#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RYR3	6263	broad.mit.edu	37	15	34077962	34077962	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:34077962G>A	ENST00000389232.4	+	66	9438	c.9368G>A	c.(9367-9369)cGg>cAg	p.R3123Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3123Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3123					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGGGGCCCGGTACACAGAG	0.587																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9367-9369)cGg>cAg		ryanodine receptor 3							112.0	130.0	124.0					15																	34077962		2181	4291	6472	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34077962G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9368G>A	15.37:g.34077962G>A	ENSP00000373884:p.Arg3123Gln					RYR3_ENST00000415757.3_Missense_Mutation_p.R3123Q	p.R3123Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9438	+		all_lung(180;7.18e-09)	3123					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9368G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016696	0.75161	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.67698	-0.28;-0.28	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.83179	0.5198	M	0.82630	2.6	0.58432	D	0.999998	D;D	0.89917	1.0;0.971	D;P	0.74023	0.982;0.59	D	0.84828	0.0800	10	0.56958	D	0.05	.	18.6452	0.91408	0.0:0.0:1.0:0.0	.	3123;3123	Q15413-2;Q15413	.;RYR3_HUMAN	Q	3123	ENSP00000373884:R3123Q;ENSP00000399610:R3123Q	ENSP00000354735:R3123Q	R	+	2	0	RYR3	31865254	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	9.542000	0.98086	2.712000	0.92718	0.655000	0.94253	CGG		0.587	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			29	87	0	0	0	1	0	29	87				
TEX15	56154	broad.mit.edu	37	8	30699682	30699682	+	Silent	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:30699682A>G	ENST00000256246.2	-	1	6926	c.6852T>C	c.(6850-6852)aaT>aaC	p.N2284N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2284					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTATTGTTATTTTCCCCAG	0.333																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(6850-6852)aaT>aaC		testis expressed 15							61.0	62.0	61.0					8																	30699682		2203	4299	6502	SO:0001819	synonymous_variant	56154							g.chr8:30699682A>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6852T>C	8.37:g.30699682A>G							p.N2284N	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	6926	-			2284						Silent	SNP	ENST00000256246.2	37	c.6852T>C	CCDS6080.1																																																																																				0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			7	17	0	0	0	1	0	7	17				
MYO9B	4650	broad.mit.edu	37	19	17256215	17256215	+	Silent	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:17256215A>T	ENST00000594824.1	+	3	996	c.849A>T	c.(847-849)ggA>ggT	p.G283G	MYO9B_ENST00000595618.1_Silent_p.G283G|MYO9B_ENST00000397274.2_Silent_p.G283G			Q13459	MYO9B_HUMAN	myosin IXB	283	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGGCTTTTGGAAATGCCAAGA	0.438																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(847-849)ggA>ggT		myosin IXB							86.0	85.0	85.0					19																	17256215		1890	4117	6007	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17256215A>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.849A>T	19.37:g.17256215A>T						MYO9B_ENST00000397274.2_Silent_p.G283G|MYO9B_ENST00000594824.1_Silent_p.G283G	p.G283G	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			3	1001	+			283			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.849A>T																																																																																					0.438	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			15	56	0	0	0	1	0	15	56				
RFX5	5993	broad.mit.edu	37	1	151315599	151315599	+	Missense_Mutation	SNP	C	C	T	rs374354196		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:151315599C>T	ENST00000290524.4	-	11	1092	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Missense_Mutation_p.R305Q|RFX5_ENST00000368870.2_Missense_Mutation_p.R305Q|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452513.2_Missense_Mutation_p.R265Q	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	305					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCTTCTTCCGCTCTCCACG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16732	0.0		0.0	False		,,,				2504	0.0					ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(913-915)cGg>cAg		regulatory factor X, 5 (influences HLA class II expression)		C	GLN/ARG,GLN/ARG	2,4380		0,2,2189	32.0	37.0	35.0		914,914	5.7	1.0	1		35	1,8519		0,1,4259	no	missense,missense	RFX5	NM_000449.3,NM_001025603.1	43,43	0,3,6448	TT,TC,CC		0.0117,0.0456,0.0233	probably-damaging,probably-damaging	305/617,305/617	151315599	3,12899	2191	4260	6451	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151315599C>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.914G>A	1.37:g.151315599C>T	ENSP00000290524:p.Arg305Gln					RFX5_ENST00000452671.2_Missense_Mutation_p.R305Q|RFX5_ENST00000452513.2_Missense_Mutation_p.R265Q|RFX5_ENST00000368870.2_Missense_Mutation_p.R305Q	p.R305Q	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		11	1092	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		305					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.914G>A	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613619	0.66672	4.56E-4	1.17E-4	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T;T	0.77229	0.2;0.2;-1.08;0.2;0.19;0.21	5.65	5.65	0.86999	.	0.098879	0.43260	D	0.000595	T	0.79446	0.4447	M	0.63428	1.95	0.31432	N	0.672972	D;D	0.76494	0.998;0.999	P;D	0.72625	0.84;0.978	T	0.75494	-0.3298	10	0.31617	T	0.26	-14.5474	10.4688	0.44624	0.0:0.9148:0.0:0.0852	.	265;305	B7Z848;P48382	.;RFX5_HUMAN	Q	305;305;197;305;265;305	ENSP00000290524:R305Q;ENSP00000357864:R305Q;ENSP00000390769:R197Q;ENSP00000389130:R305Q;ENSP00000398388:R265Q;ENSP00000376502:R305Q	ENSP00000290524:R305Q	R	-	2	0	RFX5	149582223	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.572000	0.36461	2.941000	0.99782	0.655000	0.94253	CGG		0.572	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		19	44	0	0	0	1	0	19	44				
ZMAT2	153527	broad.mit.edu	37	5	140081702	140081702	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140081702C>G	ENST00000274712.3	+	3	351	c.224C>G	c.(223-225)tCt>tGt	p.S75C		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	75						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCCTCAATCTGAGATGGGA	0.453																																						ENST00000274712.3																			0				breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8						c.(223-225)tCt>tGt		zinc finger, matrin-type 2							100.0	93.0	96.0					5																	140081702		2203	4300	6503	SO:0001583	missense	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140081702C>G	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.224C>G	5.37:g.140081702C>G	ENSP00000274712:p.Ser75Cys						p.S75C	NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	351	+			75						Missense_Mutation	SNP	ENST00000274712.3	37	c.224C>G	CCDS4239.1	.	.	.	.	.	.	.	.	.	.	c	27.9	4.871788	0.91587	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.87	5.87	0.94306	.	0.047337	0.85682	D	0.000000	T	0.73969	0.3655	M	0.71871	2.18	0.80722	D	1	P	0.48089	0.905	P	0.51453	0.67	T	0.75505	-0.3294	9	0.66056	D	0.02	-7.6852	20.2033	0.98269	0.0:1.0:0.0:0.0	.	75	Q96NC0	ZMAT2_HUMAN	C	75	.	ENSP00000274712:S75C	S	+	2	0	ZMAT2	140061886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.463000	0.80869	2.779000	0.95612	0.655000	0.94253	TCT		0.453	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723		29	61	0	0	0	1	0	29	61				
KLHDC4	54758	broad.mit.edu	37	16	87782281	87782281	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:87782281G>A	ENST00000270583.5	-	5	562	c.504C>T	c.(502-504)gtC>gtT	p.V168V	KLHDC4_ENST00000347925.5_Silent_p.V168V|KLHDC4_ENST00000353170.5_Silent_p.V111V|RP11-278A23.2_ENST00000563036.1_RNA	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	168										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CTTCTTACTTGACTTGTTCCC	0.557																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(502-504)gtC>gtT		kelch domain containing 4							146.0	148.0	147.0					16																	87782281		2198	4300	6498	SO:0001819	synonymous_variant	54758							g.chr16:87782281G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.504C>T	16.37:g.87782281G>A						KLHDC4_ENST00000353170.5_Silent_p.V111V|KLHDC4_ENST00000347925.5_Silent_p.V168V	p.V168V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	5	562	-			168					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	37	c.504C>T	CCDS10963.1																																																																																				0.557	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		36	115	0	0	0	1	0	36	115				
HNRNPR	10236	broad.mit.edu	37	1	23644993	23644993	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:23644993G>C	ENST00000374612.1	-	8	1123	c.1000C>G	c.(1000-1002)Cca>Gca	p.P334A	HNRNPR_ENST00000478691.1_Missense_Mutation_p.P236A|HNRNPR_ENST00000426846.2_Missense_Mutation_p.P174A|HNRNPR_ENST00000302271.6_Missense_Mutation_p.P334A|HNRNPR_ENST00000606561.1_Missense_Mutation_p.P195A|HNRNPR_ENST00000427764.2_Missense_Mutation_p.P296A|HNRNPR_ENST00000374616.3_Missense_Mutation_p.P337A	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	334					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ATGACTTCTGGATCTGGTTCT	0.418																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(706-708)Cca>Gca		heterogeneous nuclear ribonucleoprotein R							115.0	106.0	109.0					1																	23644993		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23644993G>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1000C>G	1.37:g.23644993G>C	ENSP00000363741:p.Pro334Ala					HNRNPR_ENST00000302271.6_Missense_Mutation_p.P334A|HNRNPR_ENST00000427764.2_Missense_Mutation_p.P296A|HNRNPR_ENST00000426846.2_Missense_Mutation_p.P174A|HNRNPR_ENST00000606561.1_Missense_Mutation_p.P195A|HNRNPR_ENST00000374612.1_Missense_Mutation_p.P334A|HNRNPR_ENST00000374616.3_Missense_Mutation_p.P337A	p.P236A	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	7	977	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	334			RRM 1.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.706C>G	CCDS232.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281497	0.59758	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.74737	-0.87;2.01;2.01;2.31;-0.87	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	N	0.16307	0.4	0.80722	D	1	B;P;B;B;B;B	0.43314	0.067;0.803;0.27;0.112;0.167;0.113	B;P;B;B;B;B	0.45138	0.032;0.471;0.254;0.032;0.028;0.07	T	0.67983	-0.5529	10	0.39692	T	0.17	-1.2101	18.7017	0.91623	0.0:0.0:1.0:0.0	.	174;296;195;314;334;337	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	A	337;334;334;296;174	ENSP00000363745:P337A;ENSP00000363741:P334A;ENSP00000304405:P334A;ENSP00000392799:P296A;ENSP00000415042:P174A	ENSP00000304405:P334A	P	-	1	0	HNRNPR	23517580	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.779000	0.95612	0.655000	0.94253	CCA		0.418	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		17	49	0	0	0	1	0	17	49				
ATP13A5	344905	broad.mit.edu	37	3	193023355	193023355	+	Missense_Mutation	SNP	G	G	A	rs150829984		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:193023355G>A	ENST00000342358.4	-	23	2788	c.2671C>T	c.(2671-2673)Ctc>Ttc	p.L891F	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	891						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TACCTGATGAGATGAGGCACA	0.443																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2671-2673)Ctc>Ttc		ATPase type 13A5		G	PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	244.0	224.0	231.0		2671	6.1	1.0	3	dbSNP_134	231	0,8600		0,0,4300	no	missense	ATP13A5	NM_198505.2	22	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	891/1219	193023355	1,13005	2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193023355G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2671C>T	3.37:g.193023355G>A	ENSP00000341942:p.Leu891Phe					ATP13A5_ENST00000495496.1_5'UTR	p.L891F	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	23	2788	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		891					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.2671C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357549	0.82243	2.27E-4	0.0	ENSG00000187527	ENST00000342358	T	0.55052	0.54	6.07	6.07	0.98685	HAD-like domain (2);	0.088710	0.48286	D	0.000187	T	0.77363	0.4119	M	0.87328	2.875	0.51767	D	0.999937	D	0.89917	1.0	D	0.79108	0.992	T	0.79790	-0.1655	10	0.72032	D	0.01	-15.555	18.1531	0.89682	0.0:0.0:1.0:0.0	.	891	Q4VNC0	AT135_HUMAN	F	891	ENSP00000341942:L891F	ENSP00000341942:L891F	L	-	1	0	ATP13A5	194506049	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	9.405000	0.97313	2.885000	0.99019	0.655000	0.94253	CTC		0.443	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		23	62	0	0	0	1	0	23	62				
TMEM63C	57156	broad.mit.edu	37	14	77715711	77715711	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:77715711G>C	ENST00000298351.4	+	21	2092	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	650					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CAAACTGAACGAGCAGATCCA	0.532																																						ENST00000298351.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23						c.(1948-1950)Gag>Cag		transmembrane protein 63C							162.0	165.0	164.0					14																	77715711		2119	4225	6344	SO:0001583	missense	57156					integral to membrane		g.chr14:77715711G>C		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1948G>C	14.37:g.77715711G>C	ENSP00000298351:p.Glu650Gln						p.E650Q	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	21	2092	+			650					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.1948G>C	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710980	0.30322	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.29655	1.56	5.4	4.45	0.53987	Domain of unknown function DUF221 (1);	0.272859	0.43110	D	0.000618	T	0.23806	0.0576	N	0.24115	0.695	0.25671	N	0.985896	B	0.14438	0.01	B	0.23716	0.048	T	0.17837	-1.0356	10	0.46703	T	0.11	-13.9451	14.8335	0.70166	0.0:0.2302:0.7698:0.0	.	650	Q9P1W3	TM63C_HUMAN	Q	650;220	ENSP00000298351:E650Q	ENSP00000298351:E650Q	E	+	1	0	TMEM63C	76785464	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	5.154000	0.64894	2.537000	0.85549	0.561000	0.74099	GAG		0.532	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			21	74	0	0	0	1	0	21	74				
CASP8	841	broad.mit.edu	37	2	202137501	202137501	+	Splice_Site	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:202137501T>C	ENST00000432109.2	+	5	739		c.e5+2		CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000358485.4_Splice_Site	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCAGCAAAGGTAGAAACAACC	0.413										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.e4+2		caspase 8, apoptosis-related cysteine peptidase							109.0	111.0	110.0					2																	202137501		2203	4300	6503	SO:0001630	splice_region_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202137501T>C	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.550+2T>C	2.37:g.202137501T>C		HNSCC(4;0.00038)				CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000432109.2_Splice_Site		NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			4	923	+								O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Splice_Site	SNP	ENST00000432109.2	37		CCDS2342.1	.	.	.	.	.	.	.	.	.	.	T	8.313	0.822459	0.16678	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000424461;ENST00000444430	.	.	.	5.75	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4854	0.33067	0.0:0.0882:0.0:0.9118	.	.	.	.	.	-1	.	.	.	+	.	.	CASP8	201845746	1.000000	0.71417	0.975000	0.42487	0.031000	0.12232	4.677000	0.61634	1.009000	0.39289	0.482000	0.46254	.		0.413	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Intron	29	50	0	0	0	1	0	29	50				
DNAH2	146754	broad.mit.edu	37	17	7707590	7707590	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:7707590C>T	ENST00000572933.1	+	59	10449	c.8989C>T	c.(8989-8991)Cgg>Tgg	p.R2997W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2997W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2997	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGAGAAAAACGGCAGGAGCT	0.567																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(8989-8991)Cgg>Tgg		dynein, axonemal, heavy chain 2							45.0	44.0	44.0					17																	7707590		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7707590C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8989C>T	17.37:g.7707590C>T	ENSP00000458355:p.Arg2997Trp					DNAH2_ENST00000389173.2_Missense_Mutation_p.R2997W	p.R2997W			Q9P225	DYH2_HUMAN			59	10449	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2997			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8989C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000920	0.74818	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.41065	1.01	5.61	2.03	0.26663	.	0.441581	0.20767	N	0.086048	T	0.65903	0.2736	H	0.95950	3.745	0.80722	D	1	D	0.56968	0.978	P	0.51016	0.656	T	0.80158	-0.1499	10	0.66056	D	0.02	.	14.9532	0.71091	0.3772:0.6228:0.0:0.0	.	2997	Q9P225	DYH2_HUMAN	W	2997	ENSP00000373825:R2997W	ENSP00000353818:R2997W	R	+	1	2	DNAH2	7648315	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	1.831000	0.39141	0.665000	0.31066	0.591000	0.81541	CGG		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		10	23	0	0	0	1	0	10	23				
RP11-535M15.2	0	broad.mit.edu	37	9	99489019	99489019	+	RNA	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:99489019G>T	ENST00000602289.1	+	0	8																											TGTCTCAAGTGCATTCGCAAG	0.473																																						ENST00000602289.1																			0																																																			0							g.chr9:99489019G>T																													9.37:g.99489019G>T														0	8	+									RNA	SNP	ENST00000602289.1	37																																																																																						0.473	RP11-535M15.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467352.1			24	19	1	0	7.87624e-14	1	8.34823e-14	24	19				
ANKRD50	57182	broad.mit.edu	37	4	125599995	125599995	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:125599995G>A	ENST00000504087.1	-	3	1615	c.578C>T	c.(577-579)tCt>tTt	p.S193F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	193										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCATCAACAGAATCAACAAG	0.438																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(577-579)tCt>tTt		ankyrin repeat domain 50							169.0	170.0	170.0					4																	125599995		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125599995G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.578C>T	4.37:g.125599995G>A	ENSP00000425658:p.Ser193Phe					ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14F	p.S193F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			3	1615	-			193					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.578C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798711	0.70567	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.71934	1.83;-0.61	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82710	0.5096	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.83223	-0.0067	10	0.87932	D	0	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	193	Q9ULJ7	ANR50_HUMAN	F	193;14	ENSP00000425658:S193F;ENSP00000425355:S14F	ENSP00000425658:S193F	S	-	2	0	ANKRD50	125819445	1.000000	0.71417	0.882000	0.34594	0.152000	0.21847	8.836000	0.92105	2.761000	0.94854	0.585000	0.79938	TCT		0.438	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		27	101	0	0	0	1	0	27	101				
NLRP13	126204	broad.mit.edu	37	19	56423256	56423256	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:56423256G>T	ENST00000342929.3	-	5	1926	c.1927C>A	c.(1927-1929)Cac>Aac	p.H643N	NLRP13_ENST00000588751.1_Missense_Mutation_p.H643N	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	643							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGGACTCGTGTAGGCAGTGA	0.428																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(1927-1929)Cac>Aac		NLR family, pyrin domain containing 13							103.0	97.0	99.0					19																	56423256		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56423256G>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1927C>A	19.37:g.56423256G>T	ENSP00000343891:p.His643Asn					NLRP13_ENST00000342929.3_Missense_Mutation_p.H643N	p.H643N			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1951	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	643					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1927C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	7.982	0.751459	0.15778	.	.	ENSG00000173572	ENST00000342929	D	0.87887	-2.31	2.48	-0.287	0.12858	.	.	.	.	.	T	0.77731	0.4174	L	0.32530	0.975	0.09310	N	1	B	0.33583	0.418	B	0.33042	0.157	T	0.66236	-0.5974	9	0.66056	D	0.02	.	5.158	0.15046	0.5713:0.0:0.4287:0.0	.	643	Q86W25	NAL13_HUMAN	N	643	ENSP00000343891:H643N	ENSP00000343891:H643N	H	-	1	0	NLRP13	61115068	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.031000	0.13710	-0.273000	0.09246	0.543000	0.68304	CAC		0.428	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		19	63	1	0	1.01871e-10	1	1.07573e-10	19	63				
SLC45A1	50651	broad.mit.edu	37	1	8385896	8385896	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:8385896C>T	ENST00000471889.1	+	4	894	c.509C>T	c.(508-510)tCg>tTg	p.S170L	SLC45A1_ENST00000377479.2_Missense_Mutation_p.S204L|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Missense_Mutation_p.S170L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	170					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGCCTCTCGCTCTTGCTG	0.592																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(508-510)tCg>tTg		solute carrier family 45, member 1							79.0	74.0	76.0					1																	8385896		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8385896C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.509C>T	1.37:g.8385896C>T	ENSP00000418096:p.Ser170Leu					SLC45A1_ENST00000289877.8_Missense_Mutation_p.S170L|SLC45A1_ENST00000377479.2_Missense_Mutation_p.S204L	p.S170L			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	894	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	170					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.509C>T	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165020	0.78339	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.92699	-3.09;-3.09;-3.09	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.118187	0.56097	D	0.000034	D	0.88994	0.6589	N	0.11313	0.125	0.80722	D	1	D	0.63046	0.992	P	0.57468	0.821	D	0.85731	0.1331	10	0.08599	T	0.76	-21.0611	18.1236	0.89579	0.0:1.0:0.0:0.0	.	170	Q9Y2W3	S45A1_HUMAN	L	170;204;170	ENSP00000418096:S170L;ENSP00000366699:S204L;ENSP00000289877:S170L	ENSP00000289877:S170L	S	+	2	0	SLC45A1	8308483	1.000000	0.71417	0.954000	0.39281	0.722000	0.41435	7.723000	0.84788	2.518000	0.84900	0.655000	0.94253	TCG		0.592	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			21	30	0	0	0	1	0	21	30				
ATP1A1	476	broad.mit.edu	37	1	116944207	116944207	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:116944207G>C	ENST00000295598.5	+	21	3133	c.2881G>C	c.(2881-2883)Gag>Cag	p.E961Q	ATP1A1_ENST00000369496.4_Missense_Mutation_p.E930Q|ATP1A1_ENST00000537345.1_Missense_Mutation_p.E961Q	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	961					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CCTCTTTGAAGAGACAGCCCT	0.413																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(2881-2883)Gag>Cag		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						277.0	286.0	283.0					1																	116944207		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116944207G>C	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2881G>C	1.37:g.116944207G>C	ENSP00000295598:p.Glu961Gln					ATP1A1_ENST00000369496.4_Missense_Mutation_p.E930Q|ATP1A1_ENST00000295598.5_Missense_Mutation_p.E961Q	p.E961Q	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	21	3244	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	961					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.2881G>C	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376414	0.61735	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	5.62	5.62	0.85841	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.099104	0.64402	D	0.000002	D	0.95551	0.8554	M	0.74389	2.26	0.80722	D	1	B;P	0.34522	0.4;0.455	B;P	0.45506	0.351;0.483	D	0.94406	0.7627	10	0.33141	T	0.24	.	19.2768	0.94034	0.0:0.0:1.0:0.0	.	961;961	F5H3A1;P05023	.;AT1A1_HUMAN	Q	961;130;961;930;128	ENSP00000295598:E961Q;ENSP00000445306:E961Q;ENSP00000358508:E930Q;ENSP00000396236:E128Q	ENSP00000295598:E961Q	E	+	1	0	ATP1A1	116745730	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.869000	0.99810	2.640000	0.89533	0.591000	0.81541	GAG		0.413	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		61	157	0	0	0	1	0	61	157				
KCNH4	23415	broad.mit.edu	37	17	40318343	40318343	+	Silent	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:40318343G>C	ENST00000264661.3	-	10	2144	c.1812C>G	c.(1810-1812)ctC>ctG	p.L604L	KCNH4_ENST00000607371.1_Silent_p.L604L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	604					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTTGTCTCGGAGCACCTCAA	0.607																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1810-1812)ctC>ctG		potassium voltage-gated channel, subfamily H (eag-related), member 4							60.0	54.0	56.0					17																	40318343		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318343G>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1812C>G	17.37:g.40318343G>C						KCNH4_ENST00000607371.1_Silent_p.L604L	p.L604L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2144	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	604						Silent	SNP	ENST00000264661.3	37	c.1812C>G	CCDS11420.1																																																																																				0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		5	7	0	0	0	1	0	5	7				
GATM	2628	broad.mit.edu	37	15	45654339	45654339	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:45654339G>A	ENST00000396659.3	-	9	1579	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	414					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GTGCCTCGGCGCCGGACATCG	0.507																																						ENST00000396659.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(1240-1242)Cgc>Tgc		glycine amidinotransferase (L-arginine:glycine amidinotransferase)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						75.0	65.0	68.0					15																	45654339		2198	4298	6496	SO:0001583	missense	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45654339G>A	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.1240C>T	15.37:g.45654339G>A	ENSP00000379895:p.Arg414Cys						p.R414C	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	9	1579	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	414					B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	c.1240C>T	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857264	0.91433	.	.	ENSG00000171766	ENST00000396659	T	0.70045	-0.45	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.86581	0.5967	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89639	0.3861	10	0.87932	D	0	-10.2461	17.1627	0.86808	0.0:0.0:1.0:0.0	.	414	P50440	GATM_HUMAN	C	414	ENSP00000379895:R414C	ENSP00000379895:R414C	R	-	1	0	GATM	43441631	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.182000	0.94881	2.723000	0.93209	0.655000	0.94253	CGC		0.507	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		12	40	0	0	0	1	0	12	40				
POLR2L	5441	broad.mit.edu	37	11	840380	840380	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:840380C>G	ENST00000322028.4	-	2	232	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	TSPAN4_ENST00000397408.1_5'Flank|TSPAN4_ENST00000397411.2_5'Flank|TSPAN4_ENST00000397397.2_5'Flank|TSPAN4_ENST00000397396.1_5'Flank	NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	66					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCACTTCTCCAGGGGTGCA	0.652																																						ENST00000322028.4																			0				lung(1)	1						c.(196-198)Gag>Cag		polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa							193.0	147.0	163.0					11																	840380		2203	4299	6502	SO:0001583	missense	5441				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding	g.chr11:840380C>G	U37690	CCDS7720.1	11p15	2013-01-21	2002-08-29		ENSG00000177700	ENSG00000177700		"""RNA polymerase subunits"""	9199	protein-coding gene	gene with protein product		601189	"""polymerase (RNA) II (DNA directed) polypeptide L (7.6kD)"""			8786124	Standard	NM_021128		Approved	RPB10beta, RBP10, RPABC5, RPB7.6, hRPB7.6, hsRPB10b	uc001lsc.3	P62875	OTTHUMG00000133316	ENST00000322028.4:c.196G>C	11.37:g.840380C>G	ENSP00000324124:p.Glu66Gln						p.E66Q	NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	232	-		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	66					P52436|Q6FHX3	Missense_Mutation	SNP	ENST00000322028.4	37	c.196G>C	CCDS7720.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169079	0.38315	.	.	ENSG00000177700	ENST00000322028	.	.	.	5.08	4.17	0.49024	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	.	.	.	0.80722	D	1	B	0.24963	0.115	B	0.31337	0.128	T	0.60146	-0.7320	8	0.62326	D	0.03	-0.6422	13.2831	0.60226	0.0:0.9225:0.0:0.0775	.	66	P62875	RPAB5_HUMAN	Q	66	.	ENSP00000324124:E66Q	E	-	1	0	POLR2L	830380	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	5.220000	0.65267	1.378000	0.46305	-0.373000	0.07131	GAG		0.652	POLR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257114.1	NM_021128		76	64	0	0	0	1	0	76	64				
EDRF1	26098	broad.mit.edu	37	10	127422700	127422700	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:127422700G>C	ENST00000356792.4	+	12	1677	c.1445G>C	c.(1444-1446)aGa>aCa	p.R482T	C10orf137_ENST00000337623.3_Missense_Mutation_p.R448T	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAACTATTAGAACATTGCTT	0.308																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(1342-1344)aGa>aCa		chromosome 10 open reading frame 137							102.0	104.0	103.0					10																	127422700		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127422700G>C																												ENST00000356792.4:c.1445G>C	10.37:g.127422700G>C	ENSP00000349244:p.Arg482Thr					C10orf137_ENST00000356792.4_Missense_Mutation_p.R482T	p.R448T	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			11	1448	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	482					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.1343G>C	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723613	0.68959	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.11604	2.76;2.76	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	M	0.74467	2.265	0.80722	D	1	D;D;D	0.67145	0.991;0.996;0.996	D;D;D	0.77557	0.974;0.99;0.944	T	0.02484	-1.1152	10	0.72032	D	0.01	.	20.4209	0.99038	0.0:0.0:1.0:0.0	.	482;448;482	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	T	482;482;448	ENSP00000349244:R482T;ENSP00000336727:R448T	ENSP00000336727:R448T	R	+	2	0	C10orf137	127412690	1.000000	0.71417	0.608000	0.28969	0.203000	0.24098	9.256000	0.95535	2.823000	0.97156	0.591000	0.81541	AGA		0.308	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			5	34	0	0	0	1	0	5	34				
HLA-A	3105	broad.mit.edu	37	6	29910741	29910741	+	Missense_Mutation	SNP	A	A	C	rs281864739|rs199474449		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:29910741A>C	ENST00000396634.1	+	4	622	c.281A>C	c.(280-282)cAg>cCg	p.Q94P	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q94P|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q94P|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q94P			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	94	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTGAAGGCCCAGTCACAGACT	0.687									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(280-282)cAg>cCg		major histocompatibility complex, class I, A							74.0	80.0	78.0					6																	29910741		2199	4293	6492	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910741A>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.281A>C	6.37:g.29910741A>C	ENSP00000379873:p.Gln94Pro	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Missense_Mutation_p.Q94P|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q94P|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q94P	p.Q94P			P30443	1A01_HUMAN			4	622	+			94			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.281A>C	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	3.632	-0.075315	0.07184	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00760	5.73;5.73;5.73;5.73	3.57	-7.15	0.01521	MHC class I, alpha chain, alpha1/alpha2 (6);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	31.095600	0.01235	U	0.008471	T	0.00524	0.0017	M	0.80422	2.495	0.09310	N	1	B;B;B;B;B	0.32283	0.362;0.114;0.219;0.114;0.219	B;B;B;B;B	0.42062	0.319;0.374;0.319;0.235;0.319	T	0.19353	-1.0308	10	0.72032	D	0.01	.	2.1425	0.03778	0.1482:0.313:0.3303:0.2084	.	94;94;94;94;94	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	P	94	ENSP00000379873:Q94P;ENSP00000366002:Q94P;ENSP00000366005:Q94P;ENSP00000365998:Q94P	ENSP00000348012:Q94P	Q	+	2	0	HLA-A	30018720	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.660000	0.00058	-3.471000	0.00157	-2.108000	0.00357	CAG		0.687	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	2	0	0	0	1	0	3	2				
SEMA6B	10501	broad.mit.edu	37	19	4548120	4548120	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:4548120G>A	ENST00000586582.1	-	14	1830	c.1520C>T	c.(1519-1521)tCg>tTg	p.S507L	RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000301293.3_Missense_Mutation_p.S507L|SEMA6B_ENST00000586965.1_Missense_Mutation_p.S507L	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	507	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCCCCCCGAAGCTGCGTC	0.687																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1519-1521)tCg>tTg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							15.0	16.0	16.0					19																	4548120		2195	4286	6481	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4548120G>A	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1520C>T	19.37:g.4548120G>A	ENSP00000467290:p.Ser507Leu					SEMA6B_ENST00000301293.3_Missense_Mutation_p.S507L|SEMA6B_ENST00000586965.1_Missense_Mutation_p.S507L	p.S507L	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1830	-		Hepatocellular(1079;0.137)	507			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1520C>T	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.024028	0.54683	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.21031	2.03	3.58	3.58	0.41010	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.602490	0.17079	N	0.187846	T	0.40791	0.1131	M	0.66939	2.045	0.21184	N	0.999765	D	0.89917	1.0	D	0.64321	0.924	T	0.12760	-1.0535	10	0.56958	D	0.05	.	12.7971	0.57565	0.0:0.0:1.0:0.0	.	507	Q9H3T3	SEM6B_HUMAN	L	507	ENSP00000301293:S507L	ENSP00000301292:S507L	S	-	2	0	SEMA6B	4499120	0.001000	0.12720	0.554000	0.28268	0.310000	0.27922	1.216000	0.32443	1.853000	0.53794	0.485000	0.47835	TCG		0.687	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		6	5	0	0	0	1	0	6	5				
ZNF773	374928	broad.mit.edu	37	19	58018253	58018253	+	Missense_Mutation	SNP	C	C	G	rs139485854	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:58018253C>G	ENST00000282292.4	+	4	930	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.Q263E	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TGACCTCATTCAACACCAGAG	0.418													C|||	12	0.00239617	0.0061	0.0	5008	,	,		21843	0.0		0.0	False		,,,				2504	0.0041					ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(790-792)Caa>Gaa		zinc finger protein 773							101.0	102.0	102.0					19																	58018253		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018253C>G	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.790C>G	19.37:g.58018253C>G	ENSP00000282292:p.Gln264Glu					ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.Q263E	p.Q264E	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	930	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	264					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.790C>G	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.548076	0.00140	.	.	ENSG00000152439	ENST00000282292	T	0.16324	2.35	1.18	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08223	0.0205	L	0.28458	0.855	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41698	-0.9494	9	0.02654	T	1	.	2.6458	0.04984	0.0:0.4682:0.3207:0.2111	.	263;264	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	E	264	ENSP00000282292:Q264E	ENSP00000282292:Q264E	Q	+	1	0	ZNF773	62710065	0.000000	0.05858	0.342000	0.25602	0.890000	0.51754	-4.911000	0.00171	0.950000	0.37743	0.313000	0.20887	CAA		0.418	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		18	66	0	0	0	1	0	18	66				
CLEC4D	338339	broad.mit.edu	37	12	8672930	8672930	+	Missense_Mutation	SNP	C	C	T	rs374210290		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:8672930C>T	ENST00000299665.2	+	5	686	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	165	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					ATTTAACCCACGCAGAGTGTA	0.418																																						ENST00000299665.2																			0				large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(493-495)Cgc>Tgc		C-type lectin domain family 4, member D		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	82.0	83.0	83.0		493	-1.0	0.0	12		83	0,8598		0,0,4299	no	missense	CLEC4D	NM_080387.4	180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	165/216	8672930	1,13003	2203	4299	6502	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8672930C>T	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.493C>T	12.37:g.8672930C>T	ENSP00000299665:p.Arg165Cys						p.R165C	NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN			5	686	+	Lung SC(5;0.184)		165			C-type lectin.		Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.493C>T	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549384	0.27652	2.27E-4	0.0	ENSG00000166527	ENST00000299665	T	0.17691	2.26	4.67	-1.05	0.10036	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.13415	0.0325	N	0.21282	0.65	0.09310	N	1	D	0.57571	0.98	P	0.51229	0.663	T	0.19712	-1.0297	8	.	.	.	.	4.3307	0.11062	0.1518:0.3122:0.4454:0.0907	.	165	Q8WXI8	CLC4D_HUMAN	C	165	ENSP00000299665:R165C	.	R	+	1	0	CLEC4D	8564197	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-0.916000	0.04029	-0.020000	0.14032	0.643000	0.83706	CGC		0.418	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		11	38	0	0	0	1	0	11	38				
RNF32	140545	broad.mit.edu	37	7	156451242	156451242	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:156451242G>A	ENST00000405335.1	+	8	1071	c.662G>A	c.(661-663)aGa>aAa	p.R221K	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.R221K|RNF32_ENST00000311822.8_Missense_Mutation_p.R221K|RNF32_ENST00000392741.2_Missense_Mutation_p.R221K|RNF32_ENST00000317955.5_Missense_Mutation_p.R221K|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000392743.2_Missense_Mutation_p.R221K|RNF32_ENST00000343665.4_Missense_Mutation_p.R197K			Q9H0A6	RNF32_HUMAN	ring finger protein 32	221						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCCAAGTTAAGAAAAAAATTC	0.423																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(661-663)aGa>aAa		ring finger protein 32							78.0	83.0	81.0					7																	156451242		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156451242G>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.662G>A	7.37:g.156451242G>A	ENSP00000385285:p.Arg221Lys					RNF32_ENST00000343665.4_Missense_Mutation_p.R197K|RNF32_ENST00000317955.5_Missense_Mutation_p.R221K|RNF32_ENST00000311822.8_Missense_Mutation_p.R221K|RNF32_ENST00000432459.2_Missense_Mutation_p.R221K|RNF32_ENST00000405335.1_Missense_Mutation_p.R221K|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.R221K	p.R221K			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	6	750	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	221					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.662G>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865077	0.91511	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	T;T;T;T;T;T;T;T	0.53640	0.61;2.07;2.07;2.07;1.67;2.07;0.72;1.62	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.985	D;D;P	0.83275	0.996;0.955;0.77	T	0.73065	-0.4100	10	0.56958	D	0.05	-20.2009	18.2076	0.89859	0.0:0.0:1.0:0.0	.	221;221;221	Q9H0A6-4;G5E940;Q9H0A6	.;.;RNF32_HUMAN	K	221;221;221;221;221;221;221;197	ENSP00000385815:R221K;ENSP00000405588:R221K;ENSP00000315950:R221K;ENSP00000385285:R221K;ENSP00000308894:R221K;ENSP00000376499:R221K;ENSP00000376497:R221K;ENSP00000341185:R197K	ENSP00000308894:R221K	R	+	2	0	RNF32	156144003	1.000000	0.71417	0.123000	0.21794	0.714000	0.41099	6.330000	0.72925	2.369000	0.80426	0.650000	0.86243	AGA		0.423	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		10	24	0	0	0	1	0	10	24				
WNK3	65267	broad.mit.edu	37	X	54275519	54275519	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:54275519G>C	ENST00000375159.2	-	16	3261	c.3262C>G	c.(3262-3264)Caa>Gaa	p.Q1088E	WNK3_ENST00000354646.2_Missense_Mutation_p.Q1088E|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1088E			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1088					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q1088K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTAGTGGGTTGAAGGGTAGTT	0.428																																						ENST00000354646.2																			1	Substitution - Missense(1)	p.Q1088K(1)	large_intestine(1)	autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3262-3264)Caa>Gaa		WNK lysine deficient protein kinase 3							97.0	85.0	89.0					X																	54275519		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54275519G>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3262C>G	X.37:g.54275519G>C	ENSP00000364301:p.Gln1088Glu					WNK3_ENST00000375159.2_Missense_Mutation_p.Q1088E|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1088E	p.Q1088E	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			17	3700	-			1088					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.3262C>G	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	1.118	-0.656104	0.03480	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.48201	0.82;0.82;0.82	5.02	1.03	0.20045	.	1.000500	0.08068	N	0.999430	T	0.28200	0.0696	N	0.14661	0.345	0.20873	N	0.999837	B;B	0.18166	0.018;0.026	B;B	0.15870	0.014;0.006	T	0.22941	-1.0202	10	0.25106	T	0.35	-0.4997	6.7939	0.23715	0.1625:0.2621:0.5754:0.0	.	1088;1088	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	E	1088	ENSP00000364312:Q1088E;ENSP00000346667:Q1088E;ENSP00000364301:Q1088E	ENSP00000346667:Q1088E	Q	-	1	0	WNK3	54292244	1.000000	0.71417	0.000000	0.03702	0.259000	0.26198	3.566000	0.53805	-0.242000	0.09667	0.422000	0.28245	CAA		0.428	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		22	45	0	0	0	1	0	22	45				
GLDC	2731	broad.mit.edu	37	9	6606660	6606660	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:6606660C>T	ENST00000321612.6	-	5	795	c.645G>A	c.(643-645)aaG>aaA	p.K215K		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	215					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	ATTTCCTCCTCTTGTTGTGTC	0.393																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(643-645)aaG>aaA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						174.0	159.0	164.0					9																	6606660		2203	4300	6503	SO:0001819	synonymous_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6606660C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.645G>A	9.37:g.6606660C>T							p.K215K	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	5	795	-		Acute lymphoblastic leukemia(23;0.161)	215					Q2M2F8	Silent	SNP	ENST00000321612.6	37	c.645G>A	CCDS34987.1																																																																																				0.393	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		17	70	0	0	0	1	0	17	70				
C1QTNF8	390664	broad.mit.edu	37	16	1144797	1144797	+	Silent	SNP	C	C	T	rs200565092		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:1144797C>T	ENST00000328449.5	-	3	399	c.126G>A	c.(124-126)gtG>gtA	p.V42V		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	42						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CCCTGTCACTCACCCGGGCAT	0.692													c|||	1	0.000199681	0.0	0.0	5008	,	,		13046	0.0		0.001	False		,,,				2504	0.0					ENST00000328449.5																			0				lung(2)|prostate(1)|skin(1)	4						c.(124-126)gtG>gtA		C1q and tumor necrosis factor related protein 8							37.0	39.0	38.0					16																	1144797		2189	4290	6479	SO:0001819	synonymous_variant	390664					collagen		g.chr16:1144797C>T	AY358832	CCDS32358.1	16p13.3	2014-08-12			ENSG00000184471	ENSG00000184471			31374	protein-coding gene	gene with protein product		614147				12975309	Standard	NM_207419		Approved	UNQ5829, CTRP8	uc010uuw.1	P60827	OTTHUMG00000167756	ENST00000328449.5:c.126G>A	16.37:g.1144797C>T							p.V42V	NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN			3	399	-		Hepatocellular(780;0.00369)	42					B7U178	Silent	SNP	ENST00000328449.5	37	c.126G>A	CCDS32358.1																																																																																				0.692	C1QTNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396120.1	XM_372606		8	21	0	0	0	1	0	8	21				
FANCA	2175	broad.mit.edu	37	16	89837010	89837010	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:89837010C>T	ENST00000389301.3	-	24	2214	c.2184G>A	c.(2182-2184)caG>caA	p.Q728Q	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Silent_p.Q728Q	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	728					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCATCAGGTTCTGACAGAAAG	0.652			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(2182-2184)caG>caA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							60.0	45.0	50.0					16																	89837010		2198	4298	6496	SO:0001819	synonymous_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89837010C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2184G>A	16.37:g.89837010C>T						FANCA_ENST00000568369.1_Silent_p.Q728Q|FANCA_ENST00000567284.2_5'UTR	p.Q728Q	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	24	2214	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	728					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.2184G>A	CCDS32515.1																																																																																				0.652	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			8	17	0	0	0	1	0	8	17				
CREB5	9586	broad.mit.edu	37	7	28857752	28857752	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:28857752A>G	ENST00000357727.2	+	10	1709	c.1319A>G	c.(1318-1320)gAc>gGc	p.D440G	CREB5_ENST00000396300.2_Missense_Mutation_p.D433G|CREB5_ENST00000396299.2_Missense_Mutation_p.D407G|CREB5_ENST00000396298.2_Missense_Mutation_p.D301G|CREB5_ENST00000409603.1_Missense_Mutation_p.D407G	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	440					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACACATAAAGACTGCCCAATA	0.358																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(1318-1320)gAc>gGc		cAMP responsive element binding protein 5							124.0	121.0	122.0					7																	28857752		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28857752A>G	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1319A>G	7.37:g.28857752A>G	ENSP00000350359:p.Asp440Gly					CREB5_ENST00000396299.2_Missense_Mutation_p.D407G|CREB5_ENST00000396300.2_Missense_Mutation_p.D433G|CREB5_ENST00000409603.1_Missense_Mutation_p.D407G|CREB5_ENST00000396298.2_Missense_Mutation_p.D301G	p.D440G	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN			10	1709	+			440					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.1319A>G	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.841690	0.91197	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298;ENST00000498316	T;T;T;T;T	0.68765	-0.32;-0.33;-0.32;-0.32;-0.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.79873	0.4521	L	0.60455	1.87	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.77004	0.989;0.954	T	0.81265	-0.1011	10	0.87932	D	0	-23.0905	16.8061	0.85666	1.0:0.0:0.0:0.0	.	301;440	B4DU13;Q02930	.;CREB5_HUMAN	G	407;440;433;407;301;22	ENSP00000379593:D407G;ENSP00000350359:D440G;ENSP00000379594:D433G;ENSP00000387197:D407G;ENSP00000379592:D301G	ENSP00000350359:D440G	D	+	2	0	CREB5	28824277	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.169000	0.94788	2.367000	0.80283	0.528000	0.53228	GAC		0.358	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		16	48	0	0	0	1	0	16	48				
FLNC	2318	broad.mit.edu	37	7	128478705	128478705	+	Missense_Mutation	SNP	G	G	A	rs371410741		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:128478705G>A	ENST00000325888.8	+	8	1520	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	FLNC_ENST00000346177.6_Missense_Mutation_p.R420Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	420					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCACAGGGCCGGCGGGACACA	0.647																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1258-1260)cGg>cAg		filamin C, gamma		G	GLN/ARG,GLN/ARG	2,4288		0,2,2143	73.0	87.0	82.0		1259,1259	5.4	1.0	7		82	1,8457		0,1,4228	no	missense,missense	FLNC	NM_001127487.1,NM_001458.4	43,43	0,3,6371	AA,AG,GG		0.0118,0.0466,0.0235	benign,benign	420/2693,420/2726	128478705	3,12745	2145	4229	6374	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478705G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1259G>A	7.37:g.128478705G>A	ENSP00000327145:p.Arg420Gln					FLNC_ENST00000346177.6_Missense_Mutation_p.R420Q	p.R420Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			8	1520	+			420					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1259G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098175	0.37048	4.66E-4	1.18E-4	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84873	-1.91;-1.91	5.43	5.43	0.79202	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.217403	0.38663	N	0.001605	T	0.74861	0.3772	L	0.35723	1.085	0.30155	N	0.802676	P;P	0.42296	0.775;0.652	B;B	0.36666	0.135;0.23	T	0.70988	-0.4722	10	0.13853	T	0.58	.	11.3055	0.49332	0.0839:0.0:0.9161:0.0	.	420;420	Q14315-2;Q14315	.;FLNC_HUMAN	Q	420	ENSP00000327145:R420Q;ENSP00000344002:R420Q	ENSP00000327145:R420Q	R	+	2	0	FLNC	128265941	0.987000	0.35691	0.988000	0.46212	0.993000	0.82548	3.467000	0.53078	2.532000	0.85374	0.561000	0.74099	CGG		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			50	114	0	0	0	1	0	50	114				
