#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
PACS2	23241	broad.mit.edu	37	14	105818795	105818797	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			CTC	-	CTC	CTC		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:105818795_105818797delCTC	ENST00000325438.8	+	3	792_794	c.288_290delCTC	c.(286-291)ttctcc>ttc	p.S97del	PACS2_ENST00000447393.1_In_Frame_Del_p.S97del|PACS2_ENST00000458164.2_In_Frame_Del_p.S97del|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_In_Frame_Del_p.S30del			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	97					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCTGACCTTCTCCTTGCAGGTG	0.616											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325438.8	0.990000	0.680000	0.940000	0.760000	0.850000	0.852248	0.850000	0.860000																										0				21						c.(286-291)ttctcc>ttc		phosphofurin acidic cluster sorting protein 2																																				SO:0001651	inframe_deletion	23241	0	0					g.chr14:105818795_105818797delCTC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.288_290delCTC	chr14.hg19:g.105818795_105818797delCTC	ENSP00000321834:p.Ser97del	1		OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000447393.1_In_Frame_Del_p.S97del|PACS2_ENST00000430725.2_In_Frame_Del_p.S30del|PACS2_ENST00000458164.2_In_Frame_Del_p.S97del|PACS2_ENST00000547217.1_Intron	p.S97del			0	1	1	1.824587	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	3	792_794	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	In_Frame_Del	DEL	ENST00000325438.8	1	1	hg19	c.288_290delCTC	CCDS32168.1	1																																																																																								0.162791		TCGA-FB-A5VM-01A-11D-A32N-08	0.616	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	1	0	1		43	2		0	0	0	6	115	0	115	119	1	1.920000	-20.000000	1	0.280000	XM_377355		0	72	103	0	437	453	0	0	1	1		0	0	115	0	0	0.999735	1		14	0	733	0	72	437
TP53	7157	broad.mit.edu	37	17	7579585	7579585	+	Frame_Shift_Del	DEL	G	G	-	rs11575998		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:7579585delG	ENST00000269305.4	-	4	291	c.102delC	c.(100-102)cccfs	p.P34fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P34fs	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	34	Interaction with HRMT1L2.|Transcription activation (acidic).		P -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(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)	GGGACGGCAAGGGGGACTGTA	0.597		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	0.810000	0.580000	0.760000	0.630000	0.690000	0.699908	0.690000	0.690000		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		16	Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(1)|Insertion - Frameshift(1)	p.0?(8)|p.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(1)	upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|breast(2)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	24185						c.(100-102)cccfs	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						148.0	144.0	145.0					17																	7579585		2203	4300	6503	SO:0001589	frameshift_variant	7157	0	0		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.chr17:7579585delG	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.102delC	chr17.hg19:g.7579585delG	ENSP00000269305:p.Pro34fs	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_Frame_Shift_Del_p.P34fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P34fs	p.P34fs	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	1.767176	P04637	P53_HUMAN		4	291	-		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	Frame_Shift_Del	DEL	ENST00000269305.4	1	0	hg19	c.102delC	CCDS11118.1	0																																																																																								0.172223		TCGA-FB-A5VM-01A-11D-A32N-08	0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		96	2	2	0	0	0	19	272	0	272	268	1	1.920000	-20.000000	1	0.280000	NM_000546		0	122	157	0	963	948	0	0	1	1	1	0	0	272	316	0	0.980472	9.417375e-01	1	7	106	32	704	122	963
ZNF470	388566	broad.mit.edu	37	19	57089013	57089014	+	In_Frame_Ins	INS	-	-	TAA			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:57089013_57089014insTAA	ENST00000330619.8	+	6	1902_1903	c.1216_1217insTAA	c.(1216-1218)ttc>tTAAtc	p.406_406F>LI	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_In_Frame_Ins_p.406_406F>LI	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	406					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)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGGGAAGGCTTTCACTGATCAC	0.426																																						ENST00000330619.8	1.000000	0.320000	0.600000	0.390000	0.480000	0.520363	0.480000	0.470000																										0				41						c.(1216-1218)ttc>tTAAtc		zinc finger protein 470																																				SO:0001652	inframe_insertion	388566	0	0					g.chr19:57089013_57089014insTAA	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		Exception_encountered	chr19.hg19:g.57089013_57089014insTAA	ENSP00000333223:p.Phe406delinsLeuIle	0					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_In_Frame_Ins_p.406_406F>LI	p.406_406F>LI	NM_001001668.3	NP_001001668.3	1	2	3	2.065357	Q6ECI4	ZN470_HUMAN		6	1902_1903	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	In_Frame_Ins	INS	ENST00000330619.8	0	1	hg19	c.1216_1217insTAA	CCDS33122.1	0																																																																																								0.288959		TCGA-FB-A5VM-01A-11D-A32N-08	0.426	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	1	0	1		2	2		0	0	0	0	85	0	85	83	1	1.920000	-20.000000	1	0.280000	NM_001001668		0	29	40	0	416	413	0	0	1	0		0	0	85	0	0	1.000000	1.327021e-02		0	0	3	0	29	416
DUPD1	338599	broad.mit.edu	37	10	76797813	76797813	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:76797813G>A	ENST00000338487.5	-	3	443	c.444C>T	c.(442-444)gtC>gtT	p.V148V		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	148	Substrate binding. {ECO:0000305}.|Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGCGGCCCATGACGCAGTGAA	0.617																																						ENST00000338487.5	1.000000	0.650000	1.000000	0.750000	0.870000	0.876315	0.870000	1.000000																										0				11						c.(442-444)gtC>gtT		dual specificity phosphatase and pro isomerase domain containing 1							59.0	52.0	54.0					10																	76797813		2203	4300	6503	SO:0001819	synonymous_variant	338599	0	0					g.chr10:76797813G>A		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.444C>T	chr10.hg19:g.76797813G>A		0						p.V148V	NM_001003892.1	NP_001003892.1	0	0	0	1.993227	Q68J44	DUPD1_HUMAN		3	443	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		B2RP93	Silent	SNP	ENST00000338487.5	1	1	hg19	c.444C>T	CCDS31223.1	1																																																																																								0.267697		TCGA-FB-A5VM-01A-11D-A32N-08	0.617	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	1	0	1	2	2	2	2	0	0	0	0	58	58	58	58	1	1.920000	-20.000000	1	0.280000	XM_291741		0	41	40	0	285	283	1		1			0	0	58	0	0	1.000000	0	0	0	0	0	0	41	285
IGSF22	283284	broad.mit.edu	37	11	18736985	18736985	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:18736985C>G	ENST00000513874.1	-	11	1664	c.1525G>C	c.(1525-1527)Gtg>Ctg	p.V509L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	509										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTACCCTCCACAGTGACGATG	0.547																																						ENST00000513874.1	1.000000	0.730000	1.000000	0.830000	0.930000	0.922873	0.930000	1.000000																										0				56						c.(1525-1527)Gtg>Ctg		immunoglobulin superfamily, member 22							114.0	116.0	116.0					11																	18736985		2152	4249	6401	SO:0001583	missense	283284	0	0					g.chr11:18736985C>G	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1525G>C	chr11.hg19:g.18736985C>G	ENSP00000421191:p.Val509Leu	0					RP11-1081L13.4_ENST00000527285.1_RNA	p.V509L	NM_173588.3	NP_775859	1	2	3	2.044068	Q8N9C0	IGS22_HUMAN		11	1664	-			A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	1	1	hg19	c.1525G>C	CCDS41625.2	1	.	.	.	.	.	.	.	.	.	.	C	1.041	-0.678902	0.03378	.	.	ENSG00000179057	ENST00000513874	T	0.13307	2.6	4.92	2.03	0.26663	4.92	2.03	0.26663	.	0.203922	0.24126	N	0.041315	T	0.11110	0.0271	L	0.50333	1.59	0.19945	N	0.999945	B	0.34015	0.435	B	0.24974	0.057	T	0.14615	-1.0466	10	0.62326	D	0.03	.	8.4726	0.32995	0.0:0.7586:0.0:0.2414	.	509	D6RGV7	.	L	509	ENSP00000421191:V509L	ENSP00000322422:V509L	V	-	1	0	0	IGSF22	18693561	18693561	0.998000	0.40836	0.291000	0.24904	0.028000	0.11728	2.788000	0.47806	0.143000	0.18926	0.555000	0.69702	GTG	0.285005		TCGA-FB-A5VM-01A-11D-A32N-08	0.547	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	1	0	1	2	2	2	2	0	0	0	0	125	125	125	124	1	1.920000	-20.000000	1	0.280000	NM_173588		0	69	69	0	463	447	1		1			0	0	125	0	0	1.000000	0	0	0	0	0	0	69	463
ANO5	203859	broad.mit.edu	37	11	22281145	22281145	+	Silent	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:22281145A>G	ENST00000324559.8	+	15	1805	c.1488A>G	c.(1486-1488)gaA>gaG	p.E496E	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	496					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTCATGGAAAGTGATGCAT	0.413																																						ENST00000324559.8	1.000000	0.580000	0.970000	0.690000	0.810000	0.823427	0.810000	1.000000																										0				63						c.(1486-1488)gaA>gaG		anoctamin 5							228.0	196.0	207.0					11																	22281145		2203	4300	6503	SO:0001819	synonymous_variant	203859	0	0					g.chr11:22281145A>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1488A>G	chr11.hg19:g.22281145A>G		0					CTD-3064C13.1_ENST00000526935.1_RNA	p.E496E	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	1	2	3	2.044068	Q75V66	ANO5_HUMAN		15	1805	+				Silent	SNP	ENST00000324559.8	1	1	hg19	c.1488A>G	CCDS31444.1	0																																																																																								0.285005		TCGA-FB-A5VM-01A-11D-A32N-08	0.413	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	1	0	1	2	2	2	2	0	0	0	0	58	58	58	57	1	1.920000	-14.955220	1	0.280000	NM_213599		0	37	38	0	291	287	0		1			0	0	58	0	0	1.000000	0	0	0	0	0	0	37	291
FBXO3	26273	broad.mit.edu	37	11	33763529	33763529	+	Silent	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763529T>C	ENST00000265651.3	-	11	1359	c.1341A>G	c.(1339-1341)gaA>gaG	p.E447E	FBXO3_ENST00000532057.1_Silent_p.E134E|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Silent_p.E334E|FBXO3_ENST00000531080.1_Silent_p.E134E	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	447	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CTTCATCATCTTCATCTGATT	0.478																																						ENST00000265651.3	1.000000	0.680000	1.000000	0.820000	0.980000	0.931675	0.980000	1.000000																										0				13						c.(1339-1341)gaA>gaG		F-box protein 3							211.0	161.0	177.0					11																	33763529		2202	4298	6500	SO:0001819	synonymous_variant	26273	0	0					g.chr11:33763529T>C	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1341A>G	chr11.hg19:g.33763529T>C		0					FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Silent_p.E334E|FBXO3_ENST00000532057.1_Silent_p.E134E|FBXO3_ENST00000531080.1_Silent_p.E134E	p.E447E	NM_012175.3	NP_036307.2	1	2	3	2.044068	Q9UK99	FBX3_HUMAN		11	1359	-		Lung NSC(402;0.0804)	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	1	1	hg19	c.1341A>G	CCDS7887.1	1																																																																																								0.285005		TCGA-FB-A5VM-01A-11D-A32N-08	0.478	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	1	0	1	2	2	2	2	0	0	0	0	36	36	36	35	1	1.920000	-14.692590	1	0.280000	NM_012175		0	29	29	0	184	179	1		1	1		0	0	36	0	0	1.000000	9.737808e-01	0	11	0	29	0	29	184
FBXO3	26273	broad.mit.edu	37	11	33763531	33763531	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763531C>T	ENST00000265651.3	-	11	1357	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Missense_Mutation_p.E334K|FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	447	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCATCATCTTCATCTGATTCA	0.483																																						ENST00000265651.3	1.000000	0.680000	1.000000	0.820000	0.990000	0.932196	0.990000	1.000000																										0				13						c.(1339-1341)Gaa>Aaa		F-box protein 3							211.0	161.0	178.0					11																	33763531		2202	4298	6500	SO:0001583	missense	26273	0	0					g.chr11:33763531C>T	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1339G>A	chr11.hg19:g.33763531C>T	ENSP00000265651:p.Glu447Lys	0					FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Missense_Mutation_p.E334K|FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K|FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K	p.E447K	NM_012175.3	NP_036307.2	1	2	3	2.044068	Q9UK99	FBX3_HUMAN		11	1357	-		Lung NSC(402;0.0804)	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	1	1	hg19	c.1339G>A	CCDS7887.1	1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476081	0.63737	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.143577	0.32372	N	0.006184	T	0.71609	0.3360	N	0.14661	0.345	0.80722	D	1	P	0.46578	0.88	P	0.62184	0.899	T	0.76759	-0.2841	10	0.66056	D	0.02	-6.8063	15.9536	0.79861	0.0:1.0:0.0:0.0	.	447	Q9UK99	FBX3_HUMAN	K	334;447;134;134	ENSP00000435680:E334K;ENSP00000265651:E447K;ENSP00000435165:E134K;ENSP00000434001:E134K	ENSP00000265651:E447K	E	-	1	0	0	FBXO3	33720107	33720107	0.999000	0.42202	0.999000	0.59377	0.978000	0.69477	4.196000	0.58407	2.339000	0.79563	0.561000	0.74099	GAA	0.285005		TCGA-FB-A5VM-01A-11D-A32N-08	0.483	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	1	0	1	2	2	2	2	0	0	0	0	37	37	37	35	1	1.920000	-20.000000	1	0.280000	NM_012175		0	28	28	0	177	172	1		1	1		0	0	37	0	0	1.000000	9.739817e-01	0	11	0	29	0	28	177
OR5M3	219482	broad.mit.edu	37	11	56237570	56237570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:56237570G>C	ENST00000312240.2	-	1	444	c.404C>G	c.(403-405)tCa>tGa	p.S135*		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GACAACCCTTGACATTTTACT	0.408																																						ENST00000312240.2	1.000000	0.040000	0.140000	0.060000	0.090000	0.137372	0.090000	0.090000																										0				37						c.(403-405)tCa>tGa		olfactory receptor, family 5, subfamily M, member 3							95.0	89.0	91.0					11																	56237570		2201	4290	6491	SO:0001587	stop_gained	219482	0	0					g.chr11:56237570G>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.404C>G	chr11.hg19:g.56237570G>C	ENSP00000312208:p.Ser135*	0						p.S135*	NM_001004742.2	NP_001004742.2	1	2	3	2.044068	Q8NGP4	OR5M3_HUMAN		1	444	-	Esophageal squamous(21;0.00448)		B2RNM7|Q6IEW4|Q96RC0	Nonsense_Mutation	SNP	ENST00000312240.2	0	1	hg19	c.404C>G	CCDS31532.1	0	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502469	0.64298	.	.	ENSG00000174937	ENST00000312240	.	.	.	5.13	4.15	0.48705	5.13	4.15	0.48705	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6464	11.3494	0.49579	0.0:0.0:0.692:0.308	.	.	.	.	X	135	.	ENSP00000312208:S135X	S	-	2	0	0	OR5M3	55994146	55994146	0.250000	0.23951	0.977000	0.42913	0.808000	0.45660	0.644000	0.24766	2.381000	0.81170	0.478000	0.44815	TCA	0.285005		TCGA-FB-A5VM-01A-11D-A32N-08	0.408	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	0	0	1	2	2	2	2	0	0	0	0	131	131	131	131	1	1.920000	-3.144007	1	0.280000	NM_001004742		0	8	8	0	614	605	0		1			0	0	131	0	0	0.988786	0	0	0	0	0	0	8	614
GIF	2694	broad.mit.edu	37	11	59599213	59599213	+	Missense_Mutation	SNP	G	G	A	rs370902375		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:59599213G>A	ENST00000257248.2	-	8	1177	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	GIF_ENST00000541311.1_Missense_Mutation_p.A352V	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	377					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.A377V(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	AACATTTTCCGCGATATTGTT	0.368																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000257248.2	1.000000	0.570000	0.930000	0.670000	0.780000	0.799121	0.780000	1.000000																										1	Substitution - Missense(1)	p.A377V(1)	upper_aerodigestive_tract(1)	17						c.(1129-1131)gCg>gTg		gastric intrinsic factor (vitamin B synthesis)	Cyanocobalamin(DB00115)	G	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	122.0	110.0	114.0		1130	4.4	1.0	11		114	2,8588	2.2+/-6.3	0,2,4293	no	missense	GIF	NM_005142.2	64	0,3,6493	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	377/418	59599213	3,12989	2201	4295	6496	SO:0001583	missense	2694	11	121410	44				g.chr11:59599213G>A	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.1130C>T	chr11.hg19:g.59599213G>A	ENSP00000257248:p.Ala377Val	0					GIF_ENST00000541311.1_Missense_Mutation_p.A352V	p.A377V	NM_005142.2	NP_005133.2	1	2	3	2.044068	P27352	IF_HUMAN		8	1177	-			B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	1	1	hg19	c.1130C>T	CCDS7977.1	0	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111534	0.20714	2.27E-4	2.33E-4	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.42131	1.09;0.98	5.41	4.41	0.53225	5.41	4.41	0.53225	.	0.412532	0.22845	N	0.054935	T	0.28234	0.0697	L	0.53249	1.67	0.20821	N	0.999847	P	0.43909	0.821	B	0.17098	0.017	T	0.35076	-0.9803	10	0.25751	T	0.34	-10.6094	12.1115	0.53842	0.0:0.0:0.8172:0.1828	.	377	P27352	IF_HUMAN	V	377;352	ENSP00000257248:A377V;ENSP00000440427:A352V	ENSP00000257248:A377V	A	-	2	0	0	GIF	59355789	59355789	0.563000	0.26594	0.980000	0.43619	0.764000	0.43329	1.685000	0.37659	2.532000	0.85374	0.655000	0.94253	GCG	0.285005		TCGA-FB-A5VM-01A-11D-A32N-08	0.368	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	1	0	1	2	2	2	2	0	0	0	0	66	66	66	65	1	1.920000	-14.895970	1	0.280000	NM_005142		0	40	37	0	327	323	1		1			0	0	66	0	0	1.000000	0	0	0	0	0	0	40	327
