3	NP_055543.2	0	1	1		Q14CM0	FRPD4_HUMAN		16	3951	+			A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	0	1	hg19	c.3445C>A	CCDS35201.1	0	.	.	.	.	.	.	.	.	.	.	C	4.574	0.106565	0.08780	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05382	3.45	5.4	3.44	0.39384	5.4	3.44	0.39384	.	0.470669	0.24506	N	0.037922	T	0.02494	0.0076	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47114	-0.9142	10	0.12430	T	0.62	-3.5221	7.3842	0.26872	0.299:0.6019:0.0:0.0991	.	1141;1149	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	1149;1140;1138	ENSP00000370057:R1149S	ENSP00000304583:R1138S	R	+	1	0	0	FRMPD4	12646311	12646311	0.028000	0.19301	0.989000	0.46669	0.915000	0.54546	1.772000	0.38552	1.052000	0.40392	0.600000	0.82982	CGC	0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.547	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	0	0	1	2	2	2	2	0	0	0	0	260	260	260	258	1	1.890000	-1.981362	0	0.230000	XM_045712		0	12	11	0	1020	1001	0		1			0	0	260	0	0	0.998997	0	0	0	0	0	0	12	1020
IL13RA1	3597	broad.mit.edu	37	X	117925772	117925772	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117925772C>A	ENST00000371666.3	+	11	1306	c.1239C>A	c.(1237-1239)acC>acA	p.T413T	IL13RA1_ENST00000371637.3_Silent_p.T212T	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	413					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGGAGGAAACCGACTCTGTAG	0.393																																						ENST00000371666.3	0.270000	0.070000	2.100000e-01	1.000000e-01	0.150000	0.164869	0.150000	0.150000																										0				12						c.(1237-1239)acC>acA		interleukin 13 receptor, alpha 1							195.0	169.0	178.0					X																	117925772		2203	4300	6503	SO:0001819	synonymous_variant	3597	0	0					g.chrX:117925772C>A	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1239C>A	chrX.hg19:g.117925772C>A							IL13RA1_ENST00000371637.3_Silent_p.T212T	p.T413T	NM_001560.2	NP_001551.1	0	1	1		P78552	I13R1_HUMAN		11	1306	+			O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP	ENST00000371666.3	0	1	hg19	c.1239C>A	CCDS14573.1	0																																																																																								0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.393	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	0	0	1	2	15	9	2	1	1	1	1	128	128	128	127	1	1.890000	-2.413749	0	0.230000	NM_001560		0	9	9	0	513	504	0		0	0		1	0	128	0	0	0.138855	9.291015e-02	0	0	0	254	0	9	513
MMGT1	93380	broad.mit.edu	37	X	135049610	135049610	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:135049610C>A	ENST00000305963.2	-	3	562	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	59					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|endometrium(1)|kidney(1)	3						TGAACTATACCGTAACAGGTA	0.318																																						ENST00000305963.2	0.210000	0.060000	1.700000e-01	9.000000e-02	0.120000	0.135495	0.120000	0.120000																										0				3						c.(175-177)Ggt>Tgt		membrane magnesium transporter 1							131.0	124.0	126.0					X																	135049610		2203	4300	6503	SO:0001583	missense	93380	0	0					g.chrX:135049610C>A	AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"""ER membrane protein complex subunit 5"""		"""transmembrane protein 32"""	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.175G>T	chrX.hg19:g.135049610C>A	ENSP00000306220:p.Gly59Cys						MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	p.G59C	NM_173470.1	NP_775741.1	0	1	1		Q8N4V1	MMGT1_HUMAN		3	562	-			B2R625|B4DIY3|D3DWG7|Q5JPP7	Missense_Mutation	SNP	ENST00000305963.2	0	1	hg19	c.175G>T	CCDS14653.1	0	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545456	0.86022	.	.	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86167	0.1597	9	0.87932	D	0	.	16.9176	0.86155	0.0:1.0:0.0:0.0	.	124;59	Q8N4V1-2;Q8N4V1	.;MMGT1_HUMAN	C	59;124	.	ENSP00000306220:G59C	G	-	1	0	0	MMGT1	134877276	134877276	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.289000	0.77006	0.600000	0.82982	GGT	0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.318	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058453.3	0	0	1	2	2	2	2	0	0	0	0	192	192	192	189	1	1.890000	-1.781452	0	0.230000	NM_173470		0	13	13	0	880	869	0		1	0		0	0	192	0	0	0.999478	2.960969e-02	0	0	0	17	0	13	880