TLR8	51311	broad.mit.edu	37	X	12939041	12939041	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:12939041G>T	ENST00000218032.6	+	2	1969	c.1882G>T	c.(1882-1884)Gac>Tac	p.D628Y	TLR8_ENST00000311912.5_Missense_Mutation_p.D646Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	628					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GAATGATGATGACAACAGGTA	0.378																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1882-1884)Gac>Tac		toll-like receptor 8							62.0	60.0	61.0					X																	12939041		2203	4299	6502	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939041G>T	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1882G>T	X.37:g.12939041G>T	ENSP00000218032:p.Asp628Tyr					TLR8_ENST00000311912.5_Missense_Mutation_p.D646Y	p.D628Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	1969	+			628					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.1882G>T	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	9.047	0.991115	0.18966	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.34667	1.35;1.52	5.82	5.82	0.92795	.	0.167634	0.28031	N	0.016876	T	0.59348	0.2187	M	0.81341	2.54	0.33089	D	0.537734	D;D	0.89917	1.0;1.0	D;D	0.66351	0.943;0.943	T	0.73528	-0.3954	10	0.87932	D	0	.	11.872	0.52525	0.1328:0.0:0.8672:0.0	.	628;646	Q9NR97;D1CS70	TLR8_HUMAN;.	Y	628;646	ENSP00000218032:D628Y;ENSP00000312082:D646Y	ENSP00000218032:D628Y	D	+	1	0	TLR8	12848962	0.999000	0.42202	0.016000	0.15963	0.006000	0.05464	2.372000	0.44257	2.467000	0.83353	0.600000	0.82982	GAC		0.378	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		18	47	1	0	8.28177e-16	1	8.84431e-16	18	47				
DISP2	85455	broad.mit.edu	37	15	40657052	40657052	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:40657052G>C	ENST00000267889.3	+	5	704	c.617G>C	c.(616-618)cGg>cCg	p.R206P		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	206					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TTTGAGCCACGGGACACAGAC	0.572																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(616-618)cGg>cCg		dispatched homolog 2 (Drosophila)							58.0	59.0	59.0					15																	40657052		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40657052G>C	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.617G>C	15.37:g.40657052G>C	ENSP00000267889:p.Arg206Pro						p.R206P	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	5	704	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	206					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.617G>C	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587361	0.86851	.	.	ENSG00000140323	ENST00000267889	T	0.29397	1.57	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66720	-0.5852	10	0.87932	D	0	-24.461	17.1302	0.86724	0.0:0.0:1.0:0.0	.	206	A7MBM2	DISP2_HUMAN	P	206	ENSP00000267889:R206P	ENSP00000267889:R206P	R	+	2	0	DISP2	38444344	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.121000	0.77160	2.273000	0.75805	0.563000	0.77884	CGG		0.572	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		11	41	0	0	0	1	0	11	41				
GREB1	9687	broad.mit.edu	37	2	11780570	11780570	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:11780570G>A	ENST00000381486.2	+	33	6140	c.5840G>A	c.(5839-5841)cGa>cAa	p.R1947Q	GREB1_ENST00000396123.1_Missense_Mutation_p.R945Q|GREB1_ENST00000234142.5_Missense_Mutation_p.R1947Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1947						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGACGGGACGACACATCTGA	0.597																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5839-5841)cGa>cAa		growth regulation by estrogen in breast cancer 1							78.0	83.0	81.0					2																	11780570		1959	4134	6093	SO:0001583	missense	9687					integral to membrane		g.chr2:11780570G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5840G>A	2.37:g.11780570G>A	ENSP00000370896:p.Arg1947Gln					GREB1_ENST00000396123.1_Missense_Mutation_p.R945Q|GREB1_ENST00000234142.5_Missense_Mutation_p.R1947Q	p.R1947Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	33	6140	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1947					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.5840G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653459	0.88056	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.26518	3.06;3.06;1.73	5.04	5.04	0.67666	.	0.066013	0.64402	D	0.000011	T	0.41789	0.1174	M	0.69823	2.125	0.46416	D	0.999039	D	0.54772	0.968	P	0.50896	0.653	T	0.36335	-0.9752	10	0.45353	T	0.12	-17.7631	18.3628	0.90380	0.0:0.0:1.0:0.0	.	1947	Q4ZG55	GREB1_HUMAN	Q	1947;1947;945	ENSP00000370896:R1947Q;ENSP00000234142:R1947Q;ENSP00000379429:R945Q	ENSP00000234142:R1947Q	R	+	2	0	GREB1	11698021	0.825000	0.29262	0.857000	0.33713	0.986000	0.74619	4.181000	0.58303	2.316000	0.78162	0.563000	0.77884	CGA		0.597	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		22	70	0	0	0	1	0	22	70				
SRP68	6730	broad.mit.edu	37	17	74035918	74035918	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:74035918G>A	ENST00000307877.2	-	16	1914	c.1753C>T	c.(1753-1755)Ccc>Tcc	p.P585S	SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_Missense_Mutation_p.P246S|SRP68_ENST00000355113.5_Missense_Mutation_p.P484S|SRP68_ENST00000539137.1_Missense_Mutation_p.P547S	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	585					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GGCTTGCAGGGAATGGGCTGG	0.547																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(1753-1755)Ccc>Tcc		signal recognition particle 68kDa							108.0	83.0	91.0					17																	74035918		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74035918G>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1753C>T	17.37:g.74035918G>A	ENSP00000312066:p.Pro585Ser					SRP68_ENST00000355113.5_Missense_Mutation_p.P484S|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.P547S|SRP68_ENST00000602720.1_Missense_Mutation_p.P246S	p.P585S	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			16	1914	-			585					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.1753C>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075940	0.94000	.	.	ENSG00000167881	ENST00000539137;ENST00000542536;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.951	D	0.85455	0.1163	9	0.59425	D	0.04	-20.4997	20.1577	0.98120	0.0:0.0:1.0:0.0	.	547;585	G3V1U4;Q9UHB9	.;SRP68_HUMAN	S	547;246;585;554;484	.	ENSP00000307756:P554S	P	-	1	0	SRP68	71547513	1.000000	0.71417	0.966000	0.40874	0.963000	0.63663	9.415000	0.97375	2.767000	0.95098	0.655000	0.94253	CCC		0.547	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		20	33	0	0	0	1	0	20	33				
ZHX3	23051	broad.mit.edu	37	20	39830935	39830935	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:39830935C>T	ENST00000309060.3	-	4	3037	c.2622G>A	c.(2620-2622)atG>atA	p.M874I	ZHX3_ENST00000544979.2_Missense_Mutation_p.M874I|ZHX3_ENST00000559234.1_Missense_Mutation_p.M874I|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.M874I|ZHX3_ENST00000540170.1_Missense_Mutation_p.M874I|ZHX3_ENST00000432768.2_Missense_Mutation_p.M874I			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	874					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GCTGGGAGCTCATCTGGGTCT	0.567																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2620-2622)atG>atA		zinc fingers and homeoboxes 3							172.0	161.0	165.0					20																	39830935		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39830935C>T	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2622G>A	20.37:g.39830935C>T	ENSP00000312222:p.Met874Ile					ZHX3_ENST00000432768.2_Missense_Mutation_p.M874I|ZHX3_ENST00000540170.1_Missense_Mutation_p.M874I|ZHX3_ENST00000560361.1_Missense_Mutation_p.M874I|ZHX3_ENST00000559234.1_Missense_Mutation_p.M874I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.M874I	p.M874I			Q9H4I2	ZHX3_HUMAN			4	3037	-		Myeloproliferative disorder(115;0.00425)	874					E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.2622G>A	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.82|15.82	2.946665|2.946665	0.53186|0.53186	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	.|T;T;T	.|0.12361	.|2.88;2.88;2.69	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Homeodomain-related (1);Homeodomain-like (1);	.|0.127615	.|0.52532	.|D	.|0.000066	T|T	0.24470|0.24470	0.0593|0.0593	M|M	0.76328|0.76328	2.33|2.33	0.47862|0.47862	D|D	0.999537|0.999537	.|P;B;B	.|0.41345	.|0.746;0.297;0.235	.|B;B;B	.|0.41988	.|0.372;0.183;0.143	T|T	0.00553|0.00553	-1.1674|-1.1674	5|10	.|0.72032	.|D	.|0.01	-25.0235|-25.0235	17.262|17.262	0.87072|0.87072	0.0:0.8668:0.1332:0.0|0.0:0.8668:0.1332:0.0	.|.	.|874;874;874	.|A8K8Q0;Q9H4I2;F5H820	.|.;ZHX3_HUMAN;.	K|I	583|874;874;874;874;652	.|ENSP00000362360:M874I;ENSP00000442290:M874I;ENSP00000443783:M874I	.|ENSP00000312222:M874I	E|M	-|-	1|3	0|0	ZHX3|ZHX3	39264349|39264349	0.834000|0.834000	0.29399|0.29399	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.462000|1.462000	0.35266|0.35266	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.567	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		59	158	0	0	0	1	0	59	158				
NUP214	8021	broad.mit.edu	37	9	134016001	134016001	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:134016001C>T	ENST00000359428.5	+	11	1342	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.P400S|NUP214_ENST00000411637.2_Missense_Mutation_p.P400S|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	400	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGTGCTTTGTCCATTTTATAT	0.383			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1198-1200)Cca>Tca		nucleoporin 214kDa							124.0	125.0	124.0					9																	134016001		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134016001C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1198C>T	9.37:g.134016001C>T	ENSP00000352400:p.Pro400Ser					RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.P400S|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.P400S	p.P400S			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	11	1342	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	400					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.1198C>T	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.664315|4.664315	0.88251|0.88251	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375|ENST00000530863	D;D;D|.	0.84298|.	-1.83;-1.83;-1.83|.	5.76|5.76	5.76|5.76	0.90799|0.90799	WD40/YVTN repeat-like-containing domain (1);|.	0.000000|.	0.41097|.	D|.	0.000954|.	T|T	0.73110|0.73110	0.3545|0.3545	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.64144|.	0.922;0.922|.	T|T	0.69323|0.69323	-0.5175|-0.5175	10|5	0.14656|.	T|.	0.56|.	-15.7489|-15.7489	18.9619|18.9619	0.92680|0.92680	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	400;400|.	P35658-4;P35658|.	.;NU214_HUMAN|.	S|F	400|71	ENSP00000352400:P400S;ENSP00000396576:P400S;ENSP00000405014:P400S|.	ENSP00000352400:P400S|.	P|S	+|+	1|2	0|0	NUP214|NUP214	133005822|133005822	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.855000|4.855000	0.62925|0.62925	2.732000|2.732000	0.93576|0.93576	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.383	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		32	37	0	0	0	1	0	32	37				
CADM1	23705	broad.mit.edu	37	11	115088674	115088674	+	Silent	SNP	T	T	C	rs530669537		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:115088674T>C	ENST00000452722.3	-	6	779	c.759A>G	c.(757-759)ctA>ctG	p.L253L	CADM1_ENST00000536727.1_Silent_p.L253L|CADM1_ENST00000542447.2_Silent_p.L253L|CADM1_ENST00000537058.1_Silent_p.L253L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.L253L	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TTAAGCCTTGTAGAGGATAAG	0.458													T|||	1	0.000199681	0.0	0.0	5008	,	,		20341	0.0		0.0	False		,,,				2504	0.001					ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(757-759)ctA>ctG		cell adhesion molecule 1							145.0	123.0	131.0					11																	115088674		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115088674T>C	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.759A>G	11.37:g.115088674T>C						CADM1_ENST00000536727.1_Silent_p.L253L|CADM1_ENST00000537058.1_Silent_p.L253L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Silent_p.L253L|CADM1_ENST00000331581.6_Silent_p.L253L	p.L253L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	6	887	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	253			Ig-like C2-type 2.			Silent	SNP	ENST00000452722.3	37	c.759A>G	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	T	7.366	0.625852	0.14257	.	.	ENSG00000182985	ENST00000545380	.	.	.	5.84	-4.16	0.03869	.	.	.	.	.	T	0.40595	0.1123	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40346	-0.9568	4	.	.	.	.	4.0103	0.09619	0.1102:0.4346:0.2253:0.2299	.	.	.	.	A	252	.	.	T	-	1	0	CADM1	114593884	0.968000	0.33430	0.991000	0.47740	0.980000	0.70556	0.062000	0.14389	-0.348000	0.08286	-0.274000	0.10170	ACA		0.458	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		14	37	0	0	0	1	0	14	37				
HIST1H1E	3008	broad.mit.edu	37	6	26156626	26156626	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:26156626A>T	ENST00000304218.3	+	1	68	c.8A>T	c.(7-9)gAg>gTg	p.E3V	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	3					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AACATGTCCGAGACTGCGCCT	0.662																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(7-9)gAg>gTg		histone cluster 1, H1e							43.0	53.0	50.0					6																	26156626		2152	4254	6406	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156626A>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.8A>T	6.37:g.26156626A>T	ENSP00000307705:p.Glu3Val						p.E3V	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	68	+			3					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.8A>T	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	15.82	2.947193	0.53186	.	.	ENSG00000168298	ENST00000304218	T	0.06294	3.32	5.63	4.47	0.54385	.	0.111529	0.64402	D	0.000012	T	0.01695	0.0054	N	0.08118	0	0.58432	D	0.999998	P	0.34780	0.468	B	0.36378	0.223	T	0.52268	-0.8598	10	0.87932	D	0	-23.895	11.045	0.47852	0.927:0.0:0.073:0.0	.	3	P10412	H14_HUMAN	V	3	ENSP00000307705:E3V	ENSP00000307705:E3V	E	+	2	0	HIST1H1E	26264605	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	6.977000	0.76141	1.071000	0.40834	-0.256000	0.11100	GAG		0.662	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		52	40	0	0	0	1	0	52	40				
CENPF	1063	broad.mit.edu	37	1	214819007	214819007	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:214819007C>T	ENST00000366955.3	+	13	6262	c.6094C>T	c.(6094-6096)Cat>Tat	p.H2032Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2128					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGACAAAACTCATCTCCAGGA	0.438																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(6094-6096)Cat>Tat		centromere protein F, 350/400kDa							70.0	71.0	71.0					1																	214819007		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214819007C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6094C>T	1.37:g.214819007C>T	ENSP00000355922:p.His2032Tyr						p.H2032Y	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6262	+			2128					Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.6094C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	2.766	-0.256662	0.05829	.	.	ENSG00000117724	ENST00000366955	T	0.41758	0.99	5.2	-1.61	0.08399	.	0.707639	0.11707	N	0.537338	T	0.30479	0.0766	L	0.48362	1.52	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.23833	-1.0177	10	0.36615	T	0.2	.	6.7188	0.23318	0.0975:0.3314:0.4608:0.1103	.	2128	P49454	CENPF_HUMAN	Y	2032	ENSP00000355922:H2032Y	ENSP00000355922:H2032Y	H	+	1	0	CENPF	212885630	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-2.920000	0.00694	-0.062000	0.13088	0.603000	0.83216	CAT		0.438	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		6	87	0	0	0	1	0	6	87				
EIF4ENIF1	56478	broad.mit.edu	37	22	31859741	31859741	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:31859741G>A	ENST00000397525.1	-	5	734	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R171C|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R171C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	171	Arg-rich.					cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCGCTAAGACGGTGATCCTTC	0.468																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(511-513)Cgt>Tgt		eukaryotic translation initiation factor 4E nuclear import factor 1							87.0	81.0	83.0					22																	31859741		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31859741G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.511C>T	22.37:g.31859741G>A	ENSP00000380659:p.Arg171Cys					RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R171C|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R171C|RP11-247I13.11_ENST00000483736.1_RNA	p.R171C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			5	734	-			171			Arg-rich.		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.511C>T	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772865	0.90108	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097	.	.	.	5.56	5.56	0.83823	.	0.053473	0.85682	D	0.000000	T	0.75332	0.3835	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76572	-0.2910	9	0.87932	D	0	-12.3166	15.3546	0.74418	0.0:0.0:0.8602:0.1398	.	171	Q9NRA8	4ET_HUMAN	C	171	.	ENSP00000328103:R171C	R	-	1	0	EIF4ENIF1	30189741	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.045000	0.71020	2.792000	0.96026	0.557000	0.71058	CGT		0.468	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		26	55	0	0	0	1	0	26	55				
EPB42	2038	broad.mit.edu	37	15	43508638	43508638	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:43508638C>G	ENST00000441366.2	-	2	249	c.24G>C	c.(22-24)aaG>aaC	p.K8N	EPB42_ENST00000540029.1_Missense_Mutation_p.K8N|EPB42_ENST00000300215.3_Missense_Mutation_p.K38N	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	8					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGTCACAGCTCTTGATACCCA	0.527																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(112-114)aaG>aaC		erythrocyte membrane protein band 4.2							116.0	108.0	110.0					15																	43508638		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43508638C>G	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.24G>C	15.37:g.43508638C>G	ENSP00000396616:p.Lys8Asn					EPB42_ENST00000441366.2_Missense_Mutation_p.K8N|EPB42_ENST00000540029.1_Missense_Mutation_p.K8N	p.K38N			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	2	571	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	8			Band 3 binding (By similarity).		Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.114G>C	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576535	0.65878	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.85258	-1.96;-1.96;-1.96	5.14	5.14	0.70334	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.843870	0.11078	N	0.602195	D	0.90373	0.6987	M	0.69823	2.125	0.39463	D	0.967605	P;D;P	0.54964	0.94;0.969;0.954	P;P;P	0.60068	0.868;0.742;0.762	D	0.86682	0.1917	10	0.30854	T	0.27	-9.1449	13.9696	0.64230	0.0:1.0:0.0:0.0	.	8;38;8	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	N	38;8;8;8	ENSP00000300215:K38N;ENSP00000444699:K8N;ENSP00000396616:K8N	ENSP00000300215:K38N	K	-	3	2	EPB42	41295930	0.617000	0.27043	1.000000	0.80357	0.971000	0.66376	0.264000	0.18497	2.665000	0.90641	0.655000	0.94253	AAG		0.527	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		12	37	0	0	0	1	0	12	37				
COL5A1	1289	broad.mit.edu	37	9	137622311	137622311	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:137622311A>G	ENST00000371817.3	+	7	1568	c.1154A>G	c.(1153-1155)aAc>aGc	p.N385S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	385	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACACCTCCAACTCCTCCAAT	0.602																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1153-1155)aAc>aGc		collagen, type V, alpha 1							56.0	56.0	56.0					9																	137622311		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137622311A>G	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1154A>G	9.37:g.137622311A>G	ENSP00000360882:p.Asn385Ser						p.N385S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	7	1568	+		Myeloproliferative disorder(178;0.0341)	385			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1154A>G	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	A	0.431	-0.903367	0.02453	.	.	ENSG00000130635	ENST00000371817	D	0.89343	-2.5	4.52	4.52	0.55395	.	0.786522	0.11450	U	0.562885	T	0.79299	0.4422	N	0.22421	0.69	0.29045	N	0.884845	B	0.14012	0.009	B	0.09377	0.004	T	0.66097	-0.6008	10	0.11794	T	0.64	.	8.3168	0.32104	0.9089:0.0:0.0911:0.0	.	385	P20908	CO5A1_HUMAN	S	385	ENSP00000360882:N385S	ENSP00000360882:N385S	N	+	2	0	COL5A1	136762132	0.989000	0.36119	0.082000	0.20525	0.011000	0.07611	3.029000	0.49712	1.674000	0.50907	0.460000	0.39030	AAC		0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		38	29	0	0	0	1	0	38	29				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	29	0	0	0	1	0	4	29				
GBP5	115362	broad.mit.edu	37	1	89728465	89728465	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:89728465C>T	ENST00000370459.3	-	9	1493	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	GBP5_ENST00000471171.1_5'Flank|GBP5_ENST00000343435.5_Missense_Mutation_p.E456K|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	456						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AGAACTTCTTCAGCCTAGCAA	0.418																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1366-1368)Gaa>Aaa		guanylate binding protein 5							73.0	73.0	73.0					1																	89728465		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89728465C>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1366G>A	1.37:g.89728465C>T	ENSP00000359488:p.Glu456Lys					GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.E456K	p.E456K	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	10	1902	-			456					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1366G>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.537967	0.27475	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.56941	0.43;0.43;0.43	4.86	1.95	0.26073	Guanylate-binding protein, C-terminal (3);	0.189238	0.44688	N	0.000439	T	0.24967	0.0606	M	0.62016	1.91	0.27326	N	0.956895	P	0.37176	0.586	B	0.39258	0.295	T	0.08743	-1.0707	10	0.21014	T	0.42	-23.0525	5.0439	0.14473	0.0:0.4834:0.3352:0.1814	.	456	Q96PP8	GBP5_HUMAN	K	456	ENSP00000340396:E456K;ENSP00000359488:E456K;ENSP00000403010:E456K	ENSP00000340396:E456K	E	-	1	0	GBP5	89501053	0.020000	0.18652	0.962000	0.40283	0.154000	0.21943	0.500000	0.22562	0.779000	0.33543	-0.189000	0.12847	GAA		0.418	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		14	27	0	0	0	1	0	14	27				
HGSNAT	138050	broad.mit.edu	37	8	43054709	43054709	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:43054709C>T	ENST00000458501.2	+	18	1989	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	HGSNAT_ENST00000297798.7_Silent_p.I367I|HGSNAT_ENST00000521576.1_Silent_p.I352I|HGSNAT_ENST00000379644.4_Silent_p.I635I			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	663					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTTGGAAAATCTGATGGCTCC	0.488																																						ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(1987-1989)atC>atT		heparan-alpha-glucosaminide N-acetyltransferase							32.0	35.0	34.0					8																	43054709		2142	4285	6427	SO:0001819	synonymous_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43054709C>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1989C>T	8.37:g.43054709C>T						HGSNAT_ENST00000297798.7_Silent_p.I367I|HGSNAT_ENST00000379644.4_Silent_p.I635I|HGSNAT_ENST00000521576.1_Silent_p.I352I	p.I663I			Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		18	1989	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	663					B4E2V0	Silent	SNP	ENST00000458501.2	37	c.1989C>T																																																																																					0.488	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		3	9	0	0	0	1	0	3	9				
IL5RA	3568	broad.mit.edu	37	3	3137058	3137058	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:3137058T>A	ENST00000446632.2	-	8	1354	c.780A>T	c.(778-780)aaA>aaT	p.K260N	IL5RA_ENST00000383846.1_Missense_Mutation_p.K260N|IL5RA_ENST00000256452.3_Missense_Mutation_p.K260N|IL5RA_ENST00000311981.8_Missense_Mutation_p.K260N|IL5RA_ENST00000438560.1_Missense_Mutation_p.K260N|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000430514.2_Missense_Mutation_p.K260N|IL5RA_ENST00000456302.1_Missense_Mutation_p.K260N	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	260	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CAGACACTGGTTTCTCCCATT	0.358																																					GBM(169;430 2801 24955 28528)	ENST00000446632.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(778-780)aaA>aaT		interleukin 5 receptor, alpha							97.0	95.0	95.0					3																	3137058		2203	4300	6503	SO:0001583	missense	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3137058T>A	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.780A>T	3.37:g.3137058T>A	ENSP00000412209:p.Lys260Asn					IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000456302.1_Missense_Mutation_p.K260N|IL5RA_ENST00000430514.2_Missense_Mutation_p.K260N|IL5RA_ENST00000256452.3_Missense_Mutation_p.K260N|IL5RA_ENST00000383846.1_Missense_Mutation_p.K260N|IL5RA_ENST00000311981.8_Missense_Mutation_p.K260N|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.K260N	p.K260N	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	8	1354	-			260					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.780A>T	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.651900	0.67472	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302	D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.0	-0.112	0.13572	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.88422	0.6432	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.997	D	0.83939	0.0310	10	0.30078	T	0.28	-33.2311	8.8913	0.35434	0.0:0.4428:0.0:0.5572	.	260;260;260;260	B4E2G0;Q01344-3;Q01344-2;Q01344	.;.;.;IL5RA_HUMAN	N	260	ENSP00000412209:K260N;ENSP00000390753:K260N;ENSP00000256452:K260N;ENSP00000373358:K260N;ENSP00000309196:K260N;ENSP00000400400:K260N;ENSP00000392059:K260N	ENSP00000256452:K260N	K	-	3	2	IL5RA	3112058	0.995000	0.38212	0.977000	0.42913	0.997000	0.91878	0.019000	0.13444	-0.004000	0.14419	0.533000	0.62120	AAA		0.358	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			8	25	0	0	0	1	0	8	25				
MYO5B	4645	broad.mit.edu	37	18	47369730	47369730	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr18:47369730G>A	ENST00000285039.7	-	34	4791	c.4492C>T	c.(4492-4494)Ccc>Tcc	p.P1498S	MYO5B_ENST00000592688.1_Missense_Mutation_p.P68S|MYO5B_ENST00000324581.6_Missense_Mutation_p.P613S|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1498					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGGAGACAGGGCACTGTGCCC	0.567																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(4492-4494)Ccc>Tcc		myosin VB							79.0	80.0	80.0					18																	47369730		2072	4208	6280	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47369730G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4492C>T	18.37:g.47369730G>A	ENSP00000285039:p.Pro1498Ser					SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.P613S|MYO5B_ENST00000592688.1_Missense_Mutation_p.P68S	p.P1498S	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	34	4791	-			1498					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.4492C>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033568	0.93575	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.33654	1.4;1.4	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.65842	0.2730	M	0.84773	2.715	0.80722	D	1	P;D	0.89917	0.864;1.0	P;D	0.87578	0.53;0.998	T	0.71286	-0.4638	10	0.72032	D	0.01	.	18.3406	0.90304	0.0:0.0:1.0:0.0	.	1498;613	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	S	1498;613	ENSP00000285039:P1498S;ENSP00000315531:P613S	ENSP00000285039:P1498S	P	-	1	0	MYO5B	45623728	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.819000	0.86621	2.724000	0.93272	0.561000	0.74099	CCC		0.567	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			19	58	0	0	0	1	0	19	58				
DCTN1	1639	broad.mit.edu	37	2	74600063	74600063	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:74600063G>C	ENST00000361874.3	-	7	762	c.445C>G	c.(445-447)Cga>Gga	p.R149G	DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000407639.2_Missense_Mutation_p.R15G|DCTN1_ENST00000409868.1_Missense_Mutation_p.R132G|DCTN1_ENST00000394003.3_Missense_Mutation_p.R142G|DCTN1_ENST00000409438.1_Missense_Mutation_p.R15G|DCTN1_ENST00000409567.3_Intron	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	149					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACCTTGGGTCGCCGAGTTGTG	0.517																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(445-447)Cga>Gga		dynactin 1							105.0	93.0	97.0					2																	74600063		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74600063G>C		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.445C>G	2.37:g.74600063G>C	ENSP00000354791:p.Arg149Gly					DCTN1_ENST00000394003.3_Missense_Mutation_p.R142G|DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000407639.2_Missense_Mutation_p.R15G|DCTN1_ENST00000409438.1_Missense_Mutation_p.R15G|DCTN1_ENST00000409567.3_Intron|DCTN1_ENST00000409868.1_Missense_Mutation_p.R132G	p.R149G	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			7	762	-			149					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.445C>G	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723548	0.30593	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000407639;ENST00000409438;ENST00000409868;ENST00000458655	T;T;T;T;T;T	0.76316	-0.77;-1.01;-0.7;-0.7;-0.96;-0.6	5.07	5.07	0.68467	.	.	.	.	.	T	0.75997	0.3926	N	0.14661	0.345	0.40538	D	0.98099	D;B;D;D	0.63046	0.987;0.0;0.992;0.992	D;B;D;D	0.70487	0.931;0.0;0.969;0.969	T	0.71961	-0.4434	9	0.20519	T	0.43	.	13.3215	0.60436	0.0:0.0:0.8413:0.1587	.	149;142;15;15	Q14203;A8MY36;Q14203-2;G5E9H4	DCTN1_HUMAN;.;.;.	G	149;142;15;15;132;156	ENSP00000354791:R149G;ENSP00000377571:R142G;ENSP00000384844:R15G;ENSP00000387270:R15G;ENSP00000387327:R132G;ENSP00000414315:R156G	ENSP00000354791:R149G	R	-	1	2	DCTN1	74453571	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.953000	0.56699	2.802000	0.96397	0.561000	0.74099	CGA		0.517	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		12	39	0	0	0	1	0	12	39				
KAL1	3730	broad.mit.edu	37	X	8536379	8536379	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:8536379G>A	ENST00000262648.3	-	8	1250	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	367	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CATAGTCACAGTCTGGCTGGA	0.438																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1099-1101)gaC>gaT		Kallmann syndrome 1 sequence							149.0	98.0	115.0					X																	8536379		2203	4300	6503	SO:0001819	synonymous_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8536379G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1101C>T	X.37:g.8536379G>A							p.D367D	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			8	1250	-			367			Fibronectin type-III 2.		B2RPF8	Silent	SNP	ENST00000262648.3	37	c.1101C>T	CCDS14130.1																																																																																				0.438	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		8	30	0	0	0	1	0	8	30				
BRWD3	254065	broad.mit.edu	37	X	79938022	79938022	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:79938022G>A	ENST00000373275.4	-	38	4555	c.4339C>T	c.(4339-4341)Cgg>Tgg	p.R1447W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1447					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						TTTCTGTACCGTGGCCTTCTC	0.383																																						ENST00000373275.4																			0				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						c.(4339-4341)Cgg>Tgg		bromodomain and WD repeat domain containing 3							296.0	232.0	254.0					X																	79938022		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79938022G>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.4339C>T	X.37:g.79938022G>A	ENSP00000362372:p.Arg1447Trp					BRWD3_ENST00000473691.1_5'UTR	p.R1447W	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			38	4555	-			1447					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4339C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721134	0.68959	.	.	ENSG00000165288	ENST00000373275	T	0.57107	0.42	4.82	4.82	0.62117	.	0.299786	0.34580	N	0.003856	T	0.42177	0.1191	N	0.24115	0.695	0.39294	D	0.964785	D	0.63880	0.993	P	0.46629	0.522	T	0.36601	-0.9741	9	.	.	.	-9.4662	12.2595	0.54642	0.0:0.0:0.8306:0.1694	.	1447	Q6RI45	BRWD3_HUMAN	W	1447	ENSP00000362372:R1447W	.	R	-	1	2	BRWD3	79824678	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.190000	0.58365	2.223000	0.72356	0.415000	0.27848	CGG		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		45	120	0	0	0	1	0	45	120				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	13	1	0	0.115264	1	0.116084	3	13				
FGD1	2245	broad.mit.edu	37	X	54472622	54472622	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:54472622C>T	ENST00000375135.3	-	18	3539	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	936					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCCTCCATCTCCCTGTCCTCA	0.647																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2806-2808)Gag>Aag		FYVE, RhoGEF and PH domain containing 1							29.0	24.0	26.0					X																	54472622		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54472622C>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2806G>A	X.37:g.54472622C>T	ENSP00000364277:p.Glu936Lys						p.E936K	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			18	3539	-			936					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2806G>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099162	0.76983	.	.	ENSG00000102302	ENST00000375135	T	0.64991	-0.13	5.79	5.79	0.91817	.	0.000000	0.53938	D	0.000045	T	0.56277	0.1974	N	0.08118	0	0.50813	D	0.999896	D	0.61080	0.989	P	0.52957	0.714	T	0.66131	-0.6000	10	0.72032	D	0.01	-16.0628	17.6058	0.88037	0.0:1.0:0.0:0.0	.	936	P98174	FGD1_HUMAN	K	936	ENSP00000364277:E936K	ENSP00000364277:E936K	E	-	1	0	FGD1	54489347	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.565000	0.73974	2.429000	0.82318	0.513000	0.50165	GAG		0.647	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		8	21	0	0	0	1	0	8	21				
MAP3K12	7786	broad.mit.edu	37	12	53895898	53895898	+	5'Flank	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:53895898C>G	ENST00000267079.2	-	0	0				TARBP2_ENST00000394357.2_Silent_p.L30L|TARBP2_ENST00000266987.2_Silent_p.L51L|TARBP2_ENST00000549028.1_3'UTR|MAP3K12_ENST00000547488.1_5'Flank|TARBP2_ENST00000456234.2_Silent_p.L30L|RP11-793H13.11_ENST00000602306.1_RNA|MAP3K12_ENST00000547151.1_5'Flank|TARBP2_ENST00000552857.1_Intron	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ACGACCTTCTCAAAGCCGAGG	0.602																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(151-153)ctC>ctG		TAR (HIV-1) RNA binding protein 2							98.0	82.0	88.0					12																	53895898		2203	4300	6503	SO:0001631	upstream_gene_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53895898C>G	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854		12.37:g.53895898C>G	Exception_encountered					TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000549028.1_3'UTR|TARBP2_ENST00000456234.2_Silent_p.L30L|TARBP2_ENST00000394357.2_Silent_p.L30L	p.L51L	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			2	636	+			51			DRBM 1.|Sufficient for interaction with PRKRA.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	c.153C>G	CCDS8860.1																																																																																				0.602	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		13	38	0	0	0	1	0	13	38				
PCDH8	5100	broad.mit.edu	37	13	53421549	53421549	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:53421549G>A	ENST00000377942.3	-	1	1226	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	PCDH8_ENST00000338862.4_Silent_p.I341I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	341	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGATGCGCACGATGACCTTGC	0.726																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(1021-1023)atC>atT		protocadherin 8							17.0	13.0	14.0					13																	53421549		2061	4115	6176	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421549G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1023C>T	13.37:g.53421549G>A						PCDH8_ENST00000338862.4_Silent_p.I341I	p.I341I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1226	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	341			Cadherin 3.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.1023C>T	CCDS9438.1																																																																																				0.726	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		5	14	0	0	0	1	0	5	14				
SLC35A5	55032	broad.mit.edu	37	3	112301560	112301560	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:112301560G>A	ENST00000492406.1	+	7	1535	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	418					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CAAGAGTGATGAGTCAGATGA	0.333																																						ENST00000492406.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						c.(1252-1254)Gag>Aag		solute carrier family 35, member A5							143.0	145.0	144.0					3																	112301560		2203	4300	6503	SO:0001583	missense	55032					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr3:112301560G>A	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.1252G>A	3.37:g.112301560G>A	ENSP00000417654:p.Glu418Lys					SLC35A5_ENST00000460713.1_3'UTR	p.E418K	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN			7	1535	+			418					D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	c.1252G>A	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194460	0.78902	.	.	ENSG00000138459	ENST00000492406	T	0.47528	0.84	5.42	5.42	0.78866	.	0.141910	0.64402	D	0.000007	T	0.42988	0.1227	L	0.52573	1.65	0.45594	D	0.998533	B	0.32918	0.39	B	0.27380	0.079	T	0.28996	-1.0026	10	0.31617	T	0.26	-9.3936	17.7446	0.88416	0.0:0.0:1.0:0.0	.	418	Q9BS91	S35A5_HUMAN	K	418	ENSP00000417654:E418K	ENSP00000417654:E418K	E	+	1	0	SLC35A5	113784250	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.020000	0.76419	2.687000	0.91594	0.585000	0.79938	GAG		0.333	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		15	27	0	0	0	1	0	15	27				
DOCK8	81704	broad.mit.edu	37	9	286491	286491	+	Missense_Mutation	SNP	G	G	A	rs3209441	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:286491G>A	ENST00000453981.1	+	3	299	c.187G>A	c.(187-189)Gac>Aac	p.D63N	DOCK8_ENST00000469391.1_5'UTR|DOCK8_ENST00000432829.2_5'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	63					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAGCCAGTGGACTTTGAAGG	0.517													G|||	351	0.0700879	0.0091	0.0807	5008	,	,		16827	0.0069		0.165	False		,,,				2504	0.1125					ENST00000453981.1																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(187-189)Gac>Aac		dedicator of cytokinesis 8		G	,,ASN/ASP	139,4267	97.6+/-136.3	4,131,2068	94.0	88.0	90.0		,,187	5.5	1.0	9	dbSNP_105	90	1513,7087	285.9+/-297.4	140,1233,2927	yes	utr-5,utr-5,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,23	144,1364,4995	AA,AG,GG		17.593,3.1548,12.7018	,,probably-damaging	,,63/2100	286491	1652,11354	2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:286491G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.187G>A	9.37:g.286491G>A	ENSP00000408464:p.Asp63Asn					DOCK8_ENST00000469391.1_5'UTR|DOCK8_ENST00000432829.2_5'UTR	p.D63N			Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	3	299	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	63					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.187G>A	CCDS6440.2	162	0.07417582417582418	10	0.02032520325203252	30	0.08287292817679558	0	0.0	122	0.16094986807387862	G	34	5.383843	0.95967	0.031548	0.17593	ENSG00000107099	ENST00000453981;ENST00000287364	T	0.29655	1.56	5.47	5.47	0.80525	.	.	.	.	.	T	0.00210	0.0006	M	0.73598	2.24	0.09310	P	1.0	D	0.89917	1.0	D	0.79108	0.992	T	0.00029	-1.2294	8	0.52906	T	0.07	.	19.3432	0.94352	0.0:0.0:1.0:0.0	rs3209441;rs17720970;rs52817242;rs57662488;rs3209441	63	Q8NF50	DOCK8_HUMAN	N	63	ENSP00000408464:D63N	ENSP00000287364:D63N	D	+	1	0	DOCK8	276491	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.479000	0.97929	2.574000	0.86865	0.563000	0.77884	GAC		0.517	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		4	42	0	0	0	1	0	4	42				
RELN	5649	broad.mit.edu	37	7	103130247	103130247	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:103130247G>A	ENST00000428762.1	-	60	9864	c.9705C>T	c.(9703-9705)tgC>tgT	p.C3235C	RELN_ENST00000424685.2_Silent_p.C3235C|RELN_ENST00000343529.5_Silent_p.C3235C|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3235	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGTGCCCGCTGCAGAGCTTGG	0.552																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9703-9705)tgC>tgT		reelin							99.0	74.0	83.0					7																	103130247		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103130247G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9705C>T	7.37:g.103130247G>A						RELN_ENST00000424685.2_Silent_p.C3235C|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.C3235C	p.C3235C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	60	9864	-			3235			EGF-like 8.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.9705C>T	CCDS47680.1																																																																																				0.552	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		16	28	0	0	0	1	0	16	28				
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:534288C>T	ENST00000451590.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000417302.1_Missense_Mutation_p.G12D	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		309	Substitution - Missense(309)	p.G12V(252)|p.G12D(48)|p.G12A(9)	urinary_tract(107)|thyroid(50)|skin(48)|upper_aerodigestive_tract(34)|soft_tissue(21)|stomach(14)|cervix(12)|salivary_gland(9)|breast(6)|pituitary(5)|oesophagus(1)|prostate(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053284|CM081305	HRAS	M	rs104894230	c.(34-36)gGc>gAc		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						78.0	74.0	75.0					11																	534288		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534288C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.35G>A	11.37:g.534288C>T	ENSP00000407586:p.Gly12Asp	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.G12D|HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR	p.G12D	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	222	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.35G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989265	0.53934	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	M	0.92412	3.305	0.80722	D	1	P;P	0.35628	0.458;0.513	B;B	0.42827	0.278;0.399	D	0.89215	0.3567	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	D	12	ENSP00000380722:G12D;ENSP00000380723:G12D;ENSP00000407586:G12D;ENSP00000388246:G12D;ENSP00000309845:G12D	ENSP00000309845:G12D	G	-	2	0	HRAS	524288	1.000000	0.71417	0.323000	0.25347	0.281000	0.26958	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		17	22	0	0	0	1	0	17	22				
AEBP1	165	broad.mit.edu	37	7	44151108	44151108	+	Silent	SNP	C	C	T	rs150374163	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:44151108C>T	ENST00000223357.3	+	15	2024	c.1719C>T	c.(1717-1719)ctC>ctT	p.L573L	AEBP1_ENST00000450684.2_Silent_p.L148L|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	573	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGCCCCAGCTCATGAAGGTGG	0.602													C|||	5	0.000998403	0.0038	0.0	5008	,	,		20732	0.0		0.0	False		,,,				2504	0.0					ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(1717-1719)ctC>ctT		AE binding protein 1		C		22,4384	27.2+/-55.0	0,22,2181	77.0	63.0	67.0		1719	2.1	1.0	7	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	AEBP1	NM_001129.3		0,22,6481	TT,TC,CC		0.0,0.4993,0.1692		573/1159	44151108	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44151108C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1719C>T	7.37:g.44151108C>T						AEBP1_ENST00000450684.2_Silent_p.L148L	p.L573L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			15	2024	+			573			Interaction with MAPK1 and MAPK3 (By similarity).|Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	37	c.1719C>T	CCDS5476.1																																																																																				0.602	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		8	12	0	0	0	1	0	8	12				
ARSD	414	broad.mit.edu	37	X	2825335	2825335	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:2825335C>T	ENST00000381154.1	-	10	1834	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	587					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCCCATCCTCGTGGCATGAA	0.557																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(1759-1761)Gag>Aag		arylsulfatase D							39.0	36.0	37.0					X																	2825335		2203	4299	6502	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2825335C>T	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1759G>A	X.37:g.2825335C>T	ENSP00000370546:p.Glu587Lys						p.E587K	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			10	1834	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	587					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1759G>A	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	c	0.278	-0.988261	0.02162	.	.	ENSG00000006756	ENST00000381154	D	0.93307	-3.2	3.03	-1.12	0.09808	Alkaline-phosphatase-like, core domain (1);	0.268421	0.29028	U	0.013366	T	0.76955	0.4060	N	0.05306	-0.075	0.19775	N	0.999955	B	0.09022	0.002	B	0.04013	0.001	T	0.66340	-0.5948	10	0.06099	T	0.92	.	4.1648	0.10301	0.0:0.307:0.1951:0.4979	.	587	P51689	ARSD_HUMAN	K	587	ENSP00000370546:E587K	ENSP00000370546:E587K	E	-	1	0	ARSD	2835335	0.049000	0.20398	0.003000	0.11579	0.002000	0.02628	1.150000	0.31639	-0.165000	0.10908	-0.309000	0.09137	GAG		0.557	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			16	47	0	0	0	1	0	16	47				
TRIOBP	11078	broad.mit.edu	37	22	38119735	38119735	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:38119735C>T	ENST00000406386.3	+	7	1427	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	391					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAGAGCCTCCTCTCCCAAC	0.557																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1171-1173)tCc>tTc		TRIO and F-actin binding protein							134.0	138.0	137.0					22																	38119735		1905	4126	6031	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119735C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1172C>T	22.37:g.38119735C>T	ENSP00000384312:p.Ser391Phe					RP1-37E16.12_ENST00000455236.1_RNA	p.S391F	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1427	+	Melanoma(58;0.0574)		391					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1172C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510337	0.64522	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.30182	1.54	3.33	3.33	0.38152	.	.	.	.	.	T	0.28499	0.0705	L	0.44542	1.39	0.80722	D	1	P	0.44578	0.838	B	0.41813	0.367	T	0.18023	-1.0350	9	0.87932	D	0	.	12.2201	0.54429	0.0:1.0:0.0:0.0	.	391	Q9H2D6	TARA_HUMAN	F	391	ENSP00000384312:S391F	ENSP00000384312:S391F	S	+	2	0	TRIOBP	36449681	0.002000	0.14202	0.115000	0.21578	0.132000	0.20833	1.521000	0.35910	1.707000	0.51288	0.196000	0.17591	TCC		0.557	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			26	83	0	0	0	1	0	26	83				
FAT1	2195	broad.mit.edu	37	4	187560919	187560919	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:187560919G>C	ENST00000441802.2	-	4	3808	c.3599C>G	c.(3598-3600)tCa>tGa	p.S1200*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1200	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAGCTTCCTTGACGTAGTTGT	0.328										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3598-3600)tCa>tGa		FAT atypical cadherin 1							143.0	144.0	144.0					4																	187560919		1862	4103	5965	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187560919G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3599C>G	4.37:g.187560919G>C	ENSP00000406229:p.Ser1200*	HNSCC(5;0.00058)					p.S1200*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			4	3808	-			1200			Cadherin 10.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.3599C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	44	10.871276	0.99481	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.7	4.7	0.59300	.	0.127265	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.4894	0.67639	0.0:0.0:1.0:0.0	.	.	.	.	X	1200	.	ENSP00000260147:S1200X	S	-	2	0	FAT1	187797913	1.000000	0.71417	0.178000	0.23040	0.967000	0.64934	8.644000	0.91044	2.455000	0.83008	0.655000	0.94253	TCA		0.328	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		16	50	0	0	0	1	0	16	50				
PTPN4	5775	broad.mit.edu	37	2	120620221	120620221	+	Splice_Site	SNP	T	T	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:120620221T>G	ENST00000263708.2	+	3	1017		c.e3+2			NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATAACCCAGTAAGTGTAAGA	0.373																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.e3+2		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						143.0	133.0	136.0					2																	120620221		2203	4300	6503	SO:0001630	splice_region_variant	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120620221T>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.246+2T>G	2.37:g.120620221T>G								NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			3	1017	+								B2RBV8|Q9UDA7	Splice_Site	SNP	ENST00000263708.2	37		CCDS2129.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413471	0.83449	.	.	ENSG00000088179	ENST00000263708;ENST00000488279	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6024	0.68450	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPN4	120336691	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.895000	0.75660	2.095000	0.63458	0.533000	0.62120	.		0.373	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2		Intron	15	36	0	0	0	1	0	15	36				
