#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
PRDM16	63976	broad.mit.edu	37	1	3334507	3334507	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:3334507C>T	ENST00000270722.5	+	11	2856	c.2807C>T	c.(2806-2808)cCc>cTc	p.P936L	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.P937L|PRDM16_ENST00000378398.3_Missense_Mutation_p.P936L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P936L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P935L|PRDM16_ENST00000378391.2_Missense_Mutation_p.P936L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P935L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	936	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.P935L(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGTCCCCACCCCCAACGCTC	0.657			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NaN		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(2806-2808)CCC>CTC		PR domain containing 16 isoform 1							38.0	43.0	41.0					1																	3334507		1895	4107	6002	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3334507C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2807C>T	1.37:g.3334507C>T	ENSP00000270722:p.Pro936Leu					PRDM16_uc001akc.2_Missense_Mutation_p.P935L|PRDM16_uc001akd.2_Missense_Mutation_p.P935L|PRDM16_uc001ake.2_Missense_Mutation_p.P936L|PRDM16_uc009vlh.2_Missense_Mutation_p.P636L	p.P936L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	11	2887	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	936			Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.2807C>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718468	0.68844	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.08370	3.11;3.13;3.15;3.15;3.16;3.11;3.17;3.11;3.1	4.59	4.59	0.56863	.	0.000000	0.50627	D	0.000101	T	0.26882	0.0658	L	0.59436	1.845	0.80722	D	1	D;B;P;B	0.89917	1.0;0.002;0.854;0.001	D;B;B;B	0.85130	0.997;0.004;0.419;0.002	T	0.01583	-1.1319	10	0.72032	D	0.01	.	17.7742	0.88502	0.0:1.0:0.0:0.0	.	936;936;935;935	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	L	937;936;935;935;936;936;936;752;752;744	ENSP00000426975:P937L;ENSP00000367651:P936L;ENSP00000407968:P935L;ENSP00000405253:P935L;ENSP00000367643:P936L;ENSP00000421400:P936L;ENSP00000270722:P936L;ENSP00000422504:P752L;ENSP00000425796:P744L	ENSP00000270722:P936L	P	+	2	0	PRDM16	3324367	1.000000	0.71417	0.997000	0.53966	0.898000	0.52572	7.365000	0.79537	2.286000	0.76751	0.563000	0.77884	CCC		0.657	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3		NM_022114		21	36	0	0	0	0.021523	0	21	36		
NBPF1	55672	broad.mit.edu	37	1	16907273	16907273	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:16907273C>T	ENST00000430580.2	-	16	2445	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	520	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGACATTCATCATGAGAGGAT	0.463																																						uc009vos.1		NaN																	0					0						c.(1558-1560)GAT>AAT		hypothetical protein LOC55672							924.0	939.0	934.0					1																	16907273		2202	4298	6500	SO:0001583	missense	55672					cytoplasm		g.chr1:16907273C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1558G>A	1.37:g.16907273C>T	ENSP00000474456:p.Asp520Asn					NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.D249N	p.D520N	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	16	2446	-			520			NBPF 2.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.1558G>A																																																																																					0.463	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3		NM_017940		82	652	0	0	0	0.01441	0	82	652		
OSCP1	127700	broad.mit.edu	37	1	36904449	36904449	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:36904449G>C	ENST00000356637.5	-	3	268	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E	OSCP1_ENST00000235532.5_Missense_Mutation_p.Q59E|OSCP1_ENST00000433045.2_Missense_Mutation_p.Q14E|OSCP1_ENST00000354267.3_Missense_Mutation_p.Q59E|OSCP1_ENST00000315643.9_Missense_Mutation_p.Q69E			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	69					transport (GO:0006810)	plasma membrane (GO:0005886)		p.Q59E(1)|p.Q69E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TAGAGCTCTTGAGGCTTGAAT	0.468																																						uc001cap.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(205-207)CAA>GAA		oxidored-nitro domain-containing protein isoform							99.0	97.0	98.0					1																	36904449		2203	4300	6503	SO:0001583	missense	127700				transport	basal plasma membrane		g.chr1:36904449G>C		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.205C>G	1.37:g.36904449G>C	ENSP00000349052:p.Gln69Glu					OSCP1_uc001caq.2_Missense_Mutation_p.Q59E|OSCP1_uc001car.2_Missense_Mutation_p.Q59E	p.Q69E	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN			3	287	-			69					A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37	c.205C>G		.	.	.	.	.	.	.	.	.	.	G	26.9	4.785460	0.90282	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643;ENST00000354267	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	M	0.75085	2.285	0.80722	D	1	P;D;D	0.56746	0.938;0.972;0.977	P;P;D	0.65323	0.664;0.891;0.934	T	0.56691	-0.7937	10	0.72032	D	0.01	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	59;59;69	Q8WVF1-4;Q8WVF1-3;Q8WVF1	.;.;OSCP1_HUMAN	E	59;69;14;29;69;59	ENSP00000235532:Q59E;ENSP00000349052:Q69E;ENSP00000390820:Q14E;ENSP00000396417:Q29E;ENSP00000314541:Q69E;ENSP00000346216:Q59E	ENSP00000235532:Q59E	Q	-	1	0	OSCP1	36677036	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CAA		0.468	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1		NM_145047		15	50	0	0	0	0.020292	0	15	50		
DISP1	84976	broad.mit.edu	37	1	223178660	223178660	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:223178660G>C	ENST00000284476.6	+	8	4085	c.3921G>C	c.(3919-3921)caG>caC	p.Q1307H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1307					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.Q1307H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCTTTGTCCAGATCCAAAACG	0.577																																						uc001hnu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3919-3921)CAG>CAC		dispatched A							91.0	83.0	86.0					1																	223178660		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178660G>C	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3921G>C	1.37:g.223178660G>C	ENSP00000284476:p.Gln1307His						p.Q1307H	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4068	+			1307					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.3921G>C	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521517	0.27211	.	.	ENSG00000154309	ENST00000284476	D	0.92299	-3.01	5.95	0.932	0.19466	.	0.319818	0.31760	N	0.007112	T	0.78660	0.4318	N	0.12182	0.205	0.25605	N	0.986557	B	0.02656	0.0	B	0.04013	0.001	T	0.63668	-0.6585	10	0.27785	T	0.31	-11.4151	2.5978	0.04858	0.1315:0.1566:0.4921:0.2198	.	1307	Q96F81	DISP1_HUMAN	H	1307	ENSP00000284476:Q1307H	ENSP00000284476:Q1307H	Q	+	3	2	DISP1	221245283	0.010000	0.17322	0.905000	0.35620	0.774000	0.43823	0.270000	0.18607	0.426000	0.26116	0.655000	0.94253	CAG		0.577	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1		NM_032890		18	87	0	0	0	0.012319	0	18	87		
CFAP70	118491	broad.mit.edu	37	10	75051185	75051185	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:75051185G>C	ENST00000310715.3	-	20	2368	c.2248C>G	c.(2248-2250)Caa>Gaa	p.Q750E	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.Q219E|TTC18_ENST00000394865.1_Missense_Mutation_p.Q750E|TTC18_ENST00000401621.2_Missense_Mutation_p.Q750E	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		750						extracellular vesicular exosome (GO:0070062)		p.Q750E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCATTGTTTTGAATTTCATAG	0.363																																						uc009xrc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(2248-2250)CAA>GAA		tetratricopeptide repeat domain 18							100.0	95.0	97.0					10																	75051185		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75051185G>C																												ENST00000310715.3:c.2248C>G	10.37:g.75051185G>C	ENSP00000310829:p.Gln750Glu					TTC18_uc001jty.2_Missense_Mutation_p.Q750E|TTC18_uc001jtv.3_5'UTR|TTC18_uc001jtw.3_5'UTR|TTC18_uc001jtx.2_Missense_Mutation_p.Q131E	p.Q750E	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			20	2369	-	Prostate(51;0.0119)		750					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.2248C>G	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995048	0.54041	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.32	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.91026	0.7177	M	0.71581	2.175	0.58432	D	0.999991	B	0.33103	0.397	B	0.28011	0.085	D	0.88687	0.3206	10	0.27082	T	0.32	-0.9648	13.3559	0.60627	0.0:0.0:0.8409:0.1591	.	750	Q5T0N1	TTC18_HUMAN	E	750;750;750;157;750	ENSP00000310829:Q750E;ENSP00000384479:Q750E;ENSP00000409527:Q157E;ENSP00000378334:Q750E	ENSP00000310829:Q750E	Q	-	1	0	TTC18	74721191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.442000	0.66575	1.351000	0.45789	0.591000	0.81541	CAA		0.363	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					9	61	0	0	0	0.006214	0	9	61		
VDAC2	7417	broad.mit.edu	37	10	76980680	76980680	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:76980680A>C	ENST00000332211.6	+	7	749	c.536A>C	c.(535-537)aAc>aCc	p.N179T	VDAC2_ENST00000535553.1_Missense_Mutation_p.N140T|VDAC2_ENST00000543351.1_Missense_Mutation_p.N179T|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000313132.4_Missense_Mutation_p.N194T	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	179					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)	p.N179T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	ACAAGGAATAACTTTGCAGTG	0.473																																						uc001jwz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|ovary(1)	3						c.(535-537)AAC>ACC		voltage-dependent anion channel 2	Dihydroxyaluminium(DB01375)						68.0	69.0	68.0					10																	76980680		2203	4297	6500	SO:0001583	missense	7417					mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr10:76980680A>C	BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"""Voltage-dependent anion channels"""	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.536A>C	10.37:g.76980680A>C	ENSP00000361686:p.Asn179Thr					VDAC2_uc010qld.1_Missense_Mutation_p.N140T|VDAC2_uc001jxa.2_Missense_Mutation_p.N194T|VDAC2_uc010qle.1_Missense_Mutation_p.N140T	p.N179T	NM_003375	NP_003366	P45880	VDAC2_HUMAN			7	695	+	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		179			Beta stranded; (By similarity).		Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	ENST00000332211.6	37	c.536A>C	CCDS7348.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589567	0.86851	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000535553;ENST00000313132;ENST00000447677	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	H	0.94734	3.575	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.974	D;D;D	0.72982	0.979;0.964;0.933	T	0.81733	-0.0798	10	0.62326	D	0.03	.	15.5739	0.76359	1.0:0.0:0.0:0.0	.	140;194;179	B4DKM5;P45880-1;P45880	.;.;VDAC2_HUMAN	T	179;179;179;179;140;194;179	ENSP00000298468:N179T;ENSP00000443092:N179T;ENSP00000344876:N179T;ENSP00000361686:N179T;ENSP00000445901:N140T;ENSP00000361635:N194T;ENSP00000401492:N179T	ENSP00000298468:N179T	N	+	2	0	VDAC2	76650686	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.207000	0.95064	2.093000	0.63338	0.460000	0.39030	AAC		0.473	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048792.1		NM_003375		11	55	0	0	0	0.008291	0	11	55		
IDE	3416	broad.mit.edu	37	10	94269887	94269887	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:94269887T>G	ENST00000265986.6	-	6	873	c.817A>C	c.(817-819)Aag>Cag	p.K273Q		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	273					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.K273Q(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GAAAATAACTTTACCACCAGA	0.343																																						uc001kia.2		NaN																	2	Substitution - Missense(2)	p.K273Q(1)	urinary_tract(1)|ovary(1)	ovary(2)|central_nervous_system(1)	3						c.(817-819)AAG>CAG		insulin-degrading enzyme isoform 1 precursor	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						106.0	109.0	108.0					10																	94269887		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94269887T>G	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.817A>C	10.37:g.94269887T>G	ENSP00000265986:p.Lys273Gln						p.K273Q	NM_004969	NP_004960	P14735	IDE_HUMAN			6	893	-			273					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.817A>C	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.788132	0.49997	.	.	ENSG00000119912	ENST00000265986	T	0.10573	2.86	5.6	5.6	0.85130	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.107665	0.64402	D	0.000008	T	0.08492	0.0211	N	0.20401	0.57	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22452	-1.0216	10	0.34782	T	0.22	-11.5872	14.029	0.64604	0.0:0.0:0.0:1.0	.	273	P14735	IDE_HUMAN	Q	273	ENSP00000265986:K273Q	ENSP00000265986:K273Q	K	-	1	0	IDE	94259867	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.291000	0.72719	2.143000	0.66587	0.460000	0.39030	AAG		0.343	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1		NM_004969		24	84	0	0	0	0.004656	0	24	84		