PLCB3	5331	broad.mit.edu	37	11	64026576	64026576	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:64026576G>A	ENST00000540288.1	+	13	1488	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	462	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTGATGGGCCGTATCCTGGTG	0.706																																						ENST00000540288.1	1.000000	0.070000	0.380000	0.140000	0.230000	0.282359	0.230000	0.210000																										0				33						c.(1384-1386)cGt>cAt		phospholipase C, beta 3 (phosphatidylinositol-specific)							17.0	23.0	21.0					11																	64026576		2200	4296	6496	SO:0001583	missense	5331	0	0					g.chr11:64026576G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1385G>A	chr11.hg19:g.64026576G>A	ENSP00000443631:p.Arg462His	0					PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H	p.R462H	NM_000932.2	NP_000923.1	1	2	3	2.044068	Q01970	PLCB3_HUMAN		13	1488	+			A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	0	1	hg19	c.1385G>A	CCDS8064.1	0	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196608	0.79015	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.66995	-0.24;-0.24;-0.24	4.58	4.58	0.56647	4.58	4.58	0.56647	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.123452	0.53938	D	0.000042	T	0.74230	0.3689	M	0.77486	2.375	0.45464	D	0.998435	D;D	0.63880	0.993;0.979	P;P	0.53593	0.73;0.697	T	0.78178	-0.2305	10	0.87932	D	0	.	9.9241	0.41481	0.0964:0.0:0.9036:0.0	.	395;462	G5E960;Q01970	.;PLCB3_HUMAN	H	462;462;395	ENSP00000279230:R462H;ENSP00000443631:R462H;ENSP00000324660:R395H	ENSP00000279230:R462H	R	+	2	0	0	PLCB3	63783152	63783152	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	4.876000	0.63079	2.111000	0.64477	0.561000	0.74099	CGT	0.285005		TCGA-FB-A5VM-01A-11D-A32N-08	0.706	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1	0	0	1	2	2	2	2	0	0	0	0	36	36	36	36	1	1.920000	-3.538875	1	0.280000			0	4	4	0	133	133	0		1	0		0	0	36	0	0	0.891499	2.668729e-01	0	0	0	28	0	4	133
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.Q61H(153)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.650000	1.000000	0.770000	0.910000	0.896985	0.910000	1.000000	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	153	Substitution - Missense(153)	p.Q61H(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	25349						c.(181-183)caA>caC		Kirsten rat sarcoma viral oncogene homolog							109.0	98.0	102.0					12																	25380275		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.chr12:25380275T>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.183A>C	chr12.hg19:g.25380275T>G	ENSP00000256078:p.Gln61His	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H	p.Q61H	NM_033360.2	NP_203524.1	0	0	0	2.006247	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)	3	246	-	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.183A>C	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	2	KRAS	25271542	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA	0.271845		TCGA-FB-A5VM-01A-11D-A32N-08	0.423	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	57	57	57	57	1	1.920000	-20.000000	1	0.280000	NM_033360		1302	35	35	6692	235	230	1	1	1	1	1	0	0	57	610	1	1.000000	5.646846e-01	1	6	32	8	301	35	235
RBM19	9904	broad.mit.edu	37	12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T	rs201979395		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000392561.3_Missense_Mutation_p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622																																						ENST00000545145.2	0.200000	0.040000	0.150000	0.070000	0.100000	0.116699	0.100000	0.100000																										0				55						c.(1906-1908)cGc>cAc		RNA binding motif protein 19		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	47.0	53.0	51.0		1907,1907,1907	2.4	1.0	12		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	636/961,636/961,636/961	114377796	1,13005	2203	4300	6503	SO:0001583	missense	9904	0	0					g.chr12:114377796C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1907G>A	chr12.hg19:g.114377796C>T	ENSP00000442053:p.Arg636His	0					RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RBM19_ENST00000392561.3_Missense_Mutation_p.R636H	p.R636H	NM_001146699.1	NP_001140171.1	0	0	0	2.006247	Q9Y4C8	RBM19_HUMAN		15	1985	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	0	1	hg19	c.1907G>A	CCDS9172.1	0	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745338	0.69418	0.0	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.09073	3.02;3.02;3.02	4.3	2.42	0.29668	4.3	2.42	0.29668	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.185022	0.44483	N	0.000448	T	0.19805	0.0476	M	0.65320	2	0.39781	D	0.972299	D	0.71674	0.998	D	0.68353	0.957	T	0.01146	-1.1437	10	0.87932	D	0	-11.8564	6.7325	0.23390	0.0:0.5626:0.0:0.4373	.	636	Q9Y4C8	RBM19_HUMAN	H	636	ENSP00000442053:R636H;ENSP00000376344:R636H;ENSP00000261741:R636H	ENSP00000261741:R636H	R	-	2	0	0	RBM19	112862179	112862179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.445000	0.66594	0.820000	0.34516	0.561000	0.74099	CGC	0.271845		TCGA-FB-A5VM-01A-11D-A32N-08	0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	0	0	1	2	2	2	2	0	0	0	0	112	112	112	111	1	1.920000	-1.905563	0	0.280000	NM_016196		0	8	8	0	532	530	0		1	0		0	0	112	0	0	0.989299	1.080334e-01	0	0	0	33	0	8	532
RGMA	56963	broad.mit.edu	37	15	93595475	93595475	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:93595475C>T	ENST00000329082.7	-	3	664	c.393G>A	c.(391-393)ccG>ccA	p.P131P	RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000425933.2_Silent_p.P115P	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	131					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGTCTCCGGCCGGTGGGAGCG	0.647																																						ENST00000329082.7	1.000000	0.670000	1.000000	0.780000	0.900000	0.896329	0.900000	1.000000																										0				9						c.(391-393)ccG>ccA		repulsive guidance molecule family member a							38.0	47.0	44.0					15																	93595475		2190	4294	6484	SO:0001819	synonymous_variant	56963	2	121328	37				g.chr15:93595475C>T	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.393G>A	chr15.hg19:g.93595475C>T		0					RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000425933.2_Silent_p.P115P|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000557420.1_Intron	p.P131P	NM_020211.2	NP_064596	1	2	3	2.039741	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)	3	664	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	ENST00000329082.7	1	1	hg19	c.393G>A	CCDS45357.1	1																																																																																								0.285005		TCGA-FB-A5VM-01A-11D-A32N-08	0.647	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	1	0	1	2	2	2	2	0	0	0	0	97	97	97	96	1	1.920000	-3.221921	1	0.280000	NM_020211		0	47	47	0	328	322	1		1	0		0	0	97	0	0	1.000000	1.650457e-02	0	0	0	2	0	47	328
FLYWCH1	84256	broad.mit.edu	37	16	2979735	2979735	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:2979735G>A	ENST00000253928.9	+	3	454	c.49G>A	c.(49-51)Ggc>Agc	p.G17S	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.G17S			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	17						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						TGTGAAGGCCGGCCAGGAGCC	0.692																																						ENST00000253928.9	0.430000	0.060000	0.310000	0.120000	0.200000	0.223543	0.200000	0.180000																										0				4						c.(49-51)Ggc>Agc		FLYWCH-type zinc finger 1							37.0	44.0	41.0					16																	2979735		2198	4299	6497	SO:0001583	missense	84256	14	121390	43				g.chr16:2979735G>A	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.49G>A	chr16.hg19:g.2979735G>A	ENSP00000253928:p.Gly17Ser	1					FLYWCH1_ENST00000399667.2_Missense_Mutation_p.G17S|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S	p.G17S			0	1	1	1.751874	Q4VC44	FWCH1_HUMAN		3	454	+			D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	0	1	hg19	c.49G>A		0	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329821	0.24167	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.01	2.04	0.26737	3.01	2.04	0.26737	.	.	.	.	.	T	0.15609	0.0376	N	0.19112	0.55	0.24293	N	0.995159	B;P	0.39060	0.105;0.657	B;B	0.32677	0.018;0.15	T	0.10042	-1.0647	8	0.38643	T	0.18	.	6.03	0.19675	0.1435:0.0:0.8565:0.0	.	17;17	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	S	17	.	ENSP00000253928:G17S	G	+	1	0	0	FLYWCH1	2919736	2919736	0.537000	0.26386	0.679000	0.29978	0.109000	0.19521	0.577000	0.23758	0.844000	0.35094	0.456000	0.33151	GGC	0.162791		TCGA-FB-A5VM-01A-11D-A32N-08	0.692	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	0	0	1	2	2	2	2	0	0	0	0	34	34	34	34	1	1.920000	-6.741605	1	0.280000	NM_032296		0	4	4	0	126	124	0		1	0		0	0	34	0	0	0.887878	6.917223e-02	0	0	0	11	0	4	126
SEPHS2	22928	broad.mit.edu	37	16	30455811	30455811	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:30455811G>A	ENST00000478753.2	-	1	1691	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M|SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	413					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GATCCGGGCCGTTCGGTTTCC	0.537																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2	1.000000	0.030000	0.170000	0.060000	0.100000	0.151247	0.100000	0.100000																										0				10						c.(1237-1239)aCg>aTg		selenophosphate synthetase 2							71.0	74.0	73.0					16																	30455811		1990	4148	6138	SO:0001583	missense	22928	0	0					g.chr16:30455811G>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1238C>T	chr16.hg19:g.30455811G>A	ENSP00000418669:p.Thr413Met	0					SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M|SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M	p.T413M			1	2	3	2.039724	Q99611	SPS2_HUMAN		1	1691	-			Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	0	1	hg19	c.1238C>T		0	.	.	.	.	.	.	.	.	.	.	G	7.619	0.676333	0.14841	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.18174	2.23;2.23;2.23	5.28	4.32	0.51571	5.28	4.32	0.51571	AIR synthase-related protein, C-terminal (2);	0.239370	0.39834	N	0.001245	T	0.18882	0.0453	L	0.61387	1.9	0.80722	D	1	P;B	0.42039	0.769;0.091	B;B	0.36186	0.219;0.082	T	0.03268	-1.1054	10	0.48119	T	0.1	-14.479	14.0137	0.64513	0.0:0.1527:0.8473:0.0	.	413;356	Q99611;F5H8F9	SPS2_HUMAN;.	M	413;356;364;413	ENSP00000418669:T413M;ENSP00000443601:T356M;ENSP00000426234:T413M	ENSP00000390233:T364M	T	-	2	0	0	SEPHS2	30363312	30363312	1.000000	0.71417	0.880000	0.34516	0.045000	0.14185	4.815000	0.62634	1.361000	0.45981	-0.176000	0.13171	ACG	0.285005		TCGA-FB-A5VM-01A-11D-A32N-08	0.537	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	0	0	0	2	2	2	8	0	0	0	0	67	67	67	67	1	1.920000	-5.034304	1	0.280000	NM_012248		0	5	6	0	357	349	0		1	0	0	0	1	67	455	0	0.934703	9.342221e-01	7.709763e-01	0	0	354	741	5	357
PHKB	5257	broad.mit.edu	37	16	47683068	47683068	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:47683068G>A	ENST00000323584.5	+	18	1774	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000299167.8_Missense_Mutation_p.D584N|PHKB_ENST00000455779.1_Missense_Mutation_p.D577N	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	584					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CGACCTAAGTGATTTCTACAT	0.343																																						ENST00000323584.5	1.000000	0.740000	1.000000	0.850000	0.970000	0.943014	0.970000	1.000000																										0				41						c.(1750-1752)Gat>Aat		phosphorylase kinase, beta							171.0	160.0	164.0					16																	47683068		2201	4300	6501	SO:0001583	missense	5257	0	0					g.chr16:47683068G>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1750G>A	chr16.hg19:g.47683068G>A	ENSP00000313504:p.Asp584Asn	0					PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000299167.8_Missense_Mutation_p.D584N|PHKB_ENST00000455779.1_Missense_Mutation_p.D577N	p.D584N	NM_000293.2	NP_000284.1	1	2	3	2.039724	Q93100	KPBB_HUMAN		18	1774	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	1	1	hg19	c.1750G>A	CCDS10729.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.512079	0.96402	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91180	-2.8;-2.8	5.89	5.89	0.94794	5.89	5.89	0.94794	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95278	0.8383	10	0.59425	D	0.04	-29.7077	19.8459	0.96707	0.0:0.0:1.0:0.0	.	584;577	Q93100;Q93100-4	KPBB_HUMAN;.	N	577;577;584	ENSP00000414345:D577N;ENSP00000313504:D584N	ENSP00000299167:D577N	D	+	1	0	0	PHKB	46240569	46240569	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.037000	0.93765	2.788000	0.95919	0.585000	0.79938	GAT	0.285005		TCGA-FB-A5VM-01A-11D-A32N-08	0.343	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1	1	0	1	2	2	2	2	0	0	0	0	63	63	63	63	1	1.920000	-3.319021	1	0.280000			0	53	54	0	338	337	1		1	1		0	0	63	0	0	1.000000	3.548848e-01	0	3	0	6	0	53	338
PARD6A	50855	broad.mit.edu	37	16	67695975	67695975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:67695975C>T	ENST00000219255.3	+	3	546	c.466C>T	c.(466-468)Cga>Tga	p.R156*	ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126*|PARD6A_ENST00000458121.2_Nonsense_Mutation_p.R155*|ACD_ENST00000219251.8_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	156	Interaction with PARD3 and CDC42. {ECO:0000250}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGAGACCCACCGACGGGTGCG	0.647																																						ENST00000219255.3	1.000000	0.720000	1.000000	0.820000	0.930000	0.921165	0.930000	1.000000																										0				6						c.(466-468)Cga>Tga		par-6 family cell polarity regulator alpha							64.0	67.0	66.0					16																	67695975		2198	4300	6498	SO:0001587	stop_gained	50855	0	0					g.chr16:67695975C>T		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.466C>T	chr16.hg19:g.67695975C>T	ENSP00000219255:p.Arg156*	0					ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126*|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000458121.2_Nonsense_Mutation_p.R155*	p.R156*			1	2	3	2.057540	Q9NPB6	PAR6A_HUMAN		3	546	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	O14911|Q9NPJ7	Nonsense_Mutation	SNP	ENST00000219255.3	0	1	hg19	c.466C>T	CCDS10843.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342839	0.82022	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	.	.	.	5.07	4.1	0.47936	5.07	4.1	0.47936	.	0.073470	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4892	11.7101	0.51620	0.3209:0.6791:0.0:0.0	.	.	.	.	X	155;156	.	ENSP00000219255:R156X	R	+	1	2	2	PARD6A	66253476	66253476	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.149000	0.42244	1.091000	0.41335	0.563000	0.77884	CGA	0.287975		TCGA-FB-A5VM-01A-11D-A32N-08	0.647	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	1	0	1	2	2	2	2	0	0	0	0	109	109	109	108	1	1.920000	-3.075766	1	0.280000	NM_016948		0	62	62	0	420	415	1		1	1		0	0	109	0	0	1.000000	6.946017e-01	0	3	0	15	0	62	420
LLGL1	3996	broad.mit.edu	37	17	18138848	18138848	+	Missense_Mutation	SNP	C	C	T	rs141275484		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:18138848C>T	ENST00000316843.4	+	11	1445	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	450					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CTGCTGCTGACGGGGTAGGTG	0.652																																						ENST00000316843.4	0.230000	0.030000	0.170000	0.060000	0.100000	0.118915	0.100000	0.100000																										0				21						c.(1348-1350)aCg>aTg		lethal giant larvae homolog 1 (Drosophila)		C	MET/THR	0,4406		0,0,2203	93.0	80.0	84.0		1349	5.0	1.0	17	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	LLGL1	NM_004140.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	450/1065	18138848	1,13005	2203	4300	6503	SO:0001583	missense	3996	2	121404	32				g.chr17:18138848C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1349C>T	chr17.hg19:g.18138848C>T	ENSP00000321537:p.Thr450Met	1						p.T450M	NM_004140.3	NP_004131	0	1	1	1.780231	Q15334	L2GL1_HUMAN		11	1445	+	all_neural(463;0.228)		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	0	1	hg19	c.1349C>T	CCDS32586.1	0	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090348	0.76756	0.0	1.16E-4	ENSG00000131899	ENST00000316843	T	0.33216	1.42	5.01	5.01	0.66863	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.090164	0.85682	D	0.000000	T	0.66867	0.2833	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76094	-0.3085	10	0.87932	D	0	-27.9792	17.6696	0.88213	0.0:1.0:0.0:0.0	.	450	Q15334	L2GL1_HUMAN	M	450	ENSP00000321537:T450M	ENSP00000321537:T450M	T	+	2	0	0	LLGL1	18079573	18079573	1.000000	0.71417	0.963000	0.40424	0.227000	0.25037	7.487000	0.81328	2.776000	0.95493	0.650000	0.86243	ACG	0.162791		TCGA-FB-A5VM-01A-11D-A32N-08	0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	0	0	1	2	2	2	2	0	0	0	0	67	67	67	67	1	1.920000	-5.130001	1	0.280000			0	4	4	0	247	242	0		1	0		0	0	67	0	0	0.886315	1.171722e-02	0	0	0	8	0	4	247
TAOK1	57551	broad.mit.edu	37	17	27807459	27807459	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:27807459A>T	ENST00000261716.3	+	7	1042	c.523A>T	c.(523-525)Atg>Ttg	p.M175L	TAOK1_ENST00000536202.1_Missense_Mutation_p.M175L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTCTGCTTCCATGGCATCACC	0.418																																						ENST00000261716.3	1.000000	0.060000	0.330000	0.110000	0.190000	0.261635	0.190000	0.170000																										0				28						c.(523-525)Atg>Ttg		TAO kinase 1							106.0	92.0	96.0					17																	27807459		2203	4300	6503	SO:0001583	missense	57551	0	0					g.chr17:27807459A>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.523A>T	chr17.hg19:g.27807459A>T	ENSP00000261716:p.Met175Leu	0					TAOK1_ENST00000536202.1_Missense_Mutation_p.M175L	p.M175L	NM_020791.2	NP_065842.1	1	2	3	2.067579	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)	7	1042	+			A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	0	1	hg19	c.523A>T	CCDS32601.1	0	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610191	0.46527	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.63417	-0.04;-0.04	5.21	5.21	0.72293	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081007	0.85682	D	0.000000	T	0.39226	0.1070	N	0.02973	-0.45	0.42825	D	0.994006	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.001	T	0.27640	-1.0068	10	0.31617	T	0.26	.	15.3559	0.74425	1.0:0.0:0.0:0.0	.	175;1;175	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	L	175	ENSP00000261716:M175L;ENSP00000438819:M175L	ENSP00000261716:M175L	M	+	1	0	0	TAOK1	24831585	24831585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.169000	0.77578	2.100000	0.63781	0.477000	0.44152	ATG	0.288959		TCGA-FB-A5VM-01A-11D-A32N-08	0.418	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	0	0	0	2	2	2	2	0	0	0	0	35	35	35	34	1	1.920000	-6.453829	1	0.280000	NM_020791		0	4	1	0	169	169	0		0			0	0	35	0	0	0.887186	0	0	0	0	0	0	4	169