FAM8A1	51439	broad.mit.edu	37	6	17602854	17602854	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:17602854G>A	ENST00000259963.3	+	2	801	c.746G>A	c.(745-747)aGa>aAa	p.R249K		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	249	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TTGGCCCACAGATTTATGGCA	0.353																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(745-747)aGa>aAa		family with sequence similarity 8, member A1							138.0	138.0	138.0					6																	17602854		2203	4299	6502	SO:0001583	missense	51439					integral to membrane		g.chr6:17602854G>A	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.746G>A	6.37:g.17602854G>A	ENSP00000259963:p.Arg249Lys						p.R249K	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		2	801	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	249			RDD.		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.746G>A	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278533	0.95459	.	.	ENSG00000137414	ENST00000259963	.	.	.	5.1	5.1	0.69264	RDD (1);	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84502	0.0617	9	0.87932	D	0	-7.094	18.5673	0.91121	0.0:0.0:1.0:0.0	.	249	Q9UBU6	FA8A1_HUMAN	K	249	.	ENSP00000259963:R249K	R	+	2	0	FAM8A1	17710833	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.467000	0.97671	2.356000	0.79943	0.644000	0.83932	AGA		0.353	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			17	18	0	0	0	1	0	17	18				
PRRC2A	7916	broad.mit.edu	37	6	31593823	31593823	+	Missense_Mutation	SNP	G	G	A	rs201317702		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:31593823G>A	ENST00000376033.2	+	9	1100	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.R289Q|SNORA38_ENST00000363946.1_RNA	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	289	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCGGGCCCCCGAGGCTCAGGG	0.493																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(865-867)cGa>cAa		proline-rich coiled-coil 2A		G	GLN/ARG,GLN/ARG	0,3018		0,0,1509	50.0	58.0	55.0		866,866	5.0	1.0	6		55	1,5413		0,1,2706	yes	missense,missense	PRRC2A	NM_004638.3,NM_080686.2	43,43	0,1,4215	AA,AG,GG		0.0185,0.0,0.0119	probably-damaging,probably-damaging	289/2158,289/2158	31593823	1,8431	1509	2707	4216	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31593823G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.866G>A	6.37:g.31593823G>A	ENSP00000365201:p.Arg289Gln					PRRC2A_ENST00000376007.4_Missense_Mutation_p.R289Q|PRRC2A_ENST00000469577.1_3'UTR	p.R289Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			9	1100	+			289			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.866G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399306	0.42512	0.0	1.85E-4	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01998	4.51;4.51	4.96	4.96	0.65561	.	0.000000	0.45867	D	0.000332	T	0.06735	0.0172	M	0.70595	2.14	0.48236	D	0.999616	D	0.89917	1.0	P	0.62382	0.901	T	0.06752	-1.0809	10	0.87932	D	0	-12.8466	17.1487	0.86773	0.0:0.0:1.0:0.0	.	289	P48634	PRC2A_HUMAN	Q	289	ENSP00000365175:R289Q;ENSP00000365201:R289Q	ENSP00000365175:R289Q	R	+	2	0	PRRC2A	31701802	0.987000	0.35691	1.000000	0.80357	0.466000	0.32739	1.939000	0.40213	2.592000	0.87571	0.655000	0.94253	CGA		0.493	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		11	25	0	0	0	1	0	11	25				
AKAP12	9590	broad.mit.edu	37	6	151669886	151669886	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:151669886C>T	ENST00000253332.1	+	3	549	c.360C>T	c.(358-360)tcC>tcT	p.S120S	AKAP12_ENST00000359755.5_Silent_p.S15S|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000402676.2_Silent_p.S120S|AKAP12_ENST00000354675.6_Silent_p.S22S			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	120					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.S120S(1)|p.S120F(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAAGAGACTCCGATAAAGAGA	0.453																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.S120S(1)|p.S120F(1)	lung(2)	breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(358-360)tcC>tcT		A kinase (PRKA) anchor protein 12							46.0	45.0	45.0					6																	151669886		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151669886C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.360C>T	6.37:g.151669886C>T						AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000354675.6_Silent_p.S22S|AKAP12_ENST00000359755.5_Silent_p.S15S|AKAP12_ENST00000253332.1_Silent_p.S120S	p.S120S	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	600	+		Ovarian(120;0.125)	120					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.360C>T	CCDS5229.1																																																																																				0.453	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			10	21	0	0	0	1	0	10	21				
OR2S2	56656	broad.mit.edu	37	9	35958092	35958092	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:35958092C>G	ENST00000341959.2	-	1	59	c.4G>C	c.(4-6)Gaa>Caa	p.E2Q		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	2					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGCTTTTTCCATGTGATAT	0.507																																					Pancreas(172;293 2036 17878 24427 30946)	ENST00000341959.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17						c.(4-6)Gaa>Caa		olfactory receptor, family 2, subfamily S, member 2							23.0	24.0	24.0					9																	35958092		2203	4299	6502	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35958092C>G	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.4G>C	9.37:g.35958092C>G	ENSP00000344040:p.Glu2Gln						p.E2Q	NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	59	-			2					Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.4G>C	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644523	0.47258	.	.	ENSG00000122718	ENST00000341959	T	0.00547	6.66	3.87	3.87	0.44632	.	0.845040	0.10071	N	0.719648	T	0.00754	0.0025	L	0.49778	1.585	0.24849	N	0.992413	B	0.21688	0.059	B	0.21708	0.036	T	0.47018	-0.9149	10	0.49607	T	0.09	.	14.1254	0.65217	0.0:1.0:0.0:0.0	.	2	Q9NQN1	OR2S1_HUMAN	Q	2	ENSP00000344040:E2Q	ENSP00000344040:E2Q	E	-	1	0	OR2S2	35948092	0.159000	0.22864	0.884000	0.34674	0.250000	0.25880	0.422000	0.21296	2.441000	0.82636	0.655000	0.94253	GAA		0.507	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		4	42	0	0	0	1	0	4	42				
CNGB1	1258	broad.mit.edu	37	16	57938671	57938671	+	Silent	SNP	C	C	T	rs371181221		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:57938671C>T	ENST00000251102.8	-	26	2661	c.2601G>A	c.(2599-2601)acG>acA	p.T867T	CNGB1_ENST00000564448.1_Silent_p.T861T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	867					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAAAGACGCCCGTGAAATAAT	0.557																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2581-2583)acG>acA		cyclic nucleotide gated channel beta 1		C		0,3716		0,0,1858	104.0	111.0	109.0		2601	-10.1	0.0	16		109	1,8171		0,1,4085	no	coding-synonymous	CNGB1	NM_001297.4		0,1,5943	TT,TC,CC		0.0122,0.0,0.0084		867/1252	57938671	1,11887	1858	4086	5944	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57938671C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2601G>A	16.37:g.57938671C>T						CNGB1_ENST00000251102.8_Silent_p.T867T	p.T861T			Q14028	CNGB1_HUMAN			26	2643	-			867					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.2583G>A	CCDS42169.1																																																																																				0.557	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		39	80	0	0	0	1	0	39	80				
SMG7	9887	broad.mit.edu	37	1	183507529	183507529	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:183507529G>C	ENST00000347615.2	+	12	1368	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	SMG7_ENST00000456731.2_Missense_Mutation_p.E375Q|SMG7_ENST00000508461.1_Missense_Mutation_p.E375Q|SMG7_ENST00000367537.3_Missense_Mutation_p.E446Q|SMG7_ENST00000507469.1_Missense_Mutation_p.E417Q|SMG7_ENST00000515829.2_Missense_Mutation_p.E417Q	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	417					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACCACTTCCAGAGGAGTTTGA	0.318																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1336-1338)Gag>Cag		SMG7 nonsense mediated mRNA decay factor							168.0	164.0	165.0					1																	183507529		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183507529G>C	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1249G>C	1.37:g.183507529G>C	ENSP00000340766:p.Glu417Gln					SMG7_ENST00000456731.2_Missense_Mutation_p.E375Q|SMG7_ENST00000508461.1_Missense_Mutation_p.E375Q|SMG7_ENST00000515829.2_Missense_Mutation_p.E417Q|SMG7_ENST00000347615.2_Missense_Mutation_p.E417Q|SMG7_ENST00000507469.1_Missense_Mutation_p.E417Q	p.E446Q			Q92540	SMG7_HUMAN			13	1531	+			417					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1336G>C	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554598	0.86231	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0;0.999	T	0.80306	-0.1438	10	0.87932	D	0	-13.2061	18.3914	0.90484	0.0:0.0:1.0:0.0	.	375;446;375;417;417;417	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	Q	375;446;375;375;417;417;417	ENSP00000407629:E375Q;ENSP00000356507:E446Q;ENSP00000426915:E375Q;ENSP00000388390:E375Q;ENSP00000340766:E417Q;ENSP00000425133:E417Q;ENSP00000421358:E417Q	ENSP00000340766:E417Q	E	+	1	0	SMG7	181774152	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.905000	0.92613	2.327000	0.79052	0.557000	0.71058	GAG		0.318	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		27	70	0	0	0	1	0	27	70				
SLAIN1	122060	broad.mit.edu	37	13	78320940	78320940	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:78320940A>T	ENST00000466548.1	+	5	1168	c.1142A>T	c.(1141-1143)tAt>tTt	p.Y381F	SLAIN1_ENST00000488699.1_Missense_Mutation_p.Y239F|SLAIN1_ENST00000358679.3_Missense_Mutation_p.Y118F|SLAIN1_ENST00000418532.1_Missense_Mutation_p.Y162F|SLAIN1_ENST00000351546.3_Missense_Mutation_p.Y118F|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000267219.8_Missense_Mutation_p.Y162F|SLAIN1_ENST00000465831.1_3'UTR	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	381										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CAACAGTATTATTCACCTCAA	0.408																																						ENST00000466548.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1141-1143)tAt>tTt		SLAIN motif family, member 1							63.0	66.0	65.0					13																	78320940		2203	4300	6503	SO:0001583	missense	122060							g.chr13:78320940A>T	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1142A>T	13.37:g.78320940A>T	ENSP00000419730:p.Tyr381Phe					SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000358679.3_Missense_Mutation_p.Y118F|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000418532.1_Missense_Mutation_p.Y162F|SLAIN1_ENST00000267219.8_Missense_Mutation_p.Y162F|SLAIN1_ENST00000488699.1_Missense_Mutation_p.Y239F|SLAIN1_ENST00000351546.3_Missense_Mutation_p.Y118F	p.Y381F	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	5	1168	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	381					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	ENST00000466548.1	37	c.1142A>T		.	.	.	.	.	.	.	.	.	.	A	11.22	1.574022	0.28092	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000442759;ENST00000446759;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000441784;ENST00000496045;ENST00000474663;ENST00000358679	.	.	.	5.88	4.64	0.57946	.	0.243014	0.43110	D	0.000619	T	0.53658	0.1810	L	0.51422	1.61	0.80722	D	1	B;B;B	0.18461	0.028;0.028;0.001	B;B;B	0.14578	0.011;0.011;0.003	T	0.49916	-0.8888	8	.	.	.	-14.501	11.9911	0.53176	0.8704:0.0:0.0:0.1296	.	117;239;381	B7Z326;B7Z209;Q8ND83	.;.;SLAI1_HUMAN	F	381;381;162;162;212;239;162;118;118;118;118;118	.	.	Y	+	2	0	SLAIN1	77218941	0.996000	0.38824	0.997000	0.53966	0.995000	0.86356	3.591000	0.53986	2.248000	0.74166	0.459000	0.35465	TAT		0.408	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		14	42	0	0	0	1	0	14	42				
CHRD	8646	broad.mit.edu	37	3	184100717	184100717	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:184100717C>G	ENST00000204604.1	+	9	1302	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000450923.1_Silent_p.V352V|CHRD_ENST00000348986.3_Silent_p.V352V|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	352	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGCCAATGTCTCAGCCCAGG	0.592																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1054-1056)gtC>gtG		chordin							66.0	64.0	65.0					3																	184100717		2203	4300	6503	SO:0001819	synonymous_variant	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184100717C>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1056C>G	3.37:g.184100717C>G						EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Silent_p.V352V|CHRD_ENST00000450923.1_Silent_p.V352V|CHRD_ENST00000545352.1_5'UTR	p.V352V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1302	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		352			CHRD 2.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	37	c.1056C>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288844	0.23478	.	.	ENSG00000090539	ENST00000342610	.	.	.	4.79	2.97	0.34412	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55755	-0.8091	4	.	.	.	-0.4569	9.6934	0.40143	0.0:0.8272:0.0:0.1728	.	.	.	.	V	40	.	.	L	+	1	0	CHRD	185583411	0.999000	0.42202	0.983000	0.44433	0.821000	0.46438	1.703000	0.37846	1.152000	0.42452	0.563000	0.77884	CTC		0.592	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		5	19	0	0	0	1	0	5	19				
ZNF582	147948	broad.mit.edu	37	19	56896328	56896328	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:56896328T>C	ENST00000301310.4	-	5	616	c.458A>G	c.(457-459)gAc>gGc	p.D153G	ZNF582_ENST00000586929.1_Missense_Mutation_p.D153G|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGCATGCTGGTCAAAAGTGGG	0.378																																					Ovarian(183;1887 2032 4349 30507 51343)	ENST00000301310.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(457-459)gAc>gGc		zinc finger protein 582							134.0	133.0	133.0					19																	56896328		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56896328T>C	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.458A>G	19.37:g.56896328T>C	ENSP00000301310:p.Asp153Gly					ZNF582_ENST00000586929.1_Missense_Mutation_p.D153G	p.D153G	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	616	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	153					B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.458A>G	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	T	5.584	0.292481	0.10567	.	.	ENSG00000018869	ENST00000301310	T	0.14766	2.48	4.23	-8.45	0.00946	.	1.315740	0.05545	N	0.566516	T	0.03520	0.0101	N	0.02357	-0.585	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35500	-0.9786	10	0.17832	T	0.49	.	2.8064	0.05429	0.2628:0.3903:0.0851:0.2619	.	153;184	Q96NG8;B4DQZ9	ZN582_HUMAN;.	G	153	ENSP00000301310:D153G	ENSP00000301310:D153G	D	-	2	0	ZNF582	61588140	0.289000	0.24334	0.000000	0.03702	0.001000	0.01503	0.893000	0.28336	-2.405000	0.00575	-0.353000	0.07706	GAC		0.378	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		20	48	0	0	0	1	0	20	48				
ATM	472	broad.mit.edu	37	11	108198394	108198394	+	Missense_Mutation	SNP	C	C	T	rs150503164		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:108198394C>T	ENST00000452508.2	+	49	7187	c.6998C>T	c.(6997-6999)aCa>aTa	p.T2333I	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2333I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2333	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTAAAACTTACATACACAGAA	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(6997-6999)aCa>aTa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							84.0	76.0	78.0					11																	108198394		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108198394C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6998C>T	11.37:g.108198394C>T	ENSP00000388058:p.Thr2333Ile	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.T2333I|C11orf65_ENST00000525729.1_Intron	p.T2333I	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	48	7383	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2333			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6998C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.310996	0.01342	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.81659	-1.52;-1.52	5.55	3.24	0.37175	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.592314	0.19484	N	0.113155	T	0.44644	0.1303	N	0.00436	-1.5	0.19945	N	0.999949	B	0.02656	0.0	B	0.01281	0.0	T	0.41998	-0.9477	10	0.06365	T	0.9	.	9.9345	0.41543	0.0:0.1384:0.0:0.8616	.	2333	Q13315	ATM_HUMAN	I	2333	ENSP00000278616:T2333I;ENSP00000388058:T2333I	ENSP00000278616:T2333I	T	+	2	0	ATM	107703604	0.297000	0.24408	0.055000	0.19348	0.606000	0.37113	2.181000	0.42547	0.398000	0.25338	-0.414000	0.06135	ACA		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		11	23	0	0	0	1	0	11	23				
CACNG4	27092	broad.mit.edu	37	17	65026898	65026898	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:65026898C>G	ENST00000262138.3	+	4	764	c.762C>G	c.(760-762)ccC>ccG	p.P254P	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	254					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AGGCCTCGCCCTCCAGGGACG	0.637																																						ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(760-762)ccC>ccG		calcium channel, voltage-dependent, gamma subunit 4							54.0	54.0	54.0					17																	65026898		2203	4300	6503	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026898C>G	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.762C>G	17.37:g.65026898C>G							p.P254P	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	764	+	all_cancers(12;9.86e-11)		254					B2RCK0	Silent	SNP	ENST00000262138.3	37	c.762C>G	CCDS11667.1																																																																																				0.637	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		22	54	0	0	0	1	0	22	54				
SRP68	6730	broad.mit.edu	37	17	74035886	74035886	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:74035886G>A	ENST00000307877.2	-	16	1946	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_Silent_p.L256L|SRP68_ENST00000355113.5_Silent_p.L494L|SRP68_ENST00000539137.1_Silent_p.L557L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	595					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CCACATGGTTGAGGGCCAGGT	0.542																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(1783-1785)ctC>ctT		signal recognition particle 68kDa							102.0	82.0	89.0					17																	74035886		2203	4300	6503	SO:0001819	synonymous_variant	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74035886G>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1785C>T	17.37:g.74035886G>A						SRP68_ENST00000355113.5_Silent_p.L494L|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Silent_p.L557L|SRP68_ENST00000602720.1_Silent_p.L256L	p.L595L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			16	1946	-			595					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	c.1785C>T	CCDS11738.1																																																																																				0.542	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		12	32	0	0	0	1	0	12	32				
RFXAP	5994	broad.mit.edu	37	13	37401782	37401782	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:37401782G>A	ENST00000255476.2	+	3	845	c.711G>A	c.(709-711)tcG>tcA	p.S237S	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	237	C-terminal domain.				positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		TTTCTAAGTCGTTACTAAGAA	0.323																																						ENST00000255476.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(709-711)tcG>tcA		regulatory factor X-associated protein							68.0	65.0	66.0					13																	37401782		2203	4300	6503	SO:0001819	synonymous_variant	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37401782G>A	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.711G>A	13.37:g.37401782G>A						RFXAP_ENST00000472888.1_3'UTR	p.S237S	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	3	845	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	237			C-terminal domain.		B2R9T8|Q5VZM6|Q8TC40	Silent	SNP	ENST00000255476.2	37	c.711G>A	CCDS9359.1																																																																																				0.323	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		5	25	0	0	0	1	0	5	25				
CCSER1	401145	broad.mit.edu	37	4	91230515	91230515	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:91230515G>A	ENST00000509176.1	+	2	1368	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	CCSER1_ENST00000333691.8_Silent_p.V360V|CCSER1_ENST00000432775.2_Silent_p.V360V	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	360																	CTACAAGTGTGAGCCACTCAG	0.418																																						ENST00000509176.1																			0											c.(1078-1080)gtG>gtA		coiled-coil serine-rich protein 1							101.0	95.0	97.0					4																	91230515		1849	4101	5950	SO:0001819	synonymous_variant	401145							g.chr4:91230515G>A		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1080G>A	4.37:g.91230515G>A						CCSER1_ENST00000333691.8_Silent_p.V360V|CCSER1_ENST00000432775.2_Silent_p.V360V	p.V360V	NM_001145065.1	NP_001138537.1					2	1368	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.1080G>A	CCDS47099.1																																																																																				0.418	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		17	43	0	0	0	1	0	17	43				
EGFLAM	133584	broad.mit.edu	37	5	38370546	38370546	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:38370546G>T	ENST00000354891.3	+	6	1040	c.694G>T	c.(694-696)Gac>Tac	p.D232Y	EGFLAM_ENST00000322350.5_Missense_Mutation_p.D232Y	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	232	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.D232N(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGGCCCAGTGACATCATCCG	0.577																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			2	Substitution - Missense(2)	p.D232N(2)	lung(2)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(694-696)Gac>Tac		EGF-like, fibronectin type III and laminin G domains							40.0	39.0	39.0					5																	38370546		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38370546G>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.694G>T	5.37:g.38370546G>T	ENSP00000346964:p.Asp232Tyr					EGFLAM_ENST00000354891.3_Missense_Mutation_p.D232Y	p.D232Y	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			6	1040	+	all_lung(31;0.000385)		232			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.694G>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393767	0.25205	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.52754	0.65;0.65	5.82	-2.44	0.06502	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.640381	0.17696	N	0.165103	T	0.37517	0.1006	L	0.56340	1.77	0.09310	N	1	B;P	0.39737	0.331;0.685	B;B	0.39904	0.106;0.313	T	0.28933	-1.0028	10	0.72032	D	0.01	.	6.2637	0.20915	0.3492:0.2062:0.4447:0.0	.	232;232	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	Y	232	ENSP00000346964:D232Y;ENSP00000313084:D232Y	ENSP00000313084:D232Y	D	+	1	0	EGFLAM	38406303	0.001000	0.12720	0.000000	0.03702	0.704000	0.40688	0.604000	0.24164	-0.928000	0.03761	-0.254000	0.11334	GAC		0.577	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		11	29	1	0	0.010729	1	0.0108829	11	29				
PCDH15	65217	broad.mit.edu	37	10	55892742	55892742	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:55892742C>T	ENST00000320301.6	-	15	2204	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.E604K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E604K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E604K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E604K|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.E582K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E611K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E604K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E215K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E582K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E567K|PCDH15_ENST00000373965.2_Missense_Mutation_p.E611K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E609K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	604	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGAAGCACTTCAATATACACA	0.403										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1831-1833)Gaa>Aaa		protocadherin-related 15							116.0	105.0	108.0					10																	55892742		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55892742C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1810G>A	10.37:g.55892742C>T	ENSP00000322604:p.Glu604Lys	HNSCC(58;0.16)				PCDH15_ENST00000395432.2_Missense_Mutation_p.E567K|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E604K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E611K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E604K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E609K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E215K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E582K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E604K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E582K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E604K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E604K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E604K	p.E611K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			16	2225	-		Melanoma(3;0.117)|Lung SC(717;0.238)	604			Cadherin 5.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1831G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036063	0.93630	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63745	0.2537	L	0.48260	1.515	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.998;0.932;1.0;0.999;1.0;1.0;0.999;0.997;1.0;0.998;1.0;0.994	D;D;D;P;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.994;0.981;0.843;0.997;0.998;0.999;0.992;0.987;0.974;0.994;0.973;0.981;0.972	T	0.61207	-0.7109	9	0.45353	T	0.12	.	18.3257	0.90252	0.0:1.0:0.0:0.0	.	582;604;604;609;567;604;604;611;611;604;609;604;582;604	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	611;609;604;604;215;611;604;567;604;582;582;604;604;609;604	ENSP00000363076:E611K;ENSP00000410304:E609K;ENSP00000378826:E604K;ENSP00000386693:E215K;ENSP00000378832:E611K;ENSP00000378833:E604K;ENSP00000378820:E567K;ENSP00000354950:E604K;ENSP00000378821:E582K;ENSP00000363068:E582K;ENSP00000322604:E604K;ENSP00000378818:E604K;ENSP00000363066:E604K	ENSP00000322604:E604K	E	-	1	0	PCDH15	55562748	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.488000	0.81441	2.690000	0.91761	0.591000	0.81541	GAA		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		5	32	0	0	0	1	0	5	32				
ADRA2B	151	broad.mit.edu	37	2	96781855	96781855	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:96781855T>A	ENST00000409345.3	-	1	129	c.34A>T	c.(34-36)Aca>Tca	p.T12S		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	12					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATGGCCGCTGTGGCCTGCACG	0.677																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(34-36)Aca>Tca		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						17.0	22.0	20.0					2																	96781855		2092	4210	6302	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781855T>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.34A>T	2.37:g.96781855T>A	ENSP00000387281:p.Thr12Ser						p.T12S	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	129	-			12					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.34A>T	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999185	0.35226	.	.	ENSG00000222040	ENST00000409345	T	0.37058	1.22	4.42	3.26	0.37387	.	.	.	.	.	T	0.18593	0.0446	N	0.17800	0.525	0.44432	D	0.997356	B	0.33318	0.408	B	0.19666	0.026	T	0.05289	-1.0894	9	0.33141	T	0.24	.	8.0382	0.30506	0.0:0.0984:0.0:0.9016	.	12	P18089	ADA2B_HUMAN	S	12	ENSP00000387281:T12S	ENSP00000387281:T12S	T	-	1	0	ADRA2B	96145582	1.000000	0.71417	0.949000	0.38748	0.403000	0.30841	3.952000	0.56691	0.745000	0.32763	0.374000	0.22700	ACA		0.677	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			5	11	0	0	0	1	0	5	11				
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G	rs202198915	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:102213962C>G	ENST00000520347.1	-	2	2964	c.8G>C	c.(7-9)cGt>cCt	p.R3P	ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	3							metal ion binding (GO:0046872)	p.R3P(2)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398																																						ENST00000520347.1																			2	Substitution - Missense(2)	p.R3P(2)	ovary(2)	large_intestine(1)|ovary(2)	3						c.(7-9)cGt>cCt		zinc finger protein 706							66.0	63.0	64.0					8																	102213962		2203	4300	6503	SO:0001583	missense	51123					intracellular	zinc ion binding	g.chr8:102213962C>G	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.8G>C	8.37:g.102213962C>G	ENSP00000430823:p.Arg3Pro					ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P	p.R3P			Q9Y5V0	ZN706_HUMAN	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		2	2964	-	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		3					A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	c.8G>C	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171479	0.57584	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922;ENST00000520454	.	.	.	5.39	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	.	.	.	0.80722	D	1	P	0.35944	0.529	B	0.27796	0.083	T	0.52704	-0.8540	8	0.87932	D	0	-0.2165	12.1205	0.53889	0.0:0.8596:0.0:0.1404	.	3	Q9Y5V0	ZN706_HUMAN	P	3	.	ENSP00000311768:R3P	R	-	2	0	ZNF706	102283138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.963000	0.63694	1.292000	0.44672	0.655000	0.94253	CGT		0.398	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1	NM_016096		5	23	0	0	0	1	0	5	23				
MED1	5469	broad.mit.edu	37	17	37563801	37563801	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:37563801G>A	ENST00000300651.6	-	17	4896	c.4673C>T	c.(4672-4674)tCa>tTa	p.S1558L	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCTGAGCCTTGAGGGTCTGTC	0.448										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(4672-4674)tCa>tTa		mediator complex subunit 1							154.0	145.0	148.0					17																	37563801		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37563801G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4673C>T	17.37:g.37563801G>A	ENSP00000300651:p.Ser1558Leu	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.S1558L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4896	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1558					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4673C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278031	0.59758	.	.	ENSG00000125686	ENST00000300651	T	0.38401	1.14	5.63	5.63	0.86233	.	.	.	.	.	T	0.32704	0.0838	L	0.27053	0.805	0.80722	D	1	P	0.46987	0.888	B	0.42062	0.374	T	0.13764	-1.0497	9	0.66056	D	0.02	-7.4865	19.6713	0.95912	0.0:0.0:1.0:0.0	.	1558	Q15648	MED1_HUMAN	L	1558	ENSP00000300651:S1558L	ENSP00000300651:S1558L	S	-	2	0	MED1	34817327	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.395000	0.66291	2.648000	0.89879	0.655000	0.94253	TCA		0.448	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		18	61	0	0	0	1	0	18	61				
MB21D2	151963	broad.mit.edu	37	3	192516539	192516539	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:192516539T>C	ENST00000392452.2	-	2	1432	c.1112A>G	c.(1111-1113)aAc>aGc	p.N371S		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	371							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCACATCTTGTTGACCAGACA	0.532																																						ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(1111-1113)aAc>aGc		Mab-21 domain containing 2							78.0	62.0	68.0					3																	192516539		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516539T>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1112A>G	3.37:g.192516539T>C	ENSP00000376246:p.Asn371Ser						p.N371S	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	1432	-			371					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.1112A>G	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	T	1.356	-0.590197	0.03799	.	.	ENSG00000180611	ENST00000392452	T	0.09163	3.01	5.28	5.28	0.74379	.	0.104731	0.64402	D	0.000002	T	0.08447	0.0210	L	0.29908	0.895	0.58432	D	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.14531	-1.0469	10	0.09084	T	0.74	.	14.4206	0.67180	0.0:0.0:0.0:1.0	.	371	Q8IYB1	M21D2_HUMAN	S	371	ENSP00000376246:N371S	ENSP00000376246:N371S	N	-	2	0	MB21D2	193999233	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.257000	0.58816	1.988000	0.58038	0.533000	0.62120	AAC		0.532	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		11	36	0	0	0	1	0	11	36				
RBMXL1	494115	broad.mit.edu	37	1	89448636	89448636	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:89448636G>A	ENST00000321792.5	-	2	1301	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R292C	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	292	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GGAGCACTACGTGAGTTACCA	0.478																																						ENST00000399794.2																			0											c.(874-876)Cgt>Tgt		RNA binding motif protein, X-linked-like 1							193.0	188.0	190.0					1																	89448636		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448636G>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.874C>T	1.37:g.89448636G>A	ENSP00000318415:p.Arg292Cys					CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R292C|CCBL2_ENST00000370491.3_Intron	p.R292C	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1589	-			292			Ser-rich.			Missense_Mutation	SNP	ENST00000321792.5	37	c.874C>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857935	0.51376	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.76578	-1.03;-1.03	1.89	0.815	0.18763	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	L	0.57536	1.79	0.44221	D	0.99705	D	0.89917	1.0	P	0.61592	0.891	T	0.70702	-0.4799	10	0.41790	T	0.15	-3.1185	7.6616	0.28407	0.0:0.2668:0.7332:0.0	.	292	Q96E39	RBMXL_HUMAN	C	292	ENSP00000318415:R292C;ENSP00000446099:R292C	ENSP00000318415:R292C	R	-	1	0	RBMXL1	89221224	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	6.229000	0.72294	0.087000	0.17167	0.306000	0.20318	CGT		0.478	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		64	147	0	0	0	1	0	64	147				
PKNOX2	63876	broad.mit.edu	37	11	125300029	125300029	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:125300029A>T	ENST00000298282.9	+	12	1455	c.1184A>T	c.(1183-1185)aAc>aTc	p.N395I	PKNOX2_ENST00000542175.1_Missense_Mutation_p.N331I|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	395					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCAGGGACAAACCCCGATGGT	0.607																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1183-1185)aAc>aTc		PBX/knotted 1 homeobox 2							35.0	39.0	38.0					11																	125300029		1924	4117	6041	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125300029A>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1184A>T	11.37:g.125300029A>T	ENSP00000298282:p.Asn395Ile					PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.N331I	p.N395I	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	12	1455	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	395					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1184A>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390995	0.62066	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.86	4.82	4.82	0.62117	.	0.240269	0.39985	N	0.001206	T	0.74092	0.3671	N	0.08118	0	0.58432	D	0.999999	P;P;P	0.50943	0.642;0.94;0.51	B;P;B	0.44422	0.26;0.449;0.133	T	0.76881	-0.2795	10	0.35671	T	0.21	-15.7585	14.6685	0.68926	1.0:0.0:0.0:0.0	.	331;366;395	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	I	366;366;395;331	ENSP00000434732:N366I;ENSP00000433971:N366I;ENSP00000298282:N395I;ENSP00000441470:N331I	ENSP00000298282:N395I	N	+	2	0	PKNOX2	124805239	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.806000	0.47947	1.943000	0.56356	0.379000	0.24179	AAC		0.607	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			22	52	0	0	0	1	0	22	52				
ATP2B1	490	broad.mit.edu	37	12	90003779	90003779	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:90003779C>T	ENST00000428670.3	-	15	2833	c.2377G>A	c.(2377-2379)Gct>Act	p.A793T	ATP2B1_ENST00000261173.2_Missense_Mutation_p.A793T|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A793T|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A536T|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A793T			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	793					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCAGTTACAGCTACAACCTGG	0.348																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(2377-2379)Gct>Act		ATPase, Ca++ transporting, plasma membrane 1							132.0	119.0	124.0					12																	90003779		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90003779C>T	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2377G>A	12.37:g.90003779C>T	ENSP00000392043:p.Ala793Thr					ATP2B1_ENST00000393164.2_Missense_Mutation_p.A536T|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A793T|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A793T|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A793T	p.A793T			P20020	AT2B1_HUMAN			15	2833	-			793					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.2377G>A	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	35	5.532576	0.96446	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.96970	3.915	0.80722	D	1	P;D;D	0.89917	0.787;1.0;1.0	P;D;D	0.91635	0.479;0.999;0.999	D	0.99056	1.0829	10	0.87932	D	0	-11.2177	19.9414	0.97163	0.0:1.0:0.0:0.0	.	793;793;793	P20020-3;P20020-2;P20020-6	.;.;.	T	793;793;793;793;536	ENSP00000261173:A793T;ENSP00000343599:A793T;ENSP00000352054:A793T;ENSP00000392043:A793T;ENSP00000376869:A536T	ENSP00000261173:A793T	A	-	1	0	ATP2B1	88527910	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.779000	0.95612	0.650000	0.86243	GCT		0.348	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		18	40	0	0	0	1	0	18	40				
RP1-241P17.4	0	broad.mit.edu	37	X	114953312	114953312	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:114953312C>T	ENST00000449327.1	-	1	357	c.238G>A	c.(238-240)Gat>Aat	p.D80N																								GTATCTTCATCCTCCATTTCC	0.453																																						ENST00000449327.1																			0											c.(238-240)Gat>Aat																																						SO:0001583	missense	0							g.chrX:114953312C>T																												ENST00000449327.1:c.238G>A	X.37:g.114953312C>T	ENSP00000391266:p.Asp80Asn						p.D80N							1	357	-									Missense_Mutation	SNP	ENST00000449327.1	37	c.238G>A		.	.	.	.	.	.	.	.	.	.	C	14.06	2.423460	0.43020	.	.	ENSG00000228532	ENST00000449327	T	0.42131	0.98	1.79	1.79	0.24919	.	0.196730	0.29822	U	0.011120	T	0.44767	0.1309	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58393	-0.7644	6	0.46703	T	0.11	.	9.2359	0.37466	0.0:1.0:0.0:0.0	.	.	.	.	N	80	ENSP00000391266:D80N	ENSP00000391266:D80N	D	-	1	0	RP1-241P17.4	114859568	1.000000	0.71417	0.965000	0.40720	0.986000	0.74619	4.975000	0.63777	1.252000	0.44001	0.456000	0.33151	GAT		0.453	RP1-241P17.4-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000057980.1			8	53	0	0	0	1	0	8	53				
RNF103	7844	broad.mit.edu	37	2	86832363	86832363	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:86832363C>G	ENST00000237455.4	-	4	1629	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	221					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTCAAGTGTTCAGCATTATAA	0.373																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(661-663)Gaa>Caa		ring finger protein 103							115.0	117.0	117.0					2																	86832363		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86832363C>G	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.661G>C	2.37:g.86832363C>G	ENSP00000237455:p.Glu221Gln					RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR	p.E221Q	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	1629	-			221					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.661G>C	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424984	0.43020	.	.	ENSG00000239305	ENST00000237455	T	0.47528	0.84	5.64	5.64	0.86602	.	0.249502	0.45606	D	0.000349	T	0.48040	0.1478	L	0.44542	1.39	0.53005	D	0.999961	B	0.17667	0.023	B	0.27500	0.08	T	0.42189	-0.9466	10	0.66056	D	0.02	-4.1389	19.7014	0.96054	0.0:1.0:0.0:0.0	.	221	O00237	RN103_HUMAN	Q	221	ENSP00000237455:E221Q	ENSP00000237455:E221Q	E	-	1	0	RNF103	86685874	0.938000	0.31826	1.000000	0.80357	0.992000	0.81027	2.787000	0.47798	2.660000	0.90430	0.563000	0.77884	GAA		0.373	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		16	49	0	0	0	1	0	16	49				
FBXO25	26260	broad.mit.edu	37	8	381441	381441	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:381441C>G	ENST00000276326.5	+	3	354	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E	FBXO25_ENST00000352684.2_Silent_p.L28L|FBXO25_ENST00000382824.1_Silent_p.L28L|FBXO25_ENST00000350302.3_Missense_Mutation_p.Q79E	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	79	Interaction with beta-actin.				protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CACAAATACTCAAAGTAAGAT	0.264																																						ENST00000276326.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(235-237)Caa>Gaa		F-box protein 25							34.0	38.0	37.0					8																	381441		2187	4252	6439	SO:0001583	missense	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:381441C>G	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.235C>G	8.37:g.381441C>G	ENSP00000276326:p.Gln79Glu					FBXO25_ENST00000352684.2_Silent_p.L28L|FBXO25_ENST00000382824.1_Silent_p.L28L|FBXO25_ENST00000350302.3_Missense_Mutation_p.Q79E	p.Q79E	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	3	354	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	79			Interaction with beta-actin.		Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	ENST00000276326.5	37	c.235C>G	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	.	11.52	1.662027	0.29515	.	.	ENSG00000147364	ENST00000518240;ENST00000350302;ENST00000276326;ENST00000447233	T;T;T	0.16897	2.31;2.31;2.31	4.37	4.37	0.52481	.	0.102138	0.64402	D	0.000002	T	0.14270	0.0345	.	.	.	0.80722	D	1	B;B	0.28378	0.209;0.11	B;B	0.35510	0.204;0.157	T	0.10109	-1.0644	9	0.14252	T	0.57	-13.8689	14.7933	0.69860	0.0:1.0:0.0:0.0	.	79;79	Q8TCJ0-2;Q8TCJ0	.;FBX25_HUMAN	E	79	ENSP00000428872:Q79E;ENSP00000342077:Q79E;ENSP00000276326:Q79E	ENSP00000276326:Q79E	Q	+	1	0	FBXO25	371441	1.000000	0.71417	0.970000	0.41538	0.950000	0.60333	4.789000	0.62446	2.167000	0.68274	0.449000	0.29647	CAA		0.264	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173		4	6	0	0	0	1	0	4	6				
TMEM132A	54972	broad.mit.edu	37	11	60703846	60703846	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:60703846G>C	ENST00000453848.2	+	11	2697	c.2539G>C	c.(2539-2541)Gag>Cag	p.E847Q	TMEM132A_ENST00000005286.4_Missense_Mutation_p.E848Q			Q24JP5	T132A_HUMAN	transmembrane protein 132A	847	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACTGAGCTAGAGCTGGGCAT	0.597																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(2542-2544)Gag>Cag		transmembrane protein 132A							229.0	200.0	210.0					11																	60703846		2203	4299	6502	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60703846G>C	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2539G>C	11.37:g.60703846G>C	ENSP00000405823:p.Glu847Gln					TMEM132A_ENST00000453848.2_Missense_Mutation_p.E847Q	p.E848Q	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			11	2695	+			847			Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.2542G>C	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817902	0.71028	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.23950	1.88;1.88	5.15	5.15	0.70609	.	0.238846	0.29940	N	0.010808	T	0.51517	0.1679	M	0.82323	2.585	0.46749	D	0.99918	D;D	0.55605	0.972;0.972	P;P	0.58210	0.835;0.835	T	0.58589	-0.7610	10	0.87932	D	0	-30.8116	17.7751	0.88504	0.0:0.0:1.0:0.0	.	847;848	Q24JP5;Q24JP5-2	T132A_HUMAN;.	Q	598;847;848	ENSP00000405823:E847Q;ENSP00000005286:E848Q	ENSP00000005286:E848Q	E	+	1	0	TMEM132A	60460422	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.841000	0.86834	2.574000	0.86865	0.655000	0.94253	GAG		0.597	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		62	116	0	0	0	1	0	62	116				
UBE3C	9690	broad.mit.edu	37	7	157013389	157013389	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:157013389C>G	ENST00000348165.5	+	15	2281	c.1921C>G	c.(1921-1923)Cag>Gag	p.Q641E		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	641					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACAGGTCACTCAGCTCTATGT	0.557																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1921-1923)Cag>Gag		ubiquitin protein ligase E3C							112.0	89.0	97.0					7																	157013389		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157013389C>G	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1921C>G	7.37:g.157013389C>G	ENSP00000309198:p.Gln641Glu						p.Q641E	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	15	2281	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	641					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1921C>G	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109187	0.56398	.	.	ENSG00000009335	ENST00000348165	T	0.41400	1.0	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	M	0.63428	1.95	0.80722	D	1	B	0.24721	0.11	B	0.19148	0.024	T	0.42120	-0.9470	10	0.02654	T	1	-26.8043	19.1127	0.93323	0.0:1.0:0.0:0.0	.	641	Q15386	UBE3C_HUMAN	E	641	ENSP00000309198:Q641E	ENSP00000309198:Q641E	Q	+	1	0	UBE3C	156706150	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.088000	0.76901	2.591000	0.87537	0.655000	0.94253	CAG		0.557	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		11	35	0	0	0	1	0	11	35				
MLLT1	4298	broad.mit.edu	37	19	6217980	6217980	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:6217980G>C	ENST00000252674.7	-	7	1346	c.1183C>G	c.(1183-1185)Cag>Gag	p.Q395E	MLLT1_ENST00000585588.1_5'Flank	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	395					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTGTGGTTCTGGGATGGCTCG	0.632			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1183-1185)Cag>Gag		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							158.0	127.0	138.0					19																	6217980		2202	4300	6502	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6217980G>C		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1183C>G	19.37:g.6217980G>C	ENSP00000252674:p.Gln395Glu						p.Q395E	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			7	1346	-			395					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.1183C>G	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445783	0.43429	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.59	4.59	0.56863	.	0.124867	0.56097	D	0.000029	T	0.77089	0.4079	M	0.79475	2.455	0.50813	D	0.999896	P	0.49447	0.924	P	0.62298	0.9	T	0.76849	-0.2807	9	0.33940	T	0.23	-43.7325	15.977	0.80076	0.0:0.0:1.0:0.0	.	395	Q03111	ENL_HUMAN	E	395	.	ENSP00000252674:Q395E	Q	-	1	0	MLLT1	6168980	1.000000	0.71417	0.961000	0.40146	0.471000	0.32888	6.926000	0.75835	2.098000	0.63641	0.462000	0.41574	CAG		0.632	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		26	27	0	0	0	1	0	26	27				
DNAH11	8701	broad.mit.edu	37	7	21630575	21630575	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:21630575T>A	ENST00000409508.3	+	13	2240	c.2209T>A	c.(2209-2211)Ttg>Atg	p.L737M	DNAH11_ENST00000328843.6_Missense_Mutation_p.L737M	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	737	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTTTTGATGTTGAAGAAACA	0.279									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2209-2211)Ttg>Atg		dynein, axonemal, heavy chain 11							43.0	41.0	42.0					7																	21630575		1791	4053	5844	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21630575T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2209T>A	7.37:g.21630575T>A	ENSP00000475939:p.Leu737Met					DNAH11_ENST00000409508.3_Missense_Mutation_p.L737M	p.L737M			Q96DT5	DYH11_HUMAN			13	2240	+			737			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2209T>A		.	.	.	.	.	.	.	.	.	.	T	7.377	0.628088	0.14257	.	.	ENSG00000105877	ENST00000328843	T	0.60797	0.16	5.9	-3.28	0.05033	Dynein heavy chain, domain-1 (1);	2.362180	0.01624	N	0.023162	T	0.38081	0.1027	.	.	.	0.31829	N	0.624937	P	0.38617	0.64	B	0.36567	0.228	T	0.38542	-0.9656	9	0.13108	T	0.6	.	9.1476	0.36942	0.1097:0.5405:0.0:0.3498	.	737	Q96DT5	DYH11_HUMAN	M	737	ENSP00000330671:L737M	ENSP00000330671:L737M	L	+	1	2	DNAH11	21597100	0.015000	0.18098	0.992000	0.48379	0.321000	0.28281	-0.952000	0.03881	-0.393000	0.07739	-0.911000	0.02809	TTG		0.279	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		3	1	0	0	0	1	0	3	1				
IRF3	3661	broad.mit.edu	37	19	50165707	50165707	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:50165707C>T	ENST00000597198.1	-	5	957	c.576G>A	c.(574-576)ctG>ctA	p.L192L	IRF3_ENST00000377135.4_Silent_p.L192L|IRF3_ENST00000596822.1_Silent_p.L46L|IRF3_ENST00000600911.1_Silent_p.L192L|IRF3_ENST00000377139.3_Silent_p.L192L|IRF3_ENST00000309877.7_Silent_p.L192L|IRF3_ENST00000599223.1_Silent_p.L192L|IRF3_ENST00000596765.1_Silent_p.L46L|IRF3_ENST00000600022.1_Silent_p.L46L|IRF3_ENST00000599144.1_Silent_p.L46L|IRF3_ENST00000598808.1_Silent_p.L46L|IRF3_ENST00000601291.1_Silent_p.L192L|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000593922.1_Silent_p.L46L			Q14653	IRF3_HUMAN	interferon regulatory factor 3	192					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		ACAGCCGCTTCAGTGGGTTCT	0.662																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(574-576)ctG>ctA		interferon regulatory factor 3							18.0	21.0	20.0					19																	50165707		2202	4298	6500	SO:0001819	synonymous_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165707C>T		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.576G>A	19.37:g.50165707C>T						IRF3_ENST00000596822.1_Silent_p.L46L|IRF3_ENST00000377135.4_Silent_p.L192L|IRF3_ENST00000600911.1_Silent_p.L192L|IRF3_ENST00000599144.1_Silent_p.L46L|IRF3_ENST00000593922.1_Silent_p.L46L|IRF3_ENST00000309877.7_Silent_p.L192L|IRF3_ENST00000600022.1_Silent_p.L46L|IRF3_ENST00000598808.1_Silent_p.L46L|IRF3_ENST00000596765.1_Silent_p.L46L|IRF3_ENST00000601291.1_Silent_p.L192L|IRF3_ENST00000377139.3_Silent_p.L192L|IRF3_ENST00000599223.1_Silent_p.L192L	p.L192L			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	5	957	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	192					A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Silent	SNP	ENST00000597198.1	37	c.576G>A	CCDS12775.1																																																																																				0.662	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		3	11	0	0	0	1	0	3	11				