CYP2C9	1559	broad.mit.edu	37	10	96707610	96707610	+	Missense_Mutation	SNP	C	C	T	rs150435881		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:96707610C>T	ENST00000260682.6	+	4	568	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	186					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.R186C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTCCATAAACGTTTTGATTA	0.373																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(2)	6						c.(556-558)CGT>TGT		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	C	CYS/ARG	2,4404		0,2,2201	122.0	122.0	122.0		556	1.6	0.7	10	dbSNP_134	122	0,8600		0,0,4300	no	missense	CYP2C9	NM_000771.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	186/491	96707610	2,13004	2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96707610C>T	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.556C>T	10.37:g.96707610C>T	ENSP00000260682:p.Arg186Cys					CYP2C9_uc009xut.2_Missense_Mutation_p.R186C	p.R186C	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	4	581	+		Colorectal(252;0.0902)	186					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.556C>T	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	17.15	3.315179	0.60524	4.54E-4	0.0	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.14391	2.51	3.55	1.59	0.23543	.	0.000000	0.64402	U	0.000001	T	0.35682	0.0940	M	0.93594	3.435	0.46874	D	0.999236	D;D	0.67145	0.996;0.996	P;P	0.55999	0.789;0.789	T	0.33343	-0.9872	10	0.72032	D	0.01	.	8.4285	0.32744	0.0:0.8191:0.0:0.1809	.	186;186	Q5VX92;P11712	.;CP2C9_HUMAN	C	186	ENSP00000260682:R186C	ENSP00000260682:R186C	R	+	1	0	CYP2C9	96697600	0.996000	0.38824	0.685000	0.30070	0.899000	0.52679	3.579000	0.53900	0.283000	0.22279	0.491000	0.48974	CGT		0.373	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1		NM_000771		11	45	0	0	0	0.010729	0	11	45		
C10orf90	118611	broad.mit.edu	37	10	128193175	128193175	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:128193175G>A	ENST00000284694.7	-	3	714	c.594C>T	c.(592-594)ttC>ttT	p.F198F	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Silent_p.F295F|C10orf90_ENST00000392694.1_Silent_p.F151F|C10orf90_ENST00000356858.3_Silent_p.F151F|C10orf90_ENST00000454341.1_Silent_p.F198F	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	198	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.F198F(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGTTTCTGGAGAACTCTGTGC	0.602											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ljq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(592-594)TTC>TTT		hypothetical protein LOC118611							61.0	66.0	64.0					10																	128193175		2203	4300	6503	SO:0001819	synonymous_variant	118611							g.chr10:128193175G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.594C>T	10.37:g.128193175G>A			OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_uc001ljp.2_Silent_p.F151F|C10orf90_uc010qum.1_Silent_p.F295F|C10orf90_uc009yao.2_Silent_p.F295F|C10orf90_uc001ljs.1_Silent_p.F151F	p.F198F	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	715	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	198					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	c.594C>T	CCDS31310.1																																																																																				0.602	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001004298		23	123	0	0	0	0.014323	0	23	123		
USP47	55031	broad.mit.edu	37	11	11954622	11954622	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:11954622C>G	ENST00000399455.2	+	16	1903	c.1783C>G	c.(1783-1785)Caa>Gaa	p.Q595E	USP47_ENST00000339865.5_Missense_Mutation_p.Q507E|USP47_ENST00000527733.1_Missense_Mutation_p.Q575E|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	595					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.Q507E(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GTTGGAAGAACAAGAAAAGAG	0.338																																						uc001mjq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1783-1785)CAA>GAA		ubiquitin specific protease 47							90.0	93.0	92.0					11																	11954622		1826	4092	5918	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11954622C>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.1783C>G	11.37:g.11954622C>G	ENSP00000382382:p.Gln595Glu					USP47_uc001mjr.2_Missense_Mutation_p.Q507E|USP47_uc001mjs.2_Missense_Mutation_p.Q575E	p.Q595E	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	16	2546	+			595					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.1783C>G		.	.	.	.	.	.	.	.	.	.	C	9.656	1.142965	0.21205	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.04194	3.69;3.69;3.68	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.06645	0.0170	L	0.51422	1.61	0.80722	D	1	B;B	0.16802	0.011;0.019	B;B	0.17098	0.007;0.017	T	0.22556	-1.0213	10	0.02654	T	1	.	19.6665	0.95895	0.0:1.0:0.0:0.0	.	575;507	E9PM46;Q96K76-2	.;.	E	507;575;595	ENSP00000339957:Q507E;ENSP00000433146:Q575E;ENSP00000382382:Q595E	ENSP00000339957:Q507E	Q	+	1	0	USP47	11911198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.686000	0.68211	2.750000	0.94351	0.585000	0.79938	CAA		0.338	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2		NM_017944		2	10	0	0	0	0.004672	0	2	10		
MRGPRX2	117194	broad.mit.edu	37	11	19077796	19077796	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:19077796G>A	ENST00000329773.2	-	2	241	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	52					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)	p.L52F(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGGAGCCAGAGCACAAACCCG	0.572																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(154-156)CTC>TTC		MAS-related GPR, member X2							87.0	94.0	92.0					11																	19077796		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077796G>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.154C>T	11.37:g.19077796G>A	ENSP00000333800:p.Leu52Phe						p.L52F	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			2	242	-			52			Helical; Name=1; (Potential).		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.154C>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	16.76	3.212537	0.58452	.	.	ENSG00000183695	ENST00000329773	T	0.75704	-0.96	5.14	-0.126	0.13515	GPCR, rhodopsin-like superfamily (1);	0.338573	0.25509	N	0.030197	T	0.73992	0.3658	M	0.70595	2.14	0.22127	N	0.999348	P	0.41848	0.763	P	0.51016	0.656	T	0.62992	-0.6736	10	0.36615	T	0.2	.	3.7662	0.08623	0.2365:0.0:0.345:0.4185	.	52	Q96LB1	MRGX2_HUMAN	F	52	ENSP00000333800:L52F	ENSP00000333800:L52F	L	-	1	0	MRGPRX2	19034372	0.001000	0.12720	0.612000	0.29024	0.934000	0.57294	-0.122000	0.10627	-0.088000	0.12506	0.655000	0.94253	CTC		0.572	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1		NM_054030		30	131	0	0	0	0.007291	0	30	131		
MS4A8	83661	broad.mit.edu	37	11	60468502	60468502	+	Missense_Mutation	SNP	G	G	A	rs148191741	byFrequency	TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:60468502G>A	ENST00000300226.2	+	2	372	c.169G>A	c.(169-171)Gtg>Atg	p.V57M		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	57						integral component of membrane (GO:0016021)		p.V57M(1)									GGTGTCGAATGTGAATGGGCA	0.532																																						uc001npv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(169-171)GTG>ATG		membrane-spanning 4-domains, subfamily A, member		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	89.0	80.0	83.0		169	0.6	0.0	11	dbSNP_134	83	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MS4A8B	NM_031457.1	21	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	57/251	60468502	4,13002	2203	4300	6503	SO:0001583	missense	83661					integral to membrane	receptor activity	g.chr11:60468502G>A	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.169G>A	11.37:g.60468502G>A	ENSP00000300226:p.Val57Met					MS4A8B_uc009yne.1_Missense_Mutation_p.V57M	p.V57M	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			2	372	+			57			Cytoplasmic (Potential).		Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	c.169G>A	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.029|8.029	0.761261|0.761261	0.15914|0.15914	2.27E-4|2.27E-4	3.49E-4|3.49E-4	ENSG00000166959|ENSG00000166959	ENST00000525458|ENST00000300226;ENST00000529752	.|T;T	.|0.15952	.|3.19;2.38	3.74|3.74	0.55|0.55	0.17219|0.17219	.|.	.|1.314020	.|0.05591	.|N	.|0.574680	T|T	0.10508|0.10508	0.0257|0.0257	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B	.|0.26195	.|0.144;0.131	.|B;B	.|0.24155	.|0.051;0.035	T|T	0.35251|0.35251	-0.9796|-0.9796	5|10	.|0.23891	.|T	.|0.37	0.0|0.0	2.118|2.118	0.03719|0.03719	0.1194:0.1939:0.4879:0.1988|0.1194:0.1939:0.4879:0.1988	.|.	.|57;57	.|E9PQE1;Q9BY19	.|.;M4A8B_HUMAN	I|M	38|57	.|ENSP00000300226:V57M;ENSP00000436857:V57M	.|ENSP00000300226:V57M	M|V	+|+	3|1	0|0	MS4A8B|MS4A8B	60225078|60225078	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.066000|0.066000	0.16364|0.16364	-0.068000|-0.068000	0.11561|0.11561	0.012000|0.012000	0.14892|0.14892	0.549000|0.549000	0.68633|0.68633	ATG|GTG		0.532	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1				11	58	0	0	0	0.010729	0	11	58		
SART1	9092	broad.mit.edu	37	11	65729273	65729273	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:65729273C>G	ENST00000312397.5	+	1	114	c.22C>G	c.(22-24)Cgc>Ggc	p.R8G	SART1_ENST00000528573.1_3'UTR|TSGA10IP_ENST00000608857.1_RNA|TSGA10IP_ENST00000532620.1_RNA	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	8					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R8G(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CAAGAAGCATCGCGGAGAGAA	0.687																																						uc001ogl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(22-24)CGC>GGC		squamous cell carcinoma antigen recognized by T							12.0	16.0	15.0					11																	65729273		2124	4160	6284	SO:0001583	missense	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65729273C>G	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.22C>G	11.37:g.65729273C>G	ENSP00000310448:p.Arg8Gly					SART1_uc009yqy.1_Missense_Mutation_p.R8G|SART1_uc010rot.1_Translation_Start_Site	p.R8G	NM_005146	NP_005137	O43290	SNUT1_HUMAN			1	114	+			8					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.22C>G	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495227	0.85069	.	.	ENSG00000175467	ENST00000312397	T	0.29142	1.58	4.07	4.07	0.47477	.	0.089853	0.41712	D	0.000832	T	0.31544	0.0800	N	0.08118	0	0.30496	N	0.770879	P;D	0.53745	0.924;0.962	P;D	0.65010	0.651;0.931	T	0.23762	-1.0179	10	0.87932	D	0	-6.6535	11.6946	0.51536	0.0:1.0:0.0:0.0	.	8;8	E9PN28;O43290	.;SNUT1_HUMAN	G	8	ENSP00000310448:R8G	ENSP00000310448:R8G	R	+	1	0	SART1	65485849	1.000000	0.71417	0.865000	0.33974	0.950000	0.60333	3.443000	0.52907	2.119000	0.64992	0.456000	0.33151	CGC		0.687	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1				8	15	0	0	0	0.004482	0	8	15		
BBS1	582	broad.mit.edu	37	11	66282016	66282016	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:66282016G>A	ENST00000318312.7	+	4	350	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	BBS1_ENST00000455748.2_Missense_Mutation_p.R100Q|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.R137Q|BBS1_ENST00000537537.1_Missense_Mutation_p.G4R|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Missense_Mutation_p.R100Q	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	100					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.R100Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CATGAGCCCCGGACCCCAGCT	0.562									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	uc001oij.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(298-300)CGG>CAG		Bardet-Biedl syndrome 1							128.0	131.0	130.0					11																	66282016		2200	4295	6495	SO:0001583	missense	582	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding	g.chr11:66282016G>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.299G>A	11.37:g.66282016G>A	ENSP00000317469:p.Arg100Gln					BBS1_uc001oii.1_Missense_Mutation_p.R137Q|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.R100Q|BBS1_uc001oik.1_Missense_Mutation_p.R24Q|BBS1_uc001oil.1_Missense_Mutation_p.R100Q	p.R100Q	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN			4	311	+			100					Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.299G>A	CCDS8142.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.75|18.75	3.690693|3.690693	0.68271|0.68271	.|.	.|.	ENSG00000174483|ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000537537|ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994;ENST00000524705	D|D;D;D;D;D	0.87256|0.91351	-2.23|-2.83;-2.83;-2.83;-2.83;-2.83	5.09|5.09	3.23|3.23	0.37069|0.37069	.|.	.|.	.|.	.|.	.|.	D|D	0.94424|0.94424	0.8206|0.8206	M|M	0.76838|0.76838	2.35|2.35	0.25882|0.25882	N|N	0.983576|0.983576	.|B;B;D;D	.|0.89917	.|0.392;0.056;1.0;1.0	.|B;B;D;D	.|0.91635	.|0.03;0.03;0.999;0.999	D|D	0.86963|0.86963	0.2093|0.2093	7|9	0.87932|0.62326	D|D	0|0.03	.|.	10.1605|10.1605	0.42849|0.42849	0.1502:0.0:0.8498:0.0|0.1502:0.0:0.8498:0.0	.|.	.|100;100;100;137	.|E7EQH1;Q32MM9;Q8NFJ9;Q8NFJ9-2	.|.;.;BBS1_HUMAN;.	R|Q	4|137;100;100;100;7	ENSP00000439873:G4R|ENSP00000398526:R137Q;ENSP00000317469:R100Q;ENSP00000405764:R100Q;ENSP00000377563:R100Q;ENSP00000436927:R7Q	ENSP00000439873:G4R|ENSP00000317469:R100Q	G|R	+|+	1|2	0|0	BBS1|BBS1;CTD-3074O7.11	66038592|66038592	1.000000|1.000000	0.71417|0.71417	0.562000|0.562000	0.28370|0.28370	0.311000|0.311000	0.27955|0.27955	5.784000|5.784000	0.68990|0.68990	0.677000|0.677000	0.31305|0.31305	-0.484000|-0.484000	0.04775|0.04775	GGA|CGG		0.562	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2				50	205	0	0	0	0.01441	0	50	205		
GPR152	390212	broad.mit.edu	37	11	67219578	67219578	+	Silent	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:67219578G>C	ENST00000312457.2	-	1	622	c.618C>G	c.(616-618)ctC>ctG	p.L206L	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L206L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CGAGCAGCAGGAGGAAAGGCA	0.677																																					Pancreas(102;800 1581 2723 7382 33622)	uc001olm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(616-618)CTC>CTG		G protein-coupled receptor 152							53.0	52.0	52.0					11																	67219578		2199	4293	6492	SO:0001819	synonymous_variant	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219578G>C	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.618C>G	11.37:g.67219578G>C						uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	p.L206L	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	623	-			206			Helical; Name=5; (Potential).		Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	c.618C>G	CCDS8165.1																																																																																				0.677	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1				9	45	0	0	0	0.006214	0	9	45		