WSCD1	23302	broad.mit.edu	37	17	5984019	5984019	+	Missense_Mutation	SNP	G	G	A	rs148296936	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:5984019G>A	ENST00000574946.1	+	2	431	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	14						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TTTCTCCGCCGAACACAGTTC	0.672																																						ENST00000574946.1	0.260000	0.030000	0.190000	0.070000	0.110000	0.132228	0.110000	0.110000																										0				35						c.(40-42)cGa>cAa		WSC domain containing 1			GLN/ARG	0,4246		0,0,2123	41.0	40.0	40.0		41	4.8	1.0	17	dbSNP_134	40	2,8236		0,2,4117	yes	missense	WSCD1	NM_015253.1	43	0,2,6240	AA,AG,GG		0.0243,0.0,0.016	probably-damaging	14/576	5984019	2,12482	2123	4119	6242	SO:0001583	missense	23302	25	121070	45				g.chr17:5984019G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.41G>A	chr17.hg19:g.5984019G>A	ENSP00000460825:p.Arg14Gln	1					WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q	p.R14Q			0	1	1	1.767176	Q658N2	WSCD1_HUMAN		2	431	+			A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	0	1	hg19	c.41G>A	CCDS32538.1	0	.	.	.	.	.	.	.	.	.	.	g	31	5.082163	0.94050	0.0	2.43E-4	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.85955	-2.05;-2.05	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000008	D	0.89550	0.6747	L	0.47190	1.495	0.36291	D	0.856398	D	0.89917	1.0	D	0.76575	0.988	D	0.92691	0.6166	10	0.87932	D	0	-12.0492	15.3569	0.74434	0.0:0.0:1.0:0.0	.	14	Q658N2	WSCD1_HUMAN	Q	14	ENSP00000323087:R14Q;ENSP00000446032:R14Q	ENSP00000323087:R14Q	R	+	2	0	0	WSCD1	5924743	5924743	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	6.190000	0.72057	2.203000	0.70933	0.552000	0.68991	CGA	0.172223		TCGA-FB-A5VM-01A-11D-A32N-08	0.672	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	0	0	1	2	15	2	2	1	1	1	1	52	52	52	52	1	1.920000	-3.858104	1	0.280000	NM_015253		0	4	4	0	224	223	0		0	0		1	0	52	0	0	0.007987	0	0	0	0	1	0	4	224
XYLT2	64132	broad.mit.edu	37	17	48431870	48431870	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:48431870G>A	ENST00000017003.2	+	3	779	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	XYLT2_ENST00000507602.1_Missense_Mutation_p.A244T	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	244					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCACGGCCGCGCCATCCGCCA	0.612																																						ENST00000017003.2	1.000000	0.060000	0.290000	0.100000	0.170000	0.243598	0.170000	0.150000																										0				12						c.(730-732)Gcc>Acc		xylosyltransferase II							44.0	43.0	44.0					17																	48431870		2203	4300	6503	SO:0001583	missense	64132	0	0					g.chr17:48431870G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.730G>A	chr17.hg19:g.48431870G>A	ENSP00000017003:p.Ala244Thr	0					XYLT2_ENST00000507602.1_Missense_Mutation_p.A244T	p.A244T	NM_022167.2	NP_071450.2	1	2	3	2.063493	Q9H1B5	XYLT2_HUMAN		3	779	+	Breast(11;7.18e-19)		Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	0	1	hg19	c.730G>A	CCDS11563.1	0	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813933	0.90790	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11169	2.8;2.8	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.31081	-0.9956	10	0.54805	T	0.06	-17.8105	17.6496	0.88159	0.0:0.0:1.0:0.0	.	244	Q9H1B5	XYLT2_HUMAN	T	244	ENSP00000017003:A244T;ENSP00000426501:A244T	ENSP00000017003:A244T	A	+	1	0	0	XYLT2	45786869	45786869	1.000000	0.71417	0.919000	0.36401	0.568000	0.35870	9.411000	0.97342	2.403000	0.81681	0.313000	0.20887	GCC	0.288959		TCGA-FB-A5VM-01A-11D-A32N-08	0.612	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	0	0	1	2	2	2	2	0	0	0	0	47	47	47	46	1	1.920000	-6.312877	1	0.280000	NM_022167		0	5	5	0	226	226	0		1	0		0	0	47	0	0	0.938216	6.786375e-02	0	0	0	16	0	5	226
ABCA10	10349	broad.mit.edu	37	17	67183986	67183986	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:67183986C>A	ENST00000269081.4	-	20	3075	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	722					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATTTCTTGTCACATGTATTT	0.348																																						ENST00000269081.4	1.000000	0.730000	1.000000	0.880000	0.990000	0.958802	0.990000	1.000000																										0				81						c.(2164-2166)gtG>gtT		ATP-binding cassette, sub-family A (ABC1), member 10							153.0	145.0	147.0					17																	67183986		2203	4300	6503	SO:0001819	synonymous_variant	10349	0	0					g.chr17:67183986C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2166G>T	chr17.hg19:g.67183986C>A		0					ABCA10_ENST00000416101.2_3'UTR	p.V722V	NM_080282.3	NP_525021.3	1	2	3	2.063493	Q8WWZ4	ABCAA_HUMAN		20	3075	-	Breast(10;6.95e-12)		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	1	1	hg19	c.2166G>T	CCDS11684.1	1																																																																																								0.288959		TCGA-FB-A5VM-01A-11D-A32N-08	0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	1	0	1	2	2	2	2	0	0	0	0	32	32	32	32	1	1.920000	-20.000000	1	0.280000	NM_080282		0	30	29	0	178	176	1		1			0	0	32	0	0	1.000000	0	0	0	0	0	0	30	178
DSG4	147409	broad.mit.edu	37	18	28991322	28991322	+	Missense_Mutation	SNP	G	G	A	rs145949758		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:28991322G>A	ENST00000308128.4	+	15	2401	c.2266G>A	c.(2266-2268)Gca>Aca	p.A756T	DSG4_ENST00000359747.4_Missense_Mutation_p.A775T|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	756					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ctcaggggccgcaAGGAAGAG	0.617																																						ENST00000308128.4	0.230000	0.030000	0.170000	0.060000	0.110000	0.122746	0.110000	0.100000																										0				70						c.(2266-2268)Gca>Aca		desmoglein 4							54.0	52.0	53.0					18																	28991322		2203	4300	6503	SO:0001583	missense	147409	0	0					g.chr18:28991322G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2266G>A	chr18.hg19:g.28991322G>A	ENSP00000311859:p.Ala756Thr	1					RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A775T	p.A756T	NM_177986.3	NP_817123.1	0	1	1	1.765013	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)	15	2401	+			A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	0	1	hg19	c.2266G>A	CCDS11897.1	0	.	.	.	.	.	.	.	.	.	.	G	4.141	0.024420	0.08054	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.87	-11.7	0.00046	5.87	-11.7	0.00046	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.09640	-1.0665	9	0.17369	T	0.5	.	0.3831	0.00398	0.351:0.2389:0.1437:0.2663	.	775;756	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	756;775	ENSP00000311859:A756T;ENSP00000352785:A775T	ENSP00000311859:A756T	A	+	1	0	0	DSG4	27245320	27245320	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.460000	0.06720	-2.897000	0.00313	-0.905000	0.02835	GCA	0.162791		TCGA-FB-A5VM-01A-11D-A32N-08	0.617	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	0	0	1	2	2	2	2	0	0	0	0	79	79	79	77	1	1.920000	-3.132460	1	0.280000	NM_177986		0	5	5	0	288	286	0		1			0	0	79	0	0	0.936938	0	0	0	0	0	0	5	288
GALNT1	2589	broad.mit.edu	37	18	33289706	33289706	+	Missense_Mutation	SNP	G	G	A	rs368892040		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:33289706G>A	ENST00000269195.5	+	11	1755	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q	GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	551	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TGGCTTCTTCGAAACGTCACC	0.453																																						ENST00000269195.5	1.000000	0.640000	0.960000	0.760000	0.870000	0.866561	0.870000	0.950000																										0				21						c.(1651-1653)cGa>cAa		polypeptide N-acetylgalactosaminyltransferase 1		G	GLN/ARG	0,4406		0,0,2203	63.0	60.0	61.0		1652	5.6	1.0	18		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT1	NM_020474.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	551/560	33289706	1,13005	2203	4300	6503	SO:0001583	missense	2589	8	121412	36				g.chr18:33289706G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1652G>A	chr18.hg19:g.33289706G>A	ENSP00000269195:p.Arg551Gln	1					GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q	p.R551Q	NM_020474.3	NP_065207.2	0	1	1	1.765013	Q10472	GALT1_HUMAN		11	1755	+			Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	1	1	hg19	c.1652G>A	CCDS11915.1	1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767083	0.49574	0.0	1.16E-4	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.78003	-1.14;-1.14	5.59	5.59	0.84812	5.59	5.59	0.84812	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	N	0.12182	0.205	0.80722	D	1	B	0.18166	0.026	B	0.06405	0.002	T	0.59558	-0.7432	10	0.41790	T	0.15	.	17.0846	0.86608	0.0:0.0:1.0:0.0	.	551	Q10472	GALT1_HUMAN	Q	551;551;491	ENSP00000269195:R551Q;ENSP00000440910:R491Q	ENSP00000269195:R551Q	R	+	2	0	0	GALNT1	31543704	31543704	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.556000	0.98127	2.622000	0.88805	0.637000	0.83480	CGA	0.162791		TCGA-FB-A5VM-01A-11D-A32N-08	0.453	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	1	0	1	2	2	2	2	0	0	0	0	40	40	40	40	1	1.920000	-20.000000	1	0.280000	NM_020474		0	29	30	0	153	153	1		1	1		0	0	40	0	0	1.000000	9.996585e-01	0	33	0	36	0	29	153
COL5A3	50509	broad.mit.edu	37	19	10071228	10071228	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:10071228C>T	ENST00000264828.3	-	67	5182	c.5097G>A	c.(5095-5097)cgG>cgA	p.R1699R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1699	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTGTCCTTTCCGGAGCTGTC	0.587																																						ENST00000264828.3	1.000000	0.870000	1.000000	0.970000	0.990000	0.987248	0.990000	1.000000																										0				116						c.(5095-5097)cgG>cgA		collagen, type V, alpha 3							93.0	101.0	98.0					19																	10071228		2203	4300	6503	SO:0001819	synonymous_variant	50509	0	0					g.chr19:10071228C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5097G>A	chr19.hg19:g.10071228C>T		0						p.R1699R	NM_015719.3	NP_056534.2	1	2	3	2.072738	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)	67	5182	-			Q9NZQ6	Silent	SNP	ENST00000264828.3	1	1	hg19	c.5097G>A	CCDS12222.1	1																																																																																								0.289941		TCGA-FB-A5VM-01A-11D-A32N-08	0.587	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1	2	2	2	2	0	0	0	0	128	128	128	127	1	1.920000	-20.000000	1	0.280000	NM_015719		0	95	95	0	550	544	1		1	0		0	0	128	0	0	1.000000	1	0	1	0	147	0	95	550
CIC	23152	broad.mit.edu	37	19	42799006	42799006	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42799006A>G	ENST00000575354.2	+	20	4530	c.4490A>G	c.(4489-4491)tAt>tGt	p.Y1497C	CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C|CIC_ENST00000572681.2_Missense_Mutation_p.Y2403C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGGCCCGCTATGCAGACATC	0.587			"""Mis, F, S"""		oligodendroglioma																																	ENST00000575354.2	1.000000	0.560000	0.860000	0.640000	0.730000	0.753481	0.730000	0.720000				Rec	yes			Rec	yes		19	19q13.2	19q13.2	23152	Mis, F, S	capicua homolog				O	O			oligodendroglioma		0				82						c.(4489-4491)tAt>tGt		capicua transcriptional repressor							65.0	67.0	66.0					19																	42799006		2203	4300	6503	SO:0001583	missense	23152	2	121408	31				g.chr19:42799006A>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4490A>G	chr19.hg19:g.42799006A>G	ENSP00000458663:p.Tyr1497Cys	0					CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C|CIC_ENST00000572681.2_Missense_Mutation_p.Y2403C	p.Y1497C	NM_015125.3	NP_055940.3	1	2	3	2.054689	Q96RK0	CIC_HUMAN		20	4530	+		Prostate(69;0.00682)	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	1	1	hg19	c.4490A>G	CCDS12601.1	0	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155719	0.57259	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	3.45	0.39498	4.49	3.45	0.39498	.	.	.	.	.	T	0.56543	0.1992	L	0.29908	0.895	0.42414	D	0.992613	D	0.69078	0.997	D	0.66847	0.947	T	0.58476	-0.7630	8	0.87932	D	0	-2.7629	9.5983	0.39587	0.8231:0.1768:0.0:0.0	.	1497	Q96RK0	CIC_HUMAN	C	1497	.	ENSP00000160740:Y1497C	Y	+	2	0	0	CIC	47490846	47490846	1.000000	0.71417	0.965000	0.40720	0.996000	0.88848	4.776000	0.62354	0.845000	0.35118	0.402000	0.26972	TAT	0.286988		TCGA-FB-A5VM-01A-11D-A32N-08	0.587	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	1	0	1	2	2	2	2	0	0	0	0	140	140	140	140	1	1.920000	-20.000000	1	0.280000			0	55	54	0	487	480	1		1	1		0	0	140	0	0	1.000000	9.999964e-01	0	52	0	108	0	55	487
KCNN4	3783	broad.mit.edu	37	19	44280710	44280710	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:44280710G>C	ENST00000262888.3	-	2	633	c.238C>G	c.(238-240)Cat>Gat	p.H80D		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	80					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	TCTTTGGCATGAAAGGCCACG	0.592																																						ENST00000262888.3	1.000000	0.630000	1.000000	0.760000	0.910000	0.891716	0.910000	1.000000																										0				15						c.(238-240)Cat>Gat		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)						82.0	71.0	75.0					19																	44280710		2203	4300	6503	SO:0001583	missense	3783	0	0					g.chr19:44280710G>C	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.238C>G	chr19.hg19:g.44280710G>C	ENSP00000262888:p.His80Asp	0						p.H80D	NM_002250.2	NP_002241.1	1	2	3	2.072191	O15554	KCNN4_HUMAN		2	633	-		Prostate(69;0.0352)	Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	1	1	hg19	c.238C>G	CCDS12630.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.48|17.48	3.400039|3.400039	0.62177|0.62177	.|.	.|.	ENSG00000104783|ENSG00000104783	ENST00000262888|ENST00000407385	D|.	0.99907|.	-7.79|.	2.95|2.95	2.95|2.95	0.34219|0.34219	2.95|2.95	2.95|2.95	0.34219|0.34219	Potassium channel, calcium-activated, SK, conserved region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72269|.	0.3439|.	M|M	0.73962|0.73962	2.25|2.25	0.54753|0.54753	D|D	0.999989|0.999989	D|.	0.61697|.	0.99|.	P|.	0.62089|.	0.898|.	T|.	0.75969|.	-0.3130|.	10|.	0.87932|0.62326	D|D	0|0.03	-18.4681|-18.4681	11.8767|11.8767	0.52552|0.52552	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	80|.	O15554|.	KCNN4_HUMAN|.	D|X	80|18	ENSP00000262888:H80D|.	ENSP00000262888:H80D|ENSP00000384427:S18X	H|S	-|-	1|2	0|0	0|0	KCNN4|KCNN4	48972550|48972550	48972550|48972550	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.782000|0.782000	0.44232|0.44232	8.720000|8.720000	0.91442|0.91442	1.711000|1.711000	0.51337|0.51337	0.549000|0.549000	0.68633|0.68633	CAT|TCA	0.289941		TCGA-FB-A5VM-01A-11D-A32N-08	0.592	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	1	0	1	2	2	2	2	0	0	0	0	53	53	53	51	1	1.920000	-20.000000	1	0.280000	NM_002250		0	32	31	0	227	224	1		1	1		0	0	53	0	0	1.000000	9.999506e-01	0	52	0	59	0	32	227
LAIR1	3903	broad.mit.edu	37	19	54872731	54872731	+	Silent	SNP	C	C	T	rs140141368	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:54872731C>T	ENST00000391742.2	-	3	308	c.156G>A	c.(154-156)ccG>ccA	p.P52P	LAIR1_ENST00000434277.2_Silent_p.P51P|LAIR1_ENST00000313038.6_Silent_p.P45P|LAIR1_ENST00000474878.1_Silent_p.P51P|LAIR1_ENST00000348231.4_Silent_p.P52P|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391743.3_Silent_p.P34P			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	52	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GAACCCCAACCGGGCCCCGGC	0.567													C|||	10	0.00199681	0.0068	0.0	5008	,	,		18845	0.0		0.001	False		,,,				2504	0.0					ENST00000391742.2	1.000000	0.920000	1.000000	0.990000	0.990000	0.995009	0.990000	1.000000																										0				26						c.(154-156)ccG>ccA		leukocyte-associated immunoglobulin-like receptor 1		C	,	24,4382		0,24,2179	113.0	118.0	116.0		156,156	-2.9	0.0	19	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LAIR1	NM_002287.3,NM_021706.2	,	0,24,6479	TT,TC,CC		0.0,0.5447,0.1845	,	52/288,52/271	54872731	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	3903	56	121412	52				g.chr19:54872731C>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.156G>A	chr19.hg19:g.54872731C>T		0					LAIR1_ENST00000474878.1_Silent_p.P51P|LAIR1_ENST00000313038.6_Silent_p.P45P|LAIR1_ENST00000434277.2_Silent_p.P51P|LAIR1_ENST00000348231.4_Silent_p.P52P|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391743.3_Silent_p.P34P	p.P52P			1	2	3	2.065357	Q6GTX8	LAIR1_HUMAN		3	308	-	Ovarian(34;0.19)			Silent	SNP	ENST00000391742.2	1	0	hg19	c.156G>A	CCDS12891.1	1																																																																																								0.288959		TCGA-FB-A5VM-01A-11D-A32N-08	0.567	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1	1	0	1	2	2	2	2	0	0	0	0	134	134	134	134	1	1.920000	-2.967176	1	0.280000			0	103	102	0	565	556	1		1	0		0	0	134	0	0	1.000000	9.971734e-01	0	0	0	50	0	103	565