PAN2	9924	broad.mit.edu	37	12	56716227	56716227	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716227G>A	ENST00000425394.2	-	19	3065	c.2689C>T	c.(2689-2691)Ctt>Ttt	p.L897F	PAN2_ENST00000257931.5_Missense_Mutation_p.L896F|PAN2_ENST00000440411.3_Missense_Mutation_p.L893F|PAN2_ENST00000549090.1_5'Flank|PAN2_ENST00000548043.1_Missense_Mutation_p.L897F	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GGTTCAATAAGAAAGTCATTG	0.408																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2689-2691)Ctt>Ttt		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							99.0	92.0	94.0					12																	56716227		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56716227G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2689C>T	12.37:g.56716227G>A	ENSP00000401721:p.Leu897Phe					PAN2_ENST00000257931.5_Missense_Mutation_p.L896F|PAN2_ENST00000548043.1_Missense_Mutation_p.L897F|PAN2_ENST00000440411.3_Missense_Mutation_p.L893F	p.L897F	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			19	3065	-			897						Missense_Mutation	SNP	ENST00000425394.2	37	c.2689C>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497905	0.64186	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	5.24	5.24	0.73138	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	M	0.81497	2.545	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.72982	0.964;0.947;0.979	T	0.02371	-1.1169	10	0.21540	T	0.41	-15.3687	17.9814	0.89143	0.0:0.0:1.0:0.0	.	896;893;897	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	F	897;893;896;897	ENSP00000401721:L897F;ENSP00000388231:L893F;ENSP00000257931:L896F;ENSP00000449861:L897F	ENSP00000257931:L896F	L	-	1	0	PAN2	55002494	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.665000	0.61547	2.631000	0.89168	0.305000	0.20034	CTT		0.408	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		13	41	0	0	0	1	0	13	41				
TBCD	6904	broad.mit.edu	37	17	80772798	80772798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:80772798C>T	ENST00000355528.4	+	13	1436	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	TBCD_ENST00000397466.2_Nonsense_Mutation_p.R50*|TBCD_ENST00000539345.2_Nonsense_Mutation_p.R436*	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	436					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCTGCCGTCTCGACTCGTGGA	0.627																																						ENST00000355528.4																			0											c.(1306-1308)Cga>Tga		tubulin folding cofactor D							56.0	61.0	59.0					17																	80772798		2168	4266	6434	SO:0001587	stop_gained	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80772798C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1306C>T	17.37:g.80772798C>T	ENSP00000347719:p.Arg436*					TBCD_ENST00000397466.2_Nonsense_Mutation_p.R50*|TBCD_ENST00000539345.2_Nonsense_Mutation_p.R436*	p.R436*	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		13	1436	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	436					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Nonsense_Mutation	SNP	ENST00000355528.4	37	c.1306C>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	39	7.509210	0.98329	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000334614;ENST00000397466;ENST00000536182	.	.	.	4.83	3.82	0.43975	.	0.090146	0.42294	D	0.000723	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0823	0.42397	0.201:0.799:0.0:0.0	.	.	.	.	X	436;419;187;50;436	.	.	R	+	1	2	TBCD	78366087	0.976000	0.34144	0.021000	0.16686	0.770000	0.43624	2.489000	0.45285	0.967000	0.38186	0.585000	0.79938	CGA		0.627	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		5	24	0	0	0	1	0	5	24				
SLC24A2	25769	broad.mit.edu	37	9	19619639	19619639	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:19619639G>C	ENST00000341998.2	-	3	1082	c.1021C>G	c.(1021-1023)Ctc>Gtc	p.L341V	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L341V	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	341					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTCCTCATGAGACTGTTGTGG	0.498																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1021-1023)Ctc>Gtc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							213.0	188.0	196.0					9																	19619639		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19619639G>C	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1021C>G	9.37:g.19619639G>C	ENSP00000344801:p.Leu341Val					SLC24A2_ENST00000286344.3_Missense_Mutation_p.L341V	p.L341V	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	3	1082	-			341					B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1021C>G	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442685	0.43326	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.75260	-0.91;-0.92	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.72078	0.3416	M	0.68952	2.095	0.54753	D	0.999989	B;P	0.42409	0.393;0.779	B;B	0.39876	0.312;0.23	T	0.72861	-0.4164	9	.	.	.	.	12.9492	0.58389	0.0744:0.0:0.9256:0.0	.	341;341	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	V	341	ENSP00000344801:L341V;ENSP00000286344:L341V	.	L	-	1	0	SLC24A2	19609639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.599000	0.46231	2.740000	0.93945	0.650000	0.86243	CTC		0.498	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		28	83	0	0	0	1	0	28	83				
LRRN3	54674	broad.mit.edu	37	7	110763162	110763162	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:110763162G>A	ENST00000422987.3	+	2	1165	c.334G>A	c.(334-336)Gta>Ata	p.V112I	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.V112I|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V112I|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	112					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAATATTAATGTAAAAAAGAT	0.358																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(334-336)Gta>Ata		leucine rich repeat neuronal 3							51.0	52.0	52.0					7																	110763162		2203	4299	6502	SO:0001583	missense	54674					integral to membrane		g.chr7:110763162G>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.334G>A	7.37:g.110763162G>A	ENSP00000412417:p.Val112Ile					IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V112I|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.V112I|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron	p.V112I	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1380	+			112					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.334G>A	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	9.683	1.149697	0.21288	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.20881	2.04;2.04;2.04;4.43	6.16	4.37	0.52481	.	0.252107	0.27659	N	0.018386	T	0.09335	0.0230	N	0.08118	0	0.26675	N	0.971648	B	0.06786	0.001	B	0.04013	0.001	T	0.16453	-1.0402	10	0.45353	T	0.12	.	3.7795	0.08674	0.146:0.1611:0.5764:0.1165	.	112	Q9H3W5	LRRN3_HUMAN	I	112	ENSP00000312001:V112I;ENSP00000397312:V112I;ENSP00000412417:V112I;ENSP00000407927:V112I	ENSP00000312001:V112I	V	+	1	0	LRRN3	110550398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.192000	0.42649	0.935000	0.37341	0.650000	0.86243	GTA		0.358	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		8	39	0	0	0	1	0	8	39				
CHRNA6	8973	broad.mit.edu	37	8	42611822	42611822	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:42611822G>T	ENST00000276410.2	-	5	875	c.520C>A	c.(520-522)Cta>Ata	p.L174I	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Missense_Mutation_p.L159I	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	174					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	CCAAATTTTAGGGAACAGTTT	0.368																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(520-522)Cta>Ata		cholinergic receptor, nicotinic, alpha 6 (neuronal)							122.0	121.0	121.0					8																	42611822		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611822G>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.520C>A	8.37:g.42611822G>T	ENSP00000276410:p.Leu174Ile					CHRNA6_ENST00000534622.1_Missense_Mutation_p.L159I	p.L174I	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	875	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	174					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.520C>A	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499387	0.64298	.	.	ENSG00000147434	ENST00000276410;ENST00000534622;ENST00000533810	D;D;D	0.81908	-1.55;-1.55;-1.55	5.93	2.75	0.32379	Neurotransmitter-gated ion-channel ligand-binding (3);	0.096186	0.64402	D	0.000002	T	0.72637	0.3485	L	0.31207	0.915	0.43703	D	0.996161	B;P	0.36974	0.363;0.576	B;B	0.40782	0.271;0.34	T	0.70015	-0.4988	10	0.87932	D	0	.	4.4517	0.11624	0.1978:0.0:0.3044:0.4977	.	159;174	B4DQH1;Q15825	.;ACHA6_HUMAN	I	174;159;95	ENSP00000276410:L174I;ENSP00000433871:L159I;ENSP00000434659:L95I	ENSP00000276410:L174I	L	-	1	2	CHRNA6	42730979	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.618000	0.36954	0.824000	0.34613	0.650000	0.86243	CTA		0.368	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			18	70	1	0	1.99824e-07	1	2.09445e-07	18	70				
GLIS3	169792	broad.mit.edu	37	9	4286392	4286392	+	Missense_Mutation	SNP	G	G	A	rs200950499		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:4286392G>A	ENST00000381971.3	-	2	627	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	0					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCCGATGTCCGGTGGAGACTC	0.552																																						ENST00000381971.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(34-36)Cgg>Tgg		GLIS family zinc finger 3							38.0	42.0	41.0					9																	4286392		1983	4165	6148	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4286392G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000381971.3:c.34C>T	9.37:g.4286392G>A	ENSP00000371398:p.Arg12Trp						p.R12W	NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	2	627	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	0					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000381971.3	37	c.34C>T	CCDS43784.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049359	0.75846	.	.	ENSG00000107249	ENST00000381971;ENST00000477901;ENST00000481827	T	0.17854	2.25	5.75	5.75	0.90469	.	.	.	.	.	T	0.11324	0.0276	N	0.24115	0.695	0.36300	D	0.856978	P;B	0.44281	0.831;0.017	B;B	0.33042	0.157;0.007	T	0.13282	-1.0515	9	0.56958	D	0.05	.	14.1437	0.65336	0.0737:0.0:0.9262:0.0	.	12;12	F8WEV9;Q8NEA6-2	.;.	W	12	ENSP00000371398:R12W	ENSP00000371398:R12W	R	-	1	2	GLIS3	4276392	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.077000	0.50089	2.711000	0.92665	0.655000	0.94253	CGG		0.552	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	NM_152629		12	26	0	0	0	1	0	12	26				
PRKACB	5567	broad.mit.edu	37	1	84668368	84668368	+	Silent	SNP	C	C	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:84668368C>A	ENST00000370689.2	+	8	909	c.645C>A	c.(643-645)ggC>ggA	p.G215G	PRKACB_ENST00000370688.3_Silent_p.G215G|PRKACB_ENST00000370685.3_Silent_p.G262G|PRKACB_ENST00000370682.3_Silent_p.G219G|PRKACB_ENST00000370680.1_Silent_p.G221G|PRKACB_ENST00000394838.2_Silent_p.G222G|PRKACB_ENST00000394839.2_Silent_p.G185G	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TATCTCAGGGCTACAATAAGG	0.373																																						ENST00000370689.2																			0				breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16						c.(643-645)ggC>ggA		protein kinase, cAMP-dependent, catalytic, beta							157.0	152.0	154.0					1																	84668368		2203	4300	6503	SO:0001819	synonymous_variant	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84668368C>A	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.645C>A	1.37:g.84668368C>A						PRKACB_ENST00000394839.2_Silent_p.G185G|PRKACB_ENST00000370680.1_Silent_p.G221G|PRKACB_ENST00000370682.3_Silent_p.G219G|PRKACB_ENST00000394838.2_Silent_p.G222G|PRKACB_ENST00000370685.3_Silent_p.G262G|PRKACB_ENST00000370688.3_Silent_p.G215G	p.G215G	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	8	909	+			215			Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Silent	SNP	ENST00000370689.2	37	c.645C>A	CCDS691.1																																																																																				0.373	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		19	69	1	0	3.32936e-07	1	3.47678e-07	19	69				
F5	2153	broad.mit.edu	37	1	169526007	169526007	+	Missense_Mutation	SNP	C	C	G	rs370383592		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:169526007C>G	ENST00000367797.3	-	6	1030	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	F5_ENST00000367796.3_Missense_Mutation_p.E277Q|F5_ENST00000546081.1_Missense_Mutation_p.E140Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	277	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGGTTCTGCTCCAGGACCTGG	0.498																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(829-831)Gag>Cag		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)	C	GLN/GLU	0,4406		0,0,2203	156.0	125.0	136.0		829	5.9	1.0	1		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	F5	NM_000130.4	29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	277/2225	169526007	1,13005	2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169526007C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.829G>C	1.37:g.169526007C>G	ENSP00000356771:p.Glu277Gln					F5_ENST00000546081.1_Missense_Mutation_p.E140Q|F5_ENST00000367797.3_Missense_Mutation_p.E277Q	p.E277Q			P12259	FA5_HUMAN			6	1030	-	all_hematologic(923;0.208)		277			F5/8 type A 1.|Plastocyanin-like 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.829G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581922	0.65992	0.0	1.16E-4	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98996	-5.31;-5.31;-5.31	5.93	5.93	0.95920	Cupredoxin (2);	0.490123	0.24341	N	0.039377	D	0.97442	0.9163	L	0.37800	1.135	0.29960	N	0.819502	P	0.47350	0.894	P	0.47044	0.535	D	0.96886	0.9649	9	0.26408	T	0.33	-29.2314	20.3311	0.98718	0.0:1.0:0.0:0.0	.	277	P12259	FA5_HUMAN	Q	277;277;140	ENSP00000356771:E277Q;ENSP00000356770:E277Q;ENSP00000439664:E140Q	ENSP00000356770:E277Q	E	-	1	0	F5	167792631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.715000	0.54897	2.803000	0.96430	0.650000	0.86243	GAG		0.498	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		18	42	0	0	0	1	0	18	42				
C22orf29	79680	broad.mit.edu	37	22	19839757	19839757	+	Missense_Mutation	SNP	C	C	A	rs549013869	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:19839757C>A	ENST00000405640.1	-	2	696	c.28G>T	c.(28-30)Ggc>Tgc	p.G10C	GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.G10C|C22orf29_ENST00000407472.1_Missense_Mutation_p.G10C|C22orf29_ENST00000484072.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	10					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ATGCGAGGGCCCTGCTGACGG	0.637																																						ENST00000405640.1																			0				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(28-30)Ggc>Tgc		chromosome 22 open reading frame 29							53.0	54.0	54.0					22																	19839757		2202	4296	6498	SO:0001583	missense	79680							g.chr22:19839757C>A	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.28G>T	22.37:g.19839757C>A	ENSP00000384924:p.Gly10Cys					GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G10C|C22orf29_ENST00000328554.4_Missense_Mutation_p.G10C|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron	p.G10C			Q7L3V2	CV029_HUMAN			2	696	-	Colorectal(54;0.0993)		10					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	37	c.28G>T	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874915	0.33069	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640;ENST00000416337	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	3.6	2.56	0.30785	.	.	.	.	.	T	0.30792	0.0776	N	0.08118	0	0.22142	N	0.999334	D	0.89917	1.0	D	0.87578	0.998	T	0.08269	-1.0730	9	0.87932	D	0	-9.9817	6.3118	0.21169	0.0:0.8601:0.0:0.1399	.	10	Q7L3V2	CV029_HUMAN	C	10	ENSP00000386111:G10C;ENSP00000330596:G10C;ENSP00000384924:G10C;ENSP00000392994:G10C	ENSP00000330596:G10C	G	-	1	0	C22orf29	18219757	0.025000	0.19082	0.418000	0.26571	0.019000	0.09904	1.809000	0.38922	1.057000	0.40506	0.655000	0.94253	GGC		0.637	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		35	62	1	0	4.14481e-20	1	4.46e-20	35	62				
TUBB	203068	broad.mit.edu	37	6	30690335	30690335	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:30690335G>A	ENST00000327892.8	+	2	385	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	TUBB_ENST00000330914.3_5'UTR|TUBB_ENST00000396389.1_Missense_Mutation_p.E9K|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_5'UTR|TUBB_ENST00000435534.1_Missense_Mutation_p.E27K	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	27					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GATCAGTGATGAACATGGCAT	0.552																																						ENST00000396389.1																			0				breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16						c.(25-27)Gaa>Aaa		tubulin, beta class I	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)						81.0	56.0	65.0					6																	30690335		1511	2709	4220	SO:0001583	missense	203068				cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	g.chr6:30690335G>A	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.79G>A	6.37:g.30690335G>A	ENSP00000339001:p.Glu27Lys					TUBB_ENST00000330914.3_5'UTR|TUBB_ENST00000327892.8_Missense_Mutation_p.E27K|TUBB_ENST00000435534.1_Missense_Mutation_p.E27K|TUBB_ENST00000396384.1_5'UTR	p.E9K			P07437	TBB5_HUMAN			2	618	+			27					P05218|Q8WUC1|Q9CY33	Missense_Mutation	SNP	ENST00000327892.8	37	c.25G>A	CCDS4687.1	.	.	.	.	.	.	.	.	.	.	G	36	5.770776	0.96914	.	.	ENSG00000196230	ENST00000327892;ENST00000422827;ENST00000435534;ENST00000396389	T;T;T	0.75589	-0.95;-0.95;-0.95	4.72	4.72	0.59763	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	H	0.99825	4.815	0.80722	D	1	B;B	0.23490	0.086;0.006	P;B	0.44359	0.447;0.017	D	0.90256	0.4297	10	0.87932	D	0	.	15.5243	0.75890	0.0:0.0:1.0:0.0	.	27;27	P07437;F8VW92	TBB5_HUMAN;.	K	27;27;27;9	ENSP00000339001:E27K;ENSP00000391672:E27K;ENSP00000379672:E9K	ENSP00000339001:E27K	E	+	1	0	TUBB	30798314	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.326000	0.78906	0.313000	0.20887	GAA		0.552	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		16	29	0	0	0	1	0	16	29				
IRF3	3661	broad.mit.edu	37	19	50165479	50165479	+	Silent	SNP	C	C	T	rs375866058		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:50165479C>T	ENST00000597198.1	-	6	1089	c.708G>A	c.(706-708)agG>agA	p.R236R	IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000600911.1_Silent_p.R236R|IRF3_ENST00000377139.3_Silent_p.R236R|IRF3_ENST00000309877.7_Silent_p.R236R|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599144.1_Silent_p.R90R|IRF3_ENST00000598808.1_Silent_p.R90R|IRF3_ENST00000601291.1_Silent_p.R236R|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000593922.1_Silent_p.R90R			Q14653	IRF3_HUMAN	interferon regulatory factor 3	236	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CAGGCAGCGTCCTGTCTCCCA	0.642																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(706-708)agG>agA		interferon regulatory factor 3							42.0	44.0	43.0					19																	50165479		2203	4300	6503	SO:0001819	synonymous_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165479C>T		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.708G>A	19.37:g.50165479C>T						IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000600911.1_Silent_p.R236R|IRF3_ENST00000599144.1_Silent_p.R90R|IRF3_ENST00000593922.1_Silent_p.R90R|IRF3_ENST00000309877.7_Silent_p.R236R|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000598808.1_Silent_p.R90R|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000601291.1_Silent_p.R236R|IRF3_ENST00000377139.3_Silent_p.R236R|IRF3_ENST00000599223.1_Intron	p.R236R			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	1089	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	236			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Silent	SNP	ENST00000597198.1	37	c.708G>A	CCDS12775.1																																																																																				0.642	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		12	39	0	0	0	1	0	12	39				
FBXO34	55030	broad.mit.edu	37	14	55819051	55819051	+	Missense_Mutation	SNP	G	G	A	rs535237309		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:55819051G>A	ENST00000313833.4	+	2	2188	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.R648Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	648										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCCCTGTGCCGATGGCACCCC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20904	0.0		0.0	False		,,,				2504	0.001					ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1942-1944)cGa>cAa		F-box protein 34							96.0	92.0	93.0					14																	55819051		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55819051G>A	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1943G>A	14.37:g.55819051G>A	ENSP00000313159:p.Arg648Gln					FBXO34_ENST00000440021.1_Missense_Mutation_p.R648Q	p.R648Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	2188	+			648					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1943G>A	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345011	0.82022	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.22945	1.93;1.93	5.91	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.72894	2.215	0.58432	D	0.999998	P	0.44281	0.831	B	0.37650	0.255	T	0.22034	-1.0228	10	0.66056	D	0.02	-11.482	15.0617	0.71961	0.0678:0.0:0.9322:0.0	.	648	Q9NWN3	FBX34_HUMAN	Q	648	ENSP00000313159:R648Q;ENSP00000394117:R648Q	ENSP00000313159:R648Q	R	+	2	0	FBXO34	54888804	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	8.022000	0.88759	1.521000	0.48983	-0.136000	0.14681	CGA		0.552	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			20	80	0	0	0	1	0	20	80				
IRS1	3667	broad.mit.edu	37	2	227661962	227661962	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:227661962G>A	ENST00000305123.5	-	1	2513	c.1493C>T	c.(1492-1494)aCa>aTa	p.T498I	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	498					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCCAAGCCTGTTCCTGGGGT	0.602											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1492-1494)aCa>aTa		insulin receptor substrate 1							44.0	51.0	48.0					2																	227661962		2202	4300	6502	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661962G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1493C>T	2.37:g.227661962G>A	ENSP00000304895:p.Thr498Ile		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.T498I	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2513	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	498						Missense_Mutation	SNP	ENST00000305123.5	37	c.1493C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	7.635	0.679751	0.14907	.	.	ENSG00000169047	ENST00000305123	T	0.58358	0.34	3.99	3.99	0.46301	.	0.341471	0.21443	N	0.074454	T	0.33847	0.0877	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.21965	-1.0230	10	0.38643	T	0.18	-6.7496	15.5256	0.75901	0.0:0.0:1.0:0.0	.	498	P35568	IRS1_HUMAN	I	498	ENSP00000304895:T498I	ENSP00000304895:T498I	T	-	2	0	IRS1	227370206	0.976000	0.34144	0.021000	0.16686	0.812000	0.45895	4.567000	0.60850	2.511000	0.84671	0.555000	0.69702	ACA		0.602	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		13	70	0	0	0	1	0	13	70				
CCDC110	256309	broad.mit.edu	37	4	186382220	186382220	+	Missense_Mutation	SNP	G	G	A	rs376940059		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:186382220G>A	ENST00000307588.3	-	5	406	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Intron|CCDC110_ENST00000510617.1_Missense_Mutation_p.R111C	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	111						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTCAATGCGCGTGCCAAAC	0.338																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(331-333)Cgc>Tgc		coiled-coil domain containing 110		G	,CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	136.0	131.0	133.0		,331	0.2	0.0	4		133	0,8596		0,0,4298	no	intron,missense	CCDC110	NM_001145411.1,NM_152775.3	,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,benign	,111/834	186382220	1,12999	2202	4298	6500	SO:0001583	missense	256309					nucleus		g.chr4:186382220G>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.331C>T	4.37:g.186382220G>A	ENSP00000306776:p.Arg111Cys					CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000510617.1_Missense_Mutation_p.R111C|CCDC110_ENST00000393540.3_Intron	p.R111C	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	5	406	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	111					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.331C>T	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	9.190	1.025675	0.19512	2.27E-4	0.0	ENSG00000168491	ENST00000307588;ENST00000510617;ENST00000506876	T;T;T	0.45668	3.26;3.26;0.89	5.95	0.183	0.15082	.	0.491796	0.18486	N	0.139787	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.06405	0.002;0.001	T	0.13415	-1.0510	10	0.59425	D	0.04	2.0658	5.6362	0.17538	0.3409:0.0:0.5398:0.1193	.	111;111	B4DZA2;Q8TBZ0	.;CC110_HUMAN	C	111	ENSP00000306776:R111C;ENSP00000427246:R111C;ENSP00000425276:R111C	ENSP00000306776:R111C	R	-	1	0	CCDC110	186619214	0.007000	0.16637	0.000000	0.03702	0.005000	0.04900	0.324000	0.19610	-0.062000	0.13088	-0.839000	0.03059	CGC		0.338	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		15	45	0	0	0	1	0	15	45				
CNTROB	116840	broad.mit.edu	37	17	7838386	7838386	+	Missense_Mutation	SNP	C	C	T	rs376598201		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:7838386C>T	ENST00000563694.1	+	4	1442	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	CNTROB_ENST00000380255.3_Missense_Mutation_p.R173W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R173W|CNTROB_ENST00000380262.3_Missense_Mutation_p.R173W	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	173					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CACCAGCCTTCGGCCAGGGCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		14421	0.001		0.0	False		,,,				2504	0.0					ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(517-519)Cgg>Tgg		centrobin, centrosomal BRCA2 interacting protein		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	74.0	74.0		517,517	4.3	1.0	17		74	0,8600		0,0,4300	no	missense,missense	CNTROB	NM_001037144.5,NM_053051.3	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	173/926,173/904	7838386	1,13005	2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7838386C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.517C>T	17.37:g.7838386C>T	ENSP00000456335:p.Arg173Trp					CNTROB_ENST00000380255.3_Missense_Mutation_p.R173W|CNTROB_ENST00000563694.1_Missense_Mutation_p.R173W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R173W	p.R173W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			4	1442	+		Prostate(122;0.173)	173					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.517C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323732	0.81580	2.27E-4	0.0	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.51071	1.27;0.72	5.31	4.33	0.51752	.	0.337088	0.25344	N	0.031344	T	0.50888	0.1642	L	0.27053	0.805	0.37447	D	0.914653	B;B;D	0.89917	0.032;0.032;1.0	B;B;D	0.83275	0.016;0.016;0.996	T	0.52442	-0.8575	10	0.37606	T	0.19	-20.2372	8.7318	0.34503	0.0:0.83:0.0:0.17	.	173;173;173	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	W	173	ENSP00000369614:R173W;ENSP00000369605:R173W	ENSP00000369605:R173W	R	+	1	2	CNTROB	7779111	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.141000	0.42168	2.485000	0.83878	0.563000	0.77884	CGG		0.567	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		15	85	0	0	0	1	0	15	85				
PLEKHA5	54477	broad.mit.edu	37	12	19436279	19436279	+	Missense_Mutation	SNP	A	A	G	rs142101396		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:19436279A>G	ENST00000299275.6	+	11	1367	c.1361A>G	c.(1360-1362)tAc>tGc	p.Y454C	PLEKHA5_ENST00000309364.4_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Y212C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y346C|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y460C|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y346C|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Y454C	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	454					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATGGCCCGCTACCCTGAAGGT	0.393																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1360-1362)tAc>tGc		pleckstrin homology domain containing, family A member 5		A	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	56.0	54.0	55.0		1361,1361	3.1	1.0	12	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	PLEKHA5	NM_001143821.2,NM_019012.5	194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign	454/1175,454/1117	19436279	1,13005	2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436279A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1361A>G	12.37:g.19436279A>G	ENSP00000299275:p.Tyr454Cys					PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y346C|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Y212C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y346C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y460C	p.Y454C	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			11	1365	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		454					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1361A>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061933	0.36373	2.27E-4	0.0	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43	4.3	3.1	0.35709	.	0.063315	0.64402	N	0.000003	T	0.18467	0.0443	L	0.59436	1.845	0.40284	D	0.978429	B;B;B;B;B;P;P	0.37398	0.024;0.21;0.134;0.009;0.024;0.593;0.468	B;B;B;B;B;B;B	0.37780	0.023;0.191;0.093;0.023;0.017;0.21;0.258	T	0.03112	-1.1071	10	0.52906	T	0.07	-0.8913	10.2369	0.43288	0.9199:0.0:0.0801:0.0	.	454;346;346;460;460;454;454	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	C	454;454;454;461;454;460;454;212;454;346;346;346	ENSP00000325155:Y454C;ENSP00000347560:Y454C;ENSP00000352104:Y454C;ENSP00000311239:Y454C;ENSP00000404296:Y460C;ENSP00000299275:Y454C;ENSP00000440611:Y212C;ENSP00000439673:Y454C;ENSP00000400411:Y346C;ENSP00000439837:Y346C;ENSP00000440371:Y346C	ENSP00000299275:Y454C	Y	+	2	0	PLEKHA5	19327546	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	3.478000	0.53158	0.747000	0.32809	0.533000	0.62120	TAC		0.393	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		20	40	0	0	0	1	0	20	40				
RRAD	6236	broad.mit.edu	37	16	66956067	66956067	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:66956067C>T	ENST00000299759.6	-	5	1089	c.839G>A	c.(838-840)cGc>cAc	p.R280H	RRAD_ENST00000420652.1_Missense_Mutation_p.R280H			P55042	RAD_HUMAN	Ras-related associated with diabetes	280	Calmodulin-binding.				small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCCCAAGAAGCGCTTCGCCTT	0.622																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(838-840)cGc>cAc		Ras-related associated with diabetes							92.0	74.0	80.0					16																	66956067		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956067C>T	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.839G>A	16.37:g.66956067C>T	ENSP00000299759:p.Arg280His					RRAD_ENST00000420652.1_Missense_Mutation_p.R280H	p.R280H			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	1089	-		Ovarian(137;0.192)	280			Calmodulin-binding.		Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.839G>A	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	36	5.683442	0.96774	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.68181	-0.31;-0.31	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84456	0.0591	10	0.66056	D	0.02	.	20.328	0.98708	0.0:1.0:0.0:0.0	.	280	P55042	RAD_HUMAN	H	280	ENSP00000388744:R280H;ENSP00000299759:R280H	ENSP00000299759:R280H	R	-	2	0	RRAD	65513568	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.436000	0.80404	2.802000	0.96397	0.561000	0.74099	CGC		0.622	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		20	38	0	0	0	1	0	20	38				
NBPF12	149013	broad.mit.edu	37	1	146398477	146398477	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:146398477G>A	ENST00000442909.2	+	7	1299	c.463G>A	c.(463-465)Gca>Aca	p.A155T	NBPF12_ENST00000309471.8_Missense_Mutation_p.A80T|NBPF12_ENST00000446760.2_Missense_Mutation_p.A155T			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						GTGTAGACTGGCACAGCAACT	0.572																																						ENST00000442909.2																			0				ovary(2)	2						c.(463-465)Gca>Aca		neuroblastoma breakpoint family, member 12																																				SO:0001583	missense	149013							g.chr1:146398477G>A	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.463G>A	1.37:g.146398477G>A	ENSP00000391116:p.Ala155Thr					NBPF12_ENST00000309471.8_Missense_Mutation_p.A80T|NBPF12_ENST00000446760.2_Missense_Mutation_p.A155T	p.A155T							7	1299	+								O95877	Missense_Mutation	SNP	ENST00000442909.2	37	c.463G>A		.	.	.	.	.	.	.	.	.	.	N	11.28	1.590795	0.28357	.	.	ENSG00000186275	ENST00000446760;ENST00000442909;ENST00000309471	T;T;T	0.47528	3.71;3.85;0.84	1.12	1.12	0.20585	.	.	.	.	.	T	0.34106	0.0886	M	0.65975	2.015	0.09310	N	1	P	0.46395	0.877	P	0.51866	0.682	T	0.10706	-1.0618	9	0.25106	T	0.35	.	5.9887	0.19448	0.0:0.0:1.0:0.0	.	155	Q86T75-2	.	T	155;155;80	ENSP00000396525:A155T;ENSP00000391116:A155T;ENSP00000311131:A80T	ENSP00000311131:A80T	A	+	1	0	NBPF12	144765686	0.095000	0.21747	0.015000	0.15790	0.011000	0.07611	0.614000	0.24314	1.012000	0.39366	0.361000	0.22055	GCA		0.572	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	XM_003119146		20	138	0	0	0	1	0	20	138				
OPLAH	26873	broad.mit.edu	37	8	145113912	145113912	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:145113912C>G	ENST00000426825.1	-	4	515	c.434G>C	c.(433-435)gGa>gCa	p.G145A	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	145					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCGCCTCTCCACGGTGCAG	0.677																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(433-435)gGa>gCa		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						16.0	19.0	18.0					8																	145113912		2052	4153	6205	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145113912C>G	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.434G>C	8.37:g.145113912C>G	ENSP00000475943:p.Gly145Ala					OPLAH_ENST00000534424.1_5'UTR	p.G145A	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	515	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		145					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.434G>C		.	.	.	.	.	.	.	.	.	.	C	12.07	1.827149	0.32329	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.83	2.99	0.34606	Hydantoinaseoxoprolinase, N-terminal (1);	0.286879	0.39407	N	0.001379	T	0.32164	0.0820	.	.	.	0.34327	D	0.687285	B	0.02656	0.0	B	0.10450	0.005	T	0.33266	-0.9875	7	0.11794	T	0.64	.	9.8703	0.41170	0.0:0.8226:0.0:0.1774	.	145	O14841	OPLA_HUMAN	A	145	.	ENSP00000412071:G145A	G	-	2	0	OPLAH	145185900	0.004000	0.15560	0.031000	0.17742	0.108000	0.19459	1.065000	0.30592	1.036000	0.39998	0.561000	0.74099	GGA		0.677	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		2	3	0	0	0	1	0	2	3				
KIF21B	23046	broad.mit.edu	37	1	200959461	200959461	+	Splice_Site	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:200959461C>T	ENST00000422435.2	-	20	3152		c.e20-1		KIF21B_ENST00000332129.2_Splice_Site|KIF21B_ENST00000461742.2_Splice_Site|KIF21B_ENST00000360529.5_Splice_Site	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCCCTTTTCTGGGGTCAGA	0.642																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.e20-1		kinesin family member 21B							16.0	17.0	16.0					1																	200959461		2202	4300	6502	SO:0001630	splice_region_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200959461C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2836-1G>A	1.37:g.200959461C>T						KIF21B_ENST00000461742.2_Splice_Site|KIF21B_ENST00000422435.2_Splice_Site|KIF21B_ENST00000360529.5_Splice_Site		NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			20	3152	-								B2RP62|B7ZMI0|Q5T4J3	Splice_Site	SNP	ENST00000422435.2	37		CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852968	0.71719	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	5.2	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6356	0.62221	0.0:0.9249:0.0:0.0751	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21B	199226084	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.963000	0.70372	1.181000	0.42912	0.655000	0.94253	.		0.642	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	Intron	3	11	0	0	0	1	0	3	11				
ABCD4	5826	broad.mit.edu	37	14	74759535	74759535	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:74759535C>G	ENST00000356924.4	-	9	995	c.852G>C	c.(850-852)ctG>ctC	p.L284L	ABCD4_ENST00000557588.1_3'UTR|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Silent_p.L180L	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	284	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CAACGTAACTCAGGATGCTGC	0.537																																						ENST00000356924.4																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(850-852)ctG>ctC		ATP-binding cassette, sub-family D (ALD), member 4							101.0	98.0	99.0					14																	74759535		2203	4300	6503	SO:0001819	synonymous_variant	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74759535C>G	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.852G>C	14.37:g.74759535C>G						ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000557588.1_3'UTR|ABCD4_ENST00000298816.7_Silent_p.L180L|AC005519.4_ENST00000554532.2_RNA	p.L284L	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	9	995	-			284			ABC transmembrane type-1.		A8K5L7|Q6IAQ0|Q96E75	Silent	SNP	ENST00000356924.4	37	c.852G>C	CCDS9828.1																																																																																				0.537	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		15	58	0	0	0	1	0	15	58				
KPNA2	3838	broad.mit.edu	37	17	66039250	66039250	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:66039250C>G	ENST00000537025.2	+	7	1321	c.701C>G	c.(700-702)tCt>tGt	p.S234C	KPNA2_ENST00000330459.3_Missense_Mutation_p.S234C			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	234	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGACACTTTCTAATCTTTGC	0.438																																						ENST00000537025.2																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22						c.(700-702)tCt>tGt		karyopherin alpha 2 (RAG cohort 1, importin alpha 1)							237.0	248.0	244.0					17																	66039250		2203	4299	6502	SO:0001583	missense	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66039250C>G	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.701C>G	17.37:g.66039250C>G	ENSP00000438483:p.Ser234Cys					KPNA2_ENST00000330459.3_Missense_Mutation_p.S234C	p.S234C			P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	1321	+	all_cancers(12;1.18e-09)		234			NLS binding site (major) (By similarity).		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	c.701C>G	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386675	0.61956	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.73363	-0.74;-0.74	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000003	D	0.89515	0.6737	H	0.95365	3.66	0.80722	D	1	P	0.42620	0.785	P	0.55785	0.784	D	0.92044	0.5643	10	0.87932	D	0	.	19.1249	0.93378	0.0:1.0:0.0:0.0	.	234	P52292	IMA2_HUMAN	C	234	ENSP00000332455:S234C;ENSP00000438483:S234C	ENSP00000332455:S234C	S	+	2	0	KPNA2	63469712	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	7.640000	0.83355	2.502000	0.84385	0.557000	0.71058	TCT		0.438	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		91	218	0	0	0	1	0	91	218				
RYR1	6261	broad.mit.edu	37	19	38976759	38976759	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:38976759G>A	ENST00000359596.3	+	34	5464	c.5464G>A	c.(5464-5466)Ggt>Agt	p.G1822S	RYR1_ENST00000355481.4_Missense_Mutation_p.G1822S|RYR1_ENST00000360985.3_Missense_Mutation_p.G1822S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1822	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.G1822C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGTGCGCGACGGTGGGCAGCA	0.701																																						ENST00000355481.4																			1	Substitution - Missense(1)	p.G1822C(1)	lung(1)	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5464-5466)Ggt>Agt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						67.0	66.0	66.0					19																	38976759		2202	4293	6495	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976759G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5464G>A	19.37:g.38976759G>A	ENSP00000352608:p.Gly1822Ser					RYR1_ENST00000360985.3_Missense_Mutation_p.G1822S|RYR1_ENST00000359596.3_Missense_Mutation_p.G1822S	p.G1822S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5595	+	all_cancers(60;7.91e-06)		1822			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5464G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929860	0.52759	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72835	-0.69;-0.69;-0.69	3.7	3.7	0.42460	.	0.000000	0.64402	U	0.000003	T	0.71863	0.3390	L	0.33485	1.01	0.46542	D	0.99909	D;P	0.89917	1.0;0.909	D;P	0.91635	0.999;0.588	T	0.65907	-0.6054	10	0.14656	T	0.56	.	10.4488	0.44509	0.1008:0.0:0.8992:0.0	.	1822;1822	P21817-2;P21817	.;RYR1_HUMAN	S	1822	ENSP00000352608:G1822S;ENSP00000347667:G1822S;ENSP00000354254:G1822S	ENSP00000347667:G1822S	G	+	1	0	RYR1	43668599	1.000000	0.71417	0.084000	0.20598	0.774000	0.43823	5.449000	0.66619	1.886000	0.54624	0.585000	0.79938	GGT		0.701	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			31	93	0	0	0	1	0	31	93				
ZC4H2	55906	broad.mit.edu	37	X	64141759	64141759	+	Silent	SNP	G	G	A	rs149976823	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:64141759G>A	ENST00000374839.3	-	2	269	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000545618.1_Silent_p.L50L|ZC4H2_ENST00000337990.2_Silent_p.L32L|ZC4H2_ENST00000447788.2_Silent_p.L55L	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	55					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCTGTAGCAGAAGGTCCATC	0.517																																						ENST00000545618.1																			0				endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(148-150)Ctg>Ttg		zinc finger, C4H2 domain containing		G	,,	2,3833		0,1,1,1631,570	179.0	108.0	132.0		94,163,163	2.8	1.0	X	dbSNP_134	132	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	ZC4H2	NM_001178032.2,NM_001178033.2,NM_018684.3	,,	0,1,1,4059,2442	AA,AG,A,GG,G		0.0,0.0522,0.0189	,,	32/202,55/177,55/225	64141759	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	55906						metal ion binding|protein binding	g.chrX:64141759G>A	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.163C>T	X.37:g.64141759G>A						ZC4H2_ENST00000374839.3_Silent_p.L55L|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Silent_p.L55L|ZC4H2_ENST00000337990.2_Silent_p.L32L	p.L50L			Q9NQZ6	ZC4H2_HUMAN			3	711	-			55					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Silent	SNP	ENST00000374839.3	37	c.148C>T	CCDS14380.1																																																																																				0.517	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		8	25	0	0	0	1	0	8	25				
RECQL5	9400	broad.mit.edu	37	17	73627315	73627315	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:73627315G>A	ENST00000317905.5	-	10	1622	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	RECQL5_ENST00000443199.2_5'UTR|SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000423245.2_Missense_Mutation_p.S461F	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	488					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTGCCTCCAGAACCTTCGTC	0.612								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1462-1464)tCt>tTt	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							51.0	56.0	54.0					17																	73627315		2199	4297	6496	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73627315G>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1463C>T	17.37:g.73627315G>A	ENSP00000317636:p.Ser488Phe					RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.S461F	p.S488F	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		10	1622	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		488					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.1463C>T	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602329	0.28534	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.59364	0.27	5.97	4.98	0.66077	.	0.730608	0.13445	N	0.387350	T	0.60431	0.2268	M	0.66939	2.045	0.20074	N	0.999932	P;P	0.42483	0.781;0.781	B;B	0.44133	0.442;0.442	T	0.56571	-0.7957	10	0.62326	D	0.03	-6.4415	10.2608	0.43425	0.0:0.2916:0.5733:0.1352	.	488;461	O94762;Q6P4G0	RECQ5_HUMAN;.	F	83;488;488	ENSP00000317636:S488F	ENSP00000317636:S488F	S	-	2	0	RECQL5	71138910	0.113000	0.22115	0.711000	0.30485	0.886000	0.51366	1.798000	0.38814	1.496000	0.48567	0.655000	0.94253	TCT		0.612	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		15	57	0	0	0	1	0	15	57				
ADAMTS9	56999	broad.mit.edu	37	3	64633621	64633621	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:64633621C>T	ENST00000498707.1	-	11	2047	c.1705G>A	c.(1705-1707)Gga>Aga	p.G569R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G541R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	569	Disintegrin.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTGCCTTTCCAGGCTCGCAC	0.507																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(1705-1707)Gga>Aga		ADAM metallopeptidase with thrombospondin type 1 motif, 9							116.0	105.0	109.0					3																	64633621		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64633621C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1705G>A	3.37:g.64633621C>T	ENSP00000418735:p.Gly569Arg					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G541R	p.G569R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	11	2047	-		Lung NSC(201;0.00682)	569			Disintegrin.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.1705G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598402	0.87055	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.61158	0.13;0.15	5.89	5.89	0.94794	.	0.065218	0.64402	D	0.000007	T	0.77452	0.4132	M	0.74389	2.26	0.80722	D	1	D;D;D;P	0.89917	0.996;0.996;1.0;0.883	D;D;D;B	0.71656	0.953;0.944;0.974;0.281	T	0.78393	-0.2221	10	0.87932	D	0	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	541;569;569;569	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	R	541;569	ENSP00000295903:G541R;ENSP00000418735:G569R	ENSP00000295903:G541R	G	-	1	0	ADAMTS9	64608661	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.433000	0.80362	2.788000	0.95919	0.585000	0.79938	GGA		0.507	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			28	45	0	0	0	1	0	28	45				
GRAMD4	23151	broad.mit.edu	37	22	47063993	47063993	+	Splice_Site	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:47063993G>A	ENST00000406902.1	+	11	1072	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	GRAMD4_ENST00000361034.3_Splice_Site_p.E287K			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	287					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TTTACTGAAGGAACCTCCAAA	0.542																																						ENST00000406902.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12						c.e11-1		GRAM domain containing 4							30.0	31.0	31.0					22																	47063993		2203	4300	6503	SO:0001630	splice_region_variant	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47063993G>A		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.859-1G>A	22.37:g.47063993G>A						GRAMD4_ENST00000361034.3_Splice_Site_p.E287_splice	p.E287_splice			Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	11	1072	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	287					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Splice_Site	SNP	ENST00000406902.1	37	c.858_splice	CCDS33672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.76|17.76	3.468558|3.468558	0.63625|0.63625	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000406902;ENST00000361034|ENST00000456069	T;T|.	0.40476|.	1.03;1.03|.	4.37|4.37	4.37|4.37	0.52481|0.52481	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67961|0.67961	0.2949|0.2949	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.99;0.999|.	D;D|.	0.72982|.	0.979;0.954|.	T|T	0.66925|0.66925	-0.5800|-0.5800	9|5	.|.	.|.	.|.	-24.2712|-24.2712	14.8393|14.8393	0.70212|0.70212	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	109;287|.	B0QZ08;Q6IC98|.	.;GRAM4_HUMAN|.	K|E	287|109	ENSP00000385689:E287K;ENSP00000354313:E287K|.	.|.	E|G	+|+	1|2	0|0	GRAMD4|GRAMD4	45442657|45442657	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.198000|0.198000	0.23893|0.23893	8.582000|8.582000	0.90791|0.90791	2.152000|2.152000	0.67230|0.67230	0.555000|0.555000	0.69702|0.69702	GAA|GGA		0.542	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124	Missense_Mutation	13	25	0	0	0	1	0	13	25				
ODAM	54959	broad.mit.edu	37	4	71063017	71063017	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:71063017A>T	ENST00000396094.2	+	3	168	c.120A>T	c.(118-120)caA>caT	p.Q40H		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	40					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						ATAATGGTCAACTTTTGCCAC	0.274																																						ENST00000396094.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.(118-120)caA>caT		odontogenic, ameloblast asssociated							112.0	104.0	106.0					4																	71063017		1801	4060	5861	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71063017A>T	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.120A>T	4.37:g.71063017A>T	ENSP00000379401:p.Gln40His						p.Q40H	NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN			3	168	+			40					Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.120A>T	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	A	5.550	0.286395	0.10513	.	.	ENSG00000109205	ENST00000396094;ENST00000510709	T	0.49432	0.78	4.68	-9.37	0.00626	.	.	.	.	.	T	0.31575	0.0801	L	0.36672	1.1	0.19775	N	0.99995	B	0.12630	0.006	B	0.12156	0.007	T	0.29181	-1.0020	9	0.46703	T	0.11	0.1808	10.279	0.43528	0.1502:0.2333:0.6165:0.0	.	40	A1E959	ODAM_HUMAN	H	40;26	ENSP00000379401:Q40H	ENSP00000379401:Q40H	Q	+	3	2	ODAM	71097606	0.045000	0.20229	0.295000	0.24960	0.021000	0.10359	-1.061000	0.03472	-2.136000	0.00810	-0.326000	0.08463	CAA		0.274	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		5	23	0	0	0	1	0	5	23				