SHROOM2	357	broad.mit.edu	37	X	9864330	9864330	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:9864330T>C	ENST00000380913.3	+	4	2472	c.2382T>C	c.(2380-2382)ttT>ttC	p.F794F		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	794					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGGCACGTTTGCTGACAGGT	0.557																																						ENST00000380913.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.990567	0.990000	1.000000																										0				57						c.(2380-2382)ttT>ttC		shroom family member 2							46.0	46.0	46.0					X																	9864330		2203	4300	6503	SO:0001819	synonymous_variant	357	0	0					g.chrX:9864330T>C	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2382T>C	chrX.hg19:g.9864330T>C								p.F794F	NM_001649.2	NP_001640.1	0	1	1		Q13796	SHRM2_HUMAN		4	2472	+		Hepatocellular(5;0.000888)	B9EIQ7	Silent	SNP	ENST00000380913.3	1	1	hg19	c.2382T>C	CCDS14135.1	1																																																																																								0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.557	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	1	0	0	2	2	2	2	0	0	0	0	71	71	71	68	1	1.890000	-20.000000	1	0.230000	NM_001649		0	36	35	0	224	222	0		1			0	0	71	0	0	1.000000	0	0	0	0	0	0	36	224
CXorf22	170063	broad.mit.edu	37	X	35993949	35993949	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:35993949C>A	ENST00000297866.5	+	15	2698	c.2632C>A	c.(2632-2634)Cgt>Agt	p.R878S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	878										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGTATAATCGTCAGAATTG	0.403																																						ENST00000297866.5	0.220000	0.070000	1.800000e-01	1.000000e-01	0.130000	0.147473	0.130000	0.140000																										0				44						c.(2632-2634)Cgt>Agt		chromosome X open reading frame 22							175.0	156.0	163.0					X																	35993949		2202	4300	6502	SO:0001583	missense	170063	0	0					g.chrX:35993949C>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2632C>A	chrX.hg19:g.35993949C>A	ENSP00000297866:p.Arg878Ser							p.R878S	NM_152632.3	NP_689845.2	0	1	1		Q6ZTR5	CX022_HUMAN		15	2698	+			Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	0	1	hg19	c.2632C>A	CCDS14237.2	0	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766948	0.15983	.	.	ENSG00000165164	ENST00000297866	T	0.14022	2.54	5.31	3.49	0.39957	5.31	3.49	0.39957	.	0.893270	0.09773	N	0.757696	T	0.10465	0.0256	L	0.38175	1.15	0.09310	N	0.999997	P	0.37141	0.584	B	0.37047	0.24	T	0.24977	-1.0145	10	0.09084	T	0.74	-2.0E-4	7.3829	0.26866	0.1665:0.7418:0.0:0.0917	.	878	Q6ZTR5	CX022_HUMAN	S	878	ENSP00000297866:R878S	ENSP00000297866:R878S	R	+	1	0	0	CXorf22	35903870	35903870	0.970000	0.33590	0.244000	0.24202	0.047000	0.14425	2.312000	0.43726	0.409000	0.25649	0.600000	0.82982	CGT	0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	0	0	1	2	15	2	2	1	1	1	1	213	213	213	212	1	1.890000	-2.745912	1	0.230000	NM_152632		0	14	15	0	865	844	0		1			1	0	213	0	0	0.473637	0	0	0	0	0	0	14	865
USP9X	8239	broad.mit.edu	37	X	41045841	41045841	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:41045841C>A	ENST00000324545.8	+	24	4263	c.3630C>A	c.(3628-3630)tcC>tcA	p.S1210S	USP9X_ENST00000378308.2_Silent_p.S1210S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1210					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S1203S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATCCATCATCCGAGTGCATGC	0.403																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.8	0.180000	0.040000	1.400000e-01	6.000000e-02	0.090000	0.108471	0.090000	0.100000																										1	Substitution - coding silent(1)	p.S1203S(1)	large_intestine(1)	87						c.(3628-3630)tcC>tcA		ubiquitin specific peptidase 9, X-linked							205.0	183.0	190.0					X																	41045841		2203	4300	6503	SO:0001819	synonymous_variant	8239	0	0					g.chrX:41045841C>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3630C>A	chrX.hg19:g.41045841C>A							USP9X_ENST00000378308.2_Silent_p.S1210S	p.S1210S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	0	1	1		Q93008	USP9X_HUMAN		24	4263	+			O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	0	1	hg19	c.3630C>A	CCDS43930.1	0																																																																																								0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.403	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	0	0	1	2	2	2	2	0	0	0	0	174	174	174	172	1	1.890000	-2.364394	0	0.230000	NM_004652		0	8	8	0	708	691	0		1	0		0	0	174	0	0	0.988325	1.170146e-01	0	0	0	46	0	8	708