PEG3	5178	broad.mit.edu	37	19	57335031	57335031	+	Silent	SNP	G	G	A	rs146592671	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:57335031G>A	ENST00000326441.9	-	5	774	c.411C>T	c.(409-411)gaC>gaT	p.D137D	ZIM2_ENST00000593931.1_Silent_p.D11D|ZIM2_ENST00000391708.3_Silent_p.D11D|ZIM2_ENST00000599935.1_Silent_p.D11D|PEG3_ENST00000593695.1_Silent_p.D11D|ZIM2_ENST00000221722.5_Silent_p.D11D|ZIM2_ENST00000593711.1_Silent_p.D11D|ZIM2_ENST00000601070.1_Silent_p.D11D|PEG3_ENST00000598410.1_Silent_p.D11D|PEG3_ENST00000423103.2_Silent_p.D137D|PEG3_ENST00000594706.1_5'Flank	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	137					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGCTGGTCACGTCACTGTTGT	0.552													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		18650	0.0		0.0	False		,,,				2504	0.0					ENST00000326441.9	1.000000	0.690000	1.000000	0.790000	0.910000	0.905747	0.910000	1.000000																										0				170						c.(409-411)gaC>gaT		paternally expressed 3		G	,,,,,,,	22,4384	29.0+/-57.7	0,22,2181	271.0	199.0	223.0		411,33,411,33,33,33,411,33	0.6	0.1	19	dbSNP_134	223	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	,,,,,,,	0,23,6480	AA,AG,GG		0.0116,0.4993,0.1768	,,,,,,,	137/1589,11/1463,137/1589,11/1465,11/528,11/528,137/1589,11/528	57335031	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	5178	63	121412	51				g.chr19:57335031G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.411C>T	chr19.hg19:g.57335031G>A		0					PEG3_ENST00000598410.1_Silent_p.D11D|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000423103.2_Silent_p.D137D|ZIM2_ENST00000599935.1_Silent_p.D11D|ZIM2_ENST00000593931.1_Silent_p.D11D|ZIM2_ENST00000593711.1_Silent_p.D11D|PEG3_ENST00000593695.1_Silent_p.D11D|ZIM2_ENST00000601070.1_Silent_p.D11D|ZIM2_ENST00000391708.3_Silent_p.D11D|ZIM2_ENST00000221722.5_Silent_p.D11D	p.D137D	NM_006210.2	NP_006201.1	1	2	3	2.065357	Q9GZU2	PEG3_HUMAN		5	774	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	1	0	hg19	c.411C>T	CCDS12948.1	1																																																																																								0.288959		TCGA-FB-A5VM-01A-11D-A32N-08	0.552	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1	2	2	2	2	0	0	0	0	85	85	85	84	1	1.920000	-7.261781	1	0.280000			0	50	50	0	348	336	0		1			0	0	85	0	0	1.000000	0	0	0	0	0	0	50	348
INTS3	65123	broad.mit.edu	37	1	153723618	153723618	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:153723618C>T	ENST00000318967.2	+	7	1200	c.632C>T	c.(631-633)aCg>aTg	p.T211M	INTS3_ENST00000456435.1_Missense_Mutation_p.T5M|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000476843.1_3'UTR|snoU13_ENST00000458994.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.T211M	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	212					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTGTTTACACGTACCTCCGC	0.567																																						ENST00000318967.2	1.000000	0.290000	0.720000	0.400000	0.540000	0.569947	0.540000	0.510000																										0				38						c.(631-633)aCg>aTg		integrator complex subunit 3							142.0	109.0	120.0					1																	153723618		2203	4300	6503	SO:0001583	missense	65123	2	121412	30				g.chr1:153723618C>T	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.632C>T	chr1.hg19:g.153723618C>T	ENSP00000318641:p.Thr211Met	0					INTS3_ENST00000456435.1_Missense_Mutation_p.T5M|INTS3_ENST00000476843.1_3'UTR|RP11-216N14.9_ENST00000434575.1_RNA|snoU13_ENST00000458994.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M|RP11-216N14.8_ENST00000453778.1_RNA	p.T211M	NM_023015.3	NP_075391.3	1	2	3	2.046586	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	7	1200	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	1	1	hg19	c.632C>T	CCDS1052.1	0	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844025	0.91197	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.76414	0.3984	M	0.81341	2.54	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.985;0.994	T	0.79783	-0.1658	9	0.87932	D	0	.	15.7443	0.77926	0.0:1.0:0.0:0.0	.	5;212;211	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	M	211;5;211;5	.	ENSP00000318641:T211M	T	+	2	0	0	INTS3	151990242	151990242	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	7.039000	0.76544	2.570000	0.86706	0.555000	0.69702	ACG	0.285998		TCGA-FB-A5VM-01A-11D-A32N-08	0.567	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	1	0	1	2	2	2	2	0	0	0	0	40	40	40	40	1	1.920000	-3.222033	1	0.280000	NM_023015		0	12	12	0	154	154	0		1	0		0	0	40	0	0	0.999228	3.371862e-02	0	1	0	3	0	12	154
RAB25	57111	broad.mit.edu	37	1	156038083	156038083	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:156038083G>A	ENST00000361084.5	+	3	503	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	88					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCAGTGGGGGCCCTCCTGGT	0.557																																						ENST00000361084.5	1.000000	0.950000	1.000000	0.990000	0.990000	0.997448	0.990000	1.000000																										0				5						c.(262-264)Gcc>Acc		RAB25, member RAS oncogene family							109.0	106.0	107.0					1																	156038083		2113	4264	6377	SO:0001583	missense	57111	0	0					g.chr1:156038083G>A	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.262G>A	chr1.hg19:g.156038083G>A	ENSP00000354376:p.Ala88Thr	0					RAB25_ENST00000487325.1_3'UTR	p.A88T	NM_020387.2	NP_065120.2	1	2	3	2.046586	P57735	RAB25_HUMAN		3	503	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	ENST00000361084.5	1	1	hg19	c.262G>A	CCDS41413.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.595812	0.96602	.	.	ENSG00000132698	ENST00000361084	T	0.81163	-1.46	5.19	5.19	0.71726	5.19	5.19	0.71726	Small GTP-binding protein domain (1);	0.106823	0.64402	D	0.000006	D	0.92851	0.7726	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94704	0.7886	10	0.87932	D	0	.	17.4443	0.87574	0.0:0.0:1.0:0.0	.	88	P57735	RAB25_HUMAN	T	88	ENSP00000354376:A88T	ENSP00000354376:A88T	A	+	1	0	0	RAB25	154304707	154304707	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.520000	0.98027	2.686000	0.91538	0.655000	0.94253	GCC	0.285998		TCGA-FB-A5VM-01A-11D-A32N-08	0.557	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1	1	0	1	2	2	2	2	0	0	0	0	121	121	121	120	1	1.920000	-20.000000	1	0.280000			0	96	96	0	501	497	1		1	1		0	0	121	0	0	1.000000	1	0	146	0	207	0	96	501
OLFML2B	25903	broad.mit.edu	37	1	161953822	161953822	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:161953822G>A	ENST00000294794.3	-	8	2319	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	OLFML2B_ENST00000367940.2_Silent_p.I633I|OLFML2B_ENST00000367938.1_Silent_p.I115I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	632	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGCCGGGTAGATGAGCCATA	0.617																																						ENST00000294794.3	1.000000	0.910000	1.000000	0.990000	0.990000	0.994890	0.990000	1.000000																										0				48						c.(1894-1896)atC>atT		olfactomedin-like 2B							71.0	62.0	65.0					1																	161953822		2203	4300	6503	SO:0001819	synonymous_variant	25903	0	0					g.chr1:161953822G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1896C>T	chr1.hg19:g.161953822G>A		0					OLFML2B_ENST00000367938.1_Silent_p.I115I|OLFML2B_ENST00000367940.2_Silent_p.I633I	p.I632I	NM_015441.1	NP_056256.1	1	2	3	2.046641	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)	8	2319	-	all_hematologic(112;0.156)		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	1	1	hg19	c.1896C>T	CCDS1236.1	1																																																																																								0.285998		TCGA-FB-A5VM-01A-11D-A32N-08	0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	1	0	1	2	2	2	2	0	0	0	0	69	69	69	68	1	1.920000	-20.000000	1	0.280000	NM_015441		0	52	50	0	262	258	1		1	0		0	0	69	0	0	1.000000	1	0	0	0	207	0	52	262
PLA2G4A	5321	broad.mit.edu	37	1	186916023	186916023	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:186916023C>A	ENST00000367466.3	+	12	1346	c.1194C>A	c.(1192-1194)tcC>tcA	p.S398S	PLA2G4A_ENST00000442353.2_Silent_p.S338S	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	398	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GTGCCTTTTCCATATTGTTCA	0.358																																						ENST00000367466.3	1.000000	0.580000	0.930000	0.680000	0.790000	0.803177	0.790000	1.000000																										0				53						c.(1192-1194)tcC>tcA		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)						151.0	148.0	149.0					1																	186916023		2203	4300	6503	SO:0001819	synonymous_variant	5321	0	0					g.chr1:186916023C>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1194C>A	chr1.hg19:g.186916023C>A		0					PLA2G4A_ENST00000442353.2_Silent_p.S338S	p.S398S	NM_024420.2	NP_077734	1	2	3	2.046641	P47712	PA24A_HUMAN		12	1346	+			B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	1	1	hg19	c.1194C>A	CCDS1372.1	0																																																																																								0.285998		TCGA-FB-A5VM-01A-11D-A32N-08	0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	1	0	1	2	2	2	2	0	0	0	0	77	77	77	75	1	1.920000	-3.017764	1	0.280000	NM_024420		0	45	44	0	367	363	1		1	0		0	0	77	0	0	1.000000	9.927503e-02	0	1	0	4	0	45	367
CSMD2	114784	broad.mit.edu	37	1	34401481	34401481	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:34401481C>T	ENST00000373381.4	-	4	768	c.592G>A	c.(592-594)Ggt>Agt	p.G198S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	158	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTTGTCACCGAGGTTGAAG	0.597																																						ENST00000373381.4	1.000000	0.630000	0.940000	0.720000	0.810000	0.828594	0.810000	0.810000																										0				246						c.(592-594)Ggt>Agt		CUB and Sushi multiple domains 2							122.0	112.0	116.0					1																	34401481		2203	4300	6503	SO:0001583	missense	114784	1	121412	30				g.chr1:34401481C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.592G>A	chr1.hg19:g.34401481C>T	ENSP00000362479:p.Gly198Ser	0						p.G198S	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	1	2	3	2.059604	Q7Z408	CSMD2_HUMAN		4	768	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	1	1	hg19	c.592G>A		0	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337261	0.81911	.	.	ENSG00000121904	ENST00000373381	T	0.72394	-0.65	5.27	5.27	0.74061	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.85579	0.5729	M	0.87971	2.92	0.80722	D	1	B;D	0.89917	0.241;1.0	B;D	0.65010	0.094;0.931	D	0.88169	0.2863	10	0.72032	D	0.01	.	17.8728	0.88816	0.0:1.0:0.0:0.0	.	158;198	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	198	ENSP00000362479:G198S	ENSP00000241312:G158S	G	-	1	0	0	CSMD2	34174068	34174068	1.000000	0.71417	0.575000	0.28536	0.940000	0.58332	7.733000	0.84916	2.439000	0.82584	0.563000	0.77884	GGT	0.287975		TCGA-FB-A5VM-01A-11D-A32N-08	0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	134	134	134	134	1	1.920000	-2.559126	1	0.280000	NM_052896		0	66	66	0	521	520	1		1			0	0	134	0	0	1.000000	0	0	0	0	0	0	66	521
PTPRF	5792	broad.mit.edu	37	1	44069850	44069850	+	Silent	SNP	G	G	A	rs570067770		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:44069850G>A	ENST00000359947.4	+	16	3367	c.3027G>A	c.(3025-3027)ccG>ccA	p.P1009P	PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000422171.2_Silent_p.P357P|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1009	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P999P(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGACCATGCCGGTGGAGCAAG	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		22254	0.0		0.001	False		,,,				2504	0.0					ENST00000359947.4	1.000000	0.040000	0.210000	0.080000	0.130000	0.193679	0.130000	0.120000																										1	Substitution - coding silent(1)	p.P999P(1)	lung(1)	72						c.(3025-3027)ccG>ccA		protein tyrosine phosphatase, receptor type, F							63.0	59.0	60.0					1																	44069850		2203	4300	6503	SO:0001819	synonymous_variant	5792	5	121406	39				g.chr1:44069850G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3027G>A	chr1.hg19:g.44069850G>A		0					PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000422171.2_Silent_p.P357P	p.P1009P	NM_002840.3	NP_002831.2	1	2	3	2.059604	P10586	PTPRF_HUMAN		16	3367	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	0	1	hg19	c.3027G>A	CCDS489.2	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.011|0.011	-1.698940|-1.698940	0.00725|0.00725	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.92|4.92	-9.55|-9.55	0.00569|0.00569	4.92|4.92	-9.55|-9.55	0.00569|0.00569	.|.	.|.	.|.	.|.	.|.	T|T	0.32164|0.32164	0.0820|0.0820	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39292|0.39292	-0.9621|-0.9621	4|4	.|.	.|.	.|.	.|.	1.4878|1.4878	0.02451|0.02451	0.3792:0.1043:0.1405:0.376|0.3792:0.1043:0.1405:0.376	.|.	.|.	.|.	.|.	S|Q	423|655	.|.	.|.	G|R	+|+	1|2	0|0	0|0	PTPRF|PTPRF	43842437|43842437	43842437|43842437	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-3.041000|-3.041000	0.00632|0.00632	-1.978000|-1.978000	0.00993|0.00993	-4.209000|-4.209000	0.00009|0.00009	GGT|CGG	0.287975		TCGA-FB-A5VM-01A-11D-A32N-08	0.622	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	0	0	1	2	2	2	2	0	0	0	0	63	63	63	63	1	1.920000	-2.985697	1	0.280000			0	5	5	0	304	300	0		1	0		0	0	63	0	0	0.935879	1.782789e-01	0	0	0	39	0	5	304
RAD54L	8438	broad.mit.edu	37	1	46739341	46739341	+	Missense_Mutation	SNP	G	G	A	rs372456315		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:46739341G>A	ENST00000371975.4	+	14	2206	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	511	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACCCGAAGCCGTAGCAGTGAC	0.542								Direct reversal of damage;Homologous recombination																														ENST00000371975.4	1.000000	0.060000	0.340000	0.120000	0.200000	0.266042	0.200000	0.180000																										0				25						c.(1531-1533)cGt>cAt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	70.0	75.0	73.0		1532,1532	3.0	0.9	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RAD54L	NM_003579.3,NM_001142548.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	511/748,511/748	46739341	1,13005	2203	4300	6503	SO:0001583	missense	8438	6	121412	37				g.chr1:46739341G>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1532G>A	chr1.hg19:g.46739341G>A	ENSP00000361043:p.Arg511His	0					RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H	p.R511H	NM_003579.3	NP_003570.2	1	2	3	2.059604	Q92698	RAD54_HUMAN		14	2206	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	0	1	hg19	c.1532G>A	CCDS532.1	0	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893653	0.52121	0.0	1.16E-4	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.75367	-0.93;-0.93	4.94	2.99	0.34606	4.94	2.99	0.34606	Helicase, C-terminal (1);	0.260402	0.43260	D	0.000586	T	0.55033	0.1895	N	0.17564	0.495	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.0	T	0.52328	-0.8590	10	0.45353	T	0.12	0.0048	7.8659	0.29537	0.0986:0.3489:0.5525:0.0	.	331;511	G3V1N0;Q92698	.;RAD54_HUMAN	H	511;511;331	ENSP00000396113:R511H;ENSP00000361043:R511H	ENSP00000361043:R511H	R	+	2	0	0	RAD54L	46511928	46511928	1.000000	0.71417	0.888000	0.34837	0.852000	0.48524	4.373000	0.59537	1.341000	0.45600	-0.259000	0.10710	CGT	0.287975		TCGA-FB-A5VM-01A-11D-A32N-08	0.542	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	0	0	1	2	2	2	2	0	0	0	0	23	23	23	23	1	1.920000	-3.661016	1	0.280000	NM_003579		0	4	4	0	159	156	0		1	0		0	0	23	0	0	0.886949	3.542871e-01	0	0	0	41	0	4	159
LRRC40	55631	broad.mit.edu	37	1	70641617	70641617	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:70641617G>C	ENST00000370952.3	-	7	932	c.853C>G	c.(853-855)Ctt>Gtt	p.L285V		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	285						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						AGATGTTTAAGATGTTCTGCC	0.348																																						ENST00000370952.3	1.000000	0.260000	0.610000	0.350000	0.460000	0.499453	0.460000	0.440000																										0				27						c.(853-855)Ctt>Gtt		leucine rich repeat containing 40							119.0	116.0	117.0					1																	70641617		2203	4300	6503	SO:0001583	missense	55631	0	0					g.chr1:70641617G>C		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.853C>G	chr1.hg19:g.70641617G>C	ENSP00000359990:p.Leu285Val	0						p.L285V	NM_017768.4	NP_060238.3	1	2	3	2.059604	Q9H9A6	LRC40_HUMAN		7	932	-			Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	1	1	hg19	c.853C>G	CCDS646.1	0	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350555	0.61183	.	.	ENSG00000066557	ENST00000370952	T	0.61510	0.1	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.55481	1.735	0.53688	D	0.999978	D	0.67145	0.996	D	0.65573	0.936	T	0.56056	-0.8042	10	0.22706	T	0.39	.	18.9046	0.92455	0.0:0.0:1.0:0.0	.	285	Q9H9A6	LRC40_HUMAN	V	285	ENSP00000359990:L285V	ENSP00000359990:L285V	L	-	1	0	0	LRRC40	70414205	70414205	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.021000	0.70832	2.567000	0.86603	0.585000	0.79938	CTT	0.287975		TCGA-FB-A5VM-01A-11D-A32N-08	0.348	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	1	0	1	2	2	2	2	0	0	0	0	40	40	40	40	1	1.920000	-5.705470	1	0.280000	NM_017768		0	15	15	0	229	225	0		1	1		0	0	40	0	0	0.999871	9.308925e-02	0	2	0	6	0	15	229
NEGR1	257194	broad.mit.edu	37	1	71873147	71873147	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:71873147C>T	ENST00000357731.5	-	7	1286	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	ZRANB2-AS2_ENST00000585415.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|NEGR1_ENST00000434200.1_Silent_p.K303K|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000590186.1_RNA|ZRANB2-AS2_ENST00000587306.1_RNA|NEGR1_ENST00000306821.3_Silent_p.K221K|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000586006.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	349					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GAATGGCATTCTTCAGGTAGA	0.428																																						ENST00000357731.5	1.000000	0.740000	1.000000	0.890000	0.990000	0.961030	0.990000	1.000000																										0				32						c.(1045-1047)aaG>aaA		neuronal growth regulator 1							85.0	85.0	85.0					1																	71873147		2203	4300	6503	SO:0001819	synonymous_variant	257194	0	0					g.chr1:71873147C>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1047G>A	chr1.hg19:g.71873147C>T		0					NEGR1_ENST00000306821.3_Silent_p.K221K|ZRANB2-AS2_ENST00000590186.1_RNA|ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|ZRANB2-AS2_ENST00000587306.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000585415.1_RNA|ZRANB2-AS2_ENST00000586006.1_RNA|NEGR1_ENST00000434200.1_Silent_p.K303K	p.K349K	NM_173808.2	NP_776169.2	1	2	3	2.059604	Q7Z3B1	NEGR1_HUMAN		7	1286	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	1	1	hg19	c.1047G>A	CCDS661.1	1																																																																																								0.287975		TCGA-FB-A5VM-01A-11D-A32N-08	0.428	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	1	0	1	2	2	2	2	0	0	0	0	33	33	33	32	1	1.920000	-20.000000	1	0.280000	NM_173808		0	30	29	0	176	174	1		1	0		0	0	33	0	0	1.000000	6.128608e-02	0	0	0	3	0	30	176