MIXL1	83881	broad.mit.edu	37	1	226413313	226413313	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:226413313G>A	ENST00000366810.5	+	2	563	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Missense_Mutation_p.E175K			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	167					cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		TCCTGGAACTGAAACGAAATG	0.557																																					Pancreas(72;1302 1881 20981 22800)	ENST00000366810.5																			0				breast(1)	1						c.(499-501)Gaa>Aaa		Mix paired-like homeobox							85.0	83.0	84.0					1																	226413313		2203	4300	6503	SO:0001583	missense	83881				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:226413313G>A	AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"""Homeoboxes / PRD class"""	13363	protein-coding gene	gene with protein product		609852	"""Mix1 homeobox (Xenopus laevis)-like 1"", ""Mix1 homeobox-like 1 (Xenopus laevis)"""			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.499G>A	1.37:g.226413313G>A	ENSP00000355775:p.Glu167Lys					MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Missense_Mutation_p.E175K	p.E167K			Q9H2W2	MIXL1_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	2	563	+	Breast(184;0.158)		167					B7ZLF9	Missense_Mutation	SNP	ENST00000366810.5	37	c.499G>A	CCDS1552.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597000	0.46318	.	.	ENSG00000185155	ENST00000542034;ENST00000366810	T;T	0.15017	2.46;2.46	5.53	5.53	0.82687	.	0.817114	0.10453	N	0.672893	T	0.13329	0.0323	L	0.29908	0.895	0.09310	N	1	P	0.42409	0.779	B	0.37989	0.262	T	0.08126	-1.0737	10	0.08381	T	0.77	1.3333	14.9527	0.71086	0.0:0.0:1.0:0.0	.	167	Q9H2W2	MIXL1_HUMAN	K	175;167	ENSP00000442439:E175K;ENSP00000355775:E167K	ENSP00000355775:E167K	E	+	1	0	MIXL1	224479936	0.023000	0.18921	0.016000	0.15963	0.260000	0.26232	2.202000	0.42743	2.592000	0.87571	0.655000	0.94253	GAA		0.557	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091526.3			37	66	0	0	0	1	0	37	66				
SLCO1B3	28234	broad.mit.edu	37	12	21015749	21015749	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:21015749T>C	ENST00000381545.3	+	8	907	c.688T>C	c.(688-690)Ttt>Ctt	p.F230L	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.F230L|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F230L|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F230L|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	230					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	GGGATCTCTGTTTGCTAAAAT	0.358																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(688-690)Ttt>Ctt		solute carrier organic anion transporter family, member 1B3							181.0	156.0	164.0					12																	21015749		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21015749T>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.688T>C	12.37:g.21015749T>C	ENSP00000370956:p.Phe230Leu					SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F230L|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F230L|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.F230L	p.F230L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			8	907	+	Esophageal squamous(101;0.149)		230					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.688T>C	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.081800	0.36758	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.74737	0.88;0.88;0.88;0.88;-0.87;0.88	3.9	2.73	0.32206	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.564222	0.19657	N	0.109077	T	0.58481	0.2125	L	0.27053	0.805	0.22571	N	0.998974	P;B;B	0.42735	0.788;0.008;0.008	P;B;B	0.45167	0.472;0.034;0.034	T	0.51663	-0.8677	10	0.06625	T	0.88	.	6.8411	0.23963	0.0:0.1889:0.0:0.8111	.	230;230;230	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	L	230;230;230;230;54;230	ENSP00000442000:F230L;ENSP00000261196:F230L;ENSP00000370956:F230L;ENSP00000451758:F230L;ENSP00000443225:F54L;ENSP00000441269:F230L	ENSP00000441269:F230L	F	+	1	0	SLCO1B3;RP11-545J16.1	20907016	0.016000	0.18221	0.202000	0.23494	0.903000	0.53119	1.109000	0.31135	0.392000	0.25172	0.377000	0.23210	TTT		0.358	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		9	32	0	0	0	1	0	9	32				
PAN2	9924	broad.mit.edu	37	12	56716463	56716463	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716463G>A	ENST00000425394.2	-	18	2961	c.2585C>T	c.(2584-2586)tCa>tTa	p.S862L	PAN2_ENST00000257931.5_Missense_Mutation_p.S861L|PAN2_ENST00000440411.3_Missense_Mutation_p.S858L|PAN2_ENST00000548043.1_Missense_Mutation_p.S862L	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CCCTGTGCGTGAGTCCAGGAT	0.602																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2584-2586)tCa>tTa		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							106.0	88.0	94.0					12																	56716463		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56716463G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2585C>T	12.37:g.56716463G>A	ENSP00000401721:p.Ser862Leu					PAN2_ENST00000257931.5_Missense_Mutation_p.S861L|PAN2_ENST00000548043.1_Missense_Mutation_p.S862L|PAN2_ENST00000440411.3_Missense_Mutation_p.S858L	p.S862L	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			18	2961	-			862						Missense_Mutation	SNP	ENST00000425394.2	37	c.2585C>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883239	0.51908	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	5.24	5.24	0.73138	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.348632	0.30732	N	0.008995	T	0.12220	0.0297	L	0.58101	1.795	0.39787	D	0.972385	B;B;B	0.28470	0.213;0.127;0.06	B;B;B	0.27076	0.076;0.076;0.02	T	0.06679	-1.0813	10	0.31617	T	0.26	-5.4254	17.9814	0.89143	0.0:0.0:1.0:0.0	.	861;858;862	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	L	862;858;861;862	ENSP00000401721:S862L;ENSP00000388231:S858L;ENSP00000257931:S861L;ENSP00000449861:S862L	ENSP00000257931:S861L	S	-	2	0	PAN2	55002730	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.354000	0.79424	2.631000	0.89168	0.305000	0.20034	TCA		0.602	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		33	53	0	0	0	1	0	33	53				
COL17A1	1308	broad.mit.edu	37	10	105799274	105799274	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:105799274G>C	ENST00000353479.5	-	43	3115	c.2825C>G	c.(2824-2826)tCc>tGc	p.S942C	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	942	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAAGAACTGGACCCTGGAAG	0.602																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2824-2826)tCc>tGc		collagen, type XVII, alpha 1							84.0	89.0	87.0					10																	105799274		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105799274G>C	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2825C>G	10.37:g.105799274G>C	ENSP00000340937:p.Ser942Cys					COL17A1_ENST00000369733.3_Intron	p.S942C	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	43	3115	-		Colorectal(252;0.103)|Breast(234;0.122)	942			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2825C>G	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624862	0.66901	.	.	ENSG00000065618	ENST00000353479	D	0.82893	-1.66	4.97	4.97	0.65823	.	0.000000	0.36778	N	0.002405	D	0.82898	0.5137	L	0.45352	1.415	0.80722	D	1	D	0.59767	0.986	P	0.51487	0.671	D	0.84998	0.0898	10	0.72032	D	0.01	-4.4393	13.7345	0.62809	0.0:0.0:1.0:0.0	.	942	Q9UMD9	COHA1_HUMAN	C	942	ENSP00000340937:S942C	ENSP00000340937:S942C	S	-	2	0	COL17A1	105789264	0.088000	0.21588	0.028000	0.17463	0.356000	0.29392	3.231000	0.51294	2.315000	0.78130	0.491000	0.48974	TCC		0.602	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		23	50	0	0	0	1	0	23	50				
DLC1	10395	broad.mit.edu	37	8	12958271	12958271	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:12958271A>T	ENST00000276297.4	-	9	1984	c.1575T>A	c.(1573-1575)gaT>gaA	p.D525E	DLC1_ENST00000512044.2_Missense_Mutation_p.D122E|DLC1_ENST00000358919.2_Missense_Mutation_p.D88E|DLC1_ENST00000520226.1_Missense_Mutation_p.D14E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	525					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCTCGTCTGAATCGTCACTCT	0.527																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1573-1575)gaT>gaA		deleted in liver cancer 1							30.0	32.0	31.0					8																	12958271		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12958271A>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1575T>A	8.37:g.12958271A>T	ENSP00000276297:p.Asp525Glu					DLC1_ENST00000512044.2_Missense_Mutation_p.D122E|DLC1_ENST00000520226.1_Missense_Mutation_p.D14E|DLC1_ENST00000358919.2_Missense_Mutation_p.D88E	p.D525E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	1984	-			525					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1575T>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.496130	0.26774	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.42131	0.98;0.98;0.98;2.74	5.0	0.0421	0.14216	.	0.103872	0.64402	N	0.000005	T	0.23611	0.0571	N	0.21282	0.65	0.80722	D	1	B;B;B	0.23806	0.091;0.055;0.005	B;B;B	0.27170	0.016;0.077;0.018	T	0.03354	-1.1045	10	0.30078	T	0.28	.	5.5172	0.16914	0.5843:0.1352:0.2806:0.0	.	525;122;88	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	E	525;88;122;14	ENSP00000276297:D525E;ENSP00000351797:D88E;ENSP00000422595:D122E;ENSP00000428028:D14E	ENSP00000276297:D525E	D	-	3	2	DLC1	13002642	0.910000	0.30920	0.913000	0.36048	0.823000	0.46562	0.095000	0.15127	-0.061000	0.13110	-0.256000	0.11100	GAT		0.527	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		12	32	0	0	0	1	0	12	32				
HSPG2	3339	broad.mit.edu	37	1	22181343	22181343	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:22181343G>C	ENST00000374695.3	-	48	6210	c.6131C>G	c.(6130-6132)tCa>tGa	p.S2044*	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2044	Ig-like C2-type 5.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTCCGTACCTGAAAGGACAAC	0.667																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(6130-6132)tCa>tGa		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						51.0	51.0	51.0					1																	22181343		2202	4300	6502	SO:0001587	stop_gained	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22181343G>C	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6131C>G	1.37:g.22181343G>C	ENSP00000363827:p.Ser2044*					HSPG2_ENST00000430507.1_5'UTR	p.S2044*	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	48	6210	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2044			Ig-like C2-type 5.		Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	ENST00000374695.3	37	c.6131C>G	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	45	11.891000	0.99614	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.54	5.54	0.83059	.	1.154950	0.06791	N	0.787004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	12.6883	0.56960	0.0:0.1657:0.8343:0.0	.	.	.	.	X	2044	.	ENSP00000363827:S2044X	S	-	2	0	HSPG2	22053930	0.994000	0.37717	0.967000	0.41034	0.027000	0.11550	2.203000	0.42752	2.620000	0.88729	0.561000	0.74099	TCA		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	24	0	0	0	1	0	4	24				
DMD	1756	broad.mit.edu	37	X	32662422	32662422	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:32662422C>T	ENST00000357033.4	-	11	1364	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	DMD_ENST00000288447.4_Missense_Mutation_p.M378I|DMD_ENST00000378677.2_Missense_Mutation_p.M382I|MIR548F5_ENST00000408421.1_RNA	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	386					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAATCCATCATGTACCCCT	0.378																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(1156-1158)atG>atA		dystrophin							90.0	80.0	83.0					X																	32662422		2202	4299	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32662422C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1158G>A	X.37:g.32662422C>T	ENSP00000354923:p.Met386Ile					DMD_ENST00000378677.2_Missense_Mutation_p.M382I|DMD_ENST00000288447.4_Missense_Mutation_p.M378I	p.M386I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			11	1364	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	386					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1158G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735086	0.89482	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.50277	0.75;0.75;0.75	5.92	5.92	0.95590	.	0.000000	0.42172	U	0.000745	T	0.72342	0.3448	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.63046	0.985;0.982;0.992;0.985	D;D;D;D	0.74674	0.977;0.961;0.984;0.977	T	0.70256	-0.4922	10	0.27082	T	0.32	.	19.2792	0.94046	0.0:1.0:0.0:0.0	.	378;378;386;382	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	I	378;382;386;386;263;378	ENSP00000367948:M382I;ENSP00000354923:M386I;ENSP00000288447:M378I	ENSP00000288447:M378I	M	-	3	0	DMD	32572343	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.818000	0.86416	2.505000	0.84491	0.594000	0.82650	ATG		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		20	58	0	0	0	1	0	20	58				
ZFP69	339559	broad.mit.edu	37	1	40945119	40945119	+	Missense_Mutation	SNP	C	C	T	rs548547006		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:40945119C>T	ENST00000372706.1	+	2	1092	c.86C>T	c.(85-87)gCg>gTg	p.A29V	ZFP69_ENST00000372705.3_Missense_Mutation_p.A29V			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	29	SCAN box.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A29V(1)									GTGGAGGGGGCGCCCCTGTGG	0.547																																						ENST00000372706.1																			1	Substitution - Missense(1)	p.A29V(1)	pancreas(1)								c.(85-87)gCg>gTg		ZFP69 zinc finger protein							44.0	47.0	46.0					1																	40945119		2203	4300	6503	SO:0001583	missense	339559							g.chr1:40945119C>T	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.86C>T	1.37:g.40945119C>T	ENSP00000361791:p.Ala29Val					ZFP69_ENST00000372705.3_Missense_Mutation_p.A29V	p.A29V							2	1092	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.86C>T	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.218713	0.00286	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04758	3.56;3.56	4.44	-2.17	0.07059	.	0.754197	0.10944	N	0.616873	T	0.01800	0.0057	N	0.02286	-0.61	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48875	-0.8996	10	0.10111	T	0.7	0.1816	10.1666	0.42884	0.0:0.4401:0.0:0.5599	.	29	Q49AA0	ZN642_HUMAN	V	29	ENSP00000361791:A29V;ENSP00000361790:A29V	ENSP00000361790:A29V	A	+	2	0	ZNF642	40717706	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.566000	0.05922	-0.640000	0.05495	-0.797000	0.03246	GCG		0.547	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		11	37	0	0	0	1	0	11	37				
CACNA1D	776	broad.mit.edu	37	3	53837489	53837489	+	Silent	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:53837489G>T	ENST00000350061.5	+	44	5986	c.5475G>T	c.(5473-5475)cgG>cgT	p.R1825R	CACNA1D_ENST00000288139.4_Silent_p.R1845R|CACNA1D_ENST00000422281.2_Silent_p.R1801R|CACNA1D_ENST00000544977.1_Silent_p.R204R	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1825					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTATTTGCCGGGAAGACCCAG	0.552																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5533-5535)cgG>cgT		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						141.0	143.0	142.0					3																	53837489		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53837489G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5475G>T	3.37:g.53837489G>T						CACNA1D_ENST00000350061.5_Silent_p.R1825R|CACNA1D_ENST00000544977.1_Silent_p.R204R|CACNA1D_ENST00000422281.2_Silent_p.R1801R	p.R1845R	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	45	5653	+			1825					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.5535G>T	CCDS46848.1																																																																																				0.552	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		32	108	1	0	6.00712e-18	1	6.43945e-18	32	108				
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48760046	48760046	+	Silent	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:48760046G>C	ENST00000341698.2	-	2	233	c.234C>G	c.(232-234)ctC>ctG	p.L78L	TMEM189_ENST00000557021.1_Silent_p.L78L|TMEM189_ENST00000371650.5_Silent_p.L78L|TMEM189_ENST00000371652.4_Silent_p.L78L	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CACCAACACCGAGTATGACGA	0.627																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(232-234)ctC>ctG		transmembrane protein 189							65.0	47.0	53.0					20																	48760046		2202	4299	6501	SO:0001819	synonymous_variant	387521							g.chr20:48760046G>C	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.234C>G	20.37:g.48760046G>C						TMEM189_ENST00000371650.5_Silent_p.L78L|TMEM189_ENST00000371652.4_Silent_p.L78L|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.L78L	p.L78L	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		2	394	-									Silent	SNP	ENST00000341698.2	37	c.234C>G	CCDS13424.1																																																																																				0.627	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			7	7	0	0	0	1	0	7	7				
PRIMA1	145270	broad.mit.edu	37	14	94245529	94245529	+	Silent	SNP	G	G	C	rs145840548	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:94245529G>C	ENST00000393140.1	-	3	324	c.222C>G	c.(220-222)tcC>tcG	p.S74S	PRIMA1_ENST00000393143.1_Silent_p.S74S|PRIMA1_ENST00000316227.3_Silent_p.S74S	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	74					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		TACCTggggcggagaggagtc	0.652																																						ENST00000393140.1																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(220-222)tcC>tcG		proline rich membrane anchor 1							11.0	12.0	11.0					14																	94245529		2168	4240	6408	SO:0001819	synonymous_variant	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94245529G>C		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.222C>G	14.37:g.94245529G>C						PRIMA1_ENST00000316227.3_Silent_p.S74S|PRIMA1_ENST00000393143.1_Silent_p.S74S	p.S74S	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	3	324	-		all_cancers(154;0.127)	74					Q86XR6	Silent	SNP	ENST00000393140.1	37	c.222C>G	CCDS9912.1																																																																																				0.652	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		4	6	0	0	0	1	0	4	6				
SLC18B1	116843	broad.mit.edu	37	6	133092078	133092078	+	Splice_Site	SNP	C	C	T	rs368128212		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:133092078C>T	ENST00000275227.4	-	13	1351	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R		NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	419					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											ATGGCTAATCCCTTAAACACA	0.323																																						ENST00000275227.4																			0											c.e13-1		solute carrier family 18, subfamily B, member 1		C	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	103.0	124.0	117.0		1255	4.8	1.0	6		117	0,8600		0,0,4300	no	missense-near-splice	C6orf192	NM_052831.2	125	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	419/457	133092078	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	116843				transmembrane transport	integral to membrane		g.chr6:133092078C>T	AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.1255-1G>A	6.37:g.133092078C>T							p.G419_splice	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN			13	1351	-			419					A8K1K3|B3KW77|Q6ISF2	Splice_Site	SNP	ENST00000275227.4	37	c.1254_splice	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938141	0.52972	4.54E-4	0.0	ENSG00000146409	ENST00000275227	T	0.59906	0.23	4.81	4.81	0.61882	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.118615	0.56097	D	0.000032	T	0.68081	0.2962	M	0.67953	2.075	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	T	0.70483	-0.4859	10	0.66056	D	0.02	-14.0718	15.2698	0.73693	0.0:1.0:0.0:0.0	.	419	Q6NT16	CF192_HUMAN	R	419	ENSP00000275227:G419R	ENSP00000275227:G419R	G	-	1	0	C6orf192	133133771	1.000000	0.71417	0.998000	0.56505	0.276000	0.26787	4.161000	0.58170	2.658000	0.90341	0.563000	0.77884	GGA		0.323	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1	NM_052831	Missense_Mutation	32	68	0	0	0	1	0	32	68				
ZMAT5	55954	broad.mit.edu	37	22	30138423	30138423	+	Silent	SNP	C	C	T	rs201840010		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:30138423C>T	ENST00000344318.3	-	3	290	c.174G>A	c.(172-174)agG>agA	p.R58R	ZMAT5_ENST00000397781.3_Silent_p.R58R	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	58					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			GTAGAAACTTCCTGCAGGGCC	0.582																																						ENST00000397781.3																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(172-174)agG>agA		zinc finger, matrin-type 5							84.0	83.0	83.0					22																	30138423		2203	4300	6503	SO:0001819	synonymous_variant	55954				mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding	g.chr22:30138423C>T		CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"""Zinc fingers, matrin-type"""	28046	protein-coding gene	gene with protein product	"""U11/U12 snRNP 20K"""					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.174G>A	22.37:g.30138423C>T						ZMAT5_ENST00000344318.3_Silent_p.R58R	p.R58R	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)		4	424	-			58					A8K9F6	Silent	SNP	ENST00000344318.3	37	c.174G>A	CCDS13868.1																																																																																				0.582	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1	NM_019103		21	68	0	0	0	1	0	21	68				
FAM53B	9679	broad.mit.edu	37	10	126311885	126311885	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:126311885C>T	ENST00000337318.3	-	5	1406	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	FAM53B_ENST00000392754.3_Missense_Mutation_p.D399N|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	399										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCCCCGCGGTCCCGCCAGGCT	0.677																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(1195-1197)Gac>Aac		family with sequence similarity 53, member B							25.0	27.0	27.0					10																	126311885		2192	4282	6474	SO:0001583	missense	9679							g.chr10:126311885C>T	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1195G>A	10.37:g.126311885C>T	ENSP00000338532:p.Asp399Asn					RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.D399N	p.D399N	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1406	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	399					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1195G>A	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572267	0.28092	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.08	4.16	0.48862	.	0.137618	0.48767	D	0.000166	T	0.43765	0.1262	L	0.44542	1.39	0.80722	D	1	P	0.42518	0.782	B	0.41174	0.349	T	0.32561	-0.9902	9	0.38643	T	0.18	-11.5246	9.8483	0.41041	0.0:0.8429:0.0:0.1571	.	399	Q14153	FA53B_HUMAN	N	399	.	ENSP00000338532:D399N	D	-	1	0	FAM53B	126301875	0.113000	0.22115	0.998000	0.56505	0.072000	0.16883	1.056000	0.30480	2.632000	0.89209	0.655000	0.94253	GAC		0.677	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		19	44	0	0	0	1	0	19	44				
KCNG2	26251	broad.mit.edu	37	18	77659747	77659747	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr18:77659747G>A	ENST00000316249.3	+	2	1332	c.1332G>A	c.(1330-1332)tcG>tcA	p.S444S	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	444					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGGACAGCTCGCAGGGCCCCG	0.756																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1330-1332)tcG>tcA		potassium voltage-gated channel, subfamily G, member 2																																				SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659747G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1332G>A	18.37:g.77659747G>A						KCNG2_ENST00000590307.1_3'UTR	p.S444S	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1332	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	444						Silent	SNP	ENST00000316249.3	37	c.1332G>A	CCDS12019.1																																																																																				0.756	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		8	22	0	0	0	1	0	8	22				
ESYT1	23344	broad.mit.edu	37	12	56525335	56525335	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56525335C>T	ENST00000394048.5	+	6	1053	c.789C>T	c.(787-789)ttC>ttT	p.F263F	ESYT1_ENST00000541590.1_Silent_p.F263F|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000267113.4_Silent_p.F263F	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	263	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGTCAATGTTCTTCATCCGAC	0.537																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(787-789)ttC>ttT		extended synaptotagmin-like protein 1							137.0	141.0	139.0					12																	56525335		2203	4300	6503	SO:0001819	synonymous_variant	23344					integral to membrane		g.chr12:56525335C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.789C>T	12.37:g.56525335C>T						ESYT1_ENST00000267113.4_Silent_p.F263F|ESYT1_ENST00000541590.1_Silent_p.F263F	p.F263F	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			6	1053	+			263					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	c.789C>T	CCDS8904.1																																																																																				0.537	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		50	106	0	0	0	1	0	50	106				
COL9A2	1298	broad.mit.edu	37	1	40767522	40767522	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:40767522C>T	ENST00000372748.3	-	31	1928	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	611	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGGGTGCCCCCGTCCCACTTC	0.512																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(1831-1833)cGg>cAg		collagen, type IX, alpha 2							47.0	47.0	47.0					1																	40767522		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40767522C>T	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1832G>A	1.37:g.40767522C>T	ENSP00000361834:p.Arg611Gln					COL9A2_ENST00000466267.1_5'UTR	p.R611Q	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		31	1928	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	611			Triple-helical region 2 (COL2).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.1832G>A	CCDS450.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902648	0.92035	.	.	ENSG00000049089	ENST00000372748	D	0.94184	-3.37	5.35	5.35	0.76521	.	0.114632	0.56097	D	0.000022	D	0.94272	0.8160	L	0.52266	1.64	0.48185	D	0.999607	D	0.76494	0.999	P	0.58130	0.833	D	0.92817	0.6269	10	0.33141	T	0.24	.	16.6023	0.84819	0.0:1.0:0.0:0.0	.	611	Q14055	CO9A2_HUMAN	Q	611	ENSP00000361834:R611Q	ENSP00000361834:R611Q	R	-	2	0	COL9A2	40540109	0.995000	0.38212	0.994000	0.49952	0.985000	0.73830	2.845000	0.48254	2.780000	0.95670	0.655000	0.94253	CGG		0.512	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		7	19	0	0	0	1	0	7	19				
PCK2	5106	broad.mit.edu	37	14	24569206	24569206	+	Nonsense_Mutation	SNP	C	C	T	rs373164648		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:24569206C>T	ENST00000216780.4	+	7	1286	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	PCK2_ENST00000561286.1_Nonsense_Mutation_p.R206*|PCK2_ENST00000545054.2_Nonsense_Mutation_p.R206*|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R352*|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Nonsense_Mutation_p.R206*|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R340*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	340					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CCTAACAGGTCGACTCCGGGC	0.532																																						ENST00000545054.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(616-618)Cga>Tga		phosphoenolpyruvate carboxykinase 2 (mitochondrial)		C	stop/ARG,stop/ARG	0,4406		0,0,2203	110.0	121.0	117.0		1018,1018	4.6	1.0	14		117	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained,stop-gained	PCK2	NM_001018073.1,NM_004563.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	340/442,340/641	24569206	2,13004	2203	4300	6503	SO:0001587	stop_gained	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24569206C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1018C>T	14.37:g.24569206C>T	ENSP00000216780:p.Arg340*					PCK2_ENST00000216780.4_Nonsense_Mutation_p.R340*|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R340*|PCK2_ENST00000561286.1_Nonsense_Mutation_p.R206*|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Nonsense_Mutation_p.R206*|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R352*	p.R206*			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	7	1534	+			340					O43253|Q86U01|Q9BV62	Nonsense_Mutation	SNP	ENST00000216780.4	37	c.616C>T	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	39	7.733063	0.98459	0.0	2.33E-4	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	.	.	.	5.49	4.59	0.56863	.	0.363504	0.31358	N	0.007795	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2575	13.3242	0.60450	0.1594:0.8406:0.0:0.0	.	.	.	.	X	340;340;206	.	ENSP00000216780:R340X	R	+	1	2	PCK2	23639046	0.011000	0.17503	1.000000	0.80357	0.977000	0.68977	2.053000	0.41326	1.291000	0.44653	0.655000	0.94253	CGA		0.532	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		41	118	0	0	0	1	0	41	118				
OR56A4	120793	broad.mit.edu	37	11	6023761	6023761	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:6023761C>T	ENST00000330728.4	-	1	663	c.618G>A	c.(616-618)cgG>cgA	p.R206R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGGCATTCCGGGCTATAA	0.488																																						ENST00000330728.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(616-618)cgG>cgA		olfactory receptor, family 56, subfamily A, member 4							58.0	52.0	54.0					11																	6023761		2201	4296	6497	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023761C>T	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.618G>A	11.37:g.6023761C>T							p.R206R	NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	663	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	154					B9EH17	Silent	SNP	ENST00000330728.4	37	c.618G>A	CCDS31404.1																																																																																				0.488	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		19	16	0	0	0	1	0	19	16				
TAAR9	134860	broad.mit.edu	37	6	132859895	132859895	+	RNA	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:132859895C>T	ENST00000434551.1	+	0	467					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ATTGTTCTTTCCTGGTTCTTT	0.413																																					Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							124.0	117.0	119.0					6																	132859895		1904	4127	6031			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859895C>T	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859895C>T								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	467	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.413	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		14	47	0	0	0	1	0	14	47				
NME2	4831	broad.mit.edu	37	17	49247332	49247332	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:49247332G>A	ENST00000393193.2	+	7	685	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	NME2_ENST00000376392.6_Intron|NME1-NME2_ENST00000503064.1_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000393183.3_Missense_Mutation_p.R13Q|NME2_ENST00000555572.1_Missense_Mutation_p.R228Q|NME1-NME2_ENST00000512737.1_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000608447.1_Missense_Mutation_p.R228Q|NME1-NME2_ENST00000393198.3_Missense_Mutation_p.R203Q|NME1-NME2_ENST00000393190.1_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000393185.1_Missense_Mutation_p.R13Q|NME1-NME2_ENST00000513177.1_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000514264.2_Missense_Mutation_p.R88Q			P22392	NDKB_HUMAN	NME/NM23 nucleoside diphosphate kinase 2	88					cell adhesion (GO:0007155)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of apoptotic process (GO:0043066)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside triphosphate biosynthetic process (GO:0009142)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|UTP biosynthetic process (GO:0006228)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)|protein histidine kinase activity (GO:0004673)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	AAGACAGGCCGAGTGATGCTT	0.527																																					Esophageal Squamous(49;809 1203 4404 15246)	ENST00000555572.1																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(682-684)cGa>cAa		NME/NM23 nucleoside diphosphate kinase 2							121.0	108.0	113.0					17																	49247332		2203	4300	6503	SO:0001583	missense	4831							g.chr17:49247332G>A	X58965	CCDS11580.1, CCDS74107.1	17q21.33	2013-04-29	2012-05-18		ENSG00000011052	ENSG00000011052			7850	protein-coding gene	gene with protein product		156491	"""non-metastatic cells 2, protein (NM23B) expressed in"""			1988104, 19852809	Standard	NM_001018137		Approved	NM23-H2, NDPKB		P22392	OTTHUMG00000154062	ENST00000393193.2:c.608G>A	17.37:g.49247332G>A	ENSP00000376889:p.Arg203Gln					NME1-NME2_ENST00000503064.1_Missense_Mutation_p.R88Q|NME2_ENST00000393183.3_Missense_Mutation_p.R13Q|NME2_ENST00000393198.2_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000514264.2_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000512737.1_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000513177.1_Missense_Mutation_p.R88Q|NME2_ENST00000393185.1_Missense_Mutation_p.R13Q|NME2_ENST00000376392.6_Intron|NME1-NME2_ENST00000393190.1_Missense_Mutation_p.R88Q|NME2_ENST00000393193.2_Missense_Mutation_p.R203Q	p.R228Q					BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		8	859	+								A8MWA3|Q1WM23|Q6LCT6	Missense_Mutation	SNP	ENST00000393193.2	37	c.683G>A	CCDS32682.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380820	0.82792	.	.	ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000243678;ENSG00000243678	ENST00000376392;ENST00000555572;ENST00000514264;ENST00000393185;ENST00000513177;ENST00000512737;ENST00000503064;ENST00000393183;ENST00000393190;ENST00000393193;ENST00000393198	T;T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	4.92	4.92	0.64577	.	0.000000	0.64402	U	0.000011	D	0.90625	0.7060	H	0.99996	5.45	0.58432	D	0.999997	P;D	0.71674	0.862;0.998	B;D	0.68483	0.357;0.958	D	0.95625	0.8684	10	0.66056	D	0.02	-5.1103	18.1167	0.89558	0.0:0.0:1.0:0.0	.	88;228	P22392;Q32Q12	NDKB_HUMAN;.	Q	203;228;88;13;88;88;88;13;88;203;228	ENSP00000451932:R228Q;ENSP00000426976:R88Q;ENSP00000376882:R13Q;ENSP00000425581:R88Q;ENSP00000421064:R88Q;ENSP00000426901:R88Q;ENSP00000376880:R13Q;ENSP00000376886:R88Q;ENSP00000376889:R203Q	ENSP00000365572:R88Q	R	+	2	0	NME2;NME1-NME2	46602331	1.000000	0.71417	0.506000	0.27664	0.870000	0.49936	9.419000	0.97397	2.439000	0.82584	0.591000	0.81541	CGA		0.527	NME2-001	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000268664.2	NM_002512		21	45	0	0	0	1	0	21	45				
NUTM1	256646	broad.mit.edu	37	15	34648090	34648090	+	Silent	SNP	C	C	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:34648090C>A	ENST00000333756.4	+	7	1952	c.1797C>A	c.(1795-1797)ggC>ggA	p.G599G	NUTM1_ENST00000537011.1_Silent_p.G627G|NUTM1_ENST00000438749.3_Silent_p.G617G	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	599						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATCAGGATGGCCATCTAGGAG	0.592																																						ENST00000537011.1																			0											c.(1879-1881)ggC>ggA		NUT midline carcinoma, family member 1							23.0	24.0	23.0					15																	34648090		2184	4274	6458	SO:0001819	synonymous_variant	256646							g.chr15:34648090C>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1797C>A	15.37:g.34648090C>A						NUTM1_ENST00000333756.4_Silent_p.G599G|NUTM1_ENST00000438749.3_Silent_p.G617G	p.G627G							8	2263	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.1881C>A	CCDS32190.1																																																																																				0.592	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		10	26	1	0	2.17888e-05	1	2.25869e-05	10	26				
BCKDHB	594	broad.mit.edu	37	6	80912822	80912822	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:80912822C>G	ENST00000320393.6	+	8	891	c.844C>G	c.(844-846)Cat>Gat	p.H282D	BCKDHB_ENST00000356489.5_Missense_Mutation_p.H282D|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	282					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATTTCAGGTTCATGTGATCCG	0.378																																						ENST00000320393.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(844-846)Cat>Gat		branched chain keto acid dehydrogenase E1, beta polypeptide							123.0	118.0	120.0					6																	80912822		2203	4300	6503	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80912822C>G	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.844C>G	6.37:g.80912822C>G	ENSP00000318351:p.His282Asp					BCKDHB_ENST00000356489.5_Missense_Mutation_p.H282D|BCKDHB_ENST00000545529.1_3'UTR	p.H282D	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	8	891	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	282					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.844C>G	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193060	0.58017	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.90900	-2.75;-2.75	5.92	5.92	0.95590	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95918	0.8671	M	0.88241	2.94	0.80722	D	1	P	0.49253	0.921	D	0.72625	0.978	D	0.95845	0.8869	10	0.72032	D	0.01	-23.8689	17.8152	0.88630	0.0:1.0:0.0:0.0	.	282	P21953	ODBB_HUMAN	D	282;282;212	ENSP00000318351:H282D;ENSP00000348880:H282D	ENSP00000318351:H282D	H	+	1	0	BCKDHB	80969541	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	7.126000	0.77201	2.804000	0.96469	0.655000	0.94253	CAT		0.378	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		17	29	0	0	0	1	0	17	29				
PCDHA12	56137	broad.mit.edu	37	5	140256212	140256212	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140256212C>G	ENST00000398631.2	+	1	1155	c.1155C>G	c.(1153-1155)gtC>gtG	p.V385V	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	385	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGACAGGTCATCTGCTCAC	0.552																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1153-1155)gtC>gtG									145.0	140.0	142.0					5																	140256212		2203	4300	6503	SO:0001819	synonymous_variant	56137							g.chr5:140256212C>G	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1155C>G	5.37:g.140256212C>G						PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.V385V	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1155	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1155C>G	CCDS47285.1																																																																																				0.552	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		41	94	0	0	0	1	0	41	94				
BARD1	580	broad.mit.edu	37	2	215646136	215646136	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:215646136G>A	ENST00000260947.4	-	4	596	c.462C>T	c.(460-462)gtC>gtT	p.V154V	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Silent_p.V10V	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	154					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAACATATCTGACTTTCTTAC	0.368									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(460-462)gtC>gtT		BRCA1 associated RING domain 1							102.0	103.0	102.0					2																	215646136		2203	4300	6503	SO:0001819	synonymous_variant	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215646136G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.462C>T	2.37:g.215646136G>A						BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Silent_p.V10V	p.V154V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	596	-		Renal(323;0.0243)	154					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Silent	SNP	ENST00000260947.4	37	c.462C>T	CCDS2397.1																																																																																				0.368	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		11	41	0	0	0	1	0	11	41				
GLDC	2731	broad.mit.edu	37	9	6592181	6592181	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:6592181C>A	ENST00000321612.6	-	11	1594	c.1444G>T	c.(1444-1446)Gac>Tac	p.D482Y		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	482					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AACAAATCGTCCAGATCTTTT	0.373																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1444-1446)Gac>Tac		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						100.0	92.0	94.0					9																	6592181		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6592181C>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1444G>T	9.37:g.6592181C>A	ENSP00000370737:p.Asp482Tyr						p.D482Y	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	11	1594	-		Acute lymphoblastic leukemia(23;0.161)	482					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1444G>T	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185241	0.78677	.	.	ENSG00000178445	ENST00000321612	D	0.97209	-4.29	5.14	5.14	0.70334	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.102454	0.64402	D	0.000003	D	0.98482	0.9494	M	0.86097	2.795	0.80722	D	1	D	0.61697	0.99	D	0.67103	0.949	D	0.99461	1.0943	10	0.66056	D	0.02	-19.7105	18.6392	0.91389	0.0:1.0:0.0:0.0	.	482	P23378	GCSP_HUMAN	Y	482	ENSP00000370737:D482Y	ENSP00000370737:D482Y	D	-	1	0	GLDC	6582181	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.892000	0.75644	2.385000	0.81259	0.561000	0.74099	GAC		0.373	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		15	44	1	0	5.01169e-05	1	5.17631e-05	15	44				
AHNAK	79026	broad.mit.edu	37	11	62291338	62291338	+	Silent	SNP	G	G	A	rs201491068		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:62291338G>A	ENST00000378024.4	-	5	10825	c.10551C>T	c.(10549-10551)ctC>ctT	p.L3517L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3517					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCCACATTGAGATCTGGGC	0.473																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10549-10551)ctC>ctT		AHNAK nucleoprotein		G	,	0,4404		0,0,2202	102.0	107.0	105.0		10551,	-3.7	0.0	11		105	2,8596		0,2,4297	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,	3517/5891,	62291338	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62291338G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10551C>T	11.37:g.62291338G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.L3517L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10825	-		Melanoma(852;0.155)	3517					A1A586	Silent	SNP	ENST00000378024.4	37	c.10551C>T	CCDS31584.1																																																																																				0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		31	107	0	0	0	1	0	31	107				
IL13RA2	3598	broad.mit.edu	37	X	114239876	114239876	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:114239876C>T	ENST00000371936.1	-	10	1249	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	IL13RA2_ENST00000243213.1_Missense_Mutation_p.E334K			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	334					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GATAGGTCTTCACCTAGGATT	0.348																																						ENST00000371936.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						c.(1000-1002)Gaa>Aaa		interleukin 13 receptor, alpha 2							62.0	60.0	60.0					X																	114239876		2203	4300	6503	SO:0001583	missense	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114239876C>T	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.1000G>A	X.37:g.114239876C>T	ENSP00000361004:p.Glu334Lys					IL13RA2_ENST00000243213.1_Missense_Mutation_p.E334K	p.E334K			Q14627	I13R2_HUMAN			10	1249	-			334			Fibronectin type-III 3.		A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	c.1000G>A	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.642352	0.00799	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.90444	-2.67;-2.67	3.64	1.79	0.24919	.	1.467820	0.03776	N	0.260565	T	0.77343	0.4116	N	0.08118	0	0.09310	N	1	B	0.30482	0.281	B	0.24541	0.054	T	0.68887	-0.5290	10	0.13108	T	0.6	.	3.4459	0.07481	0.2618:0.5985:0.0:0.1397	.	334	Q14627	I13R2_HUMAN	K	334	ENSP00000361004:E334K;ENSP00000243213:E334K	ENSP00000243213:E334K	E	-	1	0	IL13RA2	114146132	0.280000	0.24249	0.110000	0.21437	0.022000	0.10575	0.235000	0.17948	0.339000	0.23719	0.513000	0.50165	GAA		0.348	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		15	44	0	0	0	1	0	15	44				
LRRC7	57554	broad.mit.edu	37	1	70503966	70503966	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:70503966A>C	ENST00000035383.5	+	19	2375	c.2345A>C	c.(2344-2346)gAg>gCg	p.E782A	LRRC7_ENST00000415775.2_Missense_Mutation_p.E66A|LRRC7_ENST00000310961.5_Missense_Mutation_p.E787A	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	782						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTTGTTGCTGAGGAAACCACA	0.498																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2359-2361)gAg>gCg		leucine rich repeat containing 7							148.0	131.0	137.0					1																	70503966		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70503966A>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2345A>C	1.37:g.70503966A>C	ENSP00000035383:p.Glu782Ala					LRRC7_ENST00000415775.2_Missense_Mutation_p.E66A|LRRC7_ENST00000035383.5_Missense_Mutation_p.E782A	p.E787A			Q96NW7	LRRC7_HUMAN			22	2778	+			782					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2360A>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545383	0.45280	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.50548	0.74;0.82;1.91	5.68	5.68	0.88126	.	0.182218	0.47093	D	0.000253	T	0.50034	0.1592	L	0.50333	1.59	0.58432	D	0.999997	D;D;D	0.71674	0.998;0.986;0.976	D;P;P	0.66196	0.942;0.737;0.551	T	0.43491	-0.9388	10	0.25751	T	0.34	.	15.1126	0.72372	1.0:0.0:0.0:0.0	.	66;782;782	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	A	787;782;66;605	ENSP00000309245:E787A;ENSP00000035383:E782A;ENSP00000394867:E66A	ENSP00000035383:E782A	E	+	2	0	LRRC7	70276554	1.000000	0.71417	0.989000	0.46669	0.179000	0.23085	8.896000	0.92521	2.176000	0.68965	0.383000	0.25322	GAG		0.498	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		49	120	0	0	0	1	0	49	120				
EWSR1	2130	broad.mit.edu	37	22	29682945	29682945	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:29682945G>A	ENST00000397938.2	+	7	934	c.615G>A	c.(613-615)caG>caA	p.Q205Q	EWSR1_ENST00000414183.2_Silent_p.Q211Q|EWSR1_ENST00000332035.6_Silent_p.Q149Q|EWSR1_ENST00000406548.1_Silent_p.Q205Q|EWSR1_ENST00000332050.6_Silent_p.Q205Q|EWSR1_ENST00000331029.7_Silent_p.Q205Q|EWSR1_ENST00000333395.6_Silent_p.Q205Q	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	205	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTTATGATCAGAGCAGTTACT	0.443			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(613-615)caG>caA		EWS RNA-binding protein 1							91.0	88.0	89.0					22																	29682945		2203	4300	6503	SO:0001819	synonymous_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29682945G>A		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.615G>A	22.37:g.29682945G>A						EWSR1_ENST00000332050.6_Silent_p.Q205Q|EWSR1_ENST00000406548.1_Silent_p.Q205Q|EWSR1_ENST00000414183.2_Silent_p.Q211Q|EWSR1_ENST00000331029.7_Silent_p.Q205Q|EWSR1_ENST00000333395.6_Silent_p.Q205Q|EWSR1_ENST00000332035.6_Silent_p.Q149Q	p.Q205Q	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			7	934	+			205			31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Silent	SNP	ENST00000397938.2	37	c.615G>A	CCDS13851.1																																																																																				0.443	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		23	53	0	0	0	1	0	23	53				
FANCD2OS	115795	broad.mit.edu	37	3	10146360	10146360	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:10146360G>C	ENST00000450660.2	-	2	315	c.99C>G	c.(97-99)ttC>ttG	p.F33L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.F33L	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	33																	GGGAGGCCTTGAATGGGTGCT	0.562																																						ENST00000450660.2																			0											c.(97-99)ttC>ttG		FANCD2 opposite strand							211.0	214.0	213.0					3																	10146360		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146360G>C	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.99C>G	3.37:g.10146360G>C	ENSP00000429608:p.Phe33Leu					FANCD2OS_ENST00000524279.1_Missense_Mutation_p.F33L	p.F33L	NM_001164839.1	NP_001158311.1					2	315	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.99C>G	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965397	0.53507	.	.	ENSG00000163705	ENST00000524279;ENST00000453223;ENST00000450660	.	.	.	5.62	-1.32	0.09201	.	0.074405	0.56097	D	0.000028	T	0.24044	0.0582	L	0.27053	0.805	0.37536	D	0.9181	P	0.39737	0.685	B	0.27500	0.08	T	0.07947	-1.0746	9	0.33940	T	0.23	.	9.6188	0.39708	0.6141:0.0:0.3859:0.0	.	33	Q96PS1	CC024_HUMAN	L	33;31;33	.	ENSP00000429608:F33L	F	-	3	2	C3orf24	10121360	0.486000	0.25980	0.988000	0.46212	0.924000	0.55760	-0.592000	0.05747	-0.380000	0.07894	-0.458000	0.05436	TTC		0.562	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		15	73	0	0	0	1	0	15	73				
PRX	57716	broad.mit.edu	37	19	40900809	40900809	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:40900809G>A	ENST00000324001.7	-	7	3720	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1150	Glu-rich (acidic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGCAGGGAGATGCCCAGCG	0.652																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(3448-3450)atC>atT		periaxin							54.0	47.0	49.0					19																	40900809		2203	4300	6503	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900809G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3450C>T	19.37:g.40900809G>A						PRX_ENST00000291825.7_3'UTR	p.I1150I	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3720	-			1150			Glu-rich (acidic).		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.3450C>T	CCDS33028.1																																																																																				0.652	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		4	68	0	0	0	1	0	4	68				
SLC44A4	80736	broad.mit.edu	37	6	31833291	31833291	+	Missense_Mutation	SNP	C	C	T	rs368786095		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:31833291C>T	ENST00000229729.6	-	16	1690	c.1670G>A	c.(1669-1671)cGc>cAc	p.R557H	SLC44A4_ENST00000544672.1_Missense_Mutation_p.R481H|NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000375562.4_Missense_Mutation_p.R515H	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	557					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GTATGCATTGCGGTTTAGGAA	0.527																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1441-1443)cGc>cAc		solute carrier family 44, member 4	Choline(DB00122)						99.0	96.0	97.0					6																	31833291		1511	2709	4220	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31833291C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1670G>A	6.37:g.31833291C>T	ENSP00000229729:p.Arg557His					SLC44A4_ENST00000375562.4_Missense_Mutation_p.R515H|SLC44A4_ENST00000229729.6_Missense_Mutation_p.R557H	p.R481H	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			16	1738	-			557					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.1442G>A	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653289	0.88056	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.27402	1.67;1.67;1.67	5.24	4.37	0.52481	.	0.110115	0.64402	D	0.000013	T	0.33294	0.0858	L	0.55743	1.74	0.58432	D	0.999994	P	0.49090	0.919	P	0.57371	0.819	T	0.12993	-1.0526	10	0.59425	D	0.04	-17.7275	12.6187	0.56592	0.0:0.9193:0.0:0.0807	.	557	Q53GD3	CTL4_HUMAN	H	557;515;481	ENSP00000229729:R557H;ENSP00000364712:R515H;ENSP00000444109:R481H	ENSP00000229729:R557H	R	-	2	0	SLC44A4	31941270	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.790000	0.69038	1.450000	0.47717	0.655000	0.94253	CGC		0.527	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			24	64	0	0	0	1	0	24	64				