OPCML	4978	broad.mit.edu	37	11	132527208	132527209	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:132527208_132527209GG>TT	ENST00000331898.7	-	2	751_752	c.173_174CC>AA	c.(172-174)aCC>aAA	p.T58K	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.T51K|OPCML_ENST00000374778.4_Missense_Mutation_p.T17K|OPCML_ENST00000541867.1_Missense_Mutation_p.T58K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	58	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.T58N(1)|p.T51K(1)|p.T58>?(1)|p.T51N(1)|p.T51T(1)|p.T58T(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGTCATCTATGGTACACCTGCA	0.515																																						uc001qgs.2		NaN																	6	Substitution - Missense(3)|Substitution - coding silent(2)|Complex(1)		urinary_tract(6)	ovary(2)|skin(1)	3						c.(172-174)ACC>AAA		opioid binding protein/cell adhesion																																				SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132527208_132527209GG>TT	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.173_174delinsTT	11.37:g.132527208_132527209delinsTT	ENSP00000330862:p.Thr58Lys					OPCML_uc001qgu.2_Missense_Mutation_p.T51K|OPCML_uc010sck.1_Missense_Mutation_p.T58K|OPCML_uc001qgt.2_Missense_Mutation_p.T58K|OPCML_uc010scl.1_Missense_Mutation_p.T17K	p.T58K	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	2	223_224	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	58			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	DNP	ENST00000331898.7	37	c.173_174CC>AA	CCDS8492.1																																																																																				0.515	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3		NM_001012393		8	40	0	0	0	0.004672	0	8	40		
CD163	9332	broad.mit.edu	37	12	7635262	7635262	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:7635262C>T	ENST00000359156.4	-	14	3426	c.3224G>A	c.(3223-3225)cGa>cAa	p.R1075Q	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.R1063Q|CD163_ENST00000432237.2_Missense_Mutation_p.R1075Q|CD163_ENST00000396620.3_Missense_Mutation_p.R1108Q	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1075					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R1075Q(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TCTCTGTCTTCGCTTTTTAGT	0.433																																						uc001qsz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(3223-3225)CGA>CAA		CD163 antigen isoform a							133.0	145.0	141.0					12																	7635262		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635262C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3224G>A	12.37:g.7635262C>T	ENSP00000352071:p.Arg1075Gln					CD163_uc001qta.3_Missense_Mutation_p.R1075Q|CD163_uc009zfw.2_Missense_Mutation_p.R1108Q	p.R1075Q	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			14	3352	-			1075			Cytoplasmic (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3224G>A	CCDS8578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.835|8.835	0.940901|0.940901	0.18281|0.18281	.|.	.|.	ENSG00000177575|ENSG00000177575	ENST00000537626|ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.|T;T;T;T	.|0.01265	.|5.08;5.1;5.11;5.11	4.32|4.32	-0.572|-0.572	0.11745|0.11745	.|.	.|0.847527	.|0.09654	.|N	.|0.773336	T|T	0.01156|0.01156	0.0038|0.0038	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.26363	.|0.147;0.062;0.147	.|B;B;B	.|0.15484	.|0.006;0.013;0.006	T|T	0.48647|0.48647	-0.9017|-0.9017	5|10	.|0.15499	.|T	.|0.54	.|.	7.3586|7.3586	0.26733|0.26733	0.0:0.513:0.0:0.487|0.0:0.513:0.0:0.487	.|.	.|1108;1075;1075	.|C9JHR8;Q86VB7-3;Q86VB7	.|.;.;C163A_HUMAN	K|Q	88|1075;1063;1108;1075	.|ENSP00000352071:R1075Q;ENSP00000444071:R1063Q;ENSP00000379863:R1108Q;ENSP00000403885:R1075Q	.|ENSP00000352071:R1075Q	E|R	-|-	1|2	0|0	CD163|CD163	7526529|7526529	0.614000|0.614000	0.27017|0.27017	0.001000|0.001000	0.08648|0.08648	0.028000|0.028000	0.11728|0.11728	0.305000|0.305000	0.19254|0.19254	-0.106000|-0.106000	0.12110|0.12110	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.433	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2		NM_004244, NM_203416		16	86	0	0	0	0.010504	0	16	86		
RIMKLB	57494	broad.mit.edu	37	12	8902643	8902643	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:8902643G>A	ENST00000538135.1	+	3	1186	c.361G>A	c.(361-363)Gag>Aag	p.E121K	RIMKLB_ENST00000535829.1_Missense_Mutation_p.E121K|RIMKLB_ENST00000357529.3_Missense_Mutation_p.E121K|RIMKLB_ENST00000299673.5_3'UTR			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	121	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.E121K(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GACATTTCAAGAGTTGGCTGG	0.433																																						uc001quu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(361-363)GAG>AAG		ribosomal modification protein rimK-like family							89.0	86.0	87.0					12																	8902643		1906	4112	6018	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8902643G>A	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.361G>A	12.37:g.8902643G>A	ENSP00000440943:p.Glu121Lys					RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.E121K|RIMKLB_uc010sgl.1_Missense_Mutation_p.E121K|RIMKLB_uc001quw.2_Missense_Mutation_p.E121K	p.E121K	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			3	612	+			121			ATP-grasp.		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.361G>A	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557560	0.45590	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.47	5.47	0.80525	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.000000	0.64402	U	0.000001	T	0.56321	0.1977	L	0.31065	0.9	0.80722	D	1	B;B	0.27117	0.12;0.168	B;B	0.32289	0.049;0.143	T	0.57636	-0.7777	9	0.72032	D	0.01	.	17.8968	0.88891	0.0:0.0:1.0:0.0	.	121;121	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	K	121	.	ENSP00000350136:E121K	E	+	1	0	RIMKLB	8793910	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.349000	0.97066	2.571000	0.86741	0.591000	0.81541	GAG		0.433	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1		NM_020734		7	66	0	0	0	0.00308	0	7	66		
FAM186B	84070	broad.mit.edu	37	12	49997129	49997129	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:49997129A>G	ENST00000257894.2	-	3	505	c.344T>C	c.(343-345)aTt>aCt	p.I115T	PRPF40B_ENST00000508736.1_Intron|FAM186B_ENST00000551047.1_Missense_Mutation_p.I115T|FAM186B_ENST00000544141.1_Missense_Mutation_p.I25T	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	115						protein complex (GO:0043234)		p.I115T(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGGGCCCAATCTCATAGGT	0.557																																						uc001ruo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(343-345)ATT>ACT		hypothetical protein LOC84070							137.0	91.0	107.0					12																	49997129		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49997129A>G	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.344T>C	12.37:g.49997129A>G	ENSP00000257894:p.Ile115Thr					FAM186B_uc010smk.1_Missense_Mutation_p.I25T	p.I115T	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN			3	517	-			115					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.344T>C	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	A	5.324	0.245123	0.10077	.	.	ENSG00000135436	ENST00000544141;ENST00000551047;ENST00000257894	T;T;T	0.48201	2.63;0.82;2.84	4.74	2.05	0.26809	.	0.162693	0.29021	N	0.013391	T	0.29749	0.0743	L	0.33485	1.01	0.26559	N	0.97378	B;B	0.31931	0.347;0.029	B;B	0.31495	0.131;0.049	T	0.09271	-1.0682	9	.	.	.	-12.0564	4.9729	0.14125	0.7044:0.0:0.2956:0.0	.	25;115	B4DZ15;Q8IYM0	.;F186B_HUMAN	T	25;115;115	ENSP00000438569:I25T;ENSP00000448656:I115T;ENSP00000257894:I115T	.	I	-	2	0	FAM186B	48283396	0.982000	0.34865	0.650000	0.29550	0.192000	0.23643	2.571000	0.45990	0.768000	0.33290	0.533000	0.62120	ATT		0.557	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2		NM_032130		11	53	0	0	0	0.008291	0	11	53		
PIP4K2C	79837	broad.mit.edu	37	12	57992888	57992888	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:57992888T>A	ENST00000354947.5	+	5	570	c.554T>A	c.(553-555)tTc>tAc	p.F185Y	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.F167Y|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.F185Y|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.F137Y			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	185	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)	p.F185Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CTGCCCCAGTTCCTGGGGATG	0.517																																						uc001sou.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|lung(1)	3						c.(553-555)TTC>TAC		phosphatidylinositol-5-phosphate 4-kinase, type							167.0	134.0	146.0					12																	57992888		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57992888T>A	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.554T>A	12.37:g.57992888T>A	ENSP00000347032:p.Phe185Tyr					PIP4K2C_uc001sot.2_Missense_Mutation_p.F185Y|PIP4K2C_uc010srs.1_Missense_Mutation_p.F167Y|PIP4K2C_uc010srt.1_Missense_Mutation_p.F137Y	p.F185Y	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			5	685	+	Melanoma(17;0.122)		185			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.554T>A	CCDS8946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.38|19.38	3.817013|3.817013	0.70912|0.70912	.|.	.|.	ENSG00000166908|ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000436866;ENST00000550465;ENST00000354947|ENST00000548264	T;T;T;T|.	0.39406|.	1.08;1.08;1.08;1.08|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);|.	0.050365|.	0.85682|.	D|.	0.000000|.	T|T	0.68805|0.68805	0.3041|0.3041	L|L	0.54965|0.54965	1.715|1.715	0.80722|0.80722	D|D	1|1	P;P;B|.	0.35600|.	0.476;0.511;0.066|.	B;B;B|.	0.43018|.	0.405;0.267;0.169|.	T|T	0.66937|0.66937	-0.5797|-0.5797	10|5	0.25106|.	T|.	0.35|.	-16.0315|-16.0315	14.9499|14.9499	0.71064|0.71064	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	137;167;185|.	B4DM11;B4DY44;Q8TBX8|.	.;.;PI42C_HUMAN|.	Y|T	137;185;185;167;185|6	ENSP00000412035:F137Y;ENSP00000439878:F185Y;ENSP00000447390:F167Y;ENSP00000347032:F185Y|.	ENSP00000347032:F185Y|.	F|S	+|+	2|1	0|0	PIP4K2C|PIP4K2C	56279155|56279155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.586000|7.586000	0.82596|0.82596	2.242000|2.242000	0.73789|0.73789	0.459000|0.459000	0.35465|0.35465	TTC|TCC		0.517	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1		NM_024779		14	80	0	0	0	0.020292	0	14	80		
CAMKK2	10645	broad.mit.edu	37	12	121693608	121693608	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:121693608C>T	ENST00000324774.5	-	8	1625		c.e8-1		CAMKK2_ENST00000347034.2_Splice_Site|CAMKK2_ENST00000402834.4_Splice_Site|CAMKK2_ENST00000446440.2_Splice_Site|CAMKK2_ENST00000392474.2_Splice_Site|CAMKK2_ENST00000404169.3_Splice_Site|CAMKK2_ENST00000538733.1_Splice_Site|CAMKK2_ENST00000545538.1_Splice_Site|CAMKK2_ENST00000337174.3_Splice_Site|CAMKK2_ENST00000392473.2_Splice_Site|CAMKK2_ENST00000412367.2_Splice_Site|CAMKK2_ENST00000535524.1_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta						calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)	p.?(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTTCGAACACTGTAGGGAAG	0.527																																						uc001tzu.2		NaN																	2	Unknown(2)		urinary_tract(2)	lung(1)|large_intestine(1)|stomach(1)	3						c.e8-1		calcium/calmodulin-dependent protein kinase							141.0	116.0	124.0					12																	121693608		2203	4300	6503	SO:0001630	splice_region_variant	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121693608C>T	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.797-1G>A	12.37:g.121693608C>T						CAMKK2_uc001tzt.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzv.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzw.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzx.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzy.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzz.1_Splice_Site_p.V53_splice|CAMKK2_uc001uaa.1_Splice_Site_p.V266_splice|CAMKK2_uc001uab.2_Splice_Site_p.V266_splice|CAMKK2_uc001uac.2_Splice_Site_p.V266_splice	p.V266_splice	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN			8	921	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)							A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Splice_Site	SNP	ENST00000324774.5	37	c.797_splice	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457125	0.63401	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6744	0.88226	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAMKK2	120177991	1.000000	0.71417	0.999000	0.59377	0.629000	0.37895	4.908000	0.63307	2.404000	0.81709	0.655000	0.94253	.		0.527	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1		NM_172226	Intron	6	30	0	0	0	0.001984	0	6	30		
KNTC1	9735	broad.mit.edu	37	12	123067479	123067479	+	Silent	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:123067479G>C	ENST00000333479.7	+	34	3387	c.3210G>C	c.(3208-3210)ctG>ctC	p.L1070L	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1070					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.L1070L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGGCAGAGCTGACCTTGAGAG	0.502																																						uc001ucv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(3208-3210)CTG>CTC		Rough Deal homolog, centromere/kinetochore							37.0	39.0	38.0					12																	123067479		2026	4187	6213	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123067479G>C		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3210G>C	12.37:g.123067479G>C						KNTC1_uc010taf.1_Intron	p.L1070L	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	34	3373	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1070					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.3210G>C	CCDS45002.1																																																																																				0.502	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2				3	23	0	0	0	0.004672	0	3	23		