B3GALT2	8707	broad.mit.edu	37	1	193149903	193149903	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:193149903T>C	ENST00000367434.4	-	2	1545	c.790A>G	c.(790-792)Aat>Gat	p.N264D	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	264					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AGTAACTTATTGATTAAATAT	0.388																																						ENST00000367434.4	1.000000	0.060000	0.270000	0.100000	0.170000	0.221094	0.170000	0.150000																										0				16						c.(790-792)Aat>Gat		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							106.0	101.0	103.0					1																	193149903		2203	4299	6502	SO:0001583	missense	8707	0	0					g.chr1:193149903T>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.790A>G	chr1.hg19:g.193149903T>C	ENSP00000356404:p.Asn264Asp	0					CDC73_ENST00000367435.3_Intron	p.N264D	NM_003783.3	NP_003774.1	1	2	3	2.046641	O43825	B3GT2_HUMAN		2	1545	-			B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	0	1	hg19	c.790A>G	CCDS1383.1	0	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985401	0.35036	.	.	ENSG00000162630	ENST00000367434	T	0.42513	0.97	5.42	4.5	0.54988	5.42	4.5	0.54988	.	0.104621	0.64402	D	0.000003	T	0.24470	0.0593	N	0.04297	-0.235	0.25600	N	0.98661	B	0.14012	0.009	B	0.24848	0.056	T	0.13953	-1.0490	10	0.24483	T	0.36	.	15.5666	0.76298	0.0:0.0:0.8593:0.1407	.	264	O43825	B3GT2_HUMAN	D	264	ENSP00000356404:N264D	ENSP00000356404:N264D	N	-	1	0	0	B3GALT2	191416526	191416526	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.987000	0.49378	1.266000	0.44231	-0.173000	0.13275	AAT	0.285998		TCGA-FB-A5VM-01A-11D-A32N-08	0.388	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	0	0	1	2	2	2	2	0	0	0	0	44	44	44	44	1	1.920000	-3.472347	1	0.280000	NM_003783		0	5	5	0	227	225	0		1	0		0	0	44	0	0	0.936790	0	0	0	0	1	0	5	227
CASS4	57091	broad.mit.edu	37	20	55012332	55012332	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:55012332G>T	ENST00000360314.3	+	3	374	c.149G>T	c.(148-150)gGt>gTt	p.G50V	CASS4_ENST00000371336.3_Missense_Mutation_p.G50V|CASS4_ENST00000434344.1_Missense_Mutation_p.G50V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	50	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAAAGCGAGGGTTGGTGGAAG	0.602																																						ENST00000360314.3	1.000000	0.580000	0.910000	0.680000	0.790000	0.801303	0.790000	1.000000																										0				54						c.(148-150)gGt>gTt		Cas scaffolding protein family member 4							65.0	61.0	62.0					20																	55012332		2203	4300	6503	SO:0001583	missense	57091	0	0					g.chr20:55012332G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.149G>T	chr20.hg19:g.55012332G>T	ENSP00000353462:p.Gly50Val	1					CASS4_ENST00000371336.3_Missense_Mutation_p.G50V|CASS4_ENST00000434344.1_Missense_Mutation_p.G50V	p.G50V	NM_001164116.1	NP_001157588.1	1	2	3	2.320304	Q9NQ75	CASS4_HUMAN		3	374	+			E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	1	1	hg19	c.149G>T	CCDS33492.1	0	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274043	0.80580	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.74737	-0.87;-0.87;-0.87	5.71	5.71	0.89125	5.71	5.71	0.89125	Src homology-3 domain (4);	0.051653	0.85682	D	0.000000	D	0.91586	0.7342	H	0.96604	3.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	D	0.93821	0.7119	10	0.87932	D	0	-42.9102	19.8625	0.96789	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DII4;Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;.;CASS4_HUMAN	V	50	ENSP00000353462:G50V;ENSP00000360387:G50V;ENSP00000410027:G50V	ENSP00000353462:G50V	G	+	2	0	0	CASS4	54445739	54445739	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.431000	0.80335	2.689000	0.91719	0.655000	0.94253	GGT	0.368421		TCGA-FB-A5VM-01A-11D-A32N-08	0.602	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	1	0	1	2	2	2	2	0	0	0	0	75	75	75	73	1	1.920000	-20.000000	1	0.280000	NM_020356		0	44	44	0	408	406	0		1			0	0	75	0	0	1.000000	0	0	0	0	0	0	44	408
LRRN4	164312	broad.mit.edu	37	20	6021941	6021941	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:6021941G>A	ENST00000378858.4	-	5	2174	c.1950C>T	c.(1948-1950)tgC>tgT	p.C650C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	650	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGCCAGCACGCACACGCGGT	0.721																																						ENST00000378858.4	1.000000	0.050000	0.290000	0.100000	0.170000	0.225224	0.170000	0.150000																										0				27						c.(1948-1950)tgC>tgT		leucine rich repeat neuronal 4							16.0	16.0	16.0					20																	6021941		2186	4273	6459	SO:0001819	synonymous_variant	164312	1	119864	26				g.chr20:6021941G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1950C>T	chr20.hg19:g.6021941G>A		0						p.C650C	NM_152611.4	NP_689824.2	1	2	3	2.046593	Q8WUT4	LRRN4_HUMAN		5	2174	-			A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	0	1	hg19	c.1950C>T	CCDS13097.1	0																																																																																								0.285998		TCGA-FB-A5VM-01A-11D-A32N-08	0.721	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	0	0	1	2	2	2	2	0	0	0	0	40	40	40	39	1	1.920000	-6.023351	1	0.280000	NM_152611		0	4	4	0	184	182	0		1	0		0	0	40	0	0	0.888735	0	0	0	0	1	0	4	184
ZBP1	81030	broad.mit.edu	37	20	56186849	56186849	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:56186849T>G	ENST00000371173.3	-	6	985	c.808A>C	c.(808-810)Aat>Cat	p.N270H	ZBP1_ENST00000340462.4_Missense_Mutation_p.N247H|ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H|ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	270					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTCATCTCATTGCTGTGTCCC	0.632																																						ENST00000371173.3	1.000000	0.620000	1.000000	0.800000	0.990000	0.927307	0.990000	1.000000																										0				27						c.(808-810)Aat>Cat		Z-DNA binding protein 1							38.0	39.0	39.0					20																	56186849		2203	4300	6503	SO:0001583	missense	81030	0	0					g.chr20:56186849T>G	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.808A>C	chr20.hg19:g.56186849T>G	ENSP00000360215:p.Asn270His	1					ZBP1_ENST00000340462.4_Missense_Mutation_p.N247H|ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H|ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H	p.N270H	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	1	2	3	2.320304	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)	6	985	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	1	1	hg19	c.808A>C	CCDS13461.1	1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216027	0.39201	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.23348	2.29;1.91;2.29;2.26	3.25	2.09	0.27110	3.25	2.09	0.27110	.	0.365705	0.19940	N	0.102675	T	0.38904	0.1058	L	0.52573	1.65	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.07233	-1.0783	10	0.87932	D	0	-23.1631	6.3696	0.21473	0.0:0.0:0.2548:0.7452	.	270;195;270	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	H	270;195;247;270;270	ENSP00000360215:N270H;ENSP00000379167:N195H;ENSP00000344954:N247H;ENSP00000340584:N270H	ENSP00000344954:N247H	N	-	1	0	0	ZBP1	55620255	55620255	0.552000	0.26505	0.002000	0.10522	0.036000	0.12997	1.422000	0.34826	0.592000	0.29728	0.454000	0.30748	AAT	0.368421		TCGA-FB-A5VM-01A-11D-A32N-08	0.632	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	1	0	1	2	2	2	2	0	0	0	0	27	27	27	27	1	1.920000	-20.000000	1	0.280000	NM_030776		0	16	16	0	113	110	1		1	0		0	0	27	0	0	0.999943	2.296670e-01	0	1	0	6	0	16	113
LAMA5	3911	broad.mit.edu	37	20	60921843	60921843	+	Silent	SNP	G	G	A	rs373700695		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:60921843G>A	ENST00000252999.3	-	8	1152	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	LAMA5_ENST00000370677.3_Silent_p.Y362Y|LAMA5_ENST00000370692.3_Silent_p.Y362Y	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	362	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCATGGCCGTAGCAGTTAC	0.667																																						ENST00000252999.3	0.520000	0.080000	0.380000	0.140000	0.240000	0.270078	0.240000	0.210000																										0				81						c.(1084-1086)taC>taT		laminin, alpha 5		A		1,4397	2.1+/-5.4	0,1,2198	29.0	32.0	31.0		1086	-9.7	0.3	20		31	0,8590		0,0,4295	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		362/3696	60921843	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	3911	1	120876	25				g.chr20:60921843G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1086C>T	chr20.hg19:g.60921843G>A		1					LAMA5_ENST00000370692.3_Silent_p.Y362Y|LAMA5_ENST00000370677.3_Silent_p.Y362Y	p.Y362Y	NM_005560.3	NP_005551.3	1	2	3	2.320304	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	8	1152	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	0	1	hg19	c.1086C>T	CCDS33502.1	0																																																																																								0.368421		TCGA-FB-A5VM-01A-11D-A32N-08	0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	0	0	1	2	2	2	2	0	0	0	0	34	34	34	32	1	1.920000	-6.333987	1	0.280000	NM_005560		0	4	4	0	143	142	0		1			0	0	34	0	0	0.889833	0	0	0	0	0	0	4	143
SUMO3	6612	broad.mit.edu	37	21	46229016	46229016	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr21:46229016C>T	ENST00000397898.3	-	3	250	c.168G>A	c.(166-168)caG>caA	p.Q56Q	SUMO3_ENST00000397893.3_Silent_p.Q56Q|SUMO3_ENST00000332859.6_Silent_p.Q56Q|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.Q94Q					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		TGAATCTGATCTGCCTCATTG	0.532																																						ENST00000397898.3	1.000000	0.630000	1.000000	0.750000	0.900000	0.886855	0.900000	1.000000																										0				1						c.(166-168)caG>caA		small ubiquitin-like modifier 3							135.0	102.0	114.0					21																	46229016		2203	4300	6503	SO:0001819	synonymous_variant	6612	0	0					g.chr21:46229016C>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.168G>A	chr21.hg19:g.46229016C>T		0					SUMO3_ENST00000411651.2_Silent_p.Q94Q|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000332859.6_Silent_p.Q56Q|SUMO3_ENST00000397893.3_Silent_p.Q56Q	p.Q56Q			1	2	3	2.039265				3	250	-				Silent	SNP	ENST00000397898.3	1	1	hg19	c.168G>A		1																																																																																								0.284010		TCGA-FB-A5VM-01A-11D-A32N-08	0.532	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1	1	0	1	2	2	2	2	0	0	0	0	59	59	59	58	1	1.920000	-14.372590	1	0.280000			0	31	29	0	217	212	1		1	1		0	0	59	0	0	1.000000	1	0	119	0	278	0	31	217
TNRC6B	23112	broad.mit.edu	37	22	40662850	40662850	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40662850C>T	ENST00000454349.2	+	5	2827	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Silent_p.P872P|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	872	Interaction with argonaute proteins.|Pro-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ATGAGGAACCCAGTGGTTGGG	0.552																																						ENST00000454349.2	1.000000	0.830000	1.000000	0.990000	0.990000	0.987568	0.990000	1.000000																										0				1						c.(2614-2616)ccC>ccT		trinucleotide repeat containing 6B							39.0	41.0	40.0					22																	40662850		2109	4237	6346	SO:0001819	synonymous_variant	23112	0	0					g.chr22:40662850C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2616C>T	chr22.hg19:g.40662850C>T		0					TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Silent_p.P872P|TNRC6B_ENST00000301923.9_Intron	p.P872P	NM_001162501.1	NP_001155973.1	1	2	3	2.067918	Q9UPQ9	TNR6B_HUMAN		5	2827	+			B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	1	1	hg19	c.2616C>T	CCDS54533.1	1	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117318	0.20795	.	.	ENSG00000100354	ENST00000446273	T	0.24538	1.85	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.052766	0.85682	D	0.000000	T	0.34919	0.0914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16217	-1.0410	7	0.72032	D	0.01	-4.2812	6.4872	0.22095	0.3133:0.6:0.0:0.0866	.	.	.	.	L	615	ENSP00000409429:P615L	ENSP00000409429:P615L	P	+	2	0	0	TNRC6B	38992796	38992796	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.325000	0.19628	2.561000	0.86390	0.561000	0.74099	CCA	0.289941		TCGA-FB-A5VM-01A-11D-A32N-08	0.552	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	30	30	30	30	1	1.920000	-3.393926	1	0.280000			0	27	27	0	135	135	1		1			0	0	30	0	0	1.000000	0	0	0	0	0	0	27	135
ACOXL	55289	broad.mit.edu	37	2	111556628	111556628	+	Silent	SNP	C	C	T	rs200491300		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:111556628C>T	ENST00000389811.4	+	7	722	c.498C>T	c.(496-498)aaC>aaT	p.N166N	ACOXL_ENST00000439055.1_Silent_p.N166N|ACOXL_ENST00000340561.4_Silent_p.N166N			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	166					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGGATGAAAACGGAAGCTTGT	0.502																																						ENST00000389811.4	1.000000	0.770000	1.000000	0.860000	0.970000	0.944940	0.970000	1.000000																										0				21						c.(496-498)aaC>aaT		acyl-CoA oxidase-like		C		0,4406		0,0,2203	165.0	139.0	148.0		498	-10.7	0.1	2		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACOXL	NM_001142807.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		166/581	111556628	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55289	28	121412	48				g.chr2:111556628C>T		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.498C>T	chr2.hg19:g.111556628C>T		0					ACOXL_ENST00000340561.4_Silent_p.N166N|ACOXL_ENST00000439055.1_Silent_p.N166N	p.N166N			1	2	3	2.033904	Q9NUZ1	ACOXL_HUMAN		7	722	+			A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	1	1	hg19	c.498C>T		1	.	.	.	.	.	.	.	.	.	.	C	8.179	0.793474	0.16327	0.0	1.16E-4	ENSG00000153093	ENST00000422487	.	.	.	5.35	-10.7	0.00240	5.35	-10.7	0.00240	.	.	.	.	.	T	0.61085	0.2319	.	.	.	0.45662	D	0.998582	.	.	.	.	.	.	T	0.77075	-0.2722	5	0.87932	D	0	-22.6667	9.5339	0.39211	0.0906:0.5713:0.0924:0.2458	.	.	.	.	M	18	.	ENSP00000404255:T18M	T	+	2	0	0	ACOXL	111273099	111273099	0.078000	0.21339	0.094000	0.20943	0.932000	0.56968	-1.471000	0.02344	-2.880000	0.00319	-0.961000	0.02630	ACG	0.284010		TCGA-FB-A5VM-01A-11D-A32N-08	0.502	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	0	0	1	2	17	2	2	1	1	1	1	106	106	106	105	1	1.920000	-7.257158	1	0.280000	NM_018308		0	71	71	0	455	451	0		1	1		1	0	106	0	0	1.000000	1.874666e-02	0	2	0	0	0	71	455
GPD2	2820	broad.mit.edu	37	2	157435503	157435503	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:157435503G>T	ENST00000310454.6	+	14	2242	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y|GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	624	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACTGCCTTCAGACATTGACAG	0.333																																						ENST00000310454.6	1.000000	0.410000	0.690000	0.490000	0.580000	0.600148	0.580000	0.570000																										0				22						c.(1870-1872)Gac>Tac		glycerol-3-phosphate dehydrogenase 2 (mitochondrial)							117.0	119.0	118.0					2																	157435503		2203	4300	6503	SO:0001583	missense	2820	0	0					g.chr2:157435503G>T		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1870G>T	chr2.hg19:g.157435503G>T	ENSP00000308610:p.Asp624Tyr	0					GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y	p.D624Y	NM_001083112.2	NP_001076581.2	1	2	3	2.033904	P43304	GPDM_HUMAN		14	2242	+			A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	1	1	hg19	c.1870G>T	CCDS2202.1	0	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669779	0.88348	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.79	5.79	0.91817	5.79	5.79	0.91817	EF-hand-like domain (1);	0.042575	0.85682	D	0.000000	T	0.70876	0.3274	M	0.68593	2.085	0.80722	D	1	P	0.40398	0.716	P	0.45946	0.498	T	0.73212	-0.4054	10	0.87932	D	0	.	20.0308	0.97536	0.0:0.0:1.0:0.0	.	624	P43304	GPDM_HUMAN	Y	624;397;624;624	ENSP00000308610:D624Y;ENSP00000386484:D397Y;ENSP00000409708:D624Y;ENSP00000386425:D624Y	ENSP00000308610:D624Y	D	+	1	0	0	GPD2	157143749	157143749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.845000	0.99498	2.732000	0.93576	0.585000	0.79938	GAC	0.284010		TCGA-FB-A5VM-01A-11D-A32N-08	0.333	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3	1	0	1	2	2	2	2	0	0	0	0	94	94	94	94	1	1.920000	-10.278150	1	0.280000			0	35	35	0	400	398	0		1	1		0	0	94	0	0	1.000000	1.375752e-01	0	2	0	6	0	35	400
SCN3A	6328	broad.mit.edu	37	2	165953881	165953881	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:165953881C>A	ENST00000360093.3	-	23	4611	c.4120G>T	c.(4120-4122)Gac>Tac	p.D1374Y	SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1374					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCACTAATGTCAAACATGTTA	0.423																																						ENST00000360093.3	1.000000	0.710000	1.000000	0.840000	0.980000	0.938172	0.980000	1.000000																										0				120						c.(4120-4122)Gac>Tac		sodium channel, voltage-gated, type III, alpha subunit	Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)						140.0	122.0	128.0					2																	165953881		2203	4300	6503	SO:0001583	missense	6328	0	0					g.chr2:165953881C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4120G>T	chr2.hg19:g.165953881C>A	ENSP00000353206:p.Asp1374Tyr	0					SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374Y|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y	p.D1374Y	NM_001081677.1	NP_001075146.1	1	2	3	2.033904	Q9NY46	SCN3A_HUMAN		23	4611	-			Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	1	1	hg19	c.4120G>T		1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705927	0.48412	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96522	-4.04;-4.04;-3.98;-3.8	5.72	1.94	0.25998	5.72	1.94	0.25998	Ion transport (1);	0.992515	0.08199	N	0.982552	D	0.97470	0.9172	M	0.80332	2.49	0.80722	D	1	P;P;B;B;P	0.41910	0.764;0.642;0.25;0.25;0.722	P;B;B;B;P	0.58130	0.833;0.353;0.173;0.173;0.743	D	0.92897	0.6336	10	0.72032	D	0.01	.	6.9439	0.24508	0.0:0.6271:0.1154:0.2575	.	1374;1325;1325;1325;1374	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Y	1374;1374;1325;1325	ENSP00000353206:D1374Y;ENSP00000283254:D1374Y;ENSP00000386726:D1325Y;ENSP00000403348:D1325Y	ENSP00000283254:D1374Y	D	-	1	0	0	SCN3A	165662127	165662127	1.000000	0.71417	0.488000	0.27440	0.504000	0.33889	1.422000	0.34826	0.149000	0.19098	-0.812000	0.03155	GAC	0.284010		TCGA-FB-A5VM-01A-11D-A32N-08	0.423	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	51	51	51	51	1	1.920000	-17.805170	1	0.280000	NM_006922		0	39	38	0	247	242	1		1			0	0	51	0	0	1.000000	0	0	0	0	0	0	39	247