SCN1A	6323	broad.mit.edu	37	2	166897882	166897882	+	Silent	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:166897882T>C	ENST00000303395.4	-	13	2273	c.2274A>G	c.(2272-2274)aaA>aaG	p.K758K	SCN1A_ENST00000423058.2_Silent_p.K758K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.K730K|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.K747K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	758					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGACAACATGTTTCACTTTTA	0.403																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(2272-2274)aaA>aaG		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						109.0	108.0	108.0					2																	166897882		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166897882T>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2274A>G	2.37:g.166897882T>C						SCN1A_ENST00000375405.3_Silent_p.K747K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.K730K|SCN1A_ENST00000303395.4_Silent_p.K758K|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	p.K758K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			13	2291	-			758					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.2274A>G	CCDS54413.1																																																																																				0.403	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		26	53	0	0	0	1	0	26	53				
ATP2B3	492	broad.mit.edu	37	X	152845573	152845573	+	Silent	SNP	C	C	T	rs200202600		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:152845573C>T	ENST00000349466.2	+	21	3806	c.3480C>T	c.(3478-3480)gaC>gaT	p.D1160D	ATP2B3_ENST00000263519.4_Silent_p.D1160D|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000359149.3_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1160					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)					CGCTCATTGACGACACGGACG	0.587													C|||	4	0.0010596	0.0008	0.0029	3775	,	,		11332	0.0		0.0	False		,,,				2504	0.001					ENST00000263519.4																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(3478-3480)gaC>gaT		ATPase, Ca++ transporting, plasma membrane 3							157.0	139.0	145.0					X																	152845573		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152845573C>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.3480C>T	X.37:g.152845573C>T						ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000349466.2_Silent_p.D1160D	p.D1160D	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN			20	3606	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1160					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.3480C>T	CCDS35440.1																																																																																				0.587	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		74	168	0	0	0	1	0	74	168				
HSD17B7P2	158160	broad.mit.edu	37	10	38652509	38652509	+	RNA	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:38652509G>C	ENST00000494540.1	+	0	499					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		GGAGGTGTTTGAGACCGATGT	0.458																																						ENST00000494540.1																			0																																																			158160							g.chr10:38652509G>C			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38652509G>C								NR_003086.1						0	499	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.458	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		9	36	0	0	0	1	0	9	36				
LRRTM3	347731	broad.mit.edu	37	10	68857396	68857396	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:68857396A>G	ENST00000361320.4	+	3	2166	c.1588A>G	c.(1588-1590)Ata>Gta	p.I530V	LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	530					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCAGCCCACAATAAGTTACTG	0.413																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(1588-1590)Ata>Gta		leucine rich repeat transmembrane neuronal 3							154.0	139.0	144.0					10																	68857396		2203	4299	6502	SO:0001583	missense	347731					integral to membrane		g.chr10:68857396A>G	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1588A>G	10.37:g.68857396A>G	ENSP00000355187:p.Ile530Val					CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000373744.4_Intron	p.I530V	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			3	2166	+			530					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1588A>G	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	A	8.872	0.949468	0.18356	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.74632	-0.86	5.92	4.79	0.61399	.	0.000000	0.53938	D	0.000041	T	0.55465	0.1922	N	0.19112	0.55	0.29926	N	0.822348	B	0.11235	0.004	B	0.06405	0.002	T	0.46359	-0.9197	10	0.11485	T	0.65	.	9.7666	0.40565	0.9213:0.0:0.0787:0.0	.	530	Q86VH5	LRRT3_HUMAN	V	530	ENSP00000355187:I530V	ENSP00000355187:I530V	I	+	1	0	LRRTM3	68527402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.789000	0.47813	1.076000	0.40961	0.528000	0.53228	ATA		0.413	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		36	64	0	0	0	1	0	36	64				
ATMIN	23300	broad.mit.edu	37	16	81075963	81075963	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:81075963G>A	ENST00000299575.4	+	3	564	c.540G>A	c.(538-540)ctG>ctA	p.L180L	ATMIN_ENST00000566488.1_Silent_p.L24L|ATMIN_ENST00000564241.1_Silent_p.L24L|ATMIN_ENST00000539819.1_Intron	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	180					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGGGACCTGAAAAGACATG	0.507																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(70-72)ctG>ctA		ATM interactor							137.0	109.0	118.0					16																	81075963		2202	4300	6502	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81075963G>A	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.540G>A	16.37:g.81075963G>A						ATMIN_ENST00000299575.4_Silent_p.L180L|ATMIN_ENST00000564241.1_Silent_p.L24L|ATMIN_ENST00000539819.1_Intron	p.L24L			O43313	ATMIN_HUMAN			2	1035	+			180			Ala-rich.		A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.72G>A	CCDS32494.1																																																																																				0.507	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		27	62	0	0	0	1	0	27	62				
CASP8	841	broad.mit.edu	37	2	202149973	202149973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:202149973C>T	ENST00000432109.2	+	9	1426	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R472*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	413					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGTTTCCTACCGAAACCCTGC	0.488										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1414-1416)Cga>Tga		caspase 8, apoptosis-related cysteine peptidase							75.0	68.0	71.0					2																	202149973		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149973C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1237C>T	2.37:g.202149973C>T	ENSP00000412523:p.Arg413*	HNSCC(4;0.00038)				CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R413*	p.R472*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1610	+			413					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1414C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503402	0.85176	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2071	0.65741	0.1588:0.8412:0.0:0.0	.	.	.	.	X	398;329;413;430;472;398;192	.	ENSP00000264274:R329X	R	+	1	2	CASP8	201858218	0.992000	0.36948	0.993000	0.49108	0.271000	0.26615	2.379000	0.44318	2.655000	0.90218	0.561000	0.74099	CGA		0.488	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		22	61	0	0	0	1	0	22	61				
UPK3B	80761	broad.mit.edu	37	7	76142444	76142444	+	Intron	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:76142444G>A	ENST00000257632.5	+	3	754				UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000448265.3_Intron|UPK3B_ENST00000334348.3_Missense_Mutation_p.E169K|UPK3B_ENST00000443097.2_Missense_Mutation_p.E169K			Q9BT76	UPK3B_HUMAN	uroplakin 3B						negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				ACCCAGGGCTGAGACCAAGTG	0.657																																						ENST00000443097.2																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8						c.(505-507)Gag>Aag		uroplakin 3B							61.0	44.0	49.0					7																	76142444		2203	4300	6503	SO:0001627	intron_variant	80761				negative regulation of gene expression	integral to membrane|plasma membrane		g.chr7:76142444G>A	BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.627-820G>A	7.37:g.76142444G>A						UPK3B_ENST00000334348.3_Missense_Mutation_p.E169K|UPK3B_ENST00000257632.5_Intron|UPK3B_ENST00000448265.3_Intron|UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000419923.2_Intron	p.E169K			Q9BT76	UPK3B_HUMAN			4	730	+		Myeloproliferative disorder(862;0.204)	0					A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	37	c.505G>A	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	15.22	2.769531	0.49680	.	.	ENSG00000243566	ENST00000334348;ENST00000443097	T;T	0.57595	0.39;0.39	5.21	2.36	0.29203	.	.	.	.	.	T	0.70228	0.3200	M	0.76574	2.34	0.24227	N	0.995411	D	0.76494	0.999	D	0.68765	0.96	T	0.63033	-0.6727	9	0.52906	T	0.07	.	14.1592	0.65436	0.0:0.4336:0.5664:0.0	.	169	A6NHH5	.	K	169	ENSP00000334938:E169K;ENSP00000444585:E169K	ENSP00000334938:E169K	E	+	1	0	UPK3B	75980380	0.990000	0.36364	0.925000	0.36789	0.122000	0.20287	2.246000	0.43142	0.190000	0.20209	-0.300000	0.09419	GAG		0.657	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		5	20	0	0	0	1	0	5	20				
SLC2A13	114134	broad.mit.edu	37	12	40441950	40441950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:40441950G>A	ENST00000280871.4	-	2	669	c.619C>T	c.(619-621)Cga>Tga	p.R207*	SLC2A13_ENST00000380858.1_Nonsense_Mutation_p.R207*	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	207					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GTGACTAATCGGCCTCTTAAA	0.428										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(619-621)Cga>Tga		solute carrier family 2 (facilitated glucose transporter), member 13							171.0	162.0	165.0					12																	40441950		2203	4300	6503	SO:0001587	stop_gained	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40441950G>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.619C>T	12.37:g.40441950G>A	ENSP00000280871:p.Arg207*	HNSCC(50;0.14)				SLC2A13_ENST00000380858.1_Nonsense_Mutation_p.R207*	p.R207*	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			2	669	-		Lung NSC(34;0.105)|all_lung(34;0.123)	207					Q17S07	Nonsense_Mutation	SNP	ENST00000280871.4	37	c.619C>T	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	39	7.867636	0.98534	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	.	.	.	5.65	4.69	0.59074	.	0.110693	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-17.0111	11.3128	0.49375	0.0:0.0:0.4492:0.5508	.	.	.	.	X	207	.	ENSP00000280871:R207X	R	-	1	2	SLC2A13	38728217	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	5.473000	0.66774	1.333000	0.45449	0.655000	0.94253	CGA		0.428	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			25	76	0	0	0	1	0	25	76				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	28	0	0	0	1	0	3	28				
PRAM1	84106	broad.mit.edu	37	19	8563897	8563897	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:8563897G>A	ENST00000423345.4	-	2	1315	c.795C>T	c.(793-795)gaC>gaT	p.D265D	PRAM1_ENST00000255612.3_Silent_p.D265D			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	313	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGGCGCTGGAGTCGCGCTTCG	0.642																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(793-795)gaC>gaT		PML-RARA regulated adaptor molecule 1							36.0	41.0	39.0					19																	8563897		2181	4285	6466	SO:0001819	synonymous_variant	84106						lipid binding|protein binding	g.chr19:8563897G>A	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.795C>T	19.37:g.8563897G>A						PRAM1_ENST00000255612.3_Silent_p.D265D	p.D265D			Q96QH2	PRAM_HUMAN			2	1315	-			313			Pro-rich.		Q8N6W7	Silent	SNP	ENST00000423345.4	37	c.795C>T	CCDS45954.2																																																																																				0.642	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		26	24	0	0	0	1	0	26	24				
WFS1	7466	broad.mit.edu	37	4	6302808	6302808	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:6302808G>T	ENST00000226760.1	+	8	1456	c.1286G>T	c.(1285-1287)tGc>tTc	p.C429F	WFS1_ENST00000503569.1_Missense_Mutation_p.C429F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	429					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGCATCCCCTGCTCGGAGCTG	0.607																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1285-1287)tGc>tTc		Wolfram syndrome 1 (wolframin)							142.0	141.0	141.0					4																	6302808		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302808G>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1286G>T	4.37:g.6302808G>T	ENSP00000226760:p.Cys429Phe					WFS1_ENST00000503569.1_Missense_Mutation_p.C429F	p.C429F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1456	+			429					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1286G>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	13.04	2.118238	0.37339	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.91180	-2.8;-2.8	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	M	0.78637	2.42	0.58432	D	0.999997	D	0.69078	0.997	D	0.72075	0.976	D	0.94189	0.7439	10	0.36615	T	0.2	-48.9144	16.7024	0.85357	0.0:0.0:1.0:0.0	.	429	O76024	WFS1_HUMAN	F	429	ENSP00000423337:C429F;ENSP00000226760:C429F	ENSP00000226760:C429F	C	+	2	0	WFS1	6353709	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.237000	0.78164	2.181000	0.69327	0.556000	0.70494	TGC		0.607	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			45	100	1	0	3.77016e-25	1	4.08795e-25	45	100				
ATRX	546	broad.mit.edu	37	X	76938924	76938924	+	Silent	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:76938924A>T	ENST00000373344.5	-	9	2038	c.1824T>A	c.(1822-1824)gtT>gtA	p.V608V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.V570V	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	608					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TATCTTGTGGAACTTCCTGAC	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1822-1824)gtT>gtA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						196.0	221.0	213.0					X																	76938924		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938924A>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1824T>A	X.37:g.76938924A>T						ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.V570V	p.V608V	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2038	-			608					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.1824T>A	CCDS14434.1																																																																																				0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		92	178	0	0	0	1	0	92	178				
DVL3	1857	broad.mit.edu	37	3	183888241	183888241	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:183888241C>T	ENST00000313143.3	+	15	2097	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	DVL3_ENST00000431765.1_Missense_Mutation_p.R600W|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	617					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCGGGGGCCGCGGGAGCGGGC	0.726																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1849-1851)Cgg>Tgg		dishevelled segment polarity protein 3							8.0	14.0	12.0					3																	183888241		2028	3966	5994	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183888241C>T	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1849C>T	3.37:g.183888241C>T	ENSP00000316054:p.Arg617Trp					EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.R600W	p.R617W	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		15	2097	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		617					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1849C>T	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318217	0.40996	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.03920	3.77;3.76	4.02	3.14	0.36123	Dishevelled C-terminal (1);	0.000000	0.64402	D	0.000008	T	0.02807	0.0084	N	0.11427	0.14	0.53005	D	0.999963	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.06405	0.002;0.0;0.0;0.002	T	0.48269	-0.9050	10	0.48119	T	0.1	-10.6658	7.6857	0.28538	0.161:0.7522:0.0:0.0868	.	600;449;617;617	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	W	617;617;600	ENSP00000316054:R617W;ENSP00000405885:R600W	ENSP00000316054:R617W	R	+	1	2	DVL3	185370935	0.967000	0.33354	0.816000	0.32577	0.974000	0.67602	2.846000	0.48262	0.987000	0.38709	0.561000	0.74099	CGG		0.726	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		4	2	0	0	0	1	0	4	2				
SON	6651	broad.mit.edu	37	21	34932274	34932274	+	Intron	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr21:34932274G>A	ENST00000356577.4	+	6	7132				SON_ENST00000290239.6_Intron|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.G2250E	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein						cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCACTTTGTGGAACCAAGCCA	0.498																																						ENST00000300278.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(6748-6750)gGa>gAa		SON DNA binding protein							71.0	59.0	64.0					21																	34932274		2203	4300	6503	SO:0001627	intron_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34932274G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6657+193G>A	21.37:g.34932274G>A						AP000304.2_ENST00000439593.1_RNA|SON_ENST00000356577.4_Intron|SON_ENST00000290239.6_Intron|SON_ENST00000381692.2_Intron	p.G2250E	NM_032195.1	NP_115571.1	P18583	SON_HUMAN			7	6778	+			0					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.6749G>A	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350455	0.41599	.	.	ENSG00000159140	ENST00000300278	T	0.13420	2.59	5.58	5.58	0.84498	.	.	.	.	.	T	0.39572	0.1083	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.18209	-1.0344	8	0.87932	D	0	.	15.0702	0.72030	0.0:0.0:1.0:0.0	.	2250	P18583-3	.	E	2250	ENSP00000300278:G2250E	ENSP00000300278:G2250E	G	+	2	0	SON	33854144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.489000	0.60309	2.629000	0.89072	0.563000	0.77884	GGA		0.498	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		10	33	0	0	0	1	0	10	33				
MMP2	4313	broad.mit.edu	37	16	55519211	55519211	+	Splice_Site	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:55519211A>G	ENST00000219070.4	+	4	1039	c.530A>G	c.(529-531)gAg>gGg	p.E177G	MMP2_ENST00000570308.1_Splice_Site_p.E101G|MMP2_ENST00000543485.1_Splice_Site_p.E101G|MMP2_ENST00000437642.2_Splice_Site_p.E127G	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	177	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGTGTTTCAGAGCATGGCGAT	0.572																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.e4-1		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						154.0	129.0	137.0					16																	55519211		2198	4300	6498	SO:0001630	splice_region_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55519211A>G		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.530-1A>G	16.37:g.55519211A>G						MMP2_ENST00000570308.1_Splice_Site_p.E101_splice|MMP2_ENST00000543485.1_Splice_Site_p.E101_splice|MMP2_ENST00000437642.2_Splice_Site_p.E127_splice	p.E177_splice	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	4	1039	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	177			Collagenase-like 1.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Splice_Site	SNP	ENST00000219070.4	37	c.529_splice	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.771675	0.69992	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.23950	1.88;1.88;1.88	4.77	4.77	0.60923	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.049619	0.85682	D	0.000000	T	0.39572	0.1083	L	0.37466	1.105	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.79784	0.954;0.993	T	0.10359	-1.0633	9	.	.	.	.	14.2986	0.66331	1.0:0.0:0.0:0.0	.	127;177	E9PE45;P08253	.;MMP2_HUMAN	G	177;101;127	ENSP00000219070:E177G;ENSP00000444143:E101G;ENSP00000394237:E127G	.	E	+	2	0	MMP2	54076712	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	9.328000	0.96403	1.781000	0.52344	0.445000	0.29226	GAG		0.572	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3		Missense_Mutation	23	81	0	0	0	1	0	23	81				
DEAF1	10522	broad.mit.edu	37	11	691516	691516	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:691516G>C	ENST00000382409.3	-	2	856	c.372C>G	c.(370-372)atC>atG	p.I124M	DEAF1_ENST00000338675.6_Missense_Mutation_p.I124M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	124					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CATGTCCTGAGATGGATGCCG	0.647																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(370-372)atC>atG		DEAF1 transcription factor							88.0	74.0	79.0					11																	691516		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:691516G>C	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.372C>G	11.37:g.691516G>C	ENSP00000371846:p.Ile124Met					DEAF1_ENST00000338675.6_Missense_Mutation_p.I124M	p.I124M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	2	856	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	124					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.372C>G	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	9.528	1.110133	0.20714	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.66638	-0.22	3.55	2.59	0.31030	.	0.184083	0.34314	N	0.004072	T	0.49966	0.1588	N	0.24115	0.695	0.39871	D	0.973501	B	0.24092	0.097	B	0.23852	0.049	T	0.48340	-0.9044	10	0.49607	T	0.09	-21.2065	10.086	0.42419	0.0:0.0:0.7885:0.2115	.	124	O75398	DEAF1_HUMAN	M	124;124;110;47	ENSP00000371846:I124M	ENSP00000341902:I124M	I	-	3	3	DEAF1	681516	0.929000	0.31497	0.961000	0.40146	0.532000	0.34746	0.021000	0.13489	0.703000	0.31848	0.462000	0.41574	ATC		0.647	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		23	25	0	0	0	1	0	23	25				
ZSCAN22	342945	broad.mit.edu	37	19	58846419	58846419	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:58846419C>T	ENST00000329665.4	+	2	398	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	84	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GAGGCGCACTCCAAGGAGCAG	0.662																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(250-252)tCc>tTc		zinc finger and SCAN domain containing 22							37.0	39.0	38.0					19																	58846419		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58846419C>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.251C>T	19.37:g.58846419C>T	ENSP00000332433:p.Ser84Phe						p.S84F	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	2	398	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	84			SCAN box.		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.251C>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702616	0.48307	.	.	ENSG00000182318	ENST00000329665	T	0.09163	3.01	4.01	4.01	0.46588	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.35278	0.0926	H	0.94808	3.585	0.36627	D	0.876077	D	0.53462	0.96	P	0.54815	0.761	T	0.57785	-0.7751	9	0.87932	D	0	.	11.8321	0.52301	0.0:1.0:0.0:0.0	.	84	P10073	ZSC22_HUMAN	F	84	ENSP00000332433:S84F	ENSP00000332433:S84F	S	+	2	0	ZSCAN22	63538231	0.865000	0.29922	0.846000	0.33378	0.307000	0.27823	2.339000	0.43965	2.252000	0.74401	0.591000	0.81541	TCC		0.662	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		19	34	0	0	0	1	0	19	34				
TPTE2	93492	broad.mit.edu	37	13	20024301	20024301	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:20024301C>T	ENST00000400230.2	-	13	932	c.888G>A	c.(886-888)gaG>gaA	p.E296E	TPTE2_ENST00000382978.1_Silent_p.E256E|TPTE2_ENST00000382975.4_Silent_p.E256E|TPTE2_ENST00000255310.6_Silent_p.E219E|TPTE2_ENST00000400103.2_Silent_p.E185E|TPTE2_ENST00000457266.2_Silent_p.E185E|TPTE2_ENST00000382977.4_Silent_p.E296E|TPTE2_ENST00000390680.2_Silent_p.E219E			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	296	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAACCACCATCTCACTGATTT	0.328																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(886-888)gaG>gaA		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							39.0	41.0	41.0					13																	20024301		2185	4271	6456	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20024301C>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.888G>A	13.37:g.20024301C>T						TPTE2_ENST00000457266.2_Silent_p.E185E|TPTE2_ENST00000390680.2_Silent_p.E219E|TPTE2_ENST00000400103.2_Silent_p.E185E|TPTE2_ENST00000382978.1_Silent_p.E256E|TPTE2_ENST00000382977.4_Silent_p.E296E|TPTE2_ENST00000382975.4_Silent_p.E256E|TPTE2_ENST00000255310.6_Silent_p.E219E	p.E296E			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	13	932	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	296			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.888G>A	CCDS45014.1																																																																																				0.328	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		9	33	0	0	0	1	0	9	33				
PAN2	9924	broad.mit.edu	37	12	56716930	56716930	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716930G>A	ENST00000425394.2	-	17	2797	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V	PAN2_ENST00000257931.5_Silent_p.V806V|PAN2_ENST00000440411.3_Silent_p.V803V|PAN2_ENST00000548043.1_Silent_p.V807V	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AAGGAAGCCAGACGTTCTTCA	0.473																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2419-2421)gtC>gtT		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							178.0	169.0	172.0					12																	56716930		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56716930G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2421C>T	12.37:g.56716930G>A						PAN2_ENST00000257931.5_Silent_p.V806V|PAN2_ENST00000548043.1_Silent_p.V807V|PAN2_ENST00000440411.3_Silent_p.V803V	p.V807V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			17	2797	-			807						Silent	SNP	ENST00000425394.2	37	c.2421C>T	CCDS44922.1																																																																																				0.473	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		22	94	0	0	0	1	0	22	94				
MACF1	23499	broad.mit.edu	37	1	39800393	39800393	+	Silent	SNP	A	A	G	rs552588079		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:39800393A>G	ENST00000372915.3	+	36	8235	c.8148A>G	c.(8146-8148)aaA>aaG	p.K2716K	MACF1_ENST00000564288.1_Silent_p.K2711K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Silent_p.K1151K|MACF1_ENST00000567887.1_Silent_p.K2748K|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2716					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAAGAGAAACTGGTGGATG	0.403																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8131-8133)aaA>aaG		microtubule-actin crosslinking factor 1							55.0	57.0	56.0					1																	39800393		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800393A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8148A>G	1.37:g.39800393A>G						MACF1_ENST00000289893.4_Silent_p.K1151K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Silent_p.K2716K|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.K2748K|MACF1_ENST00000539005.1_Intron	p.K2711K			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	8910	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2716					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.8133A>G																																																																																					0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		12	24	0	0	0	1	0	12	24				
MGAT5B	146664	broad.mit.edu	37	17	74921163	74921163	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:74921163T>G	ENST00000569840.2	+	9	1715	c.1141T>G	c.(1141-1143)Tcc>Gcc	p.S381A	MGAT5B_ENST00000301618.4_Missense_Mutation_p.S381A|MGAT5B_ENST00000428789.2_Missense_Mutation_p.S392A	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	381					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGGACTCTCCTTCAAGAA	0.662																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1141-1143)Tcc>Gcc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							83.0	74.0	77.0					17																	74921163		2203	4299	6502	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74921163T>G	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1141T>G	17.37:g.74921163T>G	ENSP00000456037:p.Ser381Ala					MGAT5B_ENST00000301618.4_Missense_Mutation_p.S381A|MGAT5B_ENST00000428789.2_Missense_Mutation_p.S392A	p.S381A	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			9	1715	+			381					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.1141T>G	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897575	0.72639	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.46063	0.88;0.88	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.47716	1.5	0.58432	D	0.999992	D;D	0.58620	0.983;0.983	P;P	0.60541	0.876;0.876	T	0.45673	-0.9245	10	0.28530	T	0.3	-53.8837	14.0415	0.64678	0.0:0.0:0.0:1.0	.	392;381	Q3V5L5-2;Q3V5L5-5	.;.	A	381;392	ENSP00000301618:S381A;ENSP00000391227:S392A	ENSP00000301618:S381A	S	+	1	0	MGAT5B	72432758	1.000000	0.71417	0.940000	0.37924	0.997000	0.91878	7.891000	0.87319	1.920000	0.55613	0.459000	0.35465	TCC		0.662	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		19	73	0	0	0	1	0	19	73				
AP4M1	9179	broad.mit.edu	37	7	99700568	99700568	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:99700568C>G	ENST00000359593.4	+	4	494	c.336C>G	c.(334-336)ctC>ctG	p.L112L	AP4M1_ENST00000478501.1_3'UTR|MCM7_ENST00000354230.3_5'Flank|AP4M1_ENST00000429084.1_Silent_p.L119L|MCM7_ENST00000303887.5_5'Flank|AP4M1_ENST00000421755.1_Silent_p.L112L|MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000422582.1_5'UTR	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	112					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TATACGAACTCCTGGATGAAG	0.552																																					Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(355-357)ctC>ctG		adaptor-related protein complex 4, mu 1 subunit							96.0	86.0	89.0					7																	99700568		2203	4300	6503	SO:0001819	synonymous_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99700568C>G	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.336C>G	7.37:g.99700568C>G						AP4M1_ENST00000422582.1_5'UTR|AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000359593.4_Silent_p.L112L|AP4M1_ENST00000421755.1_Silent_p.L112L	p.L119L			O00189	AP4M1_HUMAN			4	515	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		112					D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	c.357C>G	CCDS5685.1																																																																																				0.552	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		17	31	0	0	0	1	0	17	31				
CACNA1H	8912	broad.mit.edu	37	16	1261595	1261595	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:1261595A>C	ENST00000348261.5	+	23	4713	c.4465A>C	c.(4465-4467)Aac>Cac	p.N1489H	CACNA1H_ENST00000565831.1_Missense_Mutation_p.N1489H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.N1489H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1489					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CAACTTCGACAACCTGGGCCA	0.687																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4465-4467)Aac>Cac		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						20.0	23.0	22.0					16																	1261595		1918	4107	6025	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1261595A>C	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4465A>C	16.37:g.1261595A>C	ENSP00000334198:p.Asn1489His					CACNA1H_ENST00000358590.4_Missense_Mutation_p.N1489H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.N1489H	p.N1489H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			23	4713	+		Hepatocellular(780;0.00369)	1489					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4465A>C	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272736	0.80580	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97791	-4.54;-4.54	3.99	3.99	0.46301	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98311	0.9440	M	0.74467	2.265	0.45806	D	0.998682	D;D;D;P;D	0.89917	1.0;0.99;0.99;0.526;0.999	D;D;P;P;D	0.91635	0.999;0.979;0.896;0.472;0.997	D	0.98988	1.0807	10	0.87932	D	0	.	12.4821	0.55850	1.0:0.0:0.0:0.0	.	230;230;230;1489;1489	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	H	1489	ENSP00000334198:N1489H;ENSP00000351401:N1489H	ENSP00000334198:N1489H	N	+	1	0	CACNA1H	1201596	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.828000	0.92047	1.789000	0.52484	0.402000	0.26972	AAC		0.687	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		7	12	0	0	0	1	0	7	12				
TLR7	51284	broad.mit.edu	37	X	12903862	12903862	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:12903862G>C	ENST00000380659.3	+	3	374	c.235G>C	c.(235-237)Gac>Cac	p.D79H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	79					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CCACATACCAGACATCTCCCC	0.483																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(235-237)Gac>Cac		toll-like receptor 7	Imiquimod(DB00724)						152.0	140.0	144.0					X																	12903862		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12903862G>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.235G>C	X.37:g.12903862G>C	ENSP00000370034:p.Asp79His						p.D79H	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	374	+			79					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.235G>C	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.139056	0.01742	.	.	ENSG00000196664	ENST00000380659	T	0.43294	0.95	5.79	-0.973	0.10297	.	1.358100	0.04549	N	0.389609	T	0.14960	0.0361	N	0.02103	-0.685	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28459	-1.0043	10	0.02654	T	1	.	7.0242	0.24930	0.5114:0.3726:0.1161:0.0	.	79	Q9NYK1	TLR7_HUMAN	H	79	ENSP00000370034:D79H	ENSP00000370034:D79H	D	+	1	0	TLR7	12813783	0.000000	0.05858	0.000000	0.03702	0.938000	0.57974	0.111000	0.15458	0.057000	0.16193	-0.331000	0.08364	GAC		0.483	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		6	157	0	0	0	1	0	6	157				
ZNF425	155054	broad.mit.edu	37	7	148802073	148802073	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:148802073C>T	ENST00000378061.2	-	4	1022	c.890G>A	c.(889-891)cGc>cAc	p.R297H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	297					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCGCTCCCCGCGGTGTAGACA	0.662																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(889-891)cGc>cAc		zinc finger protein 425							43.0	41.0	42.0					7																	148802073		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802073C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.890G>A	7.37:g.148802073C>T	ENSP00000367300:p.Arg297His						p.R297H	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1022	-	Melanoma(164;0.15)		297					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.890G>A	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452452	0.43531	.	.	ENSG00000204947	ENST00000378061	T	0.16073	2.37	3.66	-5.77	0.02369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	N	0.05124	-0.11	0.09310	N	1	P	0.47604	0.898	B	0.42882	0.401	T	0.20505	-1.0273	9	0.87932	D	0	.	3.6194	0.08090	0.1302:0.5074:0.1317:0.2308	.	297	Q6IV72	ZN425_HUMAN	H	297	ENSP00000367300:R297H	ENSP00000367300:R297H	R	-	2	0	ZNF425	148433006	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-1.572000	0.02136	-1.348000	0.02205	-0.150000	0.13652	CGC		0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		9	31	0	0	0	1	0	9	31				
CCDC150	284992	broad.mit.edu	37	2	197565898	197565898	+	Silent	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:197565898A>G	ENST00000389175.4	+	15	1824	c.1689A>G	c.(1687-1689)aaA>aaG	p.K563K	CCDC150_ENST00000272831.7_Silent_p.K231K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	563										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAACGGAAAACTCCAGGTAT	0.328																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1687-1689)aaA>aaG		coiled-coil domain containing 150							55.0	48.0	50.0					2																	197565898		1796	4062	5858	SO:0001819	synonymous_variant	284992							g.chr2:197565898A>G		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1689A>G	2.37:g.197565898A>G						CCDC150_ENST00000272831.7_Silent_p.K231K	p.K563K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			15	1824	+			563					Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	c.1689A>G	CCDS46478.1																																																																																				0.328	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		3	7	0	0	0	1	0	3	7				
PCDHA5	56143	broad.mit.edu	37	5	140202489	140202489	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140202489G>T	ENST00000529859.1	+	1	1129	c.1129G>T	c.(1129-1131)Gac>Tac	p.D377Y	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D377Y|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.D377Y|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	377	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGACCGTGACTCAGGTGC	0.547																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1129-1131)Gac>Tac									116.0	104.0	108.0					5																	140202489		2203	4300	6503	SO:0001583	missense	56143							g.chr5:140202489G>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1129G>T	5.37:g.140202489G>T	ENSP00000436557:p.Asp377Tyr					PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D377Y|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.D377Y	p.D377Y	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1129	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1129G>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815653	0.50527	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.74737	-0.87;-0.87;-0.87	3.84	3.84	0.44239	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.91737	0.7387	H	0.98918	4.37	0.48395	D	0.99964	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95421	0.8507	9	0.87932	D	0	.	16.1154	0.81302	0.0:0.0:1.0:0.0	.	377;377;377	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	Y	377	ENSP00000433416:D377Y;ENSP00000436557:D377Y;ENSP00000367366:D377Y	ENSP00000367366:D377Y	D	+	1	0	PCDHA5	140182673	1.000000	0.71417	0.281000	0.24762	0.437000	0.31866	9.861000	0.99562	1.829000	0.53265	0.563000	0.77884	GAC		0.547	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		39	94	1	0	9.73076e-26	1	1.05916e-25	39	94				
COL28A1	340267	broad.mit.edu	37	7	7516796	7516796	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:7516796C>G	ENST00000399429.3	-	14	1320	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	394	Collagen-like 3.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTACTCCCTCAGGACCACGG	0.488																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(1180-1182)Gag>Cag		collagen, type XXVIII, alpha 1							56.0	56.0	56.0					7																	7516796		1839	4095	5934	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7516796C>G	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1180G>C	7.37:g.7516796C>G	ENSP00000382356:p.Glu394Gln						p.E394Q	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	14	1320	-		Ovarian(82;0.0789)	394			Collagen-like 3.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1180G>C	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597802	0.28445	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.90844	-2.74	4.73	3.82	0.43975	.	0.559119	0.15035	U	0.284203	D	0.82976	0.5154	N	0.11201	0.11	0.32215	N	0.575985	P;P	0.46142	0.873;0.799	P;B	0.50352	0.638;0.435	T	0.78523	-0.2171	10	0.05351	T	0.99	-13.8627	10.8488	0.46759	0.0:0.809:0.191:0.0	.	394;394	Q2UY09-2;Q2UY09	.;COSA1_HUMAN	Q	394	ENSP00000382356:E394Q	ENSP00000382347:E394Q	E	-	1	0	COL28A1	7483321	0.962000	0.33011	1.000000	0.80357	0.812000	0.45895	0.729000	0.26028	1.326000	0.45319	0.491000	0.48974	GAG		0.488	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		4	26	0	0	0	1	0	4	26				
MSL3	10943	broad.mit.edu	37	X	11786730	11786730	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:11786730C>T	ENST00000312196.4	+	10	1315	c.1210C>T	c.(1210-1212)Ctg>Ttg	p.L404L	MSL3_ENST00000380693.3_Silent_p.L238L|MSL3_ENST00000467141.1_3'UTR|MSL3_ENST00000361672.2_Silent_p.L255L|MSL3_ENST00000398527.2_Silent_p.L392L	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	404	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ACCTATTCCTCTGACTCCTAG	0.403																																						ENST00000380693.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(712-714)Ctg>Ttg		male-specific lethal 3 homolog (Drosophila)							140.0	121.0	127.0					X																	11786730		2203	4300	6503	SO:0001819	synonymous_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11786730C>T	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1210C>T	X.37:g.11786730C>T						MSL3_ENST00000312196.4_Silent_p.L404L|MSL3_ENST00000398527.2_Silent_p.L392L|MSL3_ENST00000467141.1_3'UTR|MSL3_ENST00000361672.2_Silent_p.L255L	p.L238L	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN			9	1349	+			404					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Silent	SNP	ENST00000312196.4	37	c.712C>T	CCDS14147.1																																																																																				0.403	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		18	46	0	0	0	1	0	18	46				
CLCN3	1182	broad.mit.edu	37	4	170641211	170641211	+	3'UTR	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:170641211C>T	ENST00000513761.1	+	0	3079				CLCN3_ENST00000504131.2_3'UTR|CLCN3_ENST00000347613.4_Missense_Mutation_p.L866F|CLCN3_ENST00000360642.3_3'UTR	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3						chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TAGCACAACTCTTTAACCTGA	0.383																																						ENST00000347613.4																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(2596-2598)Ctt>Ttt		chloride channel, voltage-sensitive 3							96.0	100.0	99.0					4																	170641211		2203	4300	6503	SO:0001624	3_prime_UTR_variant	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170641211C>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.*63C>T	4.37:g.170641211C>T						CLCN3_ENST00000513761.1_3'UTR|CLCN3_ENST00000504131.2_3'UTR|CLCN3_ENST00000360642.3_3'UTR	p.L866F	NM_173872.3	NP_776297.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	14	3150	+		Prostate(90;0.00601)|Renal(120;0.0183)	0					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.2596C>T	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724809	0.68959	.	.	ENSG00000109572	ENST00000347613	D	0.89875	-2.58	5.26	5.26	0.73747	.	0.856983	0.10129	N	0.712276	D	0.88559	0.6469	.	.	.	0.80722	D	1	P	0.46142	0.873	B	0.39706	0.307	D	0.88128	0.2836	9	0.87932	D	0	.	18.8442	0.92198	0.0:1.0:0.0:0.0	.	866	P51790-2	.	F	866	ENSP00000261514:L866F	ENSP00000261514:L866F	L	+	1	0	CLCN3	170877786	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.589000	0.61006	2.443000	0.82685	0.462000	0.41574	CTT		0.383	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			5	37	0	0	0	1	0	5	37				
CD40LG	959	broad.mit.edu	37	X	135741430	135741430	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:135741430C>T	ENST00000370629.2	+	5	698	c.642C>T	c.(640-642)tcC>tcT	p.S214S	CD40LG_ENST00000370628.2_Silent_p.S193S	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	214					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CCCACAGTTCCGCCAAACCTT	0.493									Immune Deficiency with Hyper-IgM																													ENST00000370629.2																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26						c.(640-642)tcC>tcT		CD40 ligand	Atorvastatin(DB01076)						230.0	217.0	221.0					X																	135741430		2203	4300	6503	SO:0001819	synonymous_variant	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741430C>T	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.642C>T	X.37:g.135741430C>T						CD40LG_ENST00000370628.2_Silent_p.S193S	p.S214S	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN			5	698	+	Acute lymphoblastic leukemia(192;0.000127)		214						Silent	SNP	ENST00000370629.2	37	c.642C>T	CCDS14659.1																																																																																				0.493	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		83	214	0	0	0	1	0	83	214				
PCDHA10	56139	broad.mit.edu	37	5	140237320	140237320	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140237320G>A	ENST00000307360.5	+	1	1687	c.1687G>A	c.(1687-1689)Gcg>Acg	p.A563T	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	563	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCTCCCGCGCTGCTGGC	0.687																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1687-1689)Gcg>Acg									23.0	25.0	24.0					5																	140237320		1319	2285	3604	SO:0001583	missense	56139							g.chr5:140237320G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1687G>A	5.37:g.140237320G>A	ENSP00000304234:p.Ala563Thr					PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	p.A563T	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1687	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1687G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	0.202	-1.043837	0.01997	.	.	ENSG00000250120	ENST00000307360	T	0.37235	1.21	3.68	-0.542	0.11854	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.14313	0.0346	N	0.17082	0.46	0.09310	N	1	B;B	0.31351	0.32;0.012	B;B	0.20767	0.031;0.005	T	0.19614	-1.0300	9	0.15952	T	0.53	.	1.9537	0.03372	0.275:0.1273:0.451:0.1466	.	563;563	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	T	563	ENSP00000304234:A563T	ENSP00000304234:A563T	A	+	1	0	PCDHA10	140217504	0.000000	0.05858	0.387000	0.26183	0.050000	0.14768	-0.728000	0.04925	-0.016000	0.14127	0.491000	0.48974	GCG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		24	55	0	0	0	1	0	24	55				
SPTBN2	6712	broad.mit.edu	37	11	66466933	66466933	+	Silent	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:66466933A>T	ENST00000533211.1	-	18	4051	c.3720T>A	c.(3718-3720)tcT>tcA	p.S1240S	SPTBN2_ENST00000529997.1_Silent_p.S1240S|SPTBN2_ENST00000309996.2_Silent_p.S1240S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1240					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGTTGCCTTCAGATACCAGCT	0.552																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3718-3720)tcT>tcA		spectrin, beta, non-erythrocytic 2							94.0	89.0	91.0					11																	66466933		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66466933A>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3720T>A	11.37:g.66466933A>T						SPTBN2_ENST00000529997.1_Silent_p.S1240S|SPTBN2_ENST00000309996.2_Silent_p.S1240S	p.S1240S			O15020	SPTN2_HUMAN			18	4051	-			1240					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.3720T>A	CCDS8150.1																																																																																				0.552	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		31	74	0	0	0	1	0	31	74				
MYBBP1A	10514	broad.mit.edu	37	17	4446340	4446340	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:4446340G>A	ENST00000254718.4	-	20	3066	c.2760C>T	c.(2758-2760)gcC>gcT	p.A920A	MYBBP1A_ENST00000381556.2_Silent_p.A920A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	920					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGTGGTAGAGGGCGGTGGGGG	0.662																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(2758-2760)gcC>gcT		MYB binding protein (P160) 1a							54.0	63.0	60.0					17																	4446340		2203	4300	6503	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4446340G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2760C>T	17.37:g.4446340G>A						MYBBP1A_ENST00000381556.2_Silent_p.A920A	p.A920A			Q9BQG0	MBB1A_HUMAN			20	3066	-			920					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.2760C>T	CCDS11046.1																																																																																				0.662	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		28	90	0	0	0	1	0	28	90				
USP34	9736	broad.mit.edu	37	2	61436093	61436093	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:61436093C>G	ENST00000398571.2	-	70	8936	c.8860G>C	c.(8860-8862)Gaa>Caa	p.E2954Q	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2954					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCATCAGATTCTAATAGTATT	0.294																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(8860-8862)Gaa>Caa		ubiquitin specific peptidase 34							78.0	77.0	77.0					2																	61436093		1813	4056	5869	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61436093C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8860G>C	2.37:g.61436093C>G	ENSP00000381577:p.Glu2954Gln					USP34_ENST00000472689.1_5'UTR	p.E2954Q	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		70	8936	-			2954					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.8860G>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.822754|4.822754	0.90873|0.90873	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398571|ENST00000411912	T|.	0.33654|.	1.4|.	6.0|6.0	6.0|6.0	0.97389|0.97389	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67202|0.67202	0.2868|0.2868	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	D|.	0.57899|.	0.981|.	D|.	0.67900|.	0.954|.	T|T	0.59910|0.59910	-0.7365|-0.7365	10|5	0.54805|.	T|.	0.06|.	.|.	20.4946|20.4946	0.99205|0.99205	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2954|.	Q70CQ2|.	UBP34_HUMAN|.	Q|T	2802;2954|713	ENSP00000381577:E2954Q|.	ENSP00000263989:E2802Q|.	E|R	-|-	1|2	0|0	USP34|USP34	61289597|61289597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.146000|7.146000	0.77373|0.77373	2.846000|2.846000	0.97976|0.97976	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.294	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	27	0	0	0	1	0	4	27				