FOXP3	50943	broad.mit.edu	37	X	49113997	49113997	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:49113997C>T	ENST00000376207.4	-	4	528	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q|FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	114					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CACAGGGGTCCGGGCGTGGGC	0.682																																					GBM(182;1432 2112 16160 23073 31774)	ENST00000376207.4	1.000000	0.520000	1	7.300000e-01	0.990000	0.898187	0.990000	1.000000																										0				10						c.(340-342)cGg>cAg		forkhead box P3																																				SO:0001583	missense	50943	4	120744	30				g.chrX:49113997C>T		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.341G>A	chrX.hg19:g.49113997C>T	ENSP00000365380:p.Arg114Gln						FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q	p.R114Q	NM_014009.3	NP_054728.2	0	1	1		Q9BZS1	FOXP3_HUMAN		4	528	-	Ovarian(276;0.236)		A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	0	1	hg19	c.341G>A	CCDS14323.1	1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079527	0.36662	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.98120	-3.67;-3.73;-4.73;-3.73;-4.68;-4.13	5.34	4.47	0.54385	5.34	4.47	0.54385	.	0.229124	0.30791	N	0.008864	D	0.92561	0.7637	N	0.19112	0.55	0.28547	N	0.91181	B;B;B;B;B	0.31435	0.174;0.323;0.226;0.174;0.266	B;B;B;B;B	0.21708	0.007;0.018;0.036;0.007;0.027	D	0.87553	0.2466	10	0.38643	T	0.18	.	8.6545	0.34055	0.0:0.8895:0.0:0.1105	.	114;114;79;114;79	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	Q	114;79;79;79;64;114	ENSP00000365380:R114Q;ENSP00000365372:R79Q;ENSP00000451208:R79Q;ENSP00000428952:R79Q;ENSP00000365369:R64Q;ENSP00000396415:R114Q	ENSP00000365369:R64Q	R	-	2	0	0	FOXP3	49000941	49000941	0.999000	0.42202	0.966000	0.40874	0.913000	0.54294	0.873000	0.28052	1.119000	0.41883	0.513000	0.50165	CGG	0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.682	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	1	0	1	2	2	2	2	0	0	0	0	17	17	17	16	1	1.890000	-7.268423	1	0.230000	NM_014009		0	10	10	0	78	77	1		1	0		0	0	17	0	0	0.997283	5.457744e-01	0	0	0	15	0	10	78
ZC3H12B	340554	broad.mit.edu	37	X	64719034	64719034	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64719034C>A	ENST00000338957.4	+	3	971	c.904C>A	c.(904-906)Cga>Aga	p.R302R	ZC3H12B_ENST00000423889.3_Silent_p.R291R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	302							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATAACTACCGAGACCTTCA	0.443																																						ENST00000338957.4	0.340000	0.080000	2.600000e-01	1.200000e-01	0.180000	0.199089	0.180000	0.180000																										0				29						c.(904-906)Cga>Aga		zinc finger CCCH-type containing 12B							107.0	98.0	101.0					X																	64719034		1891	4098	5989	SO:0001819	synonymous_variant	340554	0	0					g.chrX:64719034C>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.904C>A	chrX.hg19:g.64719034C>A							ZC3H12B_ENST00000423889.3_Silent_p.R291R	p.R302R	NM_001010888.3	NP_001010888.3	0	1	1		Q5HYM0	ZC12B_HUMAN		3	971	+			B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	0	1	hg19	c.904C>A	CCDS48131.2	0																																																																																								0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.443	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	0	0	1	2	2	2	2	0	0	0	0	92	92	92	92	1	1.890000	-2.495838	0	0.230000	XM_293334		0	7	7	0	337	332	0		1			0	0	92	0	0	0.979844	0	0	0	0	0	0	7	337