DNAH10	196385	broad.mit.edu	37	12	124416629	124416629	+	Silent	SNP	C	C	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:124416629C>A	ENST00000409039.3	+	75	12941	c.12916C>A	c.(12916-12918)Cgg>Agg	p.R4306R	CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4306					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)	p.R4306R(1)|p.R2898R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTACTTCCTGCGGCGGTTCAG	0.532																																						uc001uft.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(12916-12918)CGG>AGG		dynein, axonemal, heavy chain 10							81.0	85.0	84.0					12																	124416629		1979	4146	6125	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416629C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12916C>A	12.37:g.124416629C>A						DNAH10_uc001ufu.3_Silent_p.R219R	p.R4306R	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	75	12941	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4306					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.12916C>A	CCDS9255.2																																																																																				0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				12	71	1	0	1.08611e-07	0.010729	1.16597e-07	12	71		
MPHOSPH8	54737	broad.mit.edu	37	13	20224169	20224169	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:20224169G>C	ENST00000361479.5	+	5	1413	c.1345G>C	c.(1345-1347)Gat>Cat	p.D449H	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.D449H	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	449					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)	p.D449H(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AAATGCATTTGATTTATTTAA	0.279																																						uc001umh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1345-1347)GAT>CAT		M-phase phosphoprotein 8							24.0	26.0	26.0					13																	20224169		2200	4296	6496	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20224169G>C	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1345G>C	13.37:g.20224169G>C	ENSP00000355388:p.Asp449His					MPHOSPH8_uc001umg.2_Missense_Mutation_p.D449H|MPHOSPH8_uc001umi.2_Missense_Mutation_p.D146H	p.D449H	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	5	1354	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	449					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1345G>C	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856346	0.71834	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.36699	1.24;1.24	5.34	5.34	0.76211	.	0.164580	0.40908	D	0.000987	T	0.59321	0.2185	L	0.59436	1.845	0.47245	D	0.999366	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.95;0.977	T	0.60388	-0.7273	10	0.72032	D	0.01	.	19.4178	0.94709	0.0:0.0:1.0:0.0	.	449;449;449	F5H8H9;Q99549;Q99549-2	.;MPP8_HUMAN;.	H	449	ENSP00000414663:D449H;ENSP00000355388:D449H	ENSP00000355388:D449H	D	+	1	0	MPHOSPH8	19122169	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.681000	0.61663	2.665000	0.90641	0.460000	0.39030	GAT		0.279	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2		NM_017520		5	30	0	0	0	0.014758	0	5	30		
FREM2	341640	broad.mit.edu	37	13	39266204	39266204	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:39266204G>A	ENST00000280481.7	+	1	4939	c.4723G>A	c.(4723-4725)Gtg>Atg	p.V1575M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1575					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1575M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TATCACCCAGGTGCCTATTCA	0.418																																						uc001uwv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(4723-4725)GTG>ATG		FRAS1-related extracellular matrix protein 2							105.0	104.0	105.0					13																	39266204		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39266204G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4723G>A	13.37:g.39266204G>A	ENSP00000280481:p.Val1575Met						p.V1575M	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	5032	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1575			Extracellular (Potential).|CSPG 11.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4723G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	5.911	0.352104	0.11182	.	.	ENSG00000150893	ENST00000280481	T	0.27402	1.67	6.07	2.26	0.28386	.	0.484255	0.23644	N	0.046000	T	0.30916	0.0780	M	0.79123	2.44	0.46061	D	0.99884	B	0.12013	0.005	B	0.19391	0.025	T	0.05989	-1.0852	10	0.33940	T	0.23	.	6.0554	0.19809	0.2919:0.0:0.5872:0.1209	.	1575	Q5SZK8	FREM2_HUMAN	M	1575	ENSP00000280481:V1575M	ENSP00000280481:V1575M	V	+	1	0	FREM2	38164204	1.000000	0.71417	0.947000	0.38551	0.956000	0.61745	0.847000	0.27696	0.102000	0.17638	-0.158000	0.13435	GTG		0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		16	103	0	0	0	0.003163	0	16	103		
VWA8	23078	broad.mit.edu	37	13	42442585	42442585	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:42442585G>C	ENST00000379310.3	-	10	1177	c.1109C>G	c.(1108-1110)tCt>tGt	p.S370C	VWA8_ENST00000281496.6_Missense_Mutation_p.S370C	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	370						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S370C(1)									AGGAAGTAGAGAGCTTCCTGA	0.368																																						uc001uyj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(1108-1110)TCT>TGT		hypothetical protein LOC23078 isoform a							94.0	85.0	88.0					13																	42442585		2203	4300	6503	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42442585G>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1109C>G	13.37:g.42442585G>C	ENSP00000368612:p.Ser370Cys					KIAA0564_uc001uyk.2_Missense_Mutation_p.S370C	p.S370C	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	10	1179	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	370					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.1109C>G	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726469	0.30593	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.12774	2.85;2.65	5.15	5.15	0.70609	.	0.638770	0.15099	N	0.280606	T	0.22936	0.0554	M	0.73598	2.24	0.09310	N	1	P	0.42078	0.77	B	0.42188	0.379	T	0.13361	-1.0512	10	0.72032	D	0.01	.	13.8499	0.63489	0.0:0.0:0.8095:0.1905	.	370	A3KMH1	K0564_HUMAN	C	274;370;370;370	ENSP00000368612:S370C;ENSP00000281496:S370C	ENSP00000251030:S274C	S	-	2	0	KIAA0564	41340585	0.047000	0.20315	0.030000	0.17652	0.382000	0.30200	2.254000	0.43214	2.544000	0.85801	0.650000	0.86243	TCT		0.368	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		NM_015058		11	62	0	0	0	0.008291	0	11	62		
PCDH17	27253	broad.mit.edu	37	13	58208888	58208888	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:58208888G>C	ENST00000377918.3	+	1	2234	c.2208G>C	c.(2206-2208)gaG>gaC	p.E736D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	736					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E736D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAACAAGGAGATCCGCACTT	0.552																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2206-2208)GAG>GAC		protocadherin 17 precursor							82.0	77.0	79.0					13																	58208888		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208888G>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2208G>C	13.37:g.58208888G>C	ENSP00000367151:p.Glu736Asp					PCDH17_uc010aec.1_Missense_Mutation_p.E736D	p.E736D	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3100	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	736			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2208G>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	9.048	0.991469	0.18966	.	.	ENSG00000118946	ENST00000377918	T	0.51325	0.71	5.44	2.42	0.29668	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	N	0.25286	0.73	0.42575	D	0.993191	B;B	0.23316	0.083;0.05	B;B	0.35550	0.205;0.101	T	0.06162	-1.0842	9	.	.	.	.	8.3326	0.32195	0.3398:0.0:0.6602:0.0	.	736;736	O14917-2;O14917	.;PCD17_HUMAN	D	736	ENSP00000367151:E736D	.	E	+	3	2	PCDH17	57106889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.322000	0.33689	0.142000	0.18901	0.591000	0.81541	GAG		0.552	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1		NM_001040429		6	49	0	0	0	0.001984	0	6	49		
COMMD6	170622	broad.mit.edu	37	13	76104396	76104396	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:76104396C>G	ENST00000377615.3	-	4	225	c.61G>C	c.(61-63)Gat>Cat	p.D21H	COMMD6_ENST00000377619.5_Missense_Mutation_p.D36H|COMMD6_ENST00000406936.3_Missense_Mutation_p.D21H|COMMD6_ENST00000355801.4_Missense_Mutation_p.D21H|COMMD6_ENST00000460675.1_5'UTR			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	21	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)	p.D21H(1)		breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		CACTGAAAATCTACAAGCTTT	0.363																																						uc001vjo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(61-63)GAT>CAT		COMM domain containing 6 isoform b							68.0	66.0	67.0					13																	76104396		2203	4300	6503	SO:0001583	missense	170622					cytoplasm|nucleus	protein binding	g.chr13:76104396C>G	AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.61G>C	13.37:g.76104396C>G	ENSP00000366841:p.Asp21His					COMMD6_uc001vjn.1_Missense_Mutation_p.D21H|COMMD6_uc010aet.1_RNA|COMMD6_uc001vjp.1_Splice_Site	p.D21H	NM_203495	NP_987091	Q7Z4G1	COMD6_HUMAN		GBM - Glioblastoma multiforme(99;0.0104)	3	111	-		Breast(118;0.0979)|Prostate(6;0.122)	21			COMM.		A6NF28|B7ZLN0|Q5TBK4	Missense_Mutation	SNP	ENST00000377615.3	37	c.61G>C	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806982	0.70797	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000377619;ENST00000355801	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.13	5.13	0.70059	COMM domain (1);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.36089	-0.9762	9	0.87932	D	0	.	18.5192	0.90945	0.0:1.0:0.0:0.0	.	21;21	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	H	21;21;36;21	ENSP00000385660:D21H;ENSP00000366841:D21H;ENSP00000366845:D36H;ENSP00000348054:D21H	ENSP00000348054:D21H	D	-	1	0	COMMD6	75002397	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	7.337000	0.79256	2.546000	0.85860	0.655000	0.94253	GAT		0.363	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4		XM_085023		10	67	0	0	0	0.006214	0	10	67		
FOS	2353	broad.mit.edu	37	14	75747297	75747297	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr14:75747297G>A	ENST00000303562.4	+	3	637	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	FOS_ENST00000555242.1_Missense_Mutation_p.R143Q|FOS_ENST00000535987.1_Intron|FOS_ENST00000555347.1_5'UTR|FOS_ENST00000555686.1_Missense_Mutation_p.R29Q	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	143	Basic motif; required for the activation of phospholipid synthesis, but not for CDS1-binding.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.			SPEEEEKRRIRR -> ISRRRREKENPK (in Ref. 6; no nucleotide entry). {ECO:0000305}.	aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R143Q(2)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	AGGAGAATCCGAAGGGAAAGG	0.468																																						uc001xrn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(2)|ovary(1)	3						c.(427-429)CGA>CAA		v-fos FBJ murine osteosarcoma viral oncogene							52.0	60.0	57.0					14																	75747297		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75747297G>A	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.428G>A	14.37:g.75747297G>A	ENSP00000306245:p.Arg143Gln					FOS_uc010tva.1_Intron|FOS_uc010asi.2_Missense_Mutation_p.R29Q|FOS_uc001xro.2_5'UTR	p.R143Q	NM_005252	NP_005243	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	3	633	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	143	SPEEEEKRRIRR -> ISRRRREKENPK (in Ref. 6; no nucleotide entry).		Basic motif.		A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.428G>A	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523266	0.85600	.	.	ENSG00000170345	ENST00000303562;ENST00000555242;ENST00000555686;ENST00000557139	T;T;T;T	0.71579	-0.25;-0.25;-0.25;-0.58	5.28	5.28	0.74379	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.057148	0.64402	D	0.000003	D	0.89361	0.6693	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92277	0.5830	10	0.87932	D	0	-11.9305	18.8915	0.92406	0.0:0.0:1.0:0.0	.	143	P01100	FOS_HUMAN	Q	143;143;29;59	ENSP00000306245:R143Q;ENSP00000452386:R143Q;ENSP00000452590:R29Q;ENSP00000451786:R59Q	ENSP00000306245:R143Q	R	+	2	0	FOS	74817050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.218000	0.95166	2.621000	0.88768	0.563000	0.77884	CGA		0.468	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1		NM_005252		6	40	0	0	0	0.001168	0	6	40		