IRF3	3661	broad.mit.edu	37	19	50165569	50165569	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:50165569C>T	ENST00000597198.1	-	6	999	c.618G>A	c.(616-618)gtG>gtA	p.V206V	IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000600911.1_Silent_p.V206V|IRF3_ENST00000377139.3_Silent_p.V206V|IRF3_ENST00000309877.7_Silent_p.V206V|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599144.1_Silent_p.V60V|IRF3_ENST00000598808.1_Silent_p.V60V|IRF3_ENST00000601291.1_Silent_p.V206V|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000593922.1_Silent_p.V60V			Q14653	IRF3_HUMAN	interferon regulatory factor 3	206	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AGAAGGCTGTCACCTCGAACT	0.672																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(616-618)gtG>gtA		interferon regulatory factor 3							39.0	44.0	43.0					19																	50165569		2203	4300	6503	SO:0001819	synonymous_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165569C>T		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.618G>A	19.37:g.50165569C>T						IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000600911.1_Silent_p.V206V|IRF3_ENST00000599144.1_Silent_p.V60V|IRF3_ENST00000593922.1_Silent_p.V60V|IRF3_ENST00000309877.7_Silent_p.V206V|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000598808.1_Silent_p.V60V|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000601291.1_Silent_p.V206V|IRF3_ENST00000377139.3_Silent_p.V206V|IRF3_ENST00000599223.1_Intron	p.V206V			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	999	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	206			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Silent	SNP	ENST00000597198.1	37	c.618G>A	CCDS12775.1																																																																																				0.672	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		11	57	0	0	0	1	0	11	57				
HLA-B	3106	broad.mit.edu	37	6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:31323241G>C	ENST00000412585.2	-	4	776	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	250	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(748-750)Cag>Gag		major histocompatibility complex, class I, B							112.0	98.0	102.0					6																	31323241		2203	4300	6503	SO:0001583	missense	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323241G>C	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.748C>G	6.37:g.31323241G>C	ENSP00000399168:p.Gln250Glu						p.Q250E	NM_005514.6	NP_005505.2					4	776	-								Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.748C>G	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	7.762	0.705516	0.15172	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	T	0.02472	4.28	3.16	3.16	0.36331	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.39834	U	0.001254	T	0.04770	0.0129	L	0.49513	1.565	0.27829	N	0.941517	D	0.52996	0.957	D	0.68039	0.955	T	0.06862	-1.0803	10	0.87932	D	0	.	12.2525	0.54605	0.0:0.0:1.0:0.0	.	250	P01889	1B07_HUMAN	E	250;129;129	ENSP00000399168:Q250E	ENSP00000399168:Q250E	Q	-	1	0	HLA-B	31431220	0.998000	0.40836	0.983000	0.44433	0.035000	0.12851	3.446000	0.52928	1.804000	0.52760	0.442000	0.29010	CAG		0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		40	102	0	0	0	1	0	40	102				
GBP5	115362	broad.mit.edu	37	1	89727993	89727993	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:89727993C>T	ENST00000370459.3	-	10	1684	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	GBP5_ENST00000471171.1_5'Flank|GBP5_ENST00000343435.5_Silent_p.E519E|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	519						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GATGGAGTCTCTCCCTCTCCT	0.478																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1555-1557)gaG>gaA		guanylate binding protein 5							226.0	196.0	206.0					1																	89727993		2203	4300	6503	SO:0001819	synonymous_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89727993C>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1557G>A	1.37:g.89727993C>T						GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Silent_p.E519E	p.E519E	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	11	2093	-			519					B2RCE1|Q86TM5	Silent	SNP	ENST00000370459.3	37	c.1557G>A	CCDS722.1																																																																																				0.478	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		33	80	0	0	0	1	0	33	80				
SPTAN1	6709	broad.mit.edu	37	9	131388796	131388796	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:131388796G>A	ENST00000372731.4	+	48	6501	c.6391G>A	c.(6391-6393)Gag>Aag	p.E2131K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E2136K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E2136K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2131					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGCTTTGCGCGAGGCCCACGA	0.577																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(6406-6408)Gag>Aag		spectrin, alpha, non-erythrocytic 1							70.0	74.0	73.0					9																	131388796		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131388796G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6391G>A	9.37:g.131388796G>A	ENSP00000361816:p.Glu2131Lys					SPTAN1_ENST00000372739.3_Missense_Mutation_p.E2136K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E2131K	p.E2136K			Q13813	SPTA2_HUMAN			49	6519	+			2131					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6406G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685629	0.47991	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.45276	0.9;0.9;0.9	5.53	5.53	0.82687	.	0.050328	0.85682	D	0.000000	T	0.35393	0.0930	L	0.38531	1.155	0.80722	D	1	P;P;B	0.42993	0.797;0.641;0.081	B;B;B	0.39217	0.294;0.054;0.049	T	0.07520	-1.0768	10	0.15066	T	0.55	.	19.4754	0.94985	0.0:0.0:1.0:0.0	.	2111;2136;2131	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	2136;2131;2136;2111;380	ENSP00000350882:E2136K;ENSP00000361816:E2131K;ENSP00000361824:E2136K	ENSP00000350882:E2136K	E	+	1	0	SPTAN1	130428617	1.000000	0.71417	0.956000	0.39512	0.782000	0.44232	9.476000	0.97823	2.597000	0.87782	0.563000	0.77884	GAG		0.577	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		23	67	0	0	0	1	0	23	67				
PLXNA3	55558	broad.mit.edu	37	X	153695621	153695621	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:153695621G>A	ENST00000369682.3	+	19	3423	c.3248G>A	c.(3247-3249)gGc>gAc	p.G1083D		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1083	IPT/TIG 3.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGCCCCCGGCATCTTTCTT	0.637																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(3247-3249)gGc>gAc		plexin A3							48.0	47.0	47.0					X																	153695621		2202	4299	6501	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153695621G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3248G>A	X.37:g.153695621G>A	ENSP00000358696:p.Gly1083Asp						p.G1083D	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			19	3423	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1083			IPT/TIG 3.		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3248G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274516	0.80580	.	.	ENSG00000130827	ENST00000369682	T	0.76968	-1.06	5.67	5.67	0.87782	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81716	0.4881	M	0.64997	1.995	0.80722	D	1	P	0.37731	0.607	P	0.46208	0.507	T	0.80852	-0.1197	10	0.41790	T	0.15	.	17.4303	0.87537	0.0:0.0:1.0:0.0	.	1083	P51805	PLXA3_HUMAN	D	1083	ENSP00000358696:G1083D	ENSP00000358696:G1083D	G	+	2	0	PLXNA3	153348815	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.485000	0.53208	2.385000	0.81259	0.529000	0.55759	GGC		0.637	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		24	62	0	0	0	1	0	24	62				
ZNF341	84905	broad.mit.edu	37	20	32379270	32379270	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:32379270G>A	ENST00000375200.1	+	15	2877	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.E831K|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	838					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGCTGGGGCCGAGGGCCCATG	0.662																																						ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(2512-2514)Gag>Aag		zinc finger protein 341							27.0	23.0	25.0					20																	32379270		2201	4296	6497	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32379270G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2512G>A	20.37:g.32379270G>A	ENSP00000364346:p.Glu838Lys					RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.E831K|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	p.E838K			Q9BYN7	ZN341_HUMAN			15	2877	+			838					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.2512G>A		.	.	.	.	.	.	.	.	.	.	G	16.52	3.145358	0.57044	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.10005	3.17;2.92	5.28	5.28	0.74379	.	0.230818	0.37577	N	0.002037	T	0.06781	0.0173	N	0.24115	0.695	0.35212	D	0.77522	P;P;P;P	0.45240	0.569;0.772;0.772;0.854	B;B;B;B	0.30943	0.036;0.122;0.053;0.113	T	0.25082	-1.0142	10	0.59425	D	0.04	-23.5698	13.569	0.61834	0.0752:0.0:0.9248:0.0	.	779;690;838;831	Q504V9;B3KU97;Q9BYN7;Q9BYN7-2	.;.;ZN341_HUMAN;.	K	831;838	ENSP00000344308:E831K;ENSP00000364346:E838K	ENSP00000344308:E831K	E	+	1	0	ZNF341	31842931	1.000000	0.71417	0.994000	0.49952	0.774000	0.43823	3.917000	0.56424	2.639000	0.89480	0.491000	0.48974	GAG		0.662	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				14	23	0	0	0	1	0	14	23				
ATP10A	57194	broad.mit.edu	37	15	25947159	25947159	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:25947159G>A	ENST00000356865.6	-	13	2775	c.2664C>T	c.(2662-2664)ctC>ctT	p.L888L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	888					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTCACCAGTGAGAACCCAAA	0.527																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2662-2664)ctC>ctT		ATPase, class V, type 10A							170.0	156.0	161.0					15																	25947159		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25947159G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2664C>T	15.37:g.25947159G>A							p.L888L	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	13	2775	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	888					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2664C>T	CCDS32178.1																																																																																				0.527	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		32	73	0	0	0	1	0	32	73				
CTNNA2	1496	broad.mit.edu	37	2	80801407	80801407	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:80801407C>T	ENST00000402739.4	+	12	1866	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	CTNNA2_ENST00000343114.3_Missense_Mutation_p.R300W|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R621W|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R621W|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R621W|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R655W|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R621W	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	621					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGATGGCGTTCGGGACATCAG	0.502																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1861-1863)Cgg>Tgg		catenin (cadherin-associated protein), alpha 2							166.0	159.0	161.0					2																	80801407		2144	4273	6417	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80801407C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1861C>T	2.37:g.80801407C>T	ENSP00000384638:p.Arg621Trp					CTNNA2_ENST00000343114.3_Missense_Mutation_p.R300W|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R655W|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R621W|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R621W|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R621W|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R621W	p.R621W			P26232	CTNA2_HUMAN			17	2585	+			621					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1861C>T		.	.	.	.	.	.	.	.	.	.	C	25.2	4.610628	0.87258	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.55	5.55	0.83447	.	0.130877	0.52532	D	0.000062	T	0.57651	0.2068	M	0.86178	2.8	0.80722	D	1	P;P;P;D	0.56746	0.913;0.925;0.95;0.977	P;P;B;P	0.48189	0.455;0.57;0.405;0.557	T	0.64935	-0.6290	9	.	.	.	.	17.69	0.88267	0.0:1.0:0.0:0.0	.	253;621;621;621	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	W	621;621;655;621;621;621;300	ENSP00000418191:R621W;ENSP00000419295:R621W;ENSP00000355398:R655W;ENSP00000384638:R621W;ENSP00000444675:R621W;ENSP00000441705:R621W;ENSP00000341500:R300W	.	R	+	1	2	CTNNA2	80654918	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.653000	0.61462	2.626000	0.88956	0.655000	0.94253	CGG		0.502	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		25	86	0	0	0	1	0	25	86				
POLRMT	5442	broad.mit.edu	37	19	623567	623567	+	Silent	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:623567A>G	ENST00000588649.2	-	6	1261	c.1177T>C	c.(1177-1179)Ttg>Ctg	p.L393L	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	393					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGTCTTCAAGGGCAGGTGC	0.642																																						ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(1177-1179)Ttg>Ctg		polymerase (RNA) mitochondrial (DNA directed)							55.0	51.0	52.0					19																	623567		2202	4300	6502	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:623567A>G		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1177T>C	19.37:g.623567A>G						LLNLR-299G3.1_ENST00000607288.1_RNA	p.L393L	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1261	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	393					O60370	Silent	SNP	ENST00000588649.2	37	c.1177T>C	CCDS12036.1																																																																																				0.642	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		4	66	0	0	0	1	0	4	66				
C16orf86	388284	broad.mit.edu	37	16	67702164	67702164	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:67702164C>T	ENST00000403458.4	+	4	770	c.615C>T	c.(613-615)aaC>aaT	p.N205N	ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602644.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	205										endometrium(2)|lung(4)	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)		CTGAGCTGAACCAGGCAGGGA	0.662											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000403458.4																			0				endometrium(2)|lung(4)	6						c.(613-615)aaC>aaT		chromosome 16 open reading frame 86							15.0	18.0	17.0					16																	67702164		2187	4289	6476	SO:0001819	synonymous_variant	388284							g.chr16:67702164C>T		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.615C>T	16.37:g.67702164C>T			OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1101		p.N205N	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	4	770	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	205					B5MCW6	Silent	SNP	ENST00000403458.4	37	c.615C>T	CCDS32468.2																																																																																				0.662	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		7	16	0	0	0	1	0	7	16				
HYAL4	23553	broad.mit.edu	37	7	123508442	123508442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:123508442C>T	ENST00000223026.4	+	3	753	c.115C>T	c.(115-117)Cga>Tga	p.R39*	HYAL4_ENST00000476325.1_Nonsense_Mutation_p.R39*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	39					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAACCTGCTCGACTTCCAAT	0.323																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(115-117)Cga>Tga		hyaluronoglucosaminidase 4							91.0	99.0	96.0					7																	123508442		2202	4300	6502	SO:0001587	stop_gained	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508442C>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.115C>T	7.37:g.123508442C>T	ENSP00000223026:p.Arg39*					HYAL4_ENST00000476325.1_Nonsense_Mutation_p.R39*	p.R39*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			3	753	+			39					D0VXG1|Q9UL99|Q9Y6T9	Nonsense_Mutation	SNP	ENST00000223026.4	37	c.115C>T	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799653	0.50208	.	.	ENSG00000106302	ENST00000489978;ENST00000488323;ENST00000223026;ENST00000476325	.	.	.	5.2	4.33	0.51752	.	0.270258	0.35320	N	0.003291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.68	9.3545	0.38157	0.0:0.8206:0.0:0.1794	.	.	.	.	X	39	.	ENSP00000223026:R39X	R	+	1	2	HYAL4	123295678	0.003000	0.15002	0.637000	0.29366	0.921000	0.55340	1.684000	0.37649	1.327000	0.45338	-0.136000	0.14681	CGA		0.323	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		12	38	0	0	0	1	0	12	38				
FAM199X	139231	broad.mit.edu	37	X	103411634	103411634	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:103411634C>G	ENST00000493442.1	+	1	334	c.168C>G	c.(166-168)acC>acG	p.T56T		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	56										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GCCATCGCACCGACCCGCTCC	0.672																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(166-168)acC>acG		family with sequence similarity 199, X-linked							39.0	32.0	34.0					X																	103411634		2202	4300	6502	SO:0001819	synonymous_variant	139231							g.chrX:103411634C>G	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.168C>G	X.37:g.103411634C>G							p.T56T	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN			1	334	+			56					Q8WVP6|Q96AV3	Silent	SNP	ENST00000493442.1	37	c.168C>G	CCDS35364.1																																																																																				0.672	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		9	26	0	0	0	1	0	9	26				
FBXW11	23291	broad.mit.edu	37	5	171295716	171295716	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:171295716C>T	ENST00000265094.5	-	12	1689	c.1552G>A	c.(1552-1554)Gat>Aat	p.D518N	FBXW11_ENST00000425623.2_Missense_Mutation_p.D486N|FBXW11_ENST00000296933.6_Missense_Mutation_p.D505N|FBXW11_ENST00000393802.2_Missense_Mutation_p.D484N	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	518					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTAAGAAATCCCAAATCAAA	0.438																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(1513-1515)Gat>Aat		F-box and WD repeat domain containing 11							119.0	110.0	113.0					5																	171295716		2203	4300	6503	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171295716C>T	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1552G>A	5.37:g.171295716C>T	ENSP00000265094:p.Asp518Asn					FBXW11_ENST00000265094.5_Missense_Mutation_p.D518N|FBXW11_ENST00000393802.2_Missense_Mutation_p.D484N|FBXW11_ENST00000425623.2_Missense_Mutation_p.D486N	p.D505N	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		12	1883	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	518					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.1513G>A	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032379	0.93575	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67202	0.2868	L	0.46741	1.465	0.80722	D	1	P;P;B;B	0.41159	0.74;0.551;0.201;0.167	B;B;B;B	0.43331	0.416;0.292;0.273;0.178	T	0.70332	-0.4901	10	0.59425	D	0.04	-13.7034	18.6814	0.91547	0.0:1.0:0.0:0.0	.	486;484;518;505	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	N	505;518;484;486	ENSP00000296933:D505N;ENSP00000265094:D518N;ENSP00000377391:D484N;ENSP00000444929:D486N	ENSP00000265094:D518N	D	-	1	0	FBXW11	171228321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.728000	0.84847	2.507000	0.84556	0.563000	0.77884	GAT		0.438	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		14	35	0	0	0	1	0	14	35				
PDK3	5165	broad.mit.edu	37	X	24546214	24546214	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:24546214G>A	ENST00000379162.4	+	9	1109	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	PDK3_ENST00000441463.2_Missense_Mutation_p.V292I	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	292	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGTGGTGGTGTCCCACTTCG	0.413																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(874-876)Gtc>Atc		pyruvate dehydrogenase kinase, isozyme 3							140.0	112.0	121.0					X																	24546214		2203	4300	6503	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24546214G>A	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.874G>A	X.37:g.24546214G>A	ENSP00000368460:p.Val292Ile					PDK3_ENST00000379162.4_Missense_Mutation_p.V292I	p.V292I	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			9	874	+			292			Histidine kinase.		B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.874G>A	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338609	0.41398	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.67865	-0.29;-0.29	4.97	4.97	0.65823	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	N	0.02357	-0.585	0.80722	D	1	B;B	0.22211	0.066;0.066	B;B	0.31191	0.125;0.125	T	0.46359	-0.9197	10	0.02654	T	1	.	17.4533	0.87599	0.0:0.0:1.0:0.0	.	292;292	B4DXG6;Q15120	.;PDK3_HUMAN	I	292	ENSP00000368460:V292I;ENSP00000387536:V292I	ENSP00000368460:V292I	V	+	1	0	PDK3	24456135	1.000000	0.71417	0.995000	0.50966	0.925000	0.55904	9.197000	0.94985	2.305000	0.77605	0.513000	0.50165	GTC		0.413	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		10	46	0	0	0	1	0	10	46				
ZNF281	23528	broad.mit.edu	37	1	200376778	200376778	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:200376778G>A	ENST00000294740.3	-	2	2180	c.2056C>T	c.(2056-2058)Ctt>Ttt	p.L686F	ZNF281_ENST00000367353.1_Missense_Mutation_p.L686F|ZNF281_ENST00000367352.3_Missense_Mutation_p.L650F	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	686					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCGTGTCCAAGAGTAAAACTT	0.398																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2056-2058)Ctt>Ttt		zinc finger protein 281							131.0	144.0	140.0					1																	200376778		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376778G>A	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2056C>T	1.37:g.200376778G>A	ENSP00000294740:p.Leu686Phe					ZNF281_ENST00000367353.1_Missense_Mutation_p.L686F|ZNF281_ENST00000367352.3_Missense_Mutation_p.L650F	p.L686F	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	2180	-			686					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.2056C>T	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	5.836	0.338527	0.11069	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.52526	0.66;0.66;0.66	5.54	4.53	0.55603	.	0.230483	0.41097	D	0.000951	T	0.23330	0.0564	N	0.04959	-0.14	0.39845	D	0.973161	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.10200	-1.0640	10	0.36615	T	0.2	0.1646	6.6367	0.22887	0.2069:0.0:0.7931:0.0	.	650;686	A6NF48;Q9Y2X9	.;ZN281_HUMAN	F	686;686;650;391	ENSP00000294740:L686F;ENSP00000356322:L686F;ENSP00000356321:L650F	ENSP00000294740:L686F	L	-	1	0	ZNF281	198643401	1.000000	0.71417	0.967000	0.41034	0.891000	0.51852	3.228000	0.51270	2.597000	0.87782	0.655000	0.94253	CTT		0.398	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		30	77	0	0	0	1	0	30	77				
CTNND1	1500	broad.mit.edu	37	11	57564299	57564299	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:57564299G>A	ENST00000399050.4	+	6	1327	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	CTNND1_ENST00000529919.1_Missense_Mutation_p.R264Q|CTNND1_ENST00000361391.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361796.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529526.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000532844.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000428599.2_Missense_Mutation_p.R264Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000524630.1_Missense_Mutation_p.R264Q|CTNND1_ENST00000529873.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000415361.2_Missense_Mutation_p.R163Q|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532649.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361332.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.R264Q|CTNND1_ENST00000530094.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.R163Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R210Q	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	264					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CCCCAGGTTCGGGTAGGTGGG	0.577																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(790-792)cGg>cAg		catenin (cadherin-associated protein), delta 1							139.0	146.0	144.0					11																	57564299		2096	4244	6340	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57564299G>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.791G>A	11.37:g.57564299G>A	ENSP00000382004:p.Arg264Gln					CTNND1_ENST00000528232.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000428599.2_Missense_Mutation_p.R264Q|CTNND1_ENST00000532844.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000529919.1_Missense_Mutation_p.R264Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.R163Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000529873.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000415361.2_Missense_Mutation_p.R163Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000358694.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000361332.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.R264Q|CTNND1_ENST00000399050.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000530094.1_Missense_Mutation_p.R163Q	p.R264Q			O60716	CTND1_HUMAN			6	1304	+		all_epithelial(135;0.155)	264					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.791G>A	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918601	0.73098	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000528232;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72051	-0.24;-0.24;-0.24;-0.62;-0.24;-0.24;-0.15;-0.25;-0.61;-0.25;-0.15;-0.15;-0.24;-0.5;-0.24;-0.24;-0.25;-0.24;-0.16;-0.61;-0.26;-0.25;-0.24;-0.25;-0.15;-0.24;-0.61;2.22	5.92	5.92	0.95590	Armadillo-like helical (1);	0.196102	0.45361	D	0.000364	T	0.74627	0.3741	L	0.29908	0.895	0.30988	N	0.721736	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.999;0.987;0.999;0.998	P;P;P;P;P;P;P;P	0.58721	0.844;0.844;0.703;0.844;0.844;0.48;0.844;0.703	T	0.72629	-0.4235	10	0.38643	T	0.18	-13.9564	19.9276	0.97108	0.0:0.0:1.0:0.0	.	264;264;264;210;210;264;264;264	O60716-3;O60716-2;O60716;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.	Q	264;264;264;264;264;210;163;264;264;264;163;163;264;163;210;210;210;264;163;210;210;210;163;163;163;210;264;186	ENSP00000436543:R264Q;ENSP00000434808:R264Q;ENSP00000381996:R264Q;ENSP00000353902:R264Q;ENSP00000354907:R264Q;ENSP00000436323:R210Q;ENSP00000409930:R163Q;ENSP00000382004:R264Q;ENSP00000354785:R264Q;ENSP00000354823:R264Q;ENSP00000432075:R163Q;ENSP00000437156:R163Q;ENSP00000351527:R264Q;ENSP00000434949:R163Q;ENSP00000435379:R210Q;ENSP00000432243:R210Q;ENSP00000436744:R210Q;ENSP00000413586:R264Q;ENSP00000435266:R163Q;ENSP00000435494:R210Q;ENSP00000433276:R210Q;ENSP00000433334:R210Q;ENSP00000437327:R163Q;ENSP00000403518:R163Q;ENSP00000434017:R163Q;ENSP00000435789:R210Q;ENSP00000432041:R264Q;ENSP00000434202:R186Q	ENSP00000351527:R264Q	R	+	2	0	CTNND1	57320875	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.903000	0.56318	2.805000	0.96524	0.655000	0.94253	CGG		0.577	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		54	157	0	0	0	1	0	54	157				
STAB2	55576	broad.mit.edu	37	12	104098378	104098378	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:104098378G>A	ENST00000388887.2	+	36	4090	c.3886G>A	c.(3886-3888)Gga>Aga	p.G1296R		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGCCCATTCGGAACTAAATC	0.368																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(3886-3888)Gga>Aga		stabilin 2							98.0	97.0	97.0					12																	104098378		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104098378G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3886G>A	12.37:g.104098378G>A	ENSP00000373539:p.Gly1296Arg						p.G1296R	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			36	4090	+			1296						Missense_Mutation	SNP	ENST00000388887.2	37	c.3886G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156361	0.78114	.	.	ENSG00000136011	ENST00000388887	T	0.65732	-0.17	5.65	5.65	0.86999	Growth factor, receptor (1);	0.120082	0.56097	D	0.000031	T	0.80221	0.4583	H	0.95079	3.62	0.38021	D	0.934839	D	0.69078	0.997	P	0.51324	0.666	D	0.86393	0.1737	10	0.46703	T	0.11	.	16.823	0.85923	0.0:0.0:1.0:0.0	.	1296	Q8WWQ8	STAB2_HUMAN	R	1296	ENSP00000373539:G1296R	ENSP00000373539:G1296R	G	+	1	0	STAB2	102622508	1.000000	0.71417	0.679000	0.29978	0.031000	0.12232	5.413000	0.66399	2.827000	0.97445	0.650000	0.86243	GGA		0.368	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			4	23	0	0	0	1	0	4	23				
ABCA13	154664	broad.mit.edu	37	7	48319203	48319203	+	Silent	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:48319203T>C	ENST00000435803.1	+	18	8436	c.8412T>C	c.(8410-8412)agT>agC	p.S2804S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2804					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						CACCTTTGAGTCAGAATATAA	0.328																																						ENST00000435803.1																			0				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						c.(8410-8412)agT>agC		ATP-binding cassette, sub-family A (ABC1), member 13							55.0	56.0	56.0					7																	48319203		1802	4071	5873	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48319203T>C	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.8412T>C	7.37:g.48319203T>C							p.S2804S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	8436	+			2804					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.8412T>C	CCDS47584.1																																																																																				0.328	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		10	24	0	0	0	1	0	10	24				
GBA3	57733	broad.mit.edu	37	4	22729276	22729276	+	RNA	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:22729276C>T	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGAGTTATCTCAGGCACCCAC	0.408																																						ENST00000503442.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							162.0	168.0	166.0					4																	22729276		2203	4300	6503			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22729276C>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22729276C>T						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN			0	149	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.408	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			51	123	0	0	0	1	0	51	123				
ZHX3	23051	broad.mit.edu	37	20	39831673	39831673	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:39831673C>T	ENST00000309060.3	-	4	2299	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	ZHX3_ENST00000544979.2_Silent_p.E628E|ZHX3_ENST00000559234.1_Silent_p.E628E|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Silent_p.E628E|ZHX3_ENST00000540170.1_Silent_p.E628E|ZHX3_ENST00000432768.2_Silent_p.E628E			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	628					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAAAACTGCTCTCCAGGGCTC	0.507																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1882-1884)gaG>gaA		zinc fingers and homeoboxes 3							133.0	134.0	133.0					20																	39831673		2203	4300	6503	SO:0001819	synonymous_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831673C>T	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1884G>A	20.37:g.39831673C>T						ZHX3_ENST00000432768.2_Silent_p.E628E|ZHX3_ENST00000540170.1_Silent_p.E628E|ZHX3_ENST00000560361.1_Silent_p.E628E|ZHX3_ENST00000559234.1_Silent_p.E628E|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.E628E	p.E628E			Q9H4I2	ZHX3_HUMAN			4	2299	-		Myeloproliferative disorder(115;0.00425)	628					E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.1884G>A	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	4.434	0.080278	0.08533	.	.	ENSG00000174306	ENST00000421422	D	0.97575	-4.44	6.06	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.96867	0.8977	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.95009	0.8150	7	0.30854	T	0.27	-27.0315	13.9196	0.63923	0.0:0.9049:0.0:0.0951	.	.	.	.	K	337	ENSP00000405421:E337K	ENSP00000405421:E337K	E	-	1	0	ZHX3	39265087	0.911000	0.30947	1.000000	0.80357	0.985000	0.73830	0.380000	0.20602	0.823000	0.34589	0.650000	0.86243	GAG		0.507	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		36	77	0	0	0	1	0	36	77				
SPATA31A6	389730	broad.mit.edu	37	9	43630701	43630701	+	Start_Codon_SNP	SNP	T	T	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:43630701T>G	ENST00000332857.6	-	1	29	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGATTCTCCATGTGAATAGGC	0.537																																						ENST00000332857.6																			0											c.(1-3)Atg>Ctg		SPATA31 subfamily A, member 6																																				SO:0001582	initiator_codon_variant	389730							g.chr9:43630701T>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1A>C	9.37:g.43630701T>G	ENSP00000329825:p.Met1Leu						p.M1L	NM_001145196.1	NP_001138668.1					1	29	-									Translation_Start_Site	SNP	ENST00000332857.6	37	c.1A>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	9.729	1.161676	0.21538	.	.	ENSG00000185775	ENST00000332857	T	0.05996	3.36	1.96	1.96	0.26148	.	.	.	.	.	T	0.05135	0.0137	.	.	.	0.80722	D	1	P	0.37781	0.608	B	0.33254	0.16	T	0.39722	-0.9600	8	0.87932	D	0	-0.2237	5.9755	0.19377	0.0:0.0:0.0:1.0	.	1	Q5VVP1	F75A6_HUMAN	L	1	ENSP00000329825:M1L	ENSP00000329825:M1L	M	-	1	0	FAM75A6	43570697	0.838000	0.29461	0.004000	0.12327	0.087000	0.18053	1.099000	0.31013	1.173000	0.42796	0.155000	0.16302	ATG		0.537	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196	Missense_Mutation	24	63	0	0	0	1	0	24	63				
OR10H2	26538	broad.mit.edu	37	19	15839060	15839060	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:15839060C>T	ENST00000305899.3	+	1	227	c.207C>T	c.(205-207)tcC>tcT	p.S69S		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S69S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCTCAGTCTCCGAGATCCTCT	0.627																																						ENST00000305899.3																			1	Substitution - coding silent(1)	p.S69S(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(205-207)tcC>tcT		olfactory receptor, family 10, subfamily H, member 2							210.0	170.0	183.0					19																	15839060		2203	4300	6503	SO:0001819	synonymous_variant	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839060C>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.207C>T	19.37:g.15839060C>T							p.S69S	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	227	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		69					Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	c.207C>T	CCDS12333.1																																																																																				0.627	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			84	110	0	0	0	1	0	84	110				
C2orf42	54980	broad.mit.edu	37	2	70408755	70408755	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:70408755C>G	ENST00000264434.2	-	3	742	c.363G>C	c.(361-363)ctG>ctC	p.L121L	C2orf42_ENST00000470096.1_5'Flank|C2orf42_ENST00000420306.1_Silent_p.L121L	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	121										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGGCAGCTTTCAGGCATGAGG	0.572																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(361-363)ctG>ctC		chromosome 2 open reading frame 42							67.0	59.0	62.0					2																	70408755		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70408755C>G	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.363G>C	2.37:g.70408755C>G						C2orf42_ENST00000420306.1_Silent_p.L121L	p.L121L	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			3	742	-			121					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.363G>C	CCDS1899.1																																																																																				0.572	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		22	35	0	0	0	1	0	22	35				
SPSB3	90864	broad.mit.edu	37	16	1828032	1828032	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:1828032C>T	ENST00000566339.1	-	5	840	c.510G>A	c.(508-510)acG>acA	p.T170T	SPSB3_ENST00000301717.4_Silent_p.T170T	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	170	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CCACATCCGACGTCCCGATGC	0.667																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(508-510)acG>acA		splA/ryanodine receptor domain and SOCS box containing 3							66.0	63.0	64.0					16																	1828032		2199	4300	6499	SO:0001819	synonymous_variant	90864				intracellular signal transduction			g.chr16:1828032C>T		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.510G>A	16.37:g.1828032C>T						SPSB3_ENST00000301717.4_Silent_p.T170T	p.T170T	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			5	840	-			170			B30.2/SPRY.		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	c.510G>A	CCDS32365.1																																																																																				0.667	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		9	32	0	0	0	1	0	9	32				
IMP3	55272	broad.mit.edu	37	15	75931969	75931969	+	Missense_Mutation	SNP	C	C	G	rs141574567		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:75931969C>G	ENST00000314852.2	-	2	1484	c.541G>C	c.(541-543)Gat>Cat	p.D181H	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000403490.1_Missense_Mutation_p.D181H|CTD-2026K11.2_ENST00000564683.1_RNA			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	0					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			large_intestine(1)	1						GCTTCCAGATCGAAGTCATCG	0.527																																						ENST00000314852.2																			0				large_intestine(1)	1						c.(541-543)Gat>Cat		IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)							80.0	71.0	74.0					15																	75931969		2197	4294	6491	SO:0001583	missense	55272				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding	g.chr15:75931969C>G	AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"""mitochondrial ribosomal protein S4"", ""chromosome 15 open reading frame 12"", ""IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.541G>C	15.37:g.75931969C>G	ENSP00000326981:p.Asp181His					IMP3_ENST00000403490.1_Missense_Mutation_p.D181H	p.D181H			Q9NV31	IMP3_HUMAN			2	1484	-			181					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000314852.2	37	c.541G>C	CCDS10282.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599267	0.66332	.	.	ENSG00000177971	ENST00000314852;ENST00000403490;ENST00000542473	.	.	.	5.99	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.85444	0.5698	H	0.96269	3.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.70487	0.969	D	0.88101	0.2819	9	0.87932	D	0	-34.9714	10.1483	0.42778	0.0:0.9123:0.0:0.0877	.	181	Q9NV31	IMP3_HUMAN	H	181;181;28	.	ENSP00000326981:D181H	D	-	1	0	IMP3	73719024	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	2.131000	0.42074	2.840000	0.97914	0.655000	0.94253	GAT		0.527	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	NM_018285		19	51	0	0	0	1	0	19	51				
GRM1	2911	broad.mit.edu	37	6	146720268	146720268	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:146720268C>T	ENST00000282753.1	+	7	2328	c.2093C>T	c.(2092-2094)cCc>cTc	p.P698L	GRM1_ENST00000492807.2_Missense_Mutation_p.P698L|GRM1_ENST00000361719.2_Missense_Mutation_p.P698L|GRM1_ENST00000355289.4_Missense_Mutation_p.P698L|GRM1_ENST00000507907.1_Missense_Mutation_p.P698L|GRM1_ENST00000392299.2_Missense_Mutation_p.P698L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	698					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACCCGGAAGCCCAGGTTCATG	0.517																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2092-2094)cCc>cTc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						129.0	127.0	128.0					6																	146720268		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720268C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2093C>T	6.37:g.146720268C>T	ENSP00000282753:p.Pro698Leu					GRM1_ENST00000282753.1_Missense_Mutation_p.P698L|GRM1_ENST00000361719.2_Missense_Mutation_p.P698L|GRM1_ENST00000355289.4_Missense_Mutation_p.P698L|GRM1_ENST00000492807.2_Missense_Mutation_p.P698L|GRM1_ENST00000507907.1_Missense_Mutation_p.P698L	p.P698L			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2563	+		Ovarian(120;0.0387)	698					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2093C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372714	0.82573	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92948	0.7756	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	D	0.92343	0.5883	10	0.51188	T	0.08	.	19.4081	0.94656	0.0:1.0:0.0:0.0	.	698;698;698	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	L	698	ENSP00000354896:P698L;ENSP00000376119:P698L;ENSP00000424095:P698L;ENSP00000282753:P698L;ENSP00000347437:P698L;ENSP00000425599:P698L	ENSP00000282753:P698L	P	+	2	0	GRM1	146761961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.604000	0.88044	0.585000	0.79938	CCC		0.517	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		38	107	0	0	0	1	0	38	107				
ARHGEF1	9138	broad.mit.edu	37	19	42408250	42408250	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:42408250G>T	ENST00000354532.3	+	21	2129	c.1981G>T	c.(1981-1983)Gac>Tac	p.D661Y	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.D676Y|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.D643Y|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.D628Y|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.D717Y	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	661	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GGTGACTAAGGACAAGGCAGT	0.647																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2149-2151)Gac>Tac		Rho guanine nucleotide exchange factor (GEF) 1							103.0	105.0	104.0					19																	42408250		2203	4300	6503	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42408250G>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1981G>T	19.37:g.42408250G>T	ENSP00000346532:p.Asp661Tyr					ARHGEF1_ENST00000337665.4_Missense_Mutation_p.D676Y|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.D628Y|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.D643Y|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.D661Y	p.D717Y			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	22	2274	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	661			PH.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.2149G>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258822	0.80246	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	4.08	4.08	0.47627	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.065965	0.64402	D	0.000016	T	0.62853	0.2462	M	0.67397	2.05	0.80722	D	1	P;D;D;P	0.67145	0.954;0.99;0.996;0.758	P;P;P;P	0.61201	0.537;0.885;0.87;0.507	T	0.68618	-0.5361	10	0.87932	D	0	-21.3994	14.1941	0.65659	0.0:0.0:1.0:0.0	.	643;676;628;661	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	Y	661;628;676;643	ENSP00000346532:D661Y;ENSP00000344429:D628Y;ENSP00000337261:D676Y;ENSP00000367394:D643Y	ENSP00000337261:D676Y	D	+	1	0	ARHGEF1	47100090	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.414000	0.97362	1.984000	0.57885	0.558000	0.71614	GAC		0.647	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		14	77	1	0	2.32078e-09	1	2.44157e-09	14	77				
SNW1	22938	broad.mit.edu	37	14	78184661	78184661	+	Intron	SNP	T	T	G	rs17825620	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:78184661T>G	ENST00000261531.7	-	14	1475				SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.K487N	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1						cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TATGAACTACTTTGCTTTCAC	0.438													T|||	595	0.11881	0.0613	0.1153	5008	,	,		20959	0.0456		0.2425	False		,,,				2504	0.1472					ENST00000555761.1																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1459-1461)aaA>aaC		SNW domain containing 1		T		409,3997	201.5+/-224.5	15,379,1809	130.0	131.0	131.0			1.9	0.0	14	dbSNP_123	131	1873,6727	333.8+/-320.7	228,1417,2655	no	intron	SNW1	NM_012245.2		243,1796,4464	GG,GT,TT		21.7791,9.2828,17.5457			78184661	2282,10724	2203	4300	6503	SO:0001627	intron_variant	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78184661T>G	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1413-32A>C	14.37:g.78184661T>G						SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000261531.7_Intron|SLIRP_ENST00000557623.1_Intron	p.K487N			Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	13	1489	-			0					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.1461A>C	CCDS9867.1	313	0.1433150183150183	40	0.08130081300813008	47	0.1298342541436464	34	0.05944055944055944	192	0.2532981530343008	T	5.795	0.330917	0.10956	0.092828	0.217791	ENSG00000100603	ENST00000555761	.	.	.	5.37	1.86	0.25419	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	5	.	.	.	.	2.1235	0.03731	0.4718:0.1802:0.0:0.3481	rs17825620;rs17825620	487	G3V3A4	.	N	487	.	.	K	-	3	2	SNW1	77254414	0.000000	0.05858	0.001000	0.08648	0.652000	0.38707	-0.638000	0.05452	0.084000	0.17077	0.377000	0.23210	AAA		0.438	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		5	123	0	0	0	1	0	5	123				
VPS37B	79720	broad.mit.edu	37	12	123380553	123380553	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:123380553G>A	ENST00000267202.2	-	1	438	c.57C>T	c.(55-57)aaC>aaT	p.N19N		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	19					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CCAGCAGCTCGTTGAGCTGCA	0.716																																						ENST00000267202.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5						c.(55-57)aaC>aaT		vacuolar protein sorting 37 homolog B (S. cerevisiae)							47.0	48.0	48.0					12																	123380553		2202	4300	6502	SO:0001819	synonymous_variant	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123380553G>A	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.57C>T	12.37:g.123380553G>A							p.N19N	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	1	438	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		19						Silent	SNP	ENST00000267202.2	37	c.57C>T	CCDS9239.1																																																																																				0.716	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		23	66	0	0	0	1	0	23	66				
DDX60	55601	broad.mit.edu	37	4	169145398	169145398	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:169145398T>C	ENST00000393743.3	-	35	5111	c.4820A>G	c.(4819-4821)aAc>aGc	p.N1607S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1607					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACTTACATGGTTTGGAGTTTC	0.373																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(4819-4821)aAc>aGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							77.0	74.0	75.0					4																	169145398		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169145398T>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4820A>G	4.37:g.169145398T>C	ENSP00000377344:p.Asn1607Ser						p.N1607S	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	35	5111	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1607					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.4820A>G	CCDS34097.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.913|9.913	1.210063|1.210063	0.22289|0.22289	.|.	.|.	ENSG00000137628|ENSG00000137628	ENST00000393743|ENST00000511317	T|.	0.17054|.	2.3|.	5.57|5.57	0.391|0.391	0.16282|0.16282	.|.	1.108800|.	0.06719|.	N|.	0.774606|.	T|T	0.30510|0.30510	0.0767|0.0767	L|L	0.28192|0.28192	0.835|0.835	0.09310|0.09310	N|N	1|1	B;B|.	0.25563|.	0.129;0.105|.	B;B|.	0.21151|.	0.024;0.033|.	T|T	0.27739|0.27739	-1.0065|-1.0065	10|5	0.05525|.	T|.	0.97|.	.|.	9.0721|9.0721	0.36500|0.36500	0.0:0.2903:0.0:0.7097|0.0:0.2903:0.0:0.7097	.|.	1607;99|.	Q8IY21;Q9NT91|.	DDX60_HUMAN;.|.	S|A	1607|100	ENSP00000377344:N1607S|.	ENSP00000377344:N1607S|.	N|T	-|-	2|1	0|0	DDX60|DDX60	169381973|169381973	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.199000|0.199000	0.23934|0.23934	0.521000|0.521000	0.22893|0.22893	-0.128000|-0.128000	0.11641|0.11641	-0.371000|-0.371000	0.07208|0.07208	AAC|ACC		0.373	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		7	22	0	0	0	1	0	7	22				
KIF5B	3799	broad.mit.edu	37	10	32321667	32321667	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:32321667C>T	ENST00000302418.4	-	13	1798	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	447					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCTTCAGTTTCTCTACCAGTT	0.383			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(1339-1341)gaG>gaA		kinesin family member 5B							201.0	181.0	188.0					10																	32321667		2203	4300	6503	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32321667C>T	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1341G>A	10.37:g.32321667C>T							p.E447E	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			13	1798	-		Prostate(175;0.0137)	447					A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.1341G>A	CCDS7171.1																																																																																				0.383	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		10	32	0	0	0	1	0	10	32				
CCDC110	256309	broad.mit.edu	37	4	186379847	186379847	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:186379847G>C	ENST00000307588.3	-	6	1969	c.1894C>G	c.(1894-1896)Caa>Gaa	p.Q632E	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.Q595E|CCDC110_ENST00000510617.1_Missense_Mutation_p.Q632E	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	632						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTATTATTTGAAGAAGTGTC	0.328																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1894-1896)Caa>Gaa		coiled-coil domain containing 110							86.0	89.0	88.0					4																	186379847		2202	4297	6499	SO:0001583	missense	256309					nucleus		g.chr4:186379847G>C	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1894C>G	4.37:g.186379847G>C	ENSP00000306776:p.Gln632Glu					CCDC110_ENST00000510617.1_Missense_Mutation_p.Q632E|CCDC110_ENST00000393540.3_Missense_Mutation_p.Q595E	p.Q632E	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1969	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	632					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1894C>G	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	0.684	-0.797182	0.02862	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.27557	1.66;1.66;1.66	5.55	4.69	0.59074	.	0.406603	0.21510	N	0.073381	T	0.25158	0.0611	L	0.54323	1.7	0.09310	N	1	P;P;P	0.36837	0.571;0.571;0.571	B;B;B	0.36608	0.229;0.229;0.229	T	0.12915	-1.0529	10	0.08599	T	0.76	-9.3149	9.1231	0.36799	0.0788:0.1488:0.7724:0.0	.	632;595;632	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	E	595;632;632	ENSP00000377172:Q595E;ENSP00000306776:Q632E;ENSP00000427246:Q632E	ENSP00000306776:Q632E	Q	-	1	0	CCDC110	186616841	1.000000	0.71417	0.421000	0.26609	0.311000	0.27955	2.732000	0.47352	1.418000	0.47098	0.655000	0.94253	CAA		0.328	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		8	28	0	0	0	1	0	8	28				