MSN	4478	broad.mit.edu	37	X	64949377	64949377	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64949377C>A	ENST00000360270.5	+	4	442	c.270C>A	c.(268-270)tcC>tcA	p.S90S		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	90	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.S90S(2)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGGATGTGTCCGAGGAATTGA	0.517			T	ALK	ALCL																																	ENST00000360270.5	0.270000	0.070000	2.100000e-01	1.000000e-01	0.150000	0.165182	0.150000	0.150000				Dom	yes			Dom	yes		X	Xq11.2-q12	Xq11.2-q12	4478	T	moesin				L	L	ALK		ALCL	MSN/ALK(6)	2	Substitution - coding silent(2)	p.S90S(2)	lung(1)|kidney(1)	43						c.(268-270)tcC>tcA		moesin							118.0	96.0	103.0					X																	64949377		2203	4300	6503	SO:0001819	synonymous_variant	4478	0	0					g.chrX:64949377C>A	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.270C>A	chrX.hg19:g.64949377C>A								p.S90S	NM_002444.2	NP_002435.1	0	1	1		P26038	MOES_HUMAN		4	442	+				Silent	SNP	ENST00000360270.5	0	1	hg19	c.270C>A	CCDS14382.1	0																																																																																								0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.517	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	0	0	1	2	2	2	2	0	0	0	0	121	121	121	121	1	1.890000	-2.714086	1	0.230000	NM_002444		0	9	9	0	512	499	0		1	0		0	0	121	0	0	0.993596	8.879128e-01	0	0	0	223	0	9	512
EDA2R	60401	broad.mit.edu	37	X	65819559	65819559	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:65819559C>T	ENST00000374719.3	-	6	717	c.661G>A	c.(661-663)Gac>Aac	p.D221N	EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N|EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	221					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GAGCTGCAGTCGTCCTCGAGG	0.577																																						ENST00000374719.3	1.000000	0.580000	1	7.700000e-01	0.990000	0.915876	0.990000	1.000000																										0				13						c.(661-663)Gac>Aac		ectodysplasin A2 receptor							78.0	50.0	60.0					X																	65819559		2203	4300	6503	SO:0001583	missense	60401	2	121332	29				g.chrX:65819559C>T	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.661G>A	chrX.hg19:g.65819559C>T	ENSP00000363851:p.Asp221Asn						EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N	p.D221N	NM_021783.3	NP_068555	0	1	1		Q9HAV5	TNR27_HUMAN		6	717	-			Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	1	1	hg19	c.661G>A	CCDS14386.1	1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868958	0.32977	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000451436;ENST00000253392;ENST00000456230;ENST00000450752	D;D;D;D;D	0.84800	-1.82;-1.82;-1.9;-1.82;-1.9	3.45	3.45	0.39498	3.45	3.45	0.39498	.	0.596206	0.13903	N	0.354801	T	0.72859	0.3513	L	0.27053	0.805	0.29256	N	0.871661	P;B;B	0.36125	0.538;0.054;0.004	B;B;B	0.26416	0.069;0.004;0.002	T	0.66602	-0.5882	10	0.32370	T	0.25	-5.3956	11.6654	0.51370	0.0:1.0:0.0:0.0	.	97;242;221	E7EUS4;Q9HAV5-2;Q9HAV5	.;.;TNR27_HUMAN	N	221;221;97;242;221;242	ENSP00000363851:D221N;ENSP00000379365:D221N;ENSP00000253392:D242N;ENSP00000393935:D221N;ENSP00000402929:D242N	ENSP00000253392:D242N	D	-	1	0	0	EDA2R	65736284	65736284	0.005000	0.15991	0.832000	0.32986	0.881000	0.50899	0.252000	0.18278	1.573000	0.49748	0.523000	0.50628	GAC	0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.577	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	1	0	1	2	2	2	2	0	0	0	0	27	27	27	25	1	1.890000	-19.907100	1	0.230000	NM_021783		0	13	12	0	99	98	0		1	0		0	0	27	0	0	0.999596	1.574213e-02	0	0	0	2	0	13	99
ARR3	407	broad.mit.edu	37	X	69497974	69497974	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:69497974C>A	ENST00000307959.8	+	11	804	c.753C>A	c.(751-753)ttC>ttA	p.F251L	ARR3_ENST00000374495.3_Missense_Mutation_p.F251L	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	251					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AGACTGTGTTCATTCAGGAAT	0.512																																						ENST00000307959.8	0.360000	0.090000	2.800000e-01	1.400000e-01	0.200000	0.215943	0.200000	0.200000																										0				16						c.(751-753)ttC>ttA		arrestin 3, retinal (X-arrestin)							95.0	70.0	78.0					X																	69497974		2203	4300	6503	SO:0001583	missense	407	0	0					g.chrX:69497974C>A		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.753C>A	chrX.hg19:g.69497974C>A	ENSP00000311538:p.Phe251Leu						ARR3_ENST00000374495.3_Missense_Mutation_p.F251L	p.F251L	NM_004312.2	NP_004303.2	0	1	1		P36575	ARRC_HUMAN		11	804	+			B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	0	1	hg19	c.753C>A	CCDS14399.1	0	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423118	0.43020	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.16196	2.36;2.36	4.45	2.62	0.31277	4.45	2.62	0.31277	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.463590	0.25622	N	0.029404	T	0.07279	0.0184	N	0.04162	-0.26	0.33290	D	0.563337	P;B	0.38280	0.625;0.001	B;B	0.34931	0.192;0.002	T	0.23547	-1.0185	10	0.44086	T	0.13	.	