ATP10A	57194	broad.mit.edu	37	15	25963405	25963405	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:25963405T>A	ENST00000356865.6	-	8	1616	c.1505A>T	c.(1504-1506)cAc>cTc	p.H502L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	502					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)	p.H502L(1)		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)		CGTGCGCCGGTGGGACTTGGT	0.687																																						uc010ayu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1504-1506)CAC>CTC		ATPase, class V, type 10A							34.0	33.0	34.0					15																	25963405		2200	4298	6498	SO:0001583	missense	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.chr15:25963405T>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.1505A>T	15.37:g.25963405T>A	ENSP00000349325:p.His502Leu						p.H502L	NM_024490	NP_077816	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)	8	1611	-		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)	502			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1505A>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016055	0.75161	.	.	ENSG00000206190	ENST00000356865	T	0.10477	2.87	5.14	3.94	0.45596	HAD-like domain (1);	0.105908	0.64402	D	0.000005	T	0.14700	0.0355	M	0.74881	2.28	0.49483	D	0.999796	B	0.32968	0.392	B	0.38296	0.27	T	0.02909	-1.1095	10	0.08381	T	0.77	-24.7051	11.6481	0.51273	0.0:0.0:0.1483:0.8517	.	502	O60312	AT10A_HUMAN	L	502	ENSP00000349325:H502L	ENSP00000349325:H502L	H	-	2	0	ATP10A	23514498	1.000000	0.71417	0.992000	0.48379	0.666000	0.39218	5.962000	0.70364	1.930000	0.55929	0.533000	0.62120	CAC		0.687	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1		NM_024490		4	22	0	0	0	0.014758	0	4	22		
LOC100288637	100288637	broad.mit.edu	37	15	30938316	30938316	+	lincRNA	SNP	G	G	A	rs112615235		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:30938316G>A	ENST00000602684.1	+	0	0																											TTCCTTGGCAGTGGATAAGTT	0.393																																						uc010azv.1		NaN																	0					0						c.e11-1		Homo sapiens cDNA, FLJ17072.																																						89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30938316G>A																													15.37:g.30938316G>A						ARHGAP11B_uc001zeu.2_Splice_Site				Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	11		+		all_lung(180;2.71e-09)|Breast(32;0.00116)							Splice_Site	SNP	ENST00000602684.1	37	c.1127_splice																																																																																					0.393	RP11-932O9.10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467507.1				6	25	0	0	0	0.001168	0	6	25		
CATSPER2	117155	broad.mit.edu	37	15	43940187	43940187	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:43940187T>C	ENST00000321596.5	-	2	272	c.73A>G	c.(73-75)Act>Gct	p.T25A	CATSPER2_ENST00000381761.1_Missense_Mutation_p.T31A|CATSPER2_ENST00000396879.1_Missense_Mutation_p.T25A|CATSPER2_ENST00000355438.2_Missense_Mutation_p.T25A|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.T25A|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	25					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.T25A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGAGAGAAAGTATCGATGAGA	0.473																																						uc001zsh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(73-75)ACT>GCT		sperm-associated cation channel 2 isoform 2							204.0	202.0	203.0					15																	43940187		2199	4296	6495	SO:0001583	missense	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43940187T>C	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.73A>G	15.37:g.43940187T>C	ENSP00000321463:p.Thr25Ala					CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.T25A|CATSPER2_uc001zsj.2_Missense_Mutation_p.T25A|CATSPER2_uc001zsk.2_Missense_Mutation_p.T25A|CATSPER2_uc001zsl.1_Intron	p.T25A	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	2	288	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	25			Cytoplasmic (Potential).		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	c.73A>G	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970099	0.53614	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438;ENST00000432420;ENST00000409481;ENST00000419473	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	2.64	2.64	0.31445	.	.	.	.	.	T	0.54271	0.1848	M	0.73598	2.24	0.27978	N	0.936138	D;D;D	0.89917	1.0;0.997;0.995	D;D;P	0.83275	0.996;0.942;0.866	T	0.38585	-0.9654	9	0.37606	T	0.19	.	7.0877	0.25267	0.0:0.0:0.0:1.0	.	25;31;25	Q96P56-4;F8W9H2;Q96P56	.;.;CTSR2_HUMAN	A	25;25;31;25;25;25;25;25;25	ENSP00000380088:T25A;ENSP00000371180:T31A;ENSP00000321463:T25A;ENSP00000339137:T25A;ENSP00000347613:T25A;ENSP00000407694:T25A;ENSP00000386595:T25A	ENSP00000299989:T25A	T	-	1	0	CATSPER2	41727479	1.000000	0.71417	0.999000	0.59377	0.720000	0.41350	3.580000	0.53907	1.219000	0.43474	0.155000	0.16302	ACT		0.473	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2		NM_054020		55	282	0	0	0	0.01441	0	55	282		
HERC1	8925	broad.mit.edu	37	15	63970057	63970057	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:63970057C>G	ENST00000443617.2	-	37	7144	c.7057G>C	c.(7057-7059)Gaa>Caa	p.E2353Q	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2353					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E2353Q(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATAGTAATTTCTGCTTCATCC	0.458																																						uc002amp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(7057-7059)GAA>CAA		hect domain and RCC1-like domain 1							169.0	172.0	171.0					15																	63970057		2059	4209	6268	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970057C>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7057G>C	15.37:g.63970057C>G	ENSP00000390158:p.Glu2353Gln						p.E2353Q	NM_003922	NP_003913	Q15751	HERC1_HUMAN			37	7205	-			2353					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.7057G>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039024	0.93630	.	.	ENSG00000103657	ENST00000443617	T	0.30714	1.52	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	L	0.47716	1.5	0.80722	D	1	P	0.51057	0.941	P	0.49597	0.616	T	0.14420	-1.0473	10	0.59425	D	0.04	.	20.0628	0.97684	0.0:1.0:0.0:0.0	.	2353	Q15751	HERC1_HUMAN	Q	2353	ENSP00000390158:E2353Q	ENSP00000390158:E2353Q	E	-	1	0	HERC1	61757110	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	GAA		0.458	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		26	104	0	0	0	0.004656	0	26	104		
IL16	3603	broad.mit.edu	37	15	81592687	81592687	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:81592687C>G	ENST00000302987.4	+	13	3020	c.3020C>G	c.(3019-3021)tCt>tGt	p.S1007C	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Missense_Mutation_p.S1007C|IL16_ENST00000394652.2_Missense_Mutation_p.S306C			Q14005	IL16_HUMAN	interleukin 16	1007					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S1007C(1)|p.S961C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGCCTTCCATCTTCTATCTCC	0.493																																						uc002bgh.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(1)|skin(1)	4						c.(3019-3021)TCT>TGT		interleukin 16 isoform 2							115.0	101.0	106.0					15																	81592687		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592687C>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3020C>G	15.37:g.81592687C>G	ENSP00000302935:p.Ser1007Cys					IL16_uc010blq.1_Missense_Mutation_p.S961C|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.S1049C|IL16_uc002bgg.2_Missense_Mutation_p.S1007C|IL16_uc002bgi.1_Missense_Mutation_p.S397C|IL16_uc002bgj.2_Missense_Mutation_p.S501C|IL16_uc002bgk.2_Missense_Mutation_p.S306C|IL16_uc002bgl.1_Missense_Mutation_p.S306C|IL16_uc010unq.1_Missense_Mutation_p.S306C	p.S1007C	NM_172217	NP_757366	Q14005	IL16_HUMAN			14	3396	+			1007					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3020C>G	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656803	0.47467	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.11712	2.75;2.75;3.34	4.23	4.23	0.50019	.	0.000000	0.44688	D	0.000422	T	0.28566	0.0707	M	0.71581	2.175	0.09310	N	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.998;0.998	D;D;D;D;P;D	0.80764	0.952;0.942;0.994;0.956;0.864;0.936	T	0.02625	-1.1132	10	0.72032	D	0.01	.	9.7151	0.40270	0.0:0.9042:0.0:0.0958	.	839;500;544;397;1007;1007	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	C	1007;839;1007;544;397;306;306	ENSP00000378155:S1007C;ENSP00000302935:S1007C;ENSP00000378147:S306C	ENSP00000302935:S1007C	S	+	2	0	IL16	79379742	0.204000	0.23447	0.010000	0.14722	0.067000	0.16453	4.276000	0.58933	2.178000	0.69098	0.591000	0.81541	TCT		0.493	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1		NM_172217		20	101	0	0	0	0.008871	0	20	101		
PCSK6	5046	broad.mit.edu	37	15	101906530	101906530	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:101906530C>T	ENST00000348070.1	-	14	1725	c.1726G>A	c.(1726-1728)Gat>Aat	p.D576N	PCSK6_ENST00000398181.2_Missense_Mutation_p.D576N|PCSK6_ENST00000358417.3_Missense_Mutation_p.D576N|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.D411N|PCSK6_ENST00000344273.2_Missense_Mutation_p.D576N	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	577					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.D576N(3)|p.D411N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTGGAAAGATCCAGCAACCTG	0.542																																						uc002bwy.2		NaN																	4	Substitution - Missense(4)		urinary_tract(4)	pancreas(2)	2						c.(1729-1731)GAT>AAT		paired basic amino acid cleaving system 4							80.0	78.0	78.0					15																	101906530		1935	4133	6068	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101906530C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1726G>A	15.37:g.101906530C>T	ENSP00000305056:p.Asp576Asn					PCSK6_uc010bpd.2_Missense_Mutation_p.D373N|PCSK6_uc010bpe.2_Missense_Mutation_p.D577N|PCSK6_uc002bxa.2_Missense_Mutation_p.D577N|PCSK6_uc002bxb.2_Missense_Mutation_p.D577N|PCSK6_uc002bxc.1_Missense_Mutation_p.D577N|PCSK6_uc002bxd.1_Missense_Mutation_p.D577N|PCSK6_uc002bxe.2_Missense_Mutation_p.D577N|PCSK6_uc002bxf.1_Missense_Mutation_p.D77N	p.D577N	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		14	2043	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		577			Homo B/P.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1729G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.079399	0.94050	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	5.1	5.1	0.69264	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.88001	0.6320	M	0.92367	3.3	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.994;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.935;0.946;0.984;0.989;0.994;0.994;0.999;0.981;0.99	D	0.91069	0.4891	10	0.87932	D	0	-20.7122	17.4988	0.87726	0.0:1.0:0.0:0.0	.	577;408;577;577;576;576;577;577;576	P29122;Q59H04;P29122-2;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	N	576;576;407;576;576;411	ENSP00000305056:D576N;ENSP00000351193:D576N;ENSP00000344410:D576N;ENSP00000381243:D576N;ENSP00000332052:D411N	ENSP00000332052:D411N	D	-	1	0	PCSK6	99724053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.247000	0.78257	2.351000	0.79841	0.655000	0.94253	GAT		0.542	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_002570		6	41	0	0	0	0.001168	0	6	41		
SLC5A11	115584	broad.mit.edu	37	16	24920408	24920408	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:24920408C>T	ENST00000347898.3	+	14	2263	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S	SLC5A11_ENST00000449109.2_Silent_p.S391S|SLC5A11_ENST00000568579.1_Silent_p.S477S|SLC5A11_ENST00000424767.2_Silent_p.S512S|SLC5A11_ENST00000567758.1_Silent_p.S512S|SLC5A11_ENST00000565769.1_Silent_p.S483S|SLC5A11_ENST00000569071.1_Silent_p.S391S|SLC5A11_ENST00000539472.1_Silent_p.S483S|SLC5A11_ENST00000545376.1_Silent_p.S477S	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.S547S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AGCCACCCTCCAAGGAGATGG	0.493																																						uc002dmu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(1639-1641)TCC>TCT		solute carrier family 5 (sodium/glucose							103.0	84.0	90.0					16																	24920408		2197	4300	6497	SO:0001819	synonymous_variant	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24920408C>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1641C>T	16.37:g.24920408C>T						SLC5A11_uc002dms.2_Silent_p.S483S|SLC5A11_uc010vcd.1_Silent_p.S512S|SLC5A11_uc002dmt.2_Silent_p.S391S|SLC5A11_uc010vce.1_Silent_p.S477S|SLC5A11_uc010bxt.2_Silent_p.S483S|SLC5A11_uc002dmv.2_Silent_p.S170S	p.S547S	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	14	1873	+			547	S -> P (in Ref. 5; BAC86105).		Cytoplasmic (Potential).			Silent	SNP	ENST00000347898.3	37	c.1641C>T	CCDS10625.1																																																																																				0.493	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3		NM_052944		15	91	0	0	0	0.003163	0	15	91		
ATXN2L	11273	broad.mit.edu	37	16	28847397	28847397	+	Silent	SNP	C	C	G	rs375716328		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:28847397C>G	ENST00000336783.4	+	22	3206	c.3039C>G	c.(3037-3039)ctC>ctG	p.L1013L	ATXN2L_ENST00000325215.6_Silent_p.L1013L|ATXN2L_ENST00000382686.4_Silent_p.L1013L|ATXN2L_ENST00000570200.1_Silent_p.L1013L|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Silent_p.L1013L|ATXN2L_ENST00000564304.1_Silent_p.L1019L|ATXN2L_ENST00000340394.8_Silent_p.L1013L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1013					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.L1013L(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGCCTGCACTCTCAGCTTCCA	0.682																																						uc002drc.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(3037-3039)CTC>CTG		ataxin 2 related protein isoform A							41.0	49.0	46.0					16																	28847397		2196	4299	6495	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28847397C>G		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3039C>G	16.37:g.28847397C>G						uc010vct.1_Intron|ATXN2L_uc002drb.2_Silent_p.L1013L|ATXN2L_uc002dqy.2_Silent_p.L1013L|ATXN2L_uc002dra.2_Silent_p.L1013L|ATXN2L_uc002dqz.2_Silent_p.L1013L|ATXN2L_uc010vdb.1_Silent_p.L1019L|ATXN2L_uc002dre.2_Silent_p.L1013L|ATXN2L_uc002drf.2_Silent_p.L422L|ATXN2L_uc002drg.2_Silent_p.L296L	p.L1013L	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			22	3207	+			1013					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.3039C>G	CCDS10641.1																																																																																				0.682	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1		NM_007245		15	92	0	0	0	0.004007	0	15	92		