AMOTL2	51421	broad.mit.edu	37	3	134090033	134090033	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:134090033G>A	ENST00000422605.2	-	2	409	c.243C>T	c.(241-243)ggC>ggT	p.G81G	AMOTL2_ENST00000514516.1_Silent_p.G139G|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000249883.5_Silent_p.G81G|AMOTL2_ENST00000513145.1_Silent_p.G81G			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	81					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGTTCTCACCGCCCTGGTGCT	0.677																																						ENST00000422605.2	0.300000	0.040000	0.220000	0.080000	0.130000	0.153189	0.130000	0.120000																										0				19						c.(241-243)ggC>ggT		angiomotin like 2							51.0	44.0	46.0					3																	134090033		2203	4300	6503	SO:0001819	synonymous_variant	51421	1	121408	27				g.chr3:134090033G>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.243C>T	chr3.hg19:g.134090033G>A		1					AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000514516.1_Silent_p.G139G|AMOTL2_ENST00000513145.1_Silent_p.G81G|AMOTL2_ENST00000249883.5_Silent_p.G81G	p.G81G			1	2	3	2.319513	Q9Y2J4	AMOL2_HUMAN		2	409	-			A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	ENST00000422605.2	0	1	hg19	c.243C>T		0																																																																																								0.368421		TCGA-FB-A5VM-01A-11D-A32N-08	0.677	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	0	0	1	2	2	2	2	0	0	0	0	45	45	45	45	1	1.920000	-5.022657	1	0.280000	NM_016201		0	4	4	0	258	257	0		1	0		0	0	45	0	0	0.890180	1.081150e-02	0	0	0	8	0	4	258
TRIM42	287015	broad.mit.edu	37	3	140401600	140401600	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:140401600G>A	ENST00000286349.3	+	2	829	c.638G>A	c.(637-639)cGt>cAt	p.R213H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	213						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R213H(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						CTGCACGGGCGTCTCACCAAG	0.612																																						ENST00000286349.3	1.000000	0.760000	1.000000	0.850000	0.950000	0.939293	0.950000	1.000000																										1	Substitution - Missense(1)	p.R213H(1)	central_nervous_system(1)	69						c.(637-639)cGt>cAt		tripartite motif containing 42							74.0	73.0	73.0					3																	140401600		2203	4300	6503	SO:0001583	missense	287015	0	0					g.chr3:140401600G>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.638G>A	chr3.hg19:g.140401600G>A	ENSP00000286349:p.Arg213His	1						p.R213H	NM_152616.4	NP_689829.3	1	2	3	2.319513	Q8IWZ5	TRI42_HUMAN		2	829	+			A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	1	1	hg19	c.638G>A	CCDS3113.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215216	0.79352	.	.	ENSG00000155890	ENST00000286349	T	0.38722	1.12	5.2	4.32	0.51571	5.2	4.32	0.51571	Zinc finger, RING/FYVE/PHD-type (1);	0.117429	0.35349	N	0.003274	T	0.46347	0.1388	L	0.52905	1.665	0.30123	N	0.805474	D	0.71674	0.998	P	0.54140	0.743	T	0.45366	-0.9266	10	0.35671	T	0.21	-16.8257	8.6972	0.34303	0.1016:0.0:0.8984:0.0	.	213	Q8IWZ5	TRI42_HUMAN	H	213	ENSP00000286349:R213H	ENSP00000286349:R213H	R	+	2	0	0	TRIM42	141884290	141884290	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.158000	0.42329	2.435000	0.82474	0.561000	0.74099	CGT	0.368421		TCGA-FB-A5VM-01A-11D-A32N-08	0.612	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	1	0	1	2	2	2	6	0	0	0	0	91	91	91	91	1	1.920000	-20.000000	1	0.280000	NM_152616		0	76	76	0	569	566	1		1		1	0	1	91	634	0	1.000000	0	1	0	97	0	639	76	569
OR5K3	403277	broad.mit.edu	37	3	98109887	98109887	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:98109887A>G	ENST00000383695.1	+	1	378	c.378A>G	c.(376-378)atA>atG	p.I126M	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATGTGGCCATATGCAACCCAC	0.478																																						ENST00000383695.1	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				27						c.(376-378)atA>atG		olfactory receptor, family 5, subfamily K, member 3							172.0	162.0	165.0					3																	98109887		2203	4300	6503	SO:0001583	missense	403277	5	121412	41				g.chr3:98109887A>G		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.378A>G	chr3.hg19:g.98109887A>G	ENSP00000373194:p.Ile126Met	1					RP11-325B23.2_ENST00000508616.1_lincRNA	p.I126M	NM_001005516.1	NP_001005516.1	1	2	3	2.319513	A6NET4	OR5K3_HUMAN		1	378	+				Missense_Mutation	SNP	ENST00000383695.1	1	1	hg19	c.378A>G	CCDS33803.1	1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056919	0.55325	.	.	ENSG00000206536	ENST00000383695	T	0.59083	0.29	5.15	-2.93	0.05598	5.15	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	0.331813	0.21303	N	0.076767	T	0.80082	0.4558	H	0.98238	4.18	0.25262	N	0.98958	D	0.89917	1.0	D	0.97110	1.0	T	0.70894	-0.4748	10	0.87932	D	0	-61.4606	8.1546	0.31160	0.2367:0.5363:0.0:0.2271	.	126	A6NET4	OR5K3_HUMAN	M	126	ENSP00000373194:I126M	ENSP00000373194:I126M	I	+	3	3	3	OR5K3	99592577	99592577	0.004000	0.15560	0.808000	0.32385	0.947000	0.59692	-1.359000	0.02602	-0.708000	0.05015	0.491000	0.48974	ATA	0.368421		TCGA-FB-A5VM-01A-11D-A32N-08	0.478	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1	1	0	1	2	2	2	2	0	0	0	0	94	94	94	92	1	1.920000	-20.000000	1	0.280000			0	144	144	0	500	495	1		1			0	0	94	0	0	1.000000	0	0	0	0	0	0	144	500
SPATA16	83893	broad.mit.edu	37	3	172643179	172643179	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:172643179T>G	ENST00000351008.3	-	7	1368	c.1185A>C	c.(1183-1185)aaA>aaC	p.K395N		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	395					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTTCCAAAAATTTTCCATCAT	0.408																																						ENST00000351008.3	1.000000	0.620000	1.000000	0.760000	0.920000	0.897307	0.920000	1.000000																										0				43						c.(1183-1185)aaA>aaC		spermatogenesis associated 16							74.0	74.0	74.0					3																	172643179		2203	4300	6503	SO:0001583	missense	83893	0	0					g.chr3:172643179T>G	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1185A>C	chr3.hg19:g.172643179T>G	ENSP00000341765:p.Lys395Asn	1						p.K395N	NM_031955.5	NP_114161.3	1	2	3	2.319513	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)	7	1368	-	Ovarian(172;0.00319)|Breast(254;0.197)		Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	1	0	hg19	c.1185A>C	CCDS3221.1	1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261858	0.59431	.	.	ENSG00000144962	ENST00000351008	T	0.24350	1.86	5.3	1.47	0.22746	5.3	1.47	0.22746	.	0.075584	0.56097	D	0.000029	T	0.28234	0.0697	L	0.32530	0.975	0.27421	N	0.954285	D	0.54964	0.969	P	0.55455	0.776	T	0.09079	-1.0691	10	0.72032	D	0.01	-12.8705	8.3366	0.32219	0.0:0.2297:0.0:0.7703	.	395	Q9BXB7	SPT16_HUMAN	N	395	ENSP00000341765:K395N	ENSP00000341765:K395N	K	-	3	2	2	SPATA16	174125873	174125873	1.000000	0.71417	0.985000	0.45067	0.788000	0.44548	0.492000	0.22435	0.059000	0.16252	-0.371000	0.07208	AAA	0.368421		TCGA-FB-A5VM-01A-11D-A32N-08	0.408	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	1	0	1	2	2	2	2	0	0	0	0	41	41	41	40	1	1.920000	-11.834820	1	0.280000	NM_031955		0	26	26	0	204	201	1		1			0	0	41	0	0	1.000000	0	0	0	0	0	0	26	204
EVC	2121	broad.mit.edu	37	4	5798842	5798842	+	Silent	SNP	G	G	A	rs537471996	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:5798842G>A	ENST00000264956.6	+	14	2164	c.1980G>A	c.(1978-1980)acG>acA	p.T660T	EVC_ENST00000382674.2_Silent_p.T660T|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	660					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCACCCTGACGCAGATGCGGC	0.672													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18527	0.0		0.0	False		,,,				2504	0.0					ENST00000264956.6	1.000000	0.720000	1.000000	0.840000	0.980000	0.939380	0.980000	1.000000																										0				28						c.(1978-1980)acG>acA		Ellis van Creveld syndrome							42.0	41.0	42.0					4																	5798842		2202	4300	6502	SO:0001819	synonymous_variant	2121	6	121382	35				g.chr4:5798842G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1980G>A	chr4.hg19:g.5798842G>A		0					EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Silent_p.T660T	p.T660T	NM_153717.2	NP_714928.1	1	2	3	2.032823	P57679	EVC_HUMAN		14	2164	+		Myeloproliferative disorder(84;0.117)		Silent	SNP	ENST00000264956.6	1	1	hg19	c.1980G>A	CCDS3383.1	1																																																																																								0.282010		TCGA-FB-A5VM-01A-11D-A32N-08	0.672	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1	1	0	1	2	2	2	2	0	0	0	0	55	55	55	55	1	1.920000	-20.000000	1	0.280000			0	41	41	0	258	257	1		1			0	0	55	0	0	1.000000	0	0	0	0	0	0	41	258
GABRB1	2560	broad.mit.edu	37	4	47163392	47163392	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:47163392T>C	ENST00000295454.3	+	4	659	c.367T>C	c.(367-369)Ttt>Ctt	p.F123L	GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	123					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACACCTACTTTCTGAATGA	0.443																																						ENST00000295454.3	1.000000	0.700000	1.000000	0.790000	0.880000	0.887677	0.880000	1.000000																										0				44						c.(367-369)Ttt>Ctt		gamma-aminobutyric acid (GABA) A receptor, beta 1	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)						160.0	155.0	157.0					4																	47163392		2203	4300	6503	SO:0001583	missense	2560	0	0					g.chr4:47163392T>C		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.367T>C	chr4.hg19:g.47163392T>C	ENSP00000295454:p.Phe123Leu	0					GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L	p.F123L	NM_000812.3	NP_000803.2	1	2	3	2.032823	P18505	GBRB1_HUMAN		4	659	+			B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	1	1	hg19	c.367T>C	CCDS3474.1	1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740563	0.89573	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.73363	-0.74;-0.74;-0.74	5.01	5.01	0.66863	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.86163	0.5867	M	0.82193	2.58	0.58432	D	0.999997	D;D	0.62365	0.991;0.979	P;D	0.74023	0.86;0.982	D	0.87603	0.2498	10	0.54805	T	0.06	-13.1774	14.0523	0.64745	0.0:0.0:0.0:1.0	.	53;123	F5GXV5;P18505	.;GBRB1_HUMAN	L	90;123;53	ENSP00000426753:F90L;ENSP00000295454:F123L;ENSP00000440330:F53L	ENSP00000295454:F123L	F	+	1	0	0	GABRB1	46858149	46858149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.109000	0.64355	0.528000	0.53228	TTT	0.282010		TCGA-FB-A5VM-01A-11D-A32N-08	0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	1	0	1	2	2	2	2	0	0	0	0	124	124	124	123	1	1.920000	-20.000000	1	0.280000			0	71	70	0	501	497	1		1	0		0	0	124	0	0	1.000000	0	0	0	0	1	0	71	501
LRRC66	339977	broad.mit.edu	37	4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A	rs543351323	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463													G|||	5	0.000998403	0.0	0.0	5008	,	,		18476	0.0		0.0	False		,,,				2504	0.0051					ENST00000343457.3	0.340000	0.050000	0.230000	0.090000	0.150000	0.171248	0.150000	0.140000																										0				58						c.(2455-2457)cCg>cTg		leucine rich repeat containing 66							65.0	67.0	66.0					4																	52860732		1885	4114	5999	SO:0001583	missense	339977	168	120832	51				g.chr4:52860732G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2456C>T	chr4.hg19:g.52860732G>A	ENSP00000341944:p.Pro819Leu	0						p.P819L	NM_001024611.1	NP_001019782.1	1	2	3	2.032823	Q68CR7	LRC66_HUMAN		4	2462	-				Missense_Mutation	SNP	ENST00000343457.3	0	1	hg19	c.2456C>T	CCDS43229.1	0	.	.	.	.	.	.	.	.	.	.	G	1.908	-0.451422	0.04572	.	.	ENSG00000188993	ENST00000343457	T	0.33216	1.42	4.67	1.01	0.19927	4.67	1.01	0.19927	.	0.968471	0.08482	N	0.939308	T	0.17066	0.0410	N	0.16656	0.425	0.09310	N	1	B	0.20550	0.046	B	0.13407	0.009	T	0.33163	-0.9879	10	0.18276	T	0.48	-0.8776	7.5126	0.27583	0.3337:0.0:0.6663:0.0	.	819	Q68CR7	LRC66_HUMAN	L	819	ENSP00000341944:P819L	ENSP00000341944:P819L	P	-	2	0	0	LRRC66	52555489	52555489	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.670000	0.25157	0.038000	0.15604	-1.556000	0.00890	CCG	0.282010		TCGA-FB-A5VM-01A-11D-A32N-08	0.463	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	0	0	1	2	2	2	2	0	0	0	0	40	40	40	40	1	1.920000	-2.719341	1	0.280000	NM_001024611		0	5	5	0	254	254	0		1			0	0	40	0	0	0.938138	0	0	0	0	0	0	5	254
MTHFD2L	441024	broad.mit.edu	37	4	75041057	75041057	+	Missense_Mutation	SNP	G	G	A	rs201351553		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:75041057G>A	ENST00000395759.2	+	3	415	c.388G>A	c.(388-390)Gta>Ata	p.V130I	MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	130					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ACTTTTGGACGTAACTGATCA	0.368																																						ENST00000395759.2	0.280000	0.040000	0.190000	0.070000	0.120000	0.145941	0.120000	0.120000																										0				8						c.(388-390)Gta>Ata		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							140.0	136.0	138.0					4																	75041057		2203	4300	6503	SO:0001583	missense	441024	3	121402	37				g.chr4:75041057G>A	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.388G>A	chr4.hg19:g.75041057G>A	ENSP00000379108:p.Val130Ile	0					MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000433372.1_5'UTR	p.V130I	NM_001144978.1	NP_001138450.1	1	2	3	2.032823	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)	3	415	+			Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	0	1	hg19	c.388G>A	CCDS47075.1	0	.	.	.	.	.	.	.	.	.	.	A	7.970	0.748962	0.15710	.	.	ENSG00000163738	ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T	0.29917	1.97;1.56;1.55;1.98	5.36	5.36	0.76844	5.36	5.36	0.76844	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.213853	0.50627	N	0.000109	T	0.16642	0.0400	N	0.16201	0.385	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.08973	-1.0696	10	0.28530	T	0.3	-29.7782	6.9337	0.24455	0.8268:0.0:0.1732:0.0	.	130;72	Q9H903;Q9H903-3	MTD2L_HUMAN;.	I	130;72;72;72	ENSP00000379108:V130I;ENSP00000330982:V72I;ENSP00000352012:V72I;ENSP00000321984:V72I	ENSP00000321984:V72I	V	+	1	0	0	MTHFD2L	75259921	75259921	0.039000	0.19947	0.997000	0.53966	0.849000	0.48306	0.068000	0.14531	1.067000	0.40740	-0.268000	0.10319	GTA	0.282010		TCGA-FB-A5VM-01A-11D-A32N-08	0.368	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	65	65	65	63	1	1.920000	-2.818194	1	0.280000	NM_001004346		0	5	5	0	303	303	0		1	0		0	0	65	0	0	0.938036	0	0	0	0	1	0	5	303
IBSP	3381	broad.mit.edu	37	4	88732603	88732603	+	Silent	SNP	C	C	T	rs200405481		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:88732603C>T	ENST00000226284.5	+	7	562	c.495C>T	c.(493-495)agC>agT	p.S165S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	165	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.S165S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.458																																						ENST00000226284.5	1.000000	0.620000	1.000000	0.790000	0.990000	0.922257	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S165S(1)	large_intestine(1)	21						c.(493-495)agC>agT		integrin-binding sialoprotein							137.0	127.0	131.0					4																	88732603		2203	4300	6503	SO:0001819	synonymous_variant	3381	0	0					g.chr4:88732603C>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.495C>T	chr4.hg19:g.88732603C>T		0						p.S165S	NM_004967.3	NP_004958.2	1	2	3	2.032823	P21815	SIAL_HUMAN		7	562	+		Hepatocellular(203;0.114)		Silent	SNP	ENST00000226284.5	1	1	hg19	c.495C>T	CCDS3624.1	1																																																																																								0.282010		TCGA-FB-A5VM-01A-11D-A32N-08	0.458	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2	1	0	1	2	2	2	2	0	0	0	0	25	25	25	25	1	1.920000	-10.221070	1	0.280000			0	17	16	0	105	102	0		1	0		0	0	25	0	0	0.999968	1.046122e-01	0	0	0	4	0	17	105
KIAA0922	23240	broad.mit.edu	37	4	154542991	154542991	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:154542991G>T	ENST00000409663.3	+	28	3898	c.3846G>T	c.(3844-3846)caG>caT	p.Q1282H	KIAA0922_ENST00000409959.3_Missense_Mutation_p.Q1283H|KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1282						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGCTGCCCAGAGAGAGGCAG	0.423																																						ENST00000409663.3	1.000000	0.470000	0.880000	0.590000	0.720000	0.737916	0.720000	1.000000																										0				63						c.(3844-3846)caG>caT		KIAA0922							104.0	99.0	101.0					4																	154542991		2203	4300	6503	SO:0001583	missense	23240	0	0					g.chr4:154542991G>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3846G>T	chr4.hg19:g.154542991G>T	ENSP00000386574:p.Gln1282His	1					KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H|KIAA0922_ENST00000409959.3_Missense_Mutation_p.Q1283H	p.Q1282H	NM_015196.3	NP_056011.3	0	1	1	1.796882	A2VDJ0	T131L_HUMAN		28	3898	+	all_hematologic(180;0.093)	Renal(120;0.118)	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	1	1	hg19	c.3846G>T	CCDS3783.2	0	.	.	.	.	.	.	.	.	.	.	G	10.72	1.431059	0.25726	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19394	2.42;2.15;2.42;2.15	5.16	3.08	0.35506	5.16	3.08	0.35506	.	0.507289	0.20653	N	0.088171	T	0.28962	0.0719	L	0.43152	1.355	0.24200	N	0.995515	D;P;P	0.71674	0.998;0.925;0.877	P;P;P	0.62560	0.904;0.667;0.467	T	0.04053	-1.0981	10	0.31617	T	0.26	-3.8639	7.293	0.26376	0.1656:0.0:0.6948:0.1396	.	1199;1283;1282	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	H	1282;1199;1283;1060	ENSP00000386574:Q1282H;ENSP00000409663:Q1199H;ENSP00000386787:Q1283H;ENSP00000240487:Q1060H	ENSP00000240487:Q1060H	Q	+	3	2	2	KIAA0922	154762441	154762441	1.000000	0.71417	0.947000	0.38551	0.251000	0.25915	1.834000	0.39171	1.173000	0.42796	0.655000	0.94253	CAG	0.174880		TCGA-FB-A5VM-01A-11D-A32N-08	0.423	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	1	0	1	2	2	2	2	0	0	0	0	38	38	38	38	1	1.920000	-20.000000	1	0.280000	NM_015196		0	21	21	0	156	154	1		1	1		0	0	38	0	0	0.999998	7.546089e-01	0	4	0	18	0	21	156