9.4817	0.38904	0.0:0.8173:0.0:0.1827	.	251;251	P36575;P36575-2	ARRC_HUMAN;.	L	251	ENSP00000363619:F251L;ENSP00000311538:F251L	ENSP00000311538:F251L	F	+	3	2	2	ARR3	69414699	69414699	0.664000	0.27457	0.266000	0.24541	0.988000	0.76386	1.268000	0.33062	0.260000	0.21731	0.513000	0.50165	TTC	0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.512	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	0	0	0	2	2	2	2	0	0	0	0	86	86	86	83	1	1.890000	-8.121649	1	0.230000	NM_004312		0	8	6	0	349	345	0		1			0	0	86	0	0	0.988816	0	0	0	0	0	0	8	349
KIAA2022	340533	broad.mit.edu	37	X	73963428	73963428	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:73963428G>T	ENST00000055682.6	-	3	1575	c.964C>A	c.(964-966)Cga>Aga	p.R322R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	322					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R322*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCTTGTCTCGAACATTGTCC	0.438																																						ENST00000055682.6	0.220000	0.050000	1.700000e-01	8.000000e-02	0.110000	0.128834	0.110000	0.120000																										1	Substitution - Nonsense(1)	p.R322*(1)	large_intestine(1)	109						c.(964-966)Cga>Aga		KIAA2022							91.0	78.0	83.0					X																	73963428		2203	4300	6503	SO:0001819	synonymous_variant	340533	0	0					g.chrX:73963428G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.964C>A	chrX.hg19:g.73963428G>T								p.R322R	NM_001008537.2	NP_001008537.1	0	1	1		Q5QGS0	K2022_HUMAN		3	1575	-			A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	0	1	hg19	c.964C>A	CCDS35337.1	0																																																																																								0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	0	0	1	2	2	2	2	0	0	0	0	156	156	156	156	1	1.890000	-2.881833	1	0.230000	NM_001008537		0	8	8	0	594	589	0		1			0	0	156	0	0	0.989074	0	0	0	0	0	0	8	594
ATP11C	286410	broad.mit.edu	37	X	138865392	138865392	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:138865392C>A	ENST00000327569.3	-	17	1808	c.1710G>T	c.(1708-1710)tcG>tcT	p.S570S	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Silent_p.S570S|ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000370557.1_Silent_p.S567S|ATP11C_ENST00000370543.1_Silent_p.S570S	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	570					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GAAAAACTGCCGAGTCTGCTC	0.383																																						ENST00000327569.3	0.220000	0.070000	1.800000e-01	1.000000e-01	0.130000	0.144847	0.130000	0.140000																										0				75						c.(1708-1710)tcG>tcT		ATPase, class VI, type 11C							176.0	169.0	172.0					X																	138865392		2203	4300	6503	SO:0001819	synonymous_variant	286410	0	0					g.chrX:138865392C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1710G>T	chrX.hg19:g.138865392C>A							ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000361648.2_Silent_p.S570S|ATP11C_ENST00000370557.1_Silent_p.S567S|ATP11C_ENST00000370543.1_Silent_p.S570S|ATP11C_ENST00000460773.1_5'UTR	p.S570S	NM_173694.4	NP_775965	0	1	1		Q8NB49	AT11C_HUMAN		17	1808	-	Acute lymphoblastic leukemia(192;0.000127)		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	0	1	hg19	c.1710G>T	CCDS14668.1	0	.	.	.	.	.	.	.	.	.	.	C	7.823	0.718142	0.15372	.	.	ENSG00000101974	ENST00000422228	.	.	.	5.03	-0.535	0.11879	5.03	-0.535	0.11879	.	.	.	.	.	T	0.38878	0.1057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	.	0.1686	0.00111	0.3292:0.1618:0.2295:0.2795	.	.	.	.	L	122	.	.	R	-	2	0	0	ATP11C	138693058	138693058	0.034000	0.19679	0.888000	0.34837	0.862000	0.49288	-0.918000	0.04021	-0.124000	0.11724	-1.375000	0.01183	CGG	0.230000		TCGA-HZ-A77Q-01A-11D-A36O-08	0.383	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	0	0	1	2	2	2	2	0	0	0	0	199	199	199	197	1	1.890000	-2.159076	0	0.230000	NM_173694		0	13	10	0	822	803	0		1	0		0	0	199	0	0	0.999441	3.005734e-02	0	0	0	16	0	13	822