ATXN2L	11273	broad.mit.edu	37	16	28847414	28847414	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:28847414C>T	ENST00000336783.4	+	22	3223	c.3056C>T	c.(3055-3057)tCa>tTa	p.S1019L	ATXN2L_ENST00000325215.6_Missense_Mutation_p.S1019L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S1019L|ATXN2L_ENST00000570200.1_Missense_Mutation_p.S1019L|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.S1019L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.S1025L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.S1019L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1019					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.S1019L(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCACACCCTCACCCTACCCC	0.647																																						uc002drc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(3055-3057)TCA>TTA		ataxin 2 related protein isoform A							45.0	53.0	50.0					16																	28847414		2195	4300	6495	SO:0001583	missense	11273					membrane		g.chr16:28847414C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3056C>T	16.37:g.28847414C>T	ENSP00000338718:p.Ser1019Leu					uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.S1019L|ATXN2L_uc002dqy.2_Missense_Mutation_p.S1019L|ATXN2L_uc002dra.2_Missense_Mutation_p.S1019L|ATXN2L_uc002dqz.2_Missense_Mutation_p.S1019L|ATXN2L_uc010vdb.1_Missense_Mutation_p.S1025L|ATXN2L_uc002dre.2_Missense_Mutation_p.S1019L|ATXN2L_uc002drf.2_Missense_Mutation_p.S428L|ATXN2L_uc002drg.2_Missense_Mutation_p.S302L	p.S1019L	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			22	3224	+			1019					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.3056C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	22.7	4.319976	0.81469	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.46451	0.9;0.87;0.88;0.89;0.88	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000020	T	0.44456	0.1294	N	0.19112	0.55	0.49389	D	0.99978	P;P;P;P;P;D	0.54964	0.779;0.948;0.859;0.859;0.779;0.969	B;P;P;P;B;P	0.53313	0.262;0.533;0.448;0.448;0.262;0.723	T	0.32613	-0.9900	10	0.48119	T	0.1	-4.0363	19.1267	0.93388	0.0:1.0:0.0:0.0	.	1019;1019;1019;1019;1019;1019	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;ATX2L_HUMAN;.;.;.;.	L	1019	ENSP00000341459:S1019L;ENSP00000378917:S1019L;ENSP00000338718:S1019L;ENSP00000372133:S1019L;ENSP00000315650:S1019L	ENSP00000315650:S1019L	S	+	2	0	ATXN2L	28754915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.206000	0.72154	2.812000	0.96745	0.557000	0.71058	TCA		0.647	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1		NM_007245		21	93	0	0	0	0.016522	0	21	93		
CIAPIN1	57019	broad.mit.edu	37	16	57468081	57468081	+	Missense_Mutation	SNP	C	C	T	rs200237459		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:57468081C>T	ENST00000569979.1	-	4	477	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	CIAPIN1_ENST00000567518.1_Missense_Mutation_p.R131Q|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.R144Q|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.R144Q|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.R117Q|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.R144Q					cytokine induced apoptosis inhibitor 1									p.R144Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AAGGTGTTCTCGAACAGACTG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20905	0.0		0.001	False		,,,				2504	0.0					uc002ell.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(430-432)CGA>CAA		cytokine induced apoptosis inhibitor 1							131.0	121.0	124.0					16																	57468081		1907	4120	6027	SO:0001583	missense	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57468081C>T	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.431G>A	16.37:g.57468081C>T	ENSP00000458000:p.Arg144Gln					CIAPIN1_uc002elk.1_RNA|CIAPIN1_uc002elm.1_Missense_Mutation_p.R131Q|CIAPIN1_uc002eln.1_Missense_Mutation_p.R144Q|CIAPIN1_uc010cda.1_Missense_Mutation_p.R144Q|CIAPIN1_uc002elo.1_Missense_Mutation_p.R117Q|CIAPIN1_uc010vhm.1_Missense_Mutation_p.R144Q	p.R144Q	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN			5	602	-			144						Missense_Mutation	SNP	ENST00000569979.1	37	c.431G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.614	-0.823759	0.02755	.	.	ENSG00000005194	ENST00000394391	T	0.29142	1.58	5.28	-0.962	0.10333	.	0.615144	0.17405	N	0.175418	T	0.09730	0.0239	N	0.02721	-0.515	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.35500	-0.9786	10	0.11485	T	0.65	-0.5106	7.4128	0.27027	0.1313:0.5065:0.0:0.3622	.	144;131;144	B4DHB9;Q6FI81-3;Q6FI81	.;.;CPIN1_HUMAN	Q	144	ENSP00000377914:R144Q	ENSP00000377914:R144Q	R	-	2	0	CIAPIN1	56025582	0.000000	0.05858	0.151000	0.22473	0.004000	0.04260	-0.042000	0.12063	-0.377000	0.07930	-0.251000	0.11542	CGA		0.448	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1		NM_020313		25	158	0	0	0	0.021523	0	25	158		
CDH16	1014	broad.mit.edu	37	16	66944181	66944181	+	Missense_Mutation	SNP	G	G	A	rs140255974		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:66944181G>A	ENST00000299752.4	-	15	2342	c.2149C>T	c.(2149-2151)Cgc>Tgc	p.R717C	CDH16_ENST00000565796.1_Missense_Mutation_p.R678C|CDH16_ENST00000570262.1_Missense_Mutation_p.R637C|CDH16_ENST00000394055.3_Missense_Mutation_p.R695C|CDH16_ENST00000568632.1_Missense_Mutation_p.R620C	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	717	Ectodomain G.		R -> H (in dbSNP:rs34621310).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R717C(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCTGGAGGCGCCAATCCCGT	0.612																																						uc002eql.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2149-2151)CGC>TGC		cadherin 16 precursor		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	81.0	80.0	81.0		2083,2032,1858,2149	3.9	1.0	16	dbSNP_134	81	0,8600		0,0,4300	no	missense,missense,missense,missense	CDH16	NM_001204744.1,NM_001204745.1,NM_001204746.1,NM_004062.3	180,180,180,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	695/808,678/791,620/733,717/830	66944181	1,12999	2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66944181G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2149C>T	16.37:g.66944181G>A	ENSP00000299752:p.Arg717Cys					CDH16_uc010cdy.2_Missense_Mutation_p.R695C|CDH16_uc002eqm.2_Missense_Mutation_p.R620C	p.R717C	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	15	2222	-		Ovarian(137;0.0563)	717			Extracellular (Potential).|Ectodomain G.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.2149C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688609	0.68271	2.27E-4	0.0	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.56941	0.43;0.43	4.9	3.88	0.44766	.	0.130718	0.46145	D	0.000306	T	0.62768	0.2455	L	0.60455	1.87	0.49798	D	0.999825	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.66847	0.947;0.828;0.72	T	0.59847	-0.7377	10	0.38643	T	0.18	-8.2033	9.5158	0.39104	0.0:0.0:0.7746:0.2254	.	695;717;717	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	C	695;717;681	ENSP00000377619:R695C;ENSP00000299752:R717C	ENSP00000299752:R717C	R	-	1	0	CDH16	65501682	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.640000	0.46579	2.571000	0.86741	0.561000	0.74099	CGC		0.612	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2		NM_004062		18	61	0	0	0	0.007413	0	18	61		
KLHL36	79786	broad.mit.edu	37	16	84684521	84684521	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:84684521C>T	ENST00000564996.1	+	2	189	c.48C>T	c.(46-48)atC>atT	p.I16I	KLHL36_ENST00000258157.5_Silent_p.I16I	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	16					protein ubiquitination (GO:0016567)			p.I16I(1)		endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CATACAAGATCAGCGAATCAT	0.438																																						uc002fig.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)	2						c.(46-48)ATC>ATT		kelch-like 36							133.0	120.0	125.0					16																	84684521		2199	4300	6499	SO:0001819	synonymous_variant	79786							g.chr16:84684521C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.48C>T	16.37:g.84684521C>T						KLHL36_uc010chl.2_Silent_p.I15I	p.I16I	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN			2	189	+			16					Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	c.48C>T	CCDS10948.1																																																																																				0.438	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2				12	83	0	0	0	0.010729	0	12	83		
FAM57A	79850	broad.mit.edu	37	17	641234	641234	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:641234C>G	ENST00000308278.8	+	3	591	c.355C>G	c.(355-357)Ctc>Gtc	p.L119V	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.L119V	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	119	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L119V(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TCGAAACCGCCTCATGATCAC	0.552																																						uc002frp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(355-357)CTC>GTC		family with sequence similarity 57, member A							150.0	123.0	132.0					17																	641234		2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:641234C>G	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.355C>G	17.37:g.641234C>G	ENSP00000312017:p.Leu119Val					FAM57A_uc002frq.2_Missense_Mutation_p.L119V|FAM57A_uc002frr.2_Missense_Mutation_p.L29V	p.L119V	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	396	+			119			TLC.|Helical; (Potential).		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.355C>G	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291270	0.80914	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	D;D	0.85629	-2.01;-2.01	5.89	5.89	0.94794	TRAM/LAG1/CLN8 homology domain (3);	0.061282	0.64402	D	0.000003	D	0.92519	0.7624	M	0.75447	2.3	0.49582	D	0.999807	D;D	0.89917	0.999;1.0	D;D	0.87578	0.935;0.998	D	0.92497	0.6005	10	0.72032	D	0.01	-26.6128	19.3211	0.94240	0.0:1.0:0.0:0.0	.	119;119	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	V	119;119;192	ENSP00000312017:L119V;ENSP00000301324:L119V	ENSP00000301324:L119V	L	+	1	0	FAM57A	587984	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.373000	0.52394	2.811000	0.96726	0.638000	0.83543	CTC		0.552	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2		NM_024792		17	91	0	0	0	0.00499	0	17	91		
ASPA	443	broad.mit.edu	37	17	3402335	3402335	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:3402335A>T	ENST00000263080.2	+	6	1053	c.895A>T	c.(895-897)Act>Tct	p.T299S	ASPA_ENST00000456349.2_Missense_Mutation_p.T299S|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	299					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.T299S(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TGCAAAGACAACTAAACTAAC	0.433																																						uc010ckg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(895-897)ACT>TCT		aspartoacylase	L-Aspartic Acid(DB00128)						101.0	85.0	90.0					17																	3402335		2203	4300	6503	SO:0001583	missense	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3402335A>T	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.895A>T	17.37:g.3402335A>T	ENSP00000263080:p.Thr299Ser					SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Missense_Mutation_p.T299S	p.T299S	NM_001128085	NP_001121557	P45381	ACY2_HUMAN			7	986	+			299						Missense_Mutation	SNP	ENST00000263080.2	37	c.895A>T	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	a	8.729	0.916262	0.17907	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97642	-4.47;-4.47	5.76	3.36	0.38483	.	0.525259	0.21912	N	0.067299	D	0.90304	0.6967	N	0.14661	0.345	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.79497	-0.1779	10	0.16896	T	0.51	-15.911	6.6192	0.22794	0.632:0.2144:0.1536:0.0	.	299	P45381	ACY2_HUMAN	S	299	ENSP00000409976:T299S;ENSP00000263080:T299S	ENSP00000263080:T299S	T	+	1	0	ASPA	3349085	0.132000	0.22450	0.818000	0.32626	0.949000	0.60115	1.393000	0.34497	1.115000	0.41800	0.482000	0.46254	ACT		0.433	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1		NM_000049		5	35	0	0	0	0.001168	0	5	35		
MYH4	4622	broad.mit.edu	37	17	10366440	10366440	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:10366440G>C	ENST00000255381.2	-	10	981	c.871C>G	c.(871-873)Caa>Gaa	p.Q291E	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	291	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.Q291E(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GACAGGATTTGATAAAATATG	0.373																																						uc002gmn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(871-873)CAA>GAA		myosin, heavy polypeptide 4, skeletal muscle							99.0	98.0	99.0					17																	10366440		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10366440G>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.871C>G	17.37:g.10366440G>C	ENSP00000255381:p.Gln291Glu					uc002gml.1_Intron	p.Q291E	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			10	982	-			291			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.871C>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734749	0.89482	.	.	ENSG00000141048	ENST00000255381	D	0.89485	-2.52	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.000000	0.35903	U	0.002914	D	0.96244	0.8775	M	0.94142	3.5	0.80722	D	1	D	0.58620	0.983	D	0.71414	0.973	D	0.97004	0.9731	10	0.87932	D	0	.	19.4676	0.94950	0.0:0.0:1.0:0.0	.	291	Q9Y623	MYH4_HUMAN	E	291	ENSP00000255381:Q291E	ENSP00000255381:Q291E	Q	-	1	0	MYH4	10307165	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.806000	0.99153	2.666000	0.90696	0.650000	0.86243	CAA		0.373	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1		NM_017533		22	68	0	0	0	0.012319	0	22	68		