ADAMTS16	170690	broad.mit.edu	37	5	5235183	5235183	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:5235183A>G	ENST00000274181.7	+	13	2045	c.1907A>G	c.(1906-1908)aAc>aGc	p.N636S	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	636	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAGCTCTGCAACAGTCAGAAA	0.502																																						ENST00000274181.7	0.960000	0.530000	0.860000	0.620000	0.730000	0.746613	0.730000	0.730000																										0				107						c.(1906-1908)aAc>aGc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							72.0	76.0	75.0					5																	5235183		1942	4134	6076	SO:0001583	missense	170690	0	0					g.chr5:5235183A>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1907A>G	chr5.hg19:g.5235183A>G	ENSP00000274181:p.Asn636Ser	1					ADAMTS16_ENST00000513709.1_3'UTR	p.N636S	NM_139056.2	NP_620687.2	1	2	3	2.325338	Q8TE57	ATS16_HUMAN		13	2045	+			C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	1	1	hg19	c.1907A>G	CCDS43299.1	0	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595341	0.66219	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.05319	3.46	4.67	2.19	0.27852	4.67	2.19	0.27852	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.80422	2.495	0.58432	D	0.999993	P;P	0.50528	0.805;0.936	P;P	0.55713	0.492;0.782	T	0.00423	-1.1748	10	0.56958	D	0.05	.	6.7912	0.23701	0.7648:0.1522:0.083:0.0	.	636;636	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	S	636	ENSP00000274181:N636S	ENSP00000274181:N636S	N	+	2	0	0	ADAMTS16	5288183	5288183	1.000000	0.71417	0.986000	0.45419	0.793000	0.44817	4.860000	0.62961	0.243000	0.21327	0.533000	0.62120	AAC	0.368421		TCGA-FB-A5VM-01A-11D-A32N-08	0.502	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	1	0	1	2	2	2	2	0	0	0	0	70	70	70	70	1	1.920000	-12.541270	1	0.280000	NM_139056		0	39	39	0	393	388	0		1			0	0	70	0	0	1.000000	0	0	0	0	0	0	39	393
FAM105A	54491	broad.mit.edu	37	5	14610393	14610393	+	Silent	SNP	C	C	T	rs200729060	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:14610393C>T	ENST00000274217.3	+	8	1161	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	347	OTU.							p.N347N(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGACCGAGAACGACCGCCACT	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		15262	0.0		0.001	False		,,,				2504	0.001					ENST00000274217.3	0.930000	0.500000	0.830000	0.600000	0.700000	0.717923	0.700000	0.700000																										1	Substitution - coding silent(1)	p.N347N(1)	lung(1)	11						c.(1039-1041)aaC>aaT		family with sequence similarity 105, member A							45.0	48.0	47.0					5																	14610393		2203	4300	6503	SO:0001819	synonymous_variant	54491	2	121410	30				g.chr5:14610393C>T		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.1041C>T	chr5.hg19:g.14610393C>T		1						p.N347N	NM_019018.2	NP_061891.1	1	2	3	2.325338	Q9NUU6	F105A_HUMAN		8	1161	+	Lung NSC(4;0.00592)		Q53H50|Q9H037	Silent	SNP	ENST00000274217.3	1	1	hg19	c.1041C>T	CCDS3884.1	0																																																																																								0.368421		TCGA-FB-A5VM-01A-11D-A32N-08	0.532	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	1	0	1	2	2	2	2	0	0	0	0	57	57	57	55	1	1.920000	-3.318794	1	0.280000	NM_019018		0	37	36	0	390	380	0		1	0		0	0	57	0	0	1.000000	7.474746e-01	0	1	0	29	0	37	390
KLHL3	26249	broad.mit.edu	37	5	136997650	136997650	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:136997650A>G	ENST00000309755.4	-	7	1150	c.707T>C	c.(706-708)aTg>aCg	p.M236T	KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T|KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000508657.1_Missense_Mutation_p.M204T|KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	236	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GACATGTTCCATCAGCTTTGC	0.443																																						ENST00000309755.4	1.000000	0.750000	0.980000	0.840000	0.930000	0.920271	0.930000	0.990000																										0				21						c.(706-708)aTg>aCg		kelch-like family member 3							165.0	138.0	147.0					5																	136997650		2203	4300	6503	SO:0001583	missense	26249	0	0					g.chr5:136997650A>G	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.707T>C	chr5.hg19:g.136997650A>G	ENSP00000312397:p.Met236Thr	1					KLHL3_ENST00000508657.1_Missense_Mutation_p.M204T|KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T	p.M236T	NM_017415.2	NP_059111.2	0	1	1	1.750197	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	7	1150	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	1	1	hg19	c.707T>C	CCDS4192.1	1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343183	0.82022	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.99	4.99	0.66335	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.90650	3.135	0.80722	D	1	P;D;P;D;D	0.67145	0.858;0.996;0.848;0.996;0.976	B;D;P;D;D	0.68621	0.412;0.944;0.511;0.959;0.932	D	0.87765	0.2601	10	0.87932	D	0	.	15.1492	0.72684	1.0:0.0:0.0:0.0	.	5;196;204;236;236	B7Z6E2;D6RH21;Q9UH77-2;Q9UH77;Q8N4I8	.;.;.;KLHL3_HUMAN;.	T	154;204;236;116;196;236	ENSP00000424828:M154T;ENSP00000422099:M204T;ENSP00000312397:M236T;ENSP00000440319:M116T;ENSP00000426173:M196T;ENSP00000378395:M236T	ENSP00000312397:M236T	M	-	2	0	0	KLHL3	137025549	137025549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.036000	0.93758	2.234000	0.73211	0.533000	0.62120	ATG	0.162791		TCGA-FB-A5VM-01A-11D-A32N-08	0.443	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2	1	0	1	2	2	2	2	0	0	0	0	54	54	54	54	1	1.920000	-20.000000	1	0.280000			0	46	46	0	214	212	1		1			0	0	54	0	0	1.000000	0	0	0	0	0	0	46	214
HIVEP1	3096	broad.mit.edu	37	6	12121002	12121002	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:12121002T>C	ENST00000379388.2	+	4	1306	c.974T>C	c.(973-975)gTt>gCt	p.V325A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	325					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGAACAGGTTTATAATATA	0.423																																						ENST00000379388.2	1.000000	0.920000	1.000000	0.990000	0.990000	0.994896	0.990000	1.000000																										0				90						c.(973-975)gTt>gCt		human immunodeficiency virus type I enhancer binding protein 1							112.0	105.0	107.0					6																	12121002		1937	4138	6075	SO:0001583	missense	3096	0	0					g.chr6:12121002T>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.974T>C	chr6.hg19:g.12121002T>C	ENSP00000368698:p.Val325Ala	0						p.V325A	NM_002114.2	NP_002105.2	0	0	0	2.002174	P15822	ZEP1_HUMAN		4	1306	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	1	1	hg19	c.974T>C	CCDS43426.1	1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762438	0.31228	.	.	ENSG00000095951	ENST00000379388	T	0.08370	3.1	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.511841	0.14674	N	0.305158	T	0.03434	0.0099	L	0.31926	0.97	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	T	0.41893	-0.9483	9	.	.	.	-8.7034	15.942	0.79763	0.0:0.0:0.0:1.0	.	325	P15822	ZEP1_HUMAN	A	325	ENSP00000368698:V325A	.	V	+	2	0	0	HIVEP1	12228988	12228988	0.950000	0.32346	0.071000	0.20095	0.594000	0.36715	2.109000	0.41863	2.162000	0.67917	0.533000	0.62120	GTT	0.271845		TCGA-FB-A5VM-01A-11D-A32N-08	0.423	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	1	0	1	2	2	2	2	0	0	0	0	104	104	104	104	1	1.920000	-20.000000	1	0.280000	NM_002114		0	91	90	0	478	474	1		1		1	0	0	104	366	0	1.000000	0	1	0	71	0	247	91	478
BTN3A1	11119	broad.mit.edu	37	6	26413540	26413540	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:26413540G>A	ENST00000289361.6	+	10	1530	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	388	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTCGGCTGTGAGAGCTTCAT	0.512																																						ENST00000289361.6	1.000000	0.660000	0.940000	0.750000	0.840000	0.848374	0.840000	1.000000																										0				28						c.(1162-1164)Gag>Aag		butyrophilin, subfamily 3, member A1							141.0	149.0	146.0					6																	26413540		2203	4300	6503	SO:0001583	missense	11119	0	0					g.chr6:26413540G>A	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1162G>A	chr6.hg19:g.26413540G>A	ENSP00000289361:p.Glu388Lys	0					BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K	p.E388K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	0	0	0	2.002174	O00481	BT3A1_HUMAN		10	1530	+			A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	1	1	hg19	c.1162G>A	CCDS4608.1	0	.	.	.	.	.	.	.	.	.	.	.	12.68	2.010049	0.35415	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.15017	2.46;2.46	2.96	1.08	0.20341	2.96	1.08	0.20341	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03520	0.0101	N	0.25992	0.78	0.19300	N	0.999971	B;B	0.18461	0.028;0.028	B;B	0.17722	0.019;0.012	T	0.42949	-0.9421	9	0.44086	T	0.13	.	6.0568	0.19816	0.3689:0.0:0.6311:0.0	.	336;388	E9PGB4;O00481	.;BT3A1_HUMAN	K	388;336	ENSP00000289361:E388K;ENSP00000406667:E336K	ENSP00000289361:E388K	E	+	1	0	0	BTN3A1	26521519	26521519	0.131000	0.22433	0.000000	0.03702	0.003000	0.03518	0.910000	0.28571	0.080000	0.16959	0.609000	0.83330	GAG	0.271845		TCGA-FB-A5VM-01A-11D-A32N-08	0.512	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3	1	0	1	2	2	2	2	0	0	0	0	117	117	117	117	1	1.920000	-19.999990	1	0.280000			0	69	69	0	507	499	1		1	0		0	0	117	0	0	1.000000	2.518982e-01	0	0	0	8	0	69	507
KIFC1	3833	broad.mit.edu	37	6	33374225	33374225	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33374225T>C	ENST00000428849.2	+	8	2239	c.1789T>C	c.(1789-1791)Tcc>Ccc	p.S597P		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	597	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAGCAGCCTGTCCACGCTGGG	0.637																																						ENST00000428849.2	1.000000	0.670000	1.000000	0.780000	0.900000	0.893697	0.900000	1.000000																										0				13						c.(1789-1791)Tcc>Ccc		kinesin family member C1							38.0	42.0	41.0					6																	33374225		2203	4300	6503	SO:0001583	missense	3833	0	0					g.chr6:33374225T>C	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1789T>C	chr6.hg19:g.33374225T>C	ENSP00000393963:p.Ser597Pro	0						p.S597P	NM_002263.3	NP_002254.2	1	2	3	2.035096	Q9BW19	KIFC1_HUMAN		8	2239	+			O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	1	1	hg19	c.1789T>C	CCDS34430.1	1	.	.	.	.	.	.	.	.	.	.	t	21.4	4.145930	0.77888	.	.	ENSG00000237649	ENST00000428849	T	0.76839	-1.05	5.22	5.22	0.72569	5.22	5.22	0.72569	Kinesin, motor domain (3);	0.057178	0.64402	D	0.000001	D	0.90133	0.6917	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.92850	0.6296	10	0.87932	D	0	-1.8945	13.1064	0.59249	0.0:0.0:0.0:1.0	.	589;597	B4E063;Q9BW19	.;KIFC1_HUMAN	P	597	ENSP00000393963:S597P	ENSP00000393963:S597P	S	+	1	0	0	KIFC1	33482203	33482203	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.048000	0.49862	2.189000	0.69895	0.456000	0.33151	TCC	0.284010		TCGA-FB-A5VM-01A-11D-A32N-08	0.637	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	1	0	1	2	2	2	2	0	0	0	0	91	91	91	90	1	1.920000	-20.000000	1	0.280000	NM_002263		0	44	43	0	307	305	1		1	1		0	0	91	0	0	1.000000	9.999787e-01	0	38	0	75	0	44	307
MDN1	23195	broad.mit.edu	37	6	90422465	90422465	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:90422465C>T	ENST00000369393.3	-	48	7374	c.7259G>A	c.(7258-7260)cGa>cAa	p.R2420Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2420					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATGTGCTCGCAAAGAAGA	0.448																																						ENST00000369393.3	1.000000	0.620000	1.000000	0.730000	0.860000	0.864014	0.860000	1.000000																										0				218						c.(7258-7260)cGa>cAa		MDN1, midasin homolog (yeast)							71.0	68.0	69.0					6																	90422465		2203	4300	6503	SO:0001583	missense	23195	4	121412	36				g.chr6:90422465C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7259G>A	chr6.hg19:g.90422465C>T	ENSP00000358400:p.Arg2420Gln	0					MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q	p.R2420Q			1	2	3	2.035096	Q9NU22	MDN1_HUMAN		48	7374	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	1	1	hg19	c.7259G>A	CCDS5024.1	1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093904	0.20471	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02837	4.14;4.14	5.62	-6.75	0.01738	5.62	-6.75	0.01738	.	1.628850	0.03584	N	0.230613	T	0.00524	0.0017	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.47649	-0.9101	10	0.13108	T	0.6	.	6.2293	0.20726	0.0757:0.219:0.127:0.5784	.	2420	Q9NU22	MDN1_HUMAN	Q	2420	ENSP00000358400:R2420Q;ENSP00000413970:R2420Q	ENSP00000358400:R2420Q	R	-	2	0	0	MDN1	90479186	90479186	0.000000	0.05858	0.005000	0.12908	0.504000	0.33889	-1.025000	0.03600	-0.943000	0.03691	0.467000	0.42956	CGA	0.284010		TCGA-FB-A5VM-01A-11D-A32N-08	0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0	0	1	2	2	2	2	0	0	0	0	45	45	45	44	1	1.920000	-2.841729	1	0.280000			0	37	37	0	271	269	1		1			0	0	45	0	0	1.000000	0	0	0	0	0	0	37	271
SLC16A10	117247	broad.mit.edu	37	6	111493921	111493921	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:111493921G>T	ENST00000368851.5	+	2	542	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	123					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCTCTCCATGGGGATGATTTT	0.428																																						ENST00000368851.5	1.000000	0.260000	0.520000	0.330000	0.420000	0.443874	0.420000	0.410000																										0				12						c.(367-369)Ggg>Tgg		solute carrier family 16 (aromatic amino acid transporter), member 10	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)						156.0	143.0	148.0					6																	111493921		2203	4300	6503	SO:0001583	missense	117247	0	0					g.chr6:111493921G>T	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.367G>T	chr6.hg19:g.111493921G>T	ENSP00000357844:p.Gly123Trp	0					SLC16A10_ENST00000465319.1_3'UTR	p.G123W	NM_018593.4	NP_061063.2	1	2	3	2.035096	Q8TF71	MOT10_HUMAN		2	542	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	1	1	hg19	c.367G>T	CCDS5089.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.741282|4.741282	0.89573|0.89573	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853|ENST00000419619;ENST00000439288	T|.	0.56103|.	0.48|.	5.65|5.65	5.65|5.65	0.86999|0.86999	5.65|5.65	5.65|5.65	0.86999|0.86999	Major facilitator superfamily domain, general substrate transporter (1);|.	0.092388|.	0.85682|.	D|.	0.000000|.	D|D	0.85344|0.85344	0.5675|0.5675	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.88182|0.88182	0.2871|0.2871	10|5	0.87932|.	D|.	0|.	.|.	19.7204|19.7204	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	123;123|.	Q8TF71;Q05BR4|.	MOT10_HUMAN;.|.	W|C	123;123;14|8	ENSP00000357844:G123W|.	ENSP00000357844:G123W|.	G|W	+|+	1|3	0|0	0|0	SLC16A10|SLC16A10	111600614|111600614	111600614|111600614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.414000|9.414000	0.97362|0.97362	2.662000|2.662000	0.90505|0.90505	0.491000|0.491000	0.48974|0.48974	GGG|TGG	0.284010		TCGA-FB-A5VM-01A-11D-A32N-08	0.428	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2	1	0	1	2	2	2	2	0	0	0	0	80	80	80	80	1	1.920000	-2.389317	0	0.280000			0	22	23	0	360	355	0		1	0		0	0	80	0	0	0.999999	2.051674e-02	0	0	0	4	0	22	360
SLC12A9	56996	broad.mit.edu	37	7	100460407	100460407	+	Missense_Mutation	SNP	G	G	A	rs368545922		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:100460407G>A	ENST00000354161.3	+	13	1941	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	606					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCACCCTCCGTGCGCCAGGG	0.637																																						ENST00000354161.3	1.000000	0.840000	1.000000	0.920000	0.990000	0.974204	0.990000	1.000000																										0				41						c.(1816-1818)Gtg>Atg		solute carrier family 12, member 9							130.0	107.0	115.0					7																	100460407		2203	4300	6503	SO:0001583	missense	56996	2	121412	36				g.chr7:100460407G>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1816G>A	chr7.hg19:g.100460407G>A	ENSP00000275730:p.Val606Met	0					SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M	p.V606M	NM_020246.3	NP_064631.2	1	2	3	2.047593	Q9BXP2	S12A9_HUMAN		13	1941	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	1	1	hg19	c.1816G>A	CCDS5707.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787707	0.90367	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.93953	-2.61;-2.61;-2.24;-2.24;-3.32	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.96315	0.8798	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.968	D	0.96645	0.9477	10	0.66056	D	0.02	.	16.1082	0.81241	0.0:0.0:1.0:0.0	.	517;606	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	M	606;606;517;517;606;232	ENSP00000443702:V606M;ENSP00000408301:V606M;ENSP00000275729:V517M;ENSP00000413796:V517M;ENSP00000275730:V606M	ENSP00000275729:V517M	V	+	1	0	0	SLC12A9	100298343	100298343	1.000000	0.71417	0.950000	0.38849	0.891000	0.51852	7.581000	0.82535	2.404000	0.81709	0.491000	0.48974	GTG	0.285998		TCGA-FB-A5VM-01A-11D-A32N-08	0.637	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	1	0	1	2	2	2	2	0	0	0	0	129	129	129	127	1	1.920000	-3.318805	1	0.280000	NM_020246		0	101	100	0	613	600	1		1	1		0	0	129	0	0	1.000000	9.999937e-01	0	38	0	65	0	101	613
ELMO1	9844	broad.mit.edu	37	7	36917614	36917614	+	Splice_Site	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:36917614C>T	ENST00000310758.4	-	19	2470		c.e19+1		ELMO1_ENST00000396045.3_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site|ELMO1_ENST00000396040.2_Splice_Site	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1						actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGCTACTTACGTTTGTCCTG	0.488																																						ENST00000310758.4	1.000000	0.480000	0.990000	0.620000	0.790000	0.794529	0.790000	1.000000																										0				58						c.e19+1		engulfment and cell motility 1							99.0	80.0	87.0					7																	36917614		2203	4300	6503	SO:0001630	splice_region_variant	9844	0	0					g.chr7:36917614C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1822+1G>A	chr7.hg19:g.36917614C>T		0					ELMO1_ENST00000396040.2_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site|ELMO1_ENST00000396045.3_Splice_Site		NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	1	2	3	2.026740	Q92556	ELMO1_HUMAN		19	2470	-			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Splice_Site	SNP	ENST00000310758.4	1	1	hg19		CCDS5449.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.112821	0.94339	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	.	.	.	5.81	5.81	0.92471	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ELMO1	36884139	36884139	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	7.399000	0.79935	2.756000	0.94617	0.655000	0.94253	.	0.282010		TCGA-FB-A5VM-01A-11D-A32N-08	0.488	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	1	0	1	2	2	2	2	0	0	0	0	32	32	32	32	1	1.920000	-19.999990	1	0.280000	NM_130442	Intron	0	17	16	0	138	133	1		1			0	0	32	0	0	0.999964	0	0	0	0	0	0	17	138