ATRX	546	broad.mit.edu	37	X	76939596	76939596	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:76939596A>T	ENST00000373344.5	-	9	1366	c.1152T>A	c.(1150-1152)agT>agA	p.S384R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S346R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	384					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGTAGCAGAACTGATTTCTG	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1150-1152)agT>agA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						182.0	186.0	185.0					X																	76939596		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939596A>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1152T>A	X.37:g.76939596A>T	ENSP00000362441:p.Ser384Arg					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S346R	p.S384R	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1366	-			384					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.1152T>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	a	2.493	-0.316970	0.05386	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92199	-2.98;-2.99	4.94	3.81	0.43845	.	0.449855	0.24443	N	0.038488	D	0.84497	0.5485	L	0.36672	1.1	0.21604	N	0.999628	B;B;B;B	0.28900	0.058;0.227;0.096;0.058	B;B;B;B	0.26864	0.03;0.074;0.067;0.03	T	0.74957	-0.3487	10	0.49607	T	0.09	-2.6729	3.2654	0.06863	0.4921:0.0:0.5079:0.0	.	384;345;346;384	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	R	384;346;340	ENSP00000362441:S384R;ENSP00000378967:S346R	ENSP00000362441:S384R	S	-	3	2	ATRX	76826252	0.001000	0.12720	0.095000	0.20976	0.887000	0.51463	1.237000	0.32695	1.635000	0.50512	0.409000	0.27619	AGT		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		58	165	0	0	0	1	0	58	165				
UNC13C	440279	broad.mit.edu	37	15	54685245	54685245	+	Splice_Site	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:54685245G>C	ENST00000260323.11	+	17	4713		c.e17-1		UNC13C_ENST00000537900.1_Splice_Site|UNC13C_ENST00000545554.1_Splice_Site	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)						exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTGTGAGCAGAGTAAGAAAC	0.373																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.e17-1		unc-13 homolog C (C. elegans)							111.0	107.0	108.0					15																	54685245		1864	4099	5963	SO:0001630	splice_region_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54685245G>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4714-1G>C	15.37:g.54685245G>C						UNC13C_ENST00000537900.1_Splice_Site|UNC13C_ENST00000260323.11_Splice_Site				Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	17	4713	+								Q0P613|Q8ND48|Q96NP3	Splice_Site	SNP	ENST00000260323.11	37		CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024244	0.75390	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.45	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8681	0.57951	0.0793:0.0:0.9207:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC13C	52472537	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	7.603000	0.82811	1.315000	0.45114	0.650000	0.86243	.		0.373	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	Intron	11	41	0	0	0	1	0	11	41				
C11orf63	79864	broad.mit.edu	37	11	122774693	122774693	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:122774693G>C	ENST00000531316.1	+	2	497	c.405G>C	c.(403-405)aaG>aaC	p.K135N	C11orf63_ENST00000227349.2_Missense_Mutation_p.K135N|C11orf63_ENST00000307257.6_Missense_Mutation_p.K135N			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	135					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGAAGAGTAAGAAGGAGGAAG	0.507																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(403-405)aaG>aaC		chromosome 11 open reading frame 63							130.0	144.0	139.0					11																	122774693		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122774693G>C	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.405G>C	11.37:g.122774693G>C	ENSP00000431669:p.Lys135Asn					C11orf63_ENST00000531316.1_Missense_Mutation_p.K135N|C11orf63_ENST00000307257.6_Missense_Mutation_p.K135N	p.K135N	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	702	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	135					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.405G>C	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	7.568	0.666162	0.14710	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.42131	0.98;0.98	5.5	-1.1	0.09872	.	0.165903	0.42294	D	0.000728	T	0.22437	0.0541	L	0.43923	1.385	0.09310	N	1	B;B	0.32653	0.379;0.208	B;B	0.27170	0.077;0.068	T	0.06552	-1.0820	10	0.22109	T	0.4	-20.1832	1.909	0.03283	0.3947:0.1837:0.3119:0.1097	.	135;135	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	N	135	ENSP00000227349:K135N;ENSP00000431669:K135N	ENSP00000227349:K135N	K	+	3	2	C11orf63	122279903	0.060000	0.20803	0.101000	0.21167	0.118000	0.20060	-0.438000	0.06905	0.104000	0.17725	-0.137000	0.14449	AAG		0.507	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		54	140	0	0	0	1	0	54	140				
SH2D3A	10045	broad.mit.edu	37	19	6755042	6755042	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:6755042C>T	ENST00000245908.6	-	5	1050	c.781G>A	c.(781-783)Gag>Aag	p.E261K	SH2D3A_ENST00000437152.3_Missense_Mutation_p.E139K|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	261	Poly-Glu.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCATCCTCCTCGGCCTCCCAC	0.622																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(781-783)Gag>Aag		SH2 domain containing 3A							161.0	184.0	176.0					19																	6755042		2203	4298	6501	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755042C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.781G>A	19.37:g.6755042C>T	ENSP00000245908:p.Glu261Lys					SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.E139K	p.E261K	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	1050	-			261			Poly-Glu.		A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.781G>A	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.228072	0.01518	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.30448	2.54;1.53	4.57	-4.29	0.03721	Ras guanine nucleotide exchange factor, domain (1);	1.535050	0.04606	N	0.399410	T	0.17492	0.0420	L	0.46157	1.445	0.09310	N	1	B;B	0.28760	0.221;0.013	B;B	0.16722	0.016;0.003	T	0.19289	-1.0310	10	0.05959	T	0.93	4.7582	3.3433	0.07126	0.1082:0.4109:0.3129:0.168	.	139;261	B4DRS7;Q9BRG2	.;SH23A_HUMAN	K	261;139	ENSP00000245908:E261K;ENSP00000393303:E139K	ENSP00000245908:E261K	E	-	1	0	SH2D3A	6706042	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.829000	0.01701	-0.249000	0.09569	0.462000	0.41574	GAG		0.622	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		181	128	0	0	0	1	0	181	128				
GRIN2B	2904	broad.mit.edu	37	12	13764668	13764668	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:13764668C>A	ENST00000609686.1	-	8	1980	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	591					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTCTGCCATCAGCGAGGCAC	0.488																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1771-1773)Gat>Tat		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						107.0	106.0	106.0					12																	13764668		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13764668C>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1771G>T	12.37:g.13764668C>A	ENSP00000477455:p.Asp591Tyr						p.D591Y	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			8	1980	-			591					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1771G>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048799	0.93740	.	.	ENSG00000150086	ENST00000279593	T	0.52526	0.66	6.09	6.09	0.99107	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	L	0.36672	1.1	0.80722	D	1	P	0.41978	0.767	P	0.57009	0.811	T	0.57277	-0.7839	10	0.66056	D	0.02	.	20.6949	0.99706	0.0:1.0:0.0:0.0	.	591	Q13224	NMDE2_HUMAN	Y	591	ENSP00000279593:D591Y	ENSP00000279593:D591Y	D	-	1	0	GRIN2B	13655935	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.919000	0.56439	2.899000	0.99337	0.655000	0.94253	GAT		0.488	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			32	46	1	0	1.39806e-14	1	1.48741e-14	32	46				
PCNX	22990	broad.mit.edu	37	14	71511998	71511998	+	Missense_Mutation	SNP	G	G	A	rs201817854		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:71511998G>A	ENST00000304743.2	+	20	4462	c.4016G>A	c.(4015-4017)cGa>cAa	p.R1339Q	PCNX_ENST00000439984.3_Missense_Mutation_p.R1228Q|PCNX_ENST00000238570.5_Missense_Mutation_p.R1339Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1339						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TATGAAGTTCGAAGTAAGTAT	0.343																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4015-4017)cGa>cAa		pecanex homolog (Drosophila)							99.0	91.0	94.0					14																	71511998		2202	4300	6502	SO:0001583	missense	22990					integral to membrane		g.chr14:71511998G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4016G>A	14.37:g.71511998G>A	ENSP00000304192:p.Arg1339Gln					PCNX_ENST00000439984.3_Missense_Mutation_p.R1228Q|PCNX_ENST00000238570.5_Missense_Mutation_p.R1339Q	p.R1339Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	20	4462	+			1339					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4016G>A	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.90|19.90	3.913256|3.913256	0.72983|0.72983	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.10573	.|3.27;3.27;2.86	5.72|5.72	4.83|4.83	0.62350|0.62350	.|.	.|0.121477	.|0.56097	.|N	.|0.000027	T|T	0.26448|0.26448	0.0646|0.0646	M|M	0.81341|0.81341	2.54|2.54	0.58432|0.58432	D|D	0.999993|0.999993	.|B;D;B	.|0.61080	.|0.028;0.989;0.041	.|B;P;B	.|0.52159	.|0.007;0.691;0.005	T|T	0.07028|0.07028	-1.0794|-1.0794	5|10	.|0.51188	.|T	.|0.08	.|.	15.0477|15.0477	0.71841|0.71841	0.0683:0.0:0.9317:0.0|0.0683:0.0:0.9317:0.0	.|.	.|1339;1228;1339	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	K|Q	398|1339;1339;1228	.|ENSP00000304192:R1339Q;ENSP00000238570:R1339Q;ENSP00000396617:R1228Q	.|ENSP00000238570:R1339Q	E|R	+|+	1|2	0|0	PCNX|PCNX	70581751|70581751	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.568000|6.568000	0.73987|0.73987	1.562000|1.562000	0.49601|0.49601	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.343	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		15	49	0	0	0	1	0	15	49				
STAG2	10735	broad.mit.edu	37	X	123197011	123197011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:123197011C>T	ENST00000371160.1	+	19	2067	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	593					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCAGTTGCCTCAGTACTTTGA	0.279																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(1777-1779)Cag>Tag		stromal antigen 2							64.0	62.0	63.0					X																	123197011		2203	4300	6503	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123197011C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1777C>T	X.37:g.123197011C>T	ENSP00000360202:p.Gln593*					STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*	p.Q593*			Q8N3U4	STAG2_HUMAN			19	2067	+			593					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.1777C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	40	8.253080	0.98727	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.58	5.58	0.84498	.	0.119109	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-17.9199	18.5988	0.91240	0.0:1.0:0.0:0.0	.	.	.	.	X	593;524;593;593;593;593	.	ENSP00000218089:Q593X	Q	+	1	0	STAG2	123024692	1.000000	0.71417	0.981000	0.43875	0.985000	0.73830	6.003000	0.70701	2.335000	0.79485	0.544000	0.68410	CAG		0.279	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		4	15	0	0	0	1	0	4	15				
GSG1L	146395	broad.mit.edu	37	16	27895933	27895933	+	Missense_Mutation	SNP	C	C	T	rs373427270		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:27895933C>T	ENST00000447459.2	-	3	508	c.424G>A	c.(424-426)Gag>Aag	p.E142K	GSG1L_ENST00000569166.1_5'Flank|GSG1L_ENST00000380897.3_5'UTR|GSG1L_ENST00000395724.3_Intron|GSG1L_ENST00000380898.2_5'UTR	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	142					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TACAGCACCTCGGAGACCACA	0.577																																						ENST00000447459.2																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(424-426)Gag>Aag		GSG1-like		C	LYS/GLU,	0,4392		0,0,2196	83.0	86.0	85.0		424,	5.3	1.0	16		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-5	GSG1L	NM_001109763.1,NM_144675.2	56,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,	142/332,	27895933	1,12991	2196	4300	6496	SO:0001583	missense	146395					integral to membrane		g.chr16:27895933C>T	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.424G>A	16.37:g.27895933C>T	ENSP00000394954:p.Glu142Lys					GSG1L_ENST00000395724.3_Intron|GSG1L_ENST00000380897.3_5'UTR|GSG1L_ENST00000380898.2_5'UTR	p.E142K	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN			3	508	-			142					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.424G>A	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546658	0.96488	0.0	1.16E-4	ENSG00000169181	ENST00000447459	T	0.37058	1.22	5.26	5.26	0.73747	.	.	.	.	.	T	0.60689	0.2288	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.63184	-0.6694	9	0.66056	D	0.02	.	17.9982	0.89191	0.0:1.0:0.0:0.0	.	142	Q6UXU4	GSG1L_HUMAN	K	142	ENSP00000394954:E142K	ENSP00000394954:E142K	E	-	1	0	GSG1L	27803434	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.770000	0.85390	2.608000	0.88229	0.655000	0.94253	GAG		0.577	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		3	6	0	0	0	1	0	3	6				
ANKRD50	57182	broad.mit.edu	37	4	125590567	125590567	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:125590567T>A	ENST00000504087.1	-	4	4902	c.3865A>T	c.(3865-3867)Agt>Tgt	p.S1289C	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1110C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1289	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GAAGAATTACTTTGTTTCGCT	0.408																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3865-3867)Agt>Tgt		ankyrin repeat domain 50							134.0	143.0	140.0					4																	125590567		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125590567T>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3865A>T	4.37:g.125590567T>A	ENSP00000425658:p.Ser1289Cys					ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1110C	p.S1289C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4902	-			1289			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3865A>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	6.575	0.474394	0.12521	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66638	-0.22;-0.19	4.99	4.99	0.66335	.	0.345734	0.33438	N	0.004912	T	0.47284	0.1437	N	0.08118	0	0.09310	N	1	P	0.34699	0.464	B	0.33042	0.157	T	0.48948	-0.8989	10	0.45353	T	0.12	.	14.8538	0.70319	0.0:0.0:0.0:1.0	.	1289	Q9ULJ7	ANR50_HUMAN	C	1289;1110	ENSP00000425658:S1289C;ENSP00000425355:S1110C	ENSP00000425658:S1289C	S	-	1	0	ANKRD50	125810017	0.951000	0.32395	0.004000	0.12327	0.441000	0.31987	4.481000	0.60250	2.101000	0.63845	0.459000	0.35465	AGT		0.408	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		46	103	0	0	0	1	0	46	103				
HSPA12B	116835	broad.mit.edu	37	20	3726235	3726235	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:3726235C>T	ENST00000254963.2	+	6	694	c.549C>T	c.(547-549)caC>caT	p.H183H	HSPA12B_ENST00000542646.1_Silent_p.H17H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	183							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TCAGGGAGCACGCCCTTCAGG	0.632																																						ENST00000254963.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(547-549)caC>caT		heat shock 70kD protein 12B							64.0	61.0	62.0					20																	3726235		2203	4300	6503	SO:0001819	synonymous_variant	116835						ATP binding	g.chr20:3726235C>T	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.549C>T	20.37:g.3726235C>T						HSPA12B_ENST00000542646.1_Silent_p.H17H	p.H183H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN			6	694	+			183					D3DVX7|Q2TAK3|Q9BR52	Silent	SNP	ENST00000254963.2	37	c.549C>T	CCDS13061.1																																																																																				0.632	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		14	30	0	0	0	1	0	14	30				
ABCG4	64137	broad.mit.edu	37	11	119020798	119020798	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:119020798G>A	ENST00000449422.2	+	2	311	c.123G>A	c.(121-123)gaG>gaA	p.E41E	ABCG4_ENST00000307417.3_Silent_p.E41E|ABCG4_ENST00000531739.1_Silent_p.E41E	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	41					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGAAGGTGGAGAACCACATCA	0.662																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(121-123)gaG>gaA		ATP-binding cassette, sub-family G (WHITE), member 4							69.0	74.0	72.0					11																	119020798		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119020798G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.123G>A	11.37:g.119020798G>A						ABCG4_ENST00000449422.2_Silent_p.E41E|ABCG4_ENST00000531739.1_Silent_p.E41E	p.E41E	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	2	487	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	41					A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.123G>A	CCDS8415.1																																																																																				0.662	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		16	45	0	0	0	1	0	16	45				
MAGEA3	4102	broad.mit.edu	37	X	151935758	151935758	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:151935758C>A	ENST00000393902.3	-	3	976	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	MAGEA3_ENST00000370278.3_Missense_Mutation_p.G137W			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	137	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ACGACACTCCCCAGCATTTCT	0.517																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(409-411)Ggg>Tgg		melanoma antigen family A, 3							145.0	131.0	136.0					X																	151935758		2203	4294	6497	SO:0001583	missense	4102							g.chrX:151935758C>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.409G>T	X.37:g.151935758C>A	ENSP00000377480:p.Gly137Trp					MAGEA3_ENST00000370278.3_Missense_Mutation_p.G137W	p.G137W			P43357	MAGA3_HUMAN			3	976	-	Acute lymphoblastic leukemia(192;6.56e-05)		137			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.409G>T	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	c	10.30	1.312679	0.23908	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.04809	3.55;3.55;3.55	1.42	-2.84	0.05751	.	3.088880	0.00914	N	0.002501	T	0.11580	0.0282	L	0.40543	1.245	0.09310	N	1	D	0.55385	0.971	D	0.67548	0.952	T	0.21690	-1.0238	10	0.87932	D	0	.	2.8931	0.05682	0.0:0.3804:0.2407:0.3789	.	137	P43357	MAGA3_HUMAN	W	137	ENSP00000359301:G137W;ENSP00000377480:G137W;ENSP00000392758:G137W	ENSP00000359301:G137W	G	-	1	0	MAGEA3	151686414	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.419000	0.07071	-1.200000	0.02662	-0.585000	0.04130	GGG		0.517	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		57	160	1	0	4.88506e-25	1	5.27661e-25	57	160				
IFNAR2	3455	broad.mit.edu	37	21	34617295	34617295	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr21:34617295G>A	ENST00000342136.4	+	4	463	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	IFNAR2_ENST00000342101.3_Missense_Mutation_p.R46Q|IFNAR2_ENST00000382264.3_Missense_Mutation_p.R46Q|IFNAR2_ENST00000404220.3_Missense_Mutation_p.R46Q|IFNAR2_ENST00000382241.3_Missense_Mutation_p.R46Q|AP000295.9_ENST00000433395.2_5'Flank|IFNAR2_ENST00000420068.1_Intron|IFNAR2_ENST00000413881.1_5'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	46					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	ATATCATTGCGAAATTTCCGG	0.368																																						ENST00000404220.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(136-138)cGa>cAa		interferon (alpha, beta and omega) receptor 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						164.0	157.0	159.0					21																	34617295		2203	4299	6502	SO:0001583	missense	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34617295G>A		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.137G>A	21.37:g.34617295G>A	ENSP00000343957:p.Arg46Gln					IFNAR2_ENST00000342101.3_Missense_Mutation_p.R46Q|IFNAR2_ENST00000342136.4_Missense_Mutation_p.R46Q|IFNAR2_ENST00000420068.1_Intron|IFNAR2_ENST00000413881.1_5'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.R46Q|IFNAR2_ENST00000382264.3_Missense_Mutation_p.R46Q	p.R46Q			P48551	INAR2_HUMAN			4	466	+			46					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.137G>A	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638831	0.67130	.	.	ENSG00000159110	ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000447980	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	4.81	-2.91	0.05631	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.028750	0.07610	N	0.925214	T	0.74268	0.3694	L	0.47716	1.5	0.09310	N	1	D;D;D	0.63046	0.977;0.992;0.98	P;P;P	0.53062	0.631;0.717;0.509	T	0.68243	-0.5460	10	0.72032	D	0.01	.	10.2093	0.43131	0.7036:0.0:0.2964:0.0	.	46;46;46	P48551-3;P48551;P48551-2	.;INAR2_HUMAN;.	Q	46;46;46;46;46;70	ENSP00000371699:R46Q;ENSP00000384309:R46Q;ENSP00000371676:R46Q;ENSP00000343957:R46Q;ENSP00000343289:R46Q;ENSP00000402311:R70Q	ENSP00000343289:R46Q	R	+	2	0	IFNAR2	33539165	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.931000	0.03967	-0.548000	0.06199	-0.291000	0.09656	CGA		0.368	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			15	54	0	0	0	1	0	15	54				
ARFGEF2	10564	broad.mit.edu	37	20	47592669	47592669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:47592669C>T	ENST00000371917.4	+	14	1891	c.1891C>T	c.(1891-1893)Cag>Tag	p.Q631*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	631					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GACAACTGTTCAGGATGACCC	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(1891-1893)Cag>Tag		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							105.0	77.0	86.0					20																	47592669		2203	4300	6503	SO:0001587	stop_gained	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47592669C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1891C>T	20.37:g.47592669C>T	ENSP00000360985:p.Gln631*						p.Q631*	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		14	1891	+			631					Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	37	c.1891C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	37	6.006413	0.97195	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	.	.	.	5.79	5.79	0.91817	.	0.229184	0.45867	D	0.000329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	.	.	.	X	631	.	ENSP00000360985:Q631X	Q	+	1	0	ARFGEF2	47026076	0.985000	0.35326	0.998000	0.56505	0.606000	0.37113	2.269000	0.43346	2.733000	0.93635	0.655000	0.94253	CAG		0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		9	24	0	0	0	1	0	9	24				
C6orf136	221545	broad.mit.edu	37	6	30618826	30618826	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:30618826A>G	ENST00000376473.5	+	3	689	c.530A>G	c.(529-531)gAa>gGa	p.E177G	C6orf136_ENST00000293604.6_Missense_Mutation_p.E358G|C6orf136_ENST00000528347.2_Missense_Mutation_p.E34G|C6orf136_ENST00000376471.4_Missense_Mutation_p.E43G|AL662800.2_ENST00000583820.1_RNA	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	177						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTGGATGTGGAATTCATCAAT	0.468																																						ENST00000293604.6																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(1072-1074)gAa>gGa		chromosome 6 open reading frame 136							121.0	110.0	114.0					6																	30618826		2203	4300	6503	SO:0001583	missense	221545							g.chr6:30618826A>G	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.530A>G	6.37:g.30618826A>G	ENSP00000365656:p.Glu177Gly					C6orf136_ENST00000376471.4_Missense_Mutation_p.E43G|C6orf136_ENST00000376473.5_Missense_Mutation_p.E177G|C6orf136_ENST00000528347.2_Missense_Mutation_p.E34G	p.E358G	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN			3	1266	+			177					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.1073A>G	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473212	0.84640	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	L	0.54323	1.7	0.54753	D	0.99998	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.79784	0.962;0.973;0.993	T	0.59273	-0.7485	9	0.25106	T	0.35	-8.4685	13.4127	0.60952	1.0:0.0:0.0:0.0	.	43;358;177	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	G	358;177;43;295;34	.	ENSP00000293604:E358G	E	+	2	0	C6orf136	30726805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.789000	0.69029	2.153000	0.67306	0.459000	0.35465	GAA		0.468	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		26	73	0	0	0	1	0	26	73				
ALPK2	115701	broad.mit.edu	37	18	56196374	56196374	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr18:56196374G>C	ENST00000361673.3	-	6	5663	c.5450C>G	c.(5449-5451)tCt>tGt	p.S1817C		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1817	Ig-like 2.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCAGATAGTAGAATCTTCATG	0.388																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(5449-5451)tCt>tGt		alpha-kinase 2							153.0	141.0	145.0					18																	56196374		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56196374G>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5450C>G	18.37:g.56196374G>C	ENSP00000354991:p.Ser1817Cys						p.S1817C	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			6	5663	-			1817			Ig-like 2.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5450C>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922082	0.73213	.	.	ENSG00000198796	ENST00000361673	T	0.67345	-0.26	5.44	5.44	0.79542	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.82944	0.5147	M	0.79475	2.455	0.43137	D	0.994886	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85118	0.0967	10	0.87932	D	0	-17.4632	18.855	0.92247	0.0:0.0:1.0:0.0	.	1812;1817	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	C	1817	ENSP00000354991:S1817C	ENSP00000354991:S1817C	S	-	2	0	ALPK2	54347354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.212000	0.72188	2.549000	0.85964	0.655000	0.94253	TCT		0.388	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		22	51	0	0	0	1	0	22	51				
SOCS5	9655	broad.mit.edu	37	2	46987083	46987083	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:46987083C>T	ENST00000306503.5	+	2	1586	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F	SOCS5_ENST00000394861.2_Missense_Mutation_p.L472F	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	472	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGAACCATTGCTTACTATATC	0.443																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1414-1416)Ctt>Ttt		suppressor of cytokine signaling 5							105.0	99.0	101.0					2																	46987083		2203	4300	6503	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46987083C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1414C>T	2.37:g.46987083C>T	ENSP00000305133:p.Leu472Phe					SOCS5_ENST00000394861.2_Missense_Mutation_p.L472F	p.L472F	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1586	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	472			SH2.|SOCS box.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1414C>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914756	0.72983	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.39997	1.05;1.05	5.43	5.43	0.79202	SOCS protein, C-terminal (1);SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.71736	0.3375	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76429	-0.2962	10	0.72032	D	0.01	-19.5225	19.0206	0.92912	0.0:1.0:0.0:0.0	.	472	O75159	SOCS5_HUMAN	F	472	ENSP00000305133:L472F;ENSP00000378330:L472F	ENSP00000305133:L472F	L	+	1	0	SOCS5	46840587	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	CTT		0.443	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			30	76	0	0	0	1	0	30	76				
GLP2R	9340	broad.mit.edu	37	17	9792818	9792818	+	Silent	SNP	C	C	T	rs139614327		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:9792818C>T	ENST00000262441.5	+	13	1971	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G	GLP2R_ENST00000574745.1_Silent_p.G306G	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	486					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	AAGGAGATGGCGCTGAGAAGC	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19221	0.0		0.0	False		,,,				2504	0.0					ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(1456-1458)ggC>ggT		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)	C		1,4405	2.1+/-5.4	0,1,2202	58.0	58.0	58.0		1458	-5.3	0.0	17	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	GLP2R	NM_004246.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		486/554	9792818	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9792818C>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1458C>T	17.37:g.9792818C>T						GLP2R_ENST00000574745.1_Silent_p.G306G	p.G486G	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			13	1971	+			486					Q4VAT3	Silent	SNP	ENST00000262441.5	37	c.1458C>T	CCDS11150.1																																																																																				0.607	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			13	53	0	0	0	1	0	13	53				
SNF8	11267	broad.mit.edu	37	17	47007863	47007863	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:47007863C>G	ENST00000502492.1	-	8	1133	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	AC091133.1_ENST00000435491.1_RNA|SNF8_ENST00000514089.1_5'UTR|SNF8_ENST00000290330.3_Missense_Mutation_p.E250Q			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	251					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						CTGGCCTCCTCAGCTGTAATC	0.592																																						ENST00000502492.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(751-753)Gag>Cag		SNF8, ESCRT-II complex subunit							26.0	25.0	25.0					17																	47007863		2203	4300	6503	SO:0001583	missense	11267				cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding	g.chr17:47007863C>G	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.751G>C	17.37:g.47007863C>G	ENSP00000421380:p.Glu251Gln					SNF8_ENST00000290330.3_Missense_Mutation_p.E250Q|SNF8_ENST00000514089.1_5'UTR	p.E251Q			Q96H20	SNF8_HUMAN			8	1133	-			251					Q8IXY3|Q9UN50	Missense_Mutation	SNP	ENST00000502492.1	37	c.751G>C	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414837	0.83449	.	.	ENSG00000159210	ENST00000502492;ENST00000290330	.	.	.	5.87	5.87	0.94306	.	0.096709	0.64402	D	0.000001	T	0.54208	0.1844	N	0.19112	0.55	0.80722	D	1	B;B	0.28850	0.225;0.144	B;B	0.31946	0.138;0.065	T	0.54964	-0.8214	9	0.87932	D	0	-21.2329	20.1777	0.98189	0.0:1.0:0.0:0.0	.	250;251	Q96H20-2;Q96H20	.;SNF8_HUMAN	Q	251;250	.	ENSP00000290330:E250Q	E	-	1	0	SNF8	44362862	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.592000	0.82676	2.941000	0.99782	0.655000	0.94253	GAG		0.592	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241		3	25	0	0	0	1	0	3	25				
ARHGEF1	9138	broad.mit.edu	37	19	42406036	42406036	+	Splice_Site	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:42406036G>C	ENST00000354532.3	+	15	1415		c.e15-1		ARHGEF1_ENST00000337665.4_Splice_Site|ARHGEF1_ENST00000378152.4_Splice_Site|ARHGEF1_ENST00000347545.4_Splice_Site|ARHGEF1_ENST00000599846.1_Splice_Site	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1						cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGGCCCTGCAGAGCTGCTGGT	0.617																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.e16-1		Rho guanine nucleotide exchange factor (GEF) 1							41.0	35.0	37.0					19																	42406036		2203	4300	6503	SO:0001630	splice_region_variant	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42406036G>C	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1268-1G>C	19.37:g.42406036G>C						ARHGEF1_ENST00000337665.4_Splice_Site|ARHGEF1_ENST00000347545.4_Splice_Site|ARHGEF1_ENST00000378152.4_Splice_Site|ARHGEF1_ENST00000354532.3_Splice_Site				Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	16	1560	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)						O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Splice_Site	SNP	ENST00000354532.3	37		CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042853	0.55003	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7616	0.78087	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF1	47097876	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	9.260000	0.95568	2.388000	0.81334	0.456000	0.33151	.		0.617	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002	Intron	7	24	0	0	0	1	0	7	24				
POLK	51426	broad.mit.edu	37	5	74892767	74892767	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:74892767C>T	ENST00000241436.4	+	13	2421	c.2249C>T	c.(2248-2250)tCa>tTa	p.S750L	POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000380481.3_Missense_Mutation_p.S660L|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.S552L|POLK_ENST00000352007.5_Missense_Mutation_p.S552L	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	750					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TCTACTGTTTCATTGGAAAAC	0.373								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(2248-2250)tCa>tTa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							89.0	95.0	93.0					5																	74892767		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892767C>T	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.2249C>T	5.37:g.74892767C>T	ENSP00000241436:p.Ser750Leu					POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Missense_Mutation_p.S552L|POLK_ENST00000352007.5_Missense_Mutation_p.S552L|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.S660L	p.S750L	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	2421	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	750					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.2249C>T	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810413	0.32053	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.60548	1.08;0.18;0.18;1.07	5.67	4.81	0.61882	.	0.415946	0.17806	N	0.161385	T	0.50137	0.1598	L	0.48642	1.525	0.23314	N	0.997927	B;B	0.25955	0.082;0.138	B;B	0.25140	0.058;0.058	T	0.50709	-0.8796	10	0.87932	D	0	-3.2964	9.6673	0.39992	0.1399:0.7892:0.0:0.0709	.	552;750	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	L	750;552;552;660	ENSP00000241436:S750L;ENSP00000342256:S552L;ENSP00000426853:S552L;ENSP00000369848:S660L	ENSP00000241436:S750L	S	+	2	0	POLK	74928523	0.025000	0.19082	0.128000	0.21923	0.082000	0.17680	1.783000	0.38664	1.406000	0.46857	0.650000	0.86243	TCA		0.373	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		12	38	0	0	0	1	0	12	38				
ZNF676	163223	broad.mit.edu	37	19	22362838	22362838	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:22362838A>T	ENST00000397121.2	-	3	1998	c.1681T>A	c.(1681-1683)Tac>Aac	p.Y561N		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCACATTTGTAGGGTTTCTCT	0.383																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1681-1683)Tac>Aac		zinc finger protein 676							60.0	63.0	62.0					19																	22362838		2109	4253	6362	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22362838A>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1681T>A	19.37:g.22362838A>T	ENSP00000380310:p.Tyr561Asn						p.Y561N	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1998	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	561					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1681T>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.54	2.269019	0.40095	.	.	ENSG00000196109	ENST00000397121	T	0.25749	1.78	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46268	0.1384	M	0.76938	2.355	0.30658	N	0.754739	D	0.89917	1.0	D	0.85130	0.997	T	0.45673	-0.9245	9	0.72032	D	0.01	.	6.5745	0.22557	1.0:0.0:0.0:0.0	.	561	Q8N7Q3	ZN676_HUMAN	N	561	ENSP00000380310:Y561N	ENSP00000380310:Y561N	Y	-	1	0	ZNF676	22154678	0.004000	0.15560	0.030000	0.17652	0.030000	0.12068	2.061000	0.41403	0.156000	0.19299	0.155000	0.16302	TAC		0.383	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		12	28	0	0	0	1	0	12	28				
SAMM50	25813	broad.mit.edu	37	22	44386275	44386275	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:44386275G>A	ENST00000350028.4	+	14	1510	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	SAMM50_ENST00000396202.3_Silent_p.Q241Q	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	451					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGGGAGTACAGACAGGCGACA	0.488																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1351-1353)caG>caA		SAMM50 sorting and assembly machinery component							140.0	105.0	117.0					22																	44386275		2203	4300	6503	SO:0001819	synonymous_variant	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44386275G>A	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1353G>A	22.37:g.44386275G>A						SAMM50_ENST00000396202.3_Silent_p.Q241Q	p.Q451Q	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			14	1510	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	451					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	c.1353G>A	CCDS14055.1																																																																																				0.488	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		19	65	0	0	0	1	0	19	65				
PHLDB1	23187	broad.mit.edu	37	11	118530540	118530540	+	IGR	SNP	C	C	G	rs560799914		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:118530540C>G	ENST00000361417.2	+	0	5753				TREH_ENST00000530256.1_Missense_Mutation_p.E289D|TREH_ENST00000264029.4_Missense_Mutation_p.E412D|TREH_ENST00000397925.1_Missense_Mutation_p.E381D|TREH_ENST00000525958.1_Missense_Mutation_p.E381D|TREH_ENST00000529101.1_Missense_Mutation_p.E412D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATGGGTAAAACTCCCGGTTTT	0.587											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000529101.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1234-1236)gaG>gaC		trehalase (brush-border membrane glycoprotein)							18.0	19.0	19.0					11																	118530540		1963	4154	6117	SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118530540C>G		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118530540C>G			OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489	TREH_ENST00000525958.1_Missense_Mutation_p.E381D|TREH_ENST00000530256.1_Missense_Mutation_p.E289D|TREH_ENST00000264029.4_Missense_Mutation_p.E412D|TREH_ENST00000397925.1_Missense_Mutation_p.E381D	p.E412D			O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	11	1281	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	412					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1236G>C	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876398	0.33162	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.82	-0.835	0.10775	Six-hairpin glycosidase-like (1);	0.416855	0.28031	N	0.016871	T	0.17408	0.0418	.	.	.	0.28481	N	0.914975	B;B;B	0.22746	0.074;0.004;0.001	B;B;B	0.23150	0.044;0.017;0.017	T	0.07868	-1.0750	9	0.15952	T	0.53	-28.7258	1.4508	0.02374	0.1208:0.3555:0.2356:0.288	.	381;289;412	E9PNA2;E9PPK1;O43280	.;.;TREA_HUMAN	D	412;289;412;289;381;381	ENSP00000435095:E412D;ENSP00000432640:E289D;ENSP00000264029:E412D;ENSP00000432853:E381D;ENSP00000381020:E381D	ENSP00000264029:E412D	E	-	3	2	TREH	118035750	0.026000	0.19158	0.950000	0.38849	0.320000	0.28249	-0.534000	0.06150	0.119000	0.18210	-0.122000	0.15005	GAG		0.587	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		2	1	0	0	0	1	0	2	1				
HLA-A	3105	broad.mit.edu	37	6	29910589	29910590	+	Frame_Shift_Ins	INS	-	-	C	rs61759956		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:29910589_29910590insC	ENST00000396634.1	+	4	470_471	c.129_130insC	c.(130-132)cccfs	p.P44fs	HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.P44fs|HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.P44fs|HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.P44fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	44	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCCGCGGGGAGCCCCGCTTCAT	0.698									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			1	Deletion - Frameshift(1)	p.R41fs*31(1)	ovary(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(127-132)gacccgfs		major histocompatibility complex, class I, A																																				SO:0001589	frameshift_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910589_29910590insC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.133dupC	6.37:g.29910593_29910593dupC	ENSP00000379873:p.Pro44fs	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.DP43fs|HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.DP43fs|HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.DP43fs	p.DP43fs			P30443	1A01_HUMAN			4	470_471	+			43			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Ins	INS	ENST00000396634.1	37	c.129_130insC	CCDS34373.1																																																																																				0.698	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		11	21						11	21	---	---	---	---
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	GCC	-	rs541688197	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:107956280_107956282delGCC	ENST00000317357.5	+	6	2891_2893	c.2232_2234delGCC	c.(2230-2235)cagccg>cag	p.P751del	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCCGAGCAgccgccgccgccg	0.749																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(2230-2235)cag>ca		sine oculis binding protein homolog (Drosophila)																																				SO:0001651	inframe_deletion	55084						metal ion binding	g.chr6:107956280_107956282delGCC	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2232_2234delGCC	6.37:g.107956289_107956291delGCC	ENSP00000318900:p.Pro751del					SOBP_ENST00000494935.1_3'UTR	p.QP744del	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2891_2893	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	744			Pro-rich.			In_Frame_Del	DEL	ENST00000317357.5	37	c.2232_2234delGCC	CCDS43488.1																																																																																				0.749	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		2	4						2	4	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-	rs367732188		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)		p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572																																						ENST00000423186.1																			2	Deletion - Frameshift(2)	p.E82fs*32(2)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5												96,356		38,20,168							0.0			1	208,1036		88,32,502	no	frameshift	STAG3L2	NM_001025202.2		126,52,670	A1A1,A1R,RR		16.7203,21.2389,17.9245				304,1392						442582					nucleus	binding	g.chr7:74300557_74300564delAGAGCTCC			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300557_74300564delAGAGCTCC										P0CL84	ST3L2_HUMAN			0	573_580	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.572	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		6	7						6	7	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100345610	100345611	+	RNA	INS	-	-	AA	rs3884114		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:100345610_100345611insAA	ENST00000348028.3	+	0	1188				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			gcaagactctgaaaaaaaaaaa	0.505																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345610_100345611insAA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345619_100345620dupAA						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1171	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	3						3	3	---	---	---	---
RGS20	8601	broad.mit.edu	37	8	54792096	54792097	+	Frame_Shift_Ins	INS	-	-	C	rs35570213		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:54792096_54792097insC	ENST00000297313.3	+	2	536_537	c.444_445insC	c.(445-447)cccfs	p.P149fs	RGS20_ENST00000344277.6_Intron|RGS20_ENST00000276500.4_5'Flank|RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000522225.1_5'Flank	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	149					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GTCCGCTGAGGCCCCCCCATCC	0.733																																						ENST00000297313.3																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(442-447)agccccfs		regulator of G-protein signaling 20																																				SO:0001589	frameshift_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54792096_54792097insC	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.451dupC	8.37:g.54792103_54792103dupC	ENSP00000297313:p.Pro149fs					RGS20_ENST00000344277.6_Intron	p.SP148fs	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		2	536_537	+			148					Q96BG9	Frame_Shift_Ins	INS	ENST00000297313.3	37	c.444_445insC	CCDS6155.1																																																																																				0.733	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			2	4						2	4	---	---	---	---
FOSL1	8061	broad.mit.edu	37	11	65660543	65660543	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:65660543delA	ENST00000312562.2	-	4	816	c.630delT	c.(628-630)cttfs	p.L210fs	FOSL1_ENST00000531493.1_Frame_Shift_Del_p.L174fs|FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000448083.2_Frame_Shift_Del_p.L108fs	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	210					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		CCTCAGGTTCAAGCACAGGCC	0.627																																						ENST00000312562.2																			0				breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(628-630)ctfs		FOS-like antigen 1							51.0	45.0	47.0					11																	65660543		2201	4296	6497	SO:0001589	frameshift_variant	8061				cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:65660543delA	BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"""basic leucine zipper proteins"""	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.630delT	11.37:g.65660543delA	ENSP00000310170:p.Leu210fs					FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000448083.2_Frame_Shift_Del_p.L108fs|FOSL1_ENST00000531493.1_Frame_Shift_Del_p.L174fs	p.L210fs	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	4	816	-			210					B4DR11|Q6FG51	Frame_Shift_Del	DEL	ENST00000312562.2	37	c.630delT	CCDS8121.1																																																																																				0.627	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	NM_005438		11	34						11	34	---	---	---	---
RIN1	9610	broad.mit.edu	37	11	66101086	66101086	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:66101086delG	ENST00000311320.4	-	8	1761	c.1635delC	c.(1633-1635)ctcfs	p.L545fs	RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Frame_Shift_Del_p.L440fs|RIN1_ENST00000530056.1_Frame_Shift_Del_p.L379fs	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	545	Ras and 14-3-3 protein binding region.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGGCCAAGACGAGGCTCAGCA	0.627																																						ENST00000311320.4																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(1633-1635)ctfs		Ras and Rab interactor 1							52.0	53.0	53.0					11																	66101086		2200	4295	6495	SO:0001589	frameshift_variant	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66101086delG	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1635delC	11.37:g.66101086delG	ENSP00000310406:p.Leu545fs					RIN1_ENST00000530056.1_Frame_Shift_Del_p.L379fs|RIN1_ENST00000424433.2_Frame_Shift_Del_p.L440fs	p.L545fs	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN			8	1761	-			545			Ras and 14-3-3 protein binding region.|VPS9.		O15010|Q00427|Q96CC8	Frame_Shift_Del	DEL	ENST00000311320.4	37	c.1635delC	CCDS31614.1																																																																																				0.627	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		17	34						17	34	---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56716916	56716917	+	Frame_Shift_Del	DEL	GA	GA	-	rs374183347		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716916_56716917delGA	ENST00000425394.2	-	17	2810_2811	c.2434_2435delTC	c.(2434-2436)tccfs	p.S812fs	PAN2_ENST00000257931.5_Frame_Shift_Del_p.S811fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.S808fs|PAN2_ENST00000548043.1_Frame_Shift_Del_p.S812fs	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CATGCGAATGGAGAAAGGAAGC	0.48																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2434-2436)cfs		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56716916_56716917delGA	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2434_2435delTC	12.37:g.56716918_56716919delGA	ENSP00000401721:p.Ser812fs					PAN2_ENST00000257931.5_Frame_Shift_Del_p.S811fs|PAN2_ENST00000548043.1_Frame_Shift_Del_p.S812fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.S808fs	p.S812fs	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			17	2810_2811	-			812						Frame_Shift_Del	DEL	ENST00000425394.2	37	c.2434_2435delTC	CCDS44922.1																																																																																				0.480	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		27	99						27	99	---	---	---	---
LRRC75A	388341	broad.mit.edu	37	17	16344167	16344167	+	IGR	DEL	A	A	-	rs112317984|rs555182592	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:16344167delA	ENST00000409083.3	-	0	2656				C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581913.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						actccatctcaaaaaaaaaaa	0.413																																						ENST00000475953.1																			0																																																	SO:0001628	intergenic_variant	125144							g.chr17:16344167delA																													17.37:g.16344167delA						C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000487066.1_RNA		NR_027667.1						0	483	+									RNA	DEL	ENST00000409083.3	37		CCDS11178.2																																																																																				0.413	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			3	3						3	3	---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1109414	1109420	+	Frame_Shift_Del	DEL	ACCGCGG	ACCGCGG	-			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:1109414_1109420delACCGCGG	ENST00000361757.3	-	29	3456_3462	c.3219_3225delCCGCGGT	c.(3217-3225)gtccgcggtfs	p.VRG1073fs	SBNO2_ENST00000438103.2_Frame_Shift_Del_p.VRG1016fs|SBNO2_ENST00000587024.1_Frame_Shift_Del_p.VRG1063fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1073					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTTGTTACCGCGGACCTGCGGAG	0.715																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(3217-3225)gtfs		strawberry notch homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1109414_1109420delACCGCGG	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3219_3225delCCGCGGT	19.37:g.1109414_1109420delACCGCGG	ENSP00000354733:p.Val1073fs					SBNO2_ENST00000587024.1_Frame_Shift_Del_p.VRG1063fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.VRG1016fs	p.VRG1073fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	29	3456_3462	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	1073					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Frame_Shift_Del	DEL	ENST00000361757.3	37	c.3219_3225delCCGCGGT	CCDS45894.1																																																																																				0.715	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		6	1						6	1	---	---	---	---