NUFIP2	57532	broad.mit.edu	37	17	27613535	27613535	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:27613535G>C	ENST00000225388.4	-	2	1535	c.1477C>G	c.(1477-1479)Cag>Gag	p.Q493E	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	493						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q493E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGATCTGTCTGAGAGGGCAGA	0.438																																						uc002hdy.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|breast(1)	4						c.(1477-1479)CAG>GAG		nuclear fragile X mental retardation protein							62.0	62.0	62.0					17																	27613535		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613535G>C	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1477C>G	17.37:g.27613535G>C	ENSP00000225388:p.Gln493Glu					NUFIP2_uc002hdx.3_Intron	p.Q493E	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1566	-			493					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.1477C>G	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656855	0.29425	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.34521	1.04	0.80722	D	1	B	0.32101	0.356	B	0.33454	0.164	T	0.52388	-0.8582	9	0.62326	D	0.03	0.2242	15.0536	0.71894	0.0:0.0:0.7415:0.2585	.	493	Q7Z417	NUFP2_HUMAN	E	493	.	ENSP00000225388:Q493E	Q	-	1	0	NUFIP2	24637661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.980000	0.70516	1.561000	0.49584	0.655000	0.94253	CAG		0.438	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2		NM_020772		12	62	0	0	0	0.013537	0	12	62		
SYNRG	11276	broad.mit.edu	37	17	35913327	35913327	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:35913327G>C	ENST00000339208.6	-	14	2638	c.2498C>G	c.(2497-2499)tCt>tGt	p.S833C	SYNRG_ENST00000588194.1_5'Flank|SYNRG_ENST00000345615.4_Missense_Mutation_p.S755C|SYNRG_ENST00000591288.1_Missense_Mutation_p.S672C|SYNRG_ENST00000346661.4_Missense_Mutation_p.S833C|SYNRG_ENST00000502449.2_Missense_Mutation_p.S755C|SYNRG_ENST00000394378.2_Missense_Mutation_p.S755C|SYNRG_ENST00000585472.1_Missense_Mutation_p.S754C	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	833					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.S833C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAACTGAACAGAGAGTGCATC	0.463																																						uc002hoa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2497-2499)TCT>TGT		synergin, gamma isoform 1							140.0	124.0	129.0					17																	35913327		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35913327G>C	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2498C>G	17.37:g.35913327G>C	ENSP00000343610:p.Ser833Cys					SYNRG_uc010wde.1_Missense_Mutation_p.S755C|SYNRG_uc010wdf.1_Missense_Mutation_p.S755C|SYNRG_uc002hoc.2_Missense_Mutation_p.S754C|SYNRG_uc002hoe.2_Missense_Mutation_p.S755C|SYNRG_uc002hod.2_Missense_Mutation_p.S755C|SYNRG_uc010wdg.1_Missense_Mutation_p.S672C|SYNRG_uc002hob.2_Missense_Mutation_p.S833C|SYNRG_uc002hof.2_Missense_Mutation_p.S545C|SYNRG_uc010cvd.1_Missense_Mutation_p.S633C	p.S833C	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			14	2581	-			833					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.2498C>G	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888992	0.72524	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.62232	0.62;0.04;0.09	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	M	0.63843	1.955	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	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	T	0.78368	-0.2231	10	0.72032	D	0.01	-21.242	19.5705	0.95413	0.0:0.0:1.0:0.0	.	672;755;755;755;833;833	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	C	833;672;833;755;755	ENSP00000005279:S833C;ENSP00000424893:S755C;ENSP00000377903:S755C	ENSP00000343610:S672C	S	-	2	0	SYNRG	32987440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	TCT		0.463	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2		NM_007247		12	72	0	0	0	0.013537	0	12	72		
LEPREL4	10609	broad.mit.edu	37	17	39967426	39967426	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:39967426G>A	ENST00000355468.3	-	3	1039	c.573C>T	c.(571-573)gtC>gtT	p.V191V	FKBP10_ENST00000321562.4_5'Flank|LEPREL4_ENST00000393928.1_Silent_p.V191V			Q92791	SC65_HUMAN	leprecan-like 4	191					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)		p.V191V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						ACTCGTCGGCGACGTCCAGCA	0.627																																						uc002hxt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(571-573)GTC>GTT		synaptonemal complex protein SC65							166.0	171.0	169.0					17																	39967426		2203	4300	6503	SO:0001819	synonymous_variant	10609				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	g.chr17:39967426G>A	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.573C>T	17.37:g.39967426G>A						FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Silent_p.V282V	p.V191V	NM_006455	NP_006446	Q92791	SC65_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.149)	2	857	-		Breast(137;0.000162)	191					Q53GI6|Q9H4F6	Silent	SNP	ENST00000355468.3	37	c.573C>T	CCDS11408.1																																																																																				0.627	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2				38	227	0	0	0	0.010771	0	38	227		
TTC25	83538	broad.mit.edu	37	17	40093047	40093047	+	RNA	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:40093047G>A	ENST00000591658.1	+	0	560							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)		p.M164I(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CTCAGCCCATGAAACACCTCT	0.552																																						uc002hyj.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(490-492)ATG>ATA		tetratricopeptide repeat domain 25							70.0	72.0	72.0					17																	40093047		1901	4120	6021			83538					cytoplasm	protein binding	g.chr17:40093047G>A	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40093047G>A						TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.M164I	p.M164I	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN			5	581	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)	164					Q6NX40|Q6PJ04|Q9H0K5	Missense_Mutation	SNP	ENST00000591658.1	37	c.492G>A		.	.	.	.	.	.	.	.	.	.	G	11.96	1.793520	0.31685	.	.	ENSG00000204815	ENST00000377540	.	.	.	6.04	4.0	0.46444	.	1.065370	0.07134	N	0.846021	T	0.39200	0.1069	L	0.44542	1.39	0.24983	N	0.991589	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.38908	-0.9639	8	0.17832	T	0.49	-7.9691	7.4379	0.27166	0.0691:0.1528:0.6682:0.1098	.	164;164	C9JGW6;Q96NG3	.;TTC25_HUMAN	I	164	.	ENSP00000366763:M164I	M	+	3	0	AC091172.1	37346573	0.579000	0.26725	0.119000	0.21687	0.173000	0.22820	0.900000	0.28431	0.847000	0.35167	0.561000	0.74099	ATG		0.552	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1		NM_031421		13	62	0	0	0	0.013537	0	13	62		
EFTUD2	9343	broad.mit.edu	37	17	42937868	42937868	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:42937868G>A	ENST00000426333.2	-	17	1948	c.1651C>T	c.(1651-1653)Ctg>Ttg	p.L551L	EFTUD2_ENST00000592576.1_Silent_p.L541L|EFTUD2_ENST00000402521.3_Silent_p.L516L|EFTUD2_ENST00000591382.1_Silent_p.L551L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	551					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.L551L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCTTCAATCAGAACCCAGTTG	0.478																																					Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1651-1653)CTG>TTG		elongation factor Tu GTP binding domain							169.0	137.0	148.0					17																	42937868		2203	4300	6503	SO:0001819	synonymous_variant	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42937868G>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1651C>T	17.37:g.42937868G>A						EFTUD2_uc010wje.1_Silent_p.L516L|EFTUD2_uc010wjf.1_Silent_p.L541L	p.L551L	NM_004247	NP_004238	Q15029	U5S1_HUMAN			17	1912	-		Prostate(33;0.109)	551					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	ENST00000426333.2	37	c.1651C>T	CCDS11489.1																																																																																				0.478	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1		NM_004247		16	89	0	0	0	0.004007	0	16	89		
CBX4	8535	broad.mit.edu	37	17	77809510	77809510	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:77809510C>T	ENST00000269397.4	-	4	358	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	CBX4_ENST00000448310.1_Intron	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	61	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.E61K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTGCCGTTCCCTGGGTGGG	0.637											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jxe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(181-183)GAA>AAA		chromobox homolog 4							64.0	49.0	54.0					17																	77809510		2203	4300	6503	SO:0001630	splice_region_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77809510C>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.180-1G>A	17.37:g.77809510C>T			OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.E61K	NM_003655	NP_003646	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	344	-			61			Chromo.|Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.181G>A	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120561	0.77323	.	.	ENSG00000141582	ENST00000269397;ENST00000343048	T	0.59502	0.26	4.59	4.59	0.56863	Chromo domain-like (1);Chromo domain/shadow (2);	0.065669	0.64402	U	0.000016	T	0.66829	0.2829	L	0.43646	1.37	0.80722	D	1	D	0.61080	0.989	P	0.60068	0.868	T	0.71272	-0.4642	10	0.72032	D	0.01	-0.6955	17.0058	0.86392	0.0:1.0:0.0:0.0	.	61	O00257	CBX4_HUMAN	K	61	ENSP00000269397:E61K	ENSP00000269397:E61K	E	-	1	0	CBX4	75424105	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.125000	0.77193	2.108000	0.64289	0.462000	0.41574	GAA		0.637	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1		NM_003655	Missense_Mutation	3	10	0	0	0	0.004672	0	3	10		
B3GNTL1	146712	broad.mit.edu	37	17	81006556	81006556	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:81006556C>T	ENST00000320865.3	-	2	179	c.166G>A	c.(166-168)Gat>Aat	p.D56N	B3GNTL1_ENST00000576599.1_5'UTR|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	56							transferase activity, transferring glycosyl groups (GO:0016757)	p.D56N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTACTGGCATCATTGAAAACA	0.507																																						uc002kgg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(166-168)GAT>AAT		UDP-GlcNAc:betaGal							99.0	93.0	95.0					17																	81006556		2203	4300	6503	SO:0001583	missense	146712						transferase activity, transferring glycosyl groups	g.chr17:81006556C>T	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.166G>A	17.37:g.81006556C>T	ENSP00000319979:p.Asp56Asn					B3GNTL1_uc002kgf.1_5'UTR	p.D56N	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	180	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	56					Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	c.166G>A	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229001	0.58777	.	.	ENSG00000175711	ENST00000320865	T	0.74421	-0.84	4.16	4.16	0.48862	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.86497	0.5947	M	0.86502	2.82	0.58432	D	0.999999	D	0.65815	0.995	D	0.77004	0.989	D	0.88028	0.2773	9	.	.	.	-17.7424	12.6634	0.56826	0.0:1.0:0.0:0.0	.	56	Q67FW5	B3GNL_HUMAN	N	56	ENSP00000319979:D56N	.	D	-	1	0	B3GNTL1	78599845	1.000000	0.71417	0.936000	0.37596	0.070000	0.16714	5.695000	0.68279	2.246000	0.74042	0.467000	0.42956	GAT		0.507	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1		NM_001009905		30	102	0	0	0	0.009535	0	30	102		
LAMA3	3909	broad.mit.edu	37	18	21492790	21492790	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr18:21492790C>G	ENST00000313654.9	+	56	7515	c.7274C>G	c.(7273-7275)tCa>tGa	p.S2425*	LAMA3_ENST00000269217.6_Nonsense_Mutation_p.S816*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.S2369*|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.S760*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2425	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.S2425*(1)|p.S816*(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGGCCCAACTCAAGAGAAAAT	0.388																																						uc002kuq.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(7273-7275)TCA>TGA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						124.0	119.0	121.0					18																	21492790		2203	4300	6503	SO:0001587	stop_gained	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21492790C>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7274C>G	18.37:g.21492790C>G	ENSP00000324532:p.Ser2425*					LAMA3_uc002kur.2_Nonsense_Mutation_p.S2369*|LAMA3_uc002kus.3_Nonsense_Mutation_p.S816*|LAMA3_uc002kut.3_Nonsense_Mutation_p.S760*	p.S2425*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			56	7360	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2425			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.7274C>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	47	13.525356	0.99747	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.64	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	6.8049	0.23772	0.1177:0.6496:0.0:0.2327	.	.	.	.	X	2425;2369;816	.	ENSP00000269217:S816X	S	+	2	0	LAMA3	19746788	0.000000	0.05858	0.001000	0.08648	0.789000	0.44602	0.065000	0.14466	0.047000	0.15862	0.655000	0.94253	TCA		0.388	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		16	87	0	0	0	0.004007	0	16	87		