ABCA13	154664	broad.mit.edu	37	7	48315041	48315041	+	Silent	SNP	G	G	A	rs192083637	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:48315041G>A	ENST00000435803.1	+	17	5802	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1926					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGATATTACCGTTTGTCCCAC	0.373													g|||	6	0.00119808	0.0023	0.0	5008	,	,		18660	0.0		0.003	False		,,,				2504	0.0					ENST00000435803.1	1.000000	0.930000	1.000000	0.990000	0.990000	0.996243	0.990000	1.000000																										0				270						c.(5776-5778)ccG>ccA		ATP-binding cassette, sub-family A (ABC1), member 13		G		14,3646		0,14,1816	123.0	125.0	124.0		5778	-5.5	0.0	7		124	26,8146		0,26,4060	no	coding-synonymous	ABCA13	NM_152701.3		0,40,5876	AA,AG,GG		0.3182,0.3825,0.3381		1926/5059	48315041	40,11792	1830	4086	5916	SO:0001819	synonymous_variant	154664	231	120802	59				g.chr7:48315041G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5778G>A	chr7.hg19:g.48315041G>A		0						p.P1926P	NM_152701.3	NP_689914.2	1	2	3	2.038903	Q86UQ4	ABCAD_HUMAN		17	5802	+			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	1	0	hg19	c.5778G>A	CCDS47584.1	1																																																																																								0.284010		TCGA-FB-A5VM-01A-11D-A32N-08	0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	0	0	1	2	16	2	2	1	1	1	1	141	141	141	140	1	1.920000	-4.804042	1	0.280000	NM_152701		0	98	97	0	521	518	1		1			1	0	141	0	0	1.000000	0	0	0	0	0	0	98	521
GJC3	349149	broad.mit.edu	37	7	99521174	99521174	+	Missense_Mutation	SNP	A	A	T	rs377442638		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:99521174A>T	ENST00000312891.2	-	2	833	c.834T>A	c.(832-834)gaT>gaA	p.D278E		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	278					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					caactcaggcatctctgggtc	0.388																																						ENST00000312891.2	1.000000	0.670000	1.000000	0.790000	0.920000	0.907519	0.920000	1.000000																										0				9						c.(832-834)gaT>gaA		gap junction protein, gamma 3, 30.2kDa							121.0	112.0	115.0					7																	99521174		2203	4300	6503	SO:0001583	missense	349149	0	0					g.chr7:99521174A>T	AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.834T>A	chr7.hg19:g.99521174A>T	ENSP00000325775:p.Asp278Glu	0						p.D278E	NM_181538.2	NP_853516.1	1	2	3	2.047593	Q8NFK1	CXG3_HUMAN		2	833	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	1	1	hg19	c.834T>A	CCDS34697.1	1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409331	0.42715	.	.	ENSG00000176402	ENST00000312891	D	0.97850	-4.57	0.235	-0.47	0.12131	0.235	-0.47	0.12131	.	.	.	.	.	D	0.91928	0.7444	N	0.08118	0	0.19575	N	0.999967	P	0.38711	0.643	B	0.43360	0.417	D	0.87092	0.2173	8	0.21540	T	0.41	.	.	.	.	.	278	Q8NFK1	CXG3_HUMAN	E	278	ENSP00000325775:D278E	ENSP00000325775:D278E	D	-	3	2	2	GJC3	99359110	99359110	0.157000	0.22836	0.581000	0.28614	0.590000	0.36582	-0.593000	0.05740	-0.738000	0.04817	-0.736000	0.03550	GAT	0.285998		TCGA-FB-A5VM-01A-11D-A32N-08	0.388	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	1	0	1	2	2	2	2	0	0	0	0	63	63	63	62	1	1.920000	-20.000000	1	0.280000	NM_181538		0	39	39	0	266	260	1		1	1		0	0	63	0	0	1.000000	3.312274e-01	0	4	0	5	0	39	266
CTTNBP2	83992	broad.mit.edu	37	7	117432633	117432633	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:117432633G>A	ENST00000160373.3	-	4	708	c.617C>T	c.(616-618)aCg>aTg	p.T206M	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	206					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAATTCATTCGTCTTTTTCTT	0.463																																						ENST00000160373.3	1.000000	0.850000	1.000000	0.970000	0.990000	0.985956	0.990000	1.000000																										0				83						c.(616-618)aCg>aTg		cortactin binding protein 2							144.0	134.0	137.0					7																	117432633		2203	4300	6503	SO:0001583	missense	83992	2	121412	38				g.chr7:117432633G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.617C>T	chr7.hg19:g.117432633G>A	ENSP00000160373:p.Thr206Met	0					CTTNBP2_ENST00000487820.1_5'Flank	p.T206M	NM_033427.2	NP_219499.1	1	2	3	2.047593	Q8WZ74	CTTB2_HUMAN		4	708	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	1	1	hg19	c.617C>T	CCDS5774.1	1	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396356	0.11638	.	.	ENSG00000077063	ENST00000160373	T	0.64260	-0.09	5.77	3.96	0.45880	5.77	3.96	0.45880	.	0.457226	0.27139	N	0.020745	T	0.59945	0.2231	M	0.71581	2.175	0.25918	N	0.983145	B	0.19445	0.036	B	0.20384	0.029	T	0.56553	-0.7960	10	0.54805	T	0.06	-14.2498	10.3555	0.43960	0.0669:0.2536:0.6795:0.0	.	206	Q8WZ74	CTTB2_HUMAN	M	206	ENSP00000160373:T206M	ENSP00000160373:T206M	T	-	2	0	0	CTTNBP2	117219869	117219869	0.591000	0.26824	0.005000	0.12908	0.249000	0.25844	2.379000	0.44318	0.899000	0.36444	0.650000	0.86243	ACG	0.285998		TCGA-FB-A5VM-01A-11D-A32N-08	0.463	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	1	0	1	2	2	2	2	0	0	0	0	60	60	60	59	1	1.920000	-19.999970	1	0.280000	NM_033427		0	51	51	0	279	276	1		1			0	0	60	0	0	1.000000	0	0	0	0	0	0	51	279
RP1L1	94137	broad.mit.edu	37	8	10470231	10470231	+	Silent	SNP	G	G	A	rs201173500		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:10470231G>A	ENST00000382483.3	-	4	1600	c.1377C>T	c.(1375-1377)acC>acT	p.T459T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	459					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGGGGAGGCCGGTGCTGGAGG	0.726																																						ENST00000382483.3	1.000000	0.790000	1.000000	0.890000	0.990000	0.962547	0.990000	1.000000																										0				148						c.(1375-1377)acC>acT		retinitis pigmentosa 1-like 1							27.0	34.0	32.0					8																	10470231		2000	4150	6150	SO:0001819	synonymous_variant	94137	0	0					g.chr8:10470231G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1377C>T	chr8.hg19:g.10470231G>A		0						p.T459T	NM_178857.5	NP_849188.4	1	2	3	2.079777	Q8IWN7	RP1L1_HUMAN		4	1600	-			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	1	1	hg19	c.1377C>T	CCDS43708.1	1																																																																																								0.291896		TCGA-FB-A5VM-01A-11D-A32N-08	0.726	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	1	0	1	2	2	2	2	0	0	0	0	111	111	111	111	1	1.920000	-2.841728	1	0.280000			0	71	70	0	445	439	1		1			0	0	111	0	0	1.000000	0	0	0	0	0	0	71	445
RIMS2	9699	broad.mit.edu	37	8	105026802	105026802	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:105026802G>A	ENST00000436393.2	+	17	2754	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q|RIMS2_ENST00000507740.1_Missense_Mutation_p.R912Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1160	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGAAGGGGCCGACAGCTTCCA	0.443										HNSCC(12;0.0054)																												ENST00000436393.2	1.000000	0.590000	1.000000	0.720000	0.870000	0.865491	0.870000	1.000000																										0				144						c.(2512-2514)cGa>cAa		regulating synaptic membrane exocytosis 2							72.0	78.0	76.0					8																	105026802		1923	4110	6033	SO:0001583	missense	9699	0	0					g.chr8:105026802G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2513G>A	chr8.hg19:g.105026802G>A	ENSP00000390665:p.Arg838Gln	0	HNSCC(12;0.0054)				RIMS2_ENST00000507740.1_Missense_Mutation_p.R912Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q	p.R838Q			0	1	1	2.014413	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)	17	2754	+			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	1	1	hg19	c.2513G>A		1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726423	0.89298	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.57273	0.41;2.37;2.07;1.98;0.65;1.18	5.63	5.63	0.86233	5.63	5.63	0.86233	.	.	.	.	.	T	0.68155	0.2970	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.997;0.974;0.996;0.993;0.996	T	0.69258	-0.5192	9	0.72032	D	0.01	.	19.6846	0.95976	0.0:0.0:1.0:0.0	.	1160;838;937;912;1098	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	1098;1135;1098;1160;937;912;912;838	ENSP00000427018:R1098Q;ENSP00000384892:R1098Q;ENSP00000262231:R937Q;ENSP00000423559:R912Q;ENSP00000386228:R912Q;ENSP00000390665:R838Q	ENSP00000262231:R937Q	R	+	2	0	0	RIMS2	105095978	105095978	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.175000	0.94831	2.652000	0.90054	0.591000	0.81541	CGA	0.277978		TCGA-FB-A5VM-01A-11D-A32N-08	0.443	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	1	0	1	2	2	2	2	0	0	0	0	44	44	44	43	1	1.920000	-3.222953	1	0.280000	NM_001100117		0	25	24	0	178	176	1		1			0	0	44	0	0	1.000000	0	0	0	0	0	0	25	178
KCNQ3	3786	broad.mit.edu	37	8	133142050	133142050	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133142050G>A	ENST00000388996.4	-	15	2498	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	693					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.E694fs*12(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGGTGGTTCCGGGGGGCCTGT	0.547																																						ENST00000388996.4	0.900000	0.490000	0.790000	0.580000	0.680000	0.691371	0.680000	0.670000																										1	Insertion - Frameshift(1)	p.E694fs*12(1)	lung(1)	70						c.(2077-2079)cCg>cTg		potassium voltage-gated channel, KQT-like subfamily, member 3	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)						89.0	79.0	82.0					8																	133142050		2203	4300	6503	SO:0001583	missense	3786	4	121412	38				g.chr8:133142050G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2078C>T	chr8.hg19:g.133142050G>A	ENSP00000373648:p.Pro693Leu	1					KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L	p.P693L	NM_004519.3	NP_004510.1	1	3	4	2.592854	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)	15	2498	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	1	1	hg19	c.2078C>T	CCDS34943.1	0	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189602	0.21954	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98901	-5.21;-5.17;-5.22	5.49	3.51	0.40186	5.49	3.51	0.40186	.	0.504521	0.23192	N	0.050897	D	0.91872	0.7427	N	0.08118	0	0.47737	D	0.999504	P;B	0.35328	0.495;0.178	B;B	0.17722	0.019;0.012	D	0.88843	0.3314	10	0.37606	T	0.19	-9.8678	3.0642	0.06209	0.0918:0.1206:0.4274:0.3601	.	681;693	E7ET42;O43525	.;KCNQ3_HUMAN	L	693;573;681;670;572	ENSP00000373648:P693L;ENSP00000429799:P573L;ENSP00000428790:P681L	ENSP00000373648:P693L	P	-	2	0	0	KCNQ3	133211232	133211232	0.989000	0.36119	0.712000	0.30502	0.718000	0.41266	2.135000	0.42112	1.330000	0.45394	0.549000	0.68633	CCG	0.436267		TCGA-FB-A5VM-01A-11D-A32N-08	0.547	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	0	0	1	2	2	2	2	0	0	0	0	84	84	84	82	1	1.920000	-2.239612	0	0.280000	NM_004519		0	42	41	0	522	514	0		1			0	0	84	0	0	1.000000	0	0	0	0	0	0	42	522
KCNQ3	3786	broad.mit.edu	37	8	133153411	133153411	+	Missense_Mutation	SNP	C	C	T	rs141821338		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133153411C>T	ENST00000388996.4	-	10	1850	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	477					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R477H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGCTTTCATGCGGAAGGCCGT	0.473																																						ENST00000388996.4	1.000000	0.720000	1.000000	0.820000	0.930000	0.919150	0.930000	1.000000																										1	Substitution - Missense(1)	p.R477H(1)	large_intestine(1)	70						c.(1429-1431)cGc>cAc		potassium voltage-gated channel, KQT-like subfamily, member 3	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)						119.0	124.0	122.0					8																	133153411		2203	4300	6503	SO:0001583	missense	3786	0	0					g.chr8:133153411C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1430G>A	chr8.hg19:g.133153411C>T	ENSP00000373648:p.Arg477His	1					KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H	p.R477H	NM_004519.3	NP_004510.1	1	3	4	2.592854	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)	10	1850	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	1	1	hg19	c.1430G>A	CCDS34943.1	1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011674	0.93346	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99735	-6.58;-6.58;-6.58	5.63	5.63	0.86233	5.63	5.63	0.86233	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.118141	0.56097	D	0.000027	D	0.99600	0.9855	M	0.64170	1.965	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98327	1.0531	10	0.87932	D	0	-16.6136	18.6978	0.91607	0.0:1.0:0.0:0.0	.	477;477	E7ET42;O43525	.;KCNQ3_HUMAN	H	477;357;477;466;356	ENSP00000373648:R477H;ENSP00000429799:R357H;ENSP00000428790:R477H	ENSP00000373648:R477H	R	-	2	0	0	KCNQ3	133222593	133222593	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.524000	0.60552	2.652000	0.90054	0.655000	0.94253	CGC	0.436267		TCGA-FB-A5VM-01A-11D-A32N-08	0.473	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	1	0	1	2	2	2	2	0	0	0	0	63	63	63	63	1	1.920000	-3.221883	1	0.280000	NM_004519		0	60	60	0	527	515	1		1	0		0	0	63	0	0	1.000000	0	0	0	0	1	0	60	527
COMMD5	28991	broad.mit.edu	37	8	146076505	146076505	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:146076505G>A	ENST00000305103.3	-	2	471	c.219C>T	c.(217-219)gtC>gtT	p.V73V	AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000402718.3_Silent_p.V73V|COMMD5_ENST00000450361.2_Silent_p.V73V	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	73						nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GGTTGGCGCTGACCCCAAGAC	0.647																																						ENST00000305103.3	1.000000	0.770000	1.000000	0.920000	0.990000	0.972388	0.990000	1.000000																										0				11						c.(217-219)gtC>gtT		COMM domain containing 5							24.0	22.0	23.0					8																	146076505		2202	4298	6500	SO:0001819	synonymous_variant	28991	0	0					g.chr8:146076505G>A	AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.219C>T	chr8.hg19:g.146076505G>A		0					COMMD5_ENST00000402718.3_Silent_p.V73V|AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000450361.2_Silent_p.V73V	p.V73V	NM_014066.3	NP_054785.2	1	2	3	2.075471	Q9GZQ3	COMD5_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	2	471	-	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		D3DWN7|Q9NVN6|Q9UHX5	Silent	SNP	ENST00000305103.3	1	1	hg19	c.219C>T	CCDS6436.1	1																																																																																								0.290920		TCGA-FB-A5VM-01A-11D-A32N-08	0.647	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	1	0	1	2	2	2	2	0	0	0	0	36	36	36	36	1	1.920000	-20.000000	1	0.280000	NM_014066		0	33	33	0	188	185	1		1	1		0	0	36	0	0	1.000000	9.999999e-01	0	52	0	102	0	33	188
BRWD3	254065	broad.mit.edu	37	X	79932804	79932804	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:79932804G>A	ENST00000373275.4	-	41	4929	c.4713C>T	c.(4711-4713)atC>atT	p.I1571I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1571					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTTTTCTCTTGATTCCTGTCC	0.368																																						ENST00000373275.4	1.000000	0.690000	0.970000	0.800000	0.890000	0.890049	0.890000	0.980000																										0				87						c.(4711-4713)atC>atT		bromodomain and WD repeat domain containing 3							44.0	41.0	42.0					X																	79932804		2203	4300	6503	SO:0001819	synonymous_variant	254065	0	0					g.chrX:79932804G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4713C>T	chrX.hg19:g.79932804G>A							BRWD3_ENST00000473691.1_5'UTR	p.I1571I	NM_153252.4	NP_694984	0	1	1		Q6RI45	BRWD3_HUMAN		41	4929	-			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	1	1	hg19	c.4713C>T	CCDS14447.1	1																																																																																								0.280000		TCGA-FB-A5VM-01A-11D-A32N-08	0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	1	0	1	2	2	2	2	0	0	0	0	28	28	28	28	1	1.920000	-20.000000	1	0.280000	NM_153252		0	34	34	0	87	86	1		1	1		0	0	28	0	0	1.000000	4.386202e-01	0	5	0	0	0	34	87
ATP2B3	492	broad.mit.edu	37	X	152806983	152806983	+	Silent	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:152806983G>T	ENST00000349466.2	+	3	701	c.375G>T	c.(373-375)tcG>tcT	p.S125S	ATP2B3_ENST00000370181.2_Silent_p.S125S|ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000393842.1_Silent_p.S125S|ATP2B3_ENST00000359149.3_Silent_p.S125S|ATP2B3_ENST00000370186.1_Silent_p.S125S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	125					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCCTCTCGTTCTATGCGC	0.622																																						ENST00000349466.2	1.000000	0.770000	0.990000	0.860000	0.930000	0.929529	0.930000	0.990000																										0				50						c.(373-375)tcG>tcT		ATPase, Ca++ transporting, plasma membrane 3							97.0	82.0	87.0					X																	152806983		2203	4300	6503	SO:0001819	synonymous_variant	492	0	0					g.chrX:152806983G>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.375G>T	chrX.hg19:g.152806983G>T							ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000370181.2_Silent_p.S125S|ATP2B3_ENST00000370186.1_Silent_p.S125S|ATP2B3_ENST00000359149.3_Silent_p.S125S|ATP2B3_ENST00000393842.1_Silent_p.S125S	p.S125S			0	1	1		Q16720	AT2B3_HUMAN		3	701	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	1	1	hg19	c.375G>T	CCDS35440.1	1																																																																																								0.280000		TCGA-FB-A5VM-01A-11D-A32N-08	0.622	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	1	0	1	2	2	2	2	0	0	0	0	35	35	35	34	1	1.920000	-20.000000	1	0.280000	NM_021949		0	49	49	0	112	111	1		1			0	0	35	0	0	1.000000	0	0	0	0	0	0	49	112