KIAA1468	57614	broad.mit.edu	37	18	59855016	59855016	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr18:59855016C>G	ENST00000398130.2	+	1	510	c.278C>G	c.(277-279)tCa>tGa	p.S93*	PIGN_ENST00000593225.1_5'Flank|PIGN_ENST00000357637.5_5'Flank|KIAA1468_ENST00000256858.6_Nonsense_Mutation_p.S93*|PIGN_ENST00000400334.3_5'Flank	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	93								p.S93*(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GCCCGATTATCAATTGATGCG	0.672																																						uc002lil.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(277-279)TCA>TGA		hypothetical protein LOC57614							9.0	11.0	10.0					18																	59855016		1941	4123	6064	SO:0001587	stop_gained	57614						binding	g.chr18:59855016C>G	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.278C>G	18.37:g.59855016C>G	ENSP00000381198:p.Ser93*					PIGN_uc002lii.3_5'Flank|PIGN_uc002lij.3_5'Flank|KIAA1468_uc002lik.1_Nonsense_Mutation_p.S93*|KIAA1468_uc010xel.1_Nonsense_Mutation_p.S93*	p.S93*	NM_020854	NP_065905	Q9P260	K1468_HUMAN			1	493	+		Colorectal(73;0.186)	93						Nonsense_Mutation	SNP	ENST00000398130.2	37	c.278C>G	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	40	8.308737	0.98752	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.17	5.17	0.71159	.	0.098818	0.42821	U	0.000650	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.6094	18.4832	0.90819	0.0:1.0:0.0:0.0	.	.	.	.	X	93	.	.	S	+	2	0	KIAA1468	58005996	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	6.590000	0.74085	2.692000	0.91855	0.655000	0.94253	TCA		0.672	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1		NM_020854		3	11	0	0	0	0.009096	0	3	11		
CD209	30835	broad.mit.edu	37	19	7810765	7810765	+	Silent	SNP	C	C	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:7810765C>A	ENST00000315599.7	-	4	409	c.387G>T	c.(385-387)cgG>cgT	p.R129R	CD209_ENST00000593821.1_Silent_p.R85R|CD209_ENST00000301357.8_Silent_p.R85R|CD209_ENST00000602261.1_Silent_p.R129R|CD209_ENST00000601951.1_Silent_p.R105R|CD209_ENST00000315591.8_Silent_p.R105R|CD209_ENST00000601256.1_Silent_p.R105R|CD209_ENST00000204801.8_Silent_p.R85R|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Silent_p.R129R|CD209_ENST00000593660.1_Silent_p.R105R	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129R(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGCCTTCAGCCGGGTCAGCT	0.567																																						uc002mht.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(1)	1						c.(385-387)CGG>CGT		CD209 molecule isoform 1							87.0	90.0	89.0					19																	7810765		2203	4297	6500	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810765C>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.387G>T	19.37:g.7810765C>A						CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.R105R|CD209_uc002mhr.2_Silent_p.R105R|CD209_uc002mhs.2_Silent_p.R105R|CD209_uc002mhu.2_Silent_p.R129R|CD209_uc010dvq.2_Silent_p.R129R|CD209_uc002mhq.2_Silent_p.R129R|CD209_uc002mhv.2_Silent_p.R105R|CD209_uc002mhx.2_Silent_p.R85R|CD209_uc002mhw.2_Silent_p.R85R|CD209_uc010dvr.2_Intron	p.R129R	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			4	454	-			129			Extracellular (Probable).|2.|7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.387G>T	CCDS12186.1																																																																																				0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1		NM_021155		40	164	1	0	1.22674e-20	0.00874	1.3267e-20	40	164		
ZBTB32	27033	broad.mit.edu	37	19	36206379	36206379	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:36206379G>A	ENST00000392197.2	+	3	1169	c.851G>A	c.(850-852)gGa>gAa	p.G284E	KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000607650.1_RNA|ZBTB32_ENST00000262630.3_Missense_Mutation_p.G284E			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	284					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G284E(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCACCACTGGAGCCTGGCAG	0.672																																						uc002oay.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(850-852)GGA>GAA		zinc finger and BTB domain containing 32							43.0	48.0	46.0					19																	36206379		2066	4077	6143	SO:0001583	missense	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36206379G>A	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.851G>A	19.37:g.36206379G>A	ENSP00000376035:p.Gly284Glu					ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank	p.G284E	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	1061	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		284					Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	c.851G>A	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843807	0.71488	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.08458	3.09;3.09	5.39	-1.5	0.08691	.	0.306642	0.23826	N	0.044190	T	0.05456	0.0144	L	0.27053	0.805	0.24157	N	0.99567	B	0.27882	0.192	B	0.28139	0.086	T	0.38824	-0.9643	10	0.33141	T	0.24	-1.8575	10.1254	0.42646	0.0941:0.6501:0.2557:0.0	.	284	Q9Y2Y4	ZBT32_HUMAN	E	284	ENSP00000262630:G284E;ENSP00000376035:G284E	ENSP00000262630:G284E	G	+	2	0	ZBTB32	40898219	0.980000	0.34600	0.963000	0.40424	0.932000	0.56968	0.100000	0.15231	0.206000	0.20587	0.655000	0.94253	GGA		0.672	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3		NM_014383		22	100	0	0	0	0.016522	0	22	100		
C19orf54	284325	broad.mit.edu	37	19	41248515	41248515	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:41248515C>T	ENST00000378313.2	-	6	998	c.879G>A	c.(877-879)aaG>aaA	p.K293K	C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Silent_p.K121K|C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598729.1_Silent_p.K121K	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	293								p.K293K(1)|p.R152K(1)|p.R152T(1)		breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGTGCCAACTCTTGCCCTGCT	0.662																																						uc002oou.1		NaN																	3	Substitution - Missense(2)|Substitution - coding silent(1)		urinary_tract(2)|breast(1)		0						c.(877-879)AAG>AAA		hypothetical protein LOC284325							49.0	42.0	45.0					19																	41248515		2203	4300	6503	SO:0001819	synonymous_variant	284325							g.chr19:41248515C>T	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.879G>A	19.37:g.41248515C>T						C19orf54_uc002oow.1_Silent_p.K121K|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA	p.K293K	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	999	-			293					A8MSZ5|B4DNU7	Silent	SNP	ENST00000378313.2	37	c.879G>A	CCDS12564.2																																																																																				0.662	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1		NM_198476		3	26	0	0	0	0.004672	0	3	26		
SIGLEC8	27181	broad.mit.edu	37	19	51958721	51958721	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:51958721C>T	ENST00000321424.3	-	4	1068	c.1002G>A	c.(1000-1002)caG>caA	p.Q334Q	SIGLEC8_ENST00000430817.1_Silent_p.Q225Q|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Silent_p.Q241Q	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	334	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.Q334Q(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTGGGAGCCCTGAGCGTTCT	0.632																																						uc002pwt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1000-1002)CAG>CAA		sialic acid binding Ig-like lectin 8 precursor							56.0	54.0	55.0					19																	51958721		2203	4300	6503	SO:0001819	synonymous_variant	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958721C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1002G>A	19.37:g.51958721C>T						SIGLEC8_uc010yda.1_Silent_p.Q225Q|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.Q241Q	p.Q334Q	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	1069	-		all_neural(266;0.0199)	334			Extracellular (Potential).|Ig-like C2-type 2.		Q7Z728	Silent	SNP	ENST00000321424.3	37	c.1002G>A	CCDS33086.1																																																																																				0.632	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2		NM_014442		5	42	0	0	0	0.001168	0	5	42		
ZNF613	79898	broad.mit.edu	37	19	52448817	52448817	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:52448817G>T	ENST00000293471.6	+	6	2360	c.1681G>T	c.(1681-1683)Gat>Tat	p.D561Y	ZNF613_ENST00000601794.1_Intron|ZNF613_ENST00000391794.4_Missense_Mutation_p.D525Y	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	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)	p.D561Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ACATACACGTGATCTCATACA	0.428																																						uc002pxz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1681-1683)GAT>TAT		zinc finger protein 613 isoform 1							101.0	82.0	89.0					19																	52448817		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448817G>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1681G>T	19.37:g.52448817G>T	ENSP00000293471:p.Asp561Tyr					ZNF613_uc002pya.1_Missense_Mutation_p.D525Y	p.D561Y	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	2104	+		all_neural(266;0.117)	561					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1681G>T	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921679	0.33908	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.06449	3.4;3.3	3.58	2.53	0.30540	.	2.001970	0.02604	N	0.101349	T	0.05777	0.0151	N	0.19112	0.55	0.09310	N	1	P	0.52842	0.956	P	0.44732	0.459	T	0.31138	-0.9954	10	0.15499	T	0.54	.	5.1874	0.15191	0.1176:0.2116:0.6708:0.0	.	561	Q6PF04	ZN613_HUMAN	Y	561;525;235	ENSP00000293471:D561Y;ENSP00000375671:D525Y	ENSP00000293471:D561Y	D	+	1	0	ZNF613	57140629	0.000000	0.05858	0.007000	0.13788	0.075000	0.17131	0.225000	0.17757	0.846000	0.35142	0.655000	0.94253	GAT		0.428	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2		NM_024840		4	44	1	0	2.56e-06	0.009096	2.72818e-06	4	44		
ZNF765	91661	broad.mit.edu	37	19	53912233	53912233	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:53912233C>T	ENST00000396408.3	+	4	1542	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	475					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.F475F(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GCAAGACCTTCAGCCGGACGT	0.378																																						uc010ydx.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1423-1425)TTC>TTT		zinc finger protein 765							101.0	106.0	104.0					19																	53912233		2202	4300	6502	SO:0001819	synonymous_variant	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912233C>T	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1425C>T	19.37:g.53912233C>T						ZNF765_uc002qbm.2_Silent_p.F475F|ZNF765_uc002qbn.2_Intron	p.F475F	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	6	1752	+			475			C2H2-type 10.		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Silent	SNP	ENST00000396408.3	37	c.1425C>T	CCDS46171.1																																																																																				0.378	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1		NM_138372		11	87	0	0	0	0.013537	0	11	87		
ZNF765	91661	broad.mit.edu	37	19	53912261	53912261	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:53912261C>T	ENST00000396408.3	+	4	1570	c.1453C>T	c.(1453-1455)Cat>Tat	p.H485Y	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	485					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.H485Y(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TACATACCATCATAGACTTCA	0.373																																						uc010ydx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1453-1455)CAT>TAT		zinc finger protein 765							85.0	89.0	88.0					19																	53912261		2201	4300	6501	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912261C>T	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1453C>T	19.37:g.53912261C>T	ENSP00000379689:p.His485Tyr					ZNF765_uc002qbm.2_Missense_Mutation_p.H485Y|ZNF765_uc002qbn.2_Intron	p.H485Y	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	6	1780	+			485			C2H2-type 10.		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.1453C>T	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	-	4.692	0.128630	0.08981	.	.	ENSG00000196417	ENST00000396408	T	0.35973	1.28	1.19	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18882	0.0453	N	0.16567	0.415	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.25328	-1.0135	8	.	.	.	.	5.2912	0.15727	0.0:0.7831:0.0:0.2169	.	485	Q7L2R6	ZN765_HUMAN	Y	485	ENSP00000379689:H485Y	.	H	+	1	0	ZNF765	58604073	0.002000	0.14202	0.001000	0.08648	0.037000	0.13140	0.212000	0.17497	0.600000	0.29862	0.176000	0.17051	CAT		0.373	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1		NM_138372		6	81	0	0	0	0.00308	0	6	81		
PXDN	7837	broad.mit.edu	37	2	1670223	1670223	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:1670223C>G	ENST00000252804.4	-	10	1104	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	352	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.E352Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACCAGCACCTCTGTATTCTGT	0.532																																						uc002qxa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(6)|ovary(2)	8						c.(1054-1056)GAG>CAG		peroxidasin precursor							25.0	28.0	27.0					2																	1670223		2000	4162	6162	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1670223C>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1054G>C	2.37:g.1670223C>G	ENSP00000252804:p.Glu352Gln					PXDN_uc002qxb.1_Missense_Mutation_p.E352Q|PXDN_uc002qxc.1_Missense_Mutation_p.E169Q	p.E352Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	10	1118	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	352			Ig-like C2-type 2.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1054G>C	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.569380|4.569380	0.86439|0.86439	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.68765|.	-0.35|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.123855|.	0.53938|.	D|.	0.000044|.	T|T	0.56352|0.56352	0.1979|0.1979	L|L	0.31420|0.31420	0.93|0.93	0.52501|0.52501	D|D	0.999955|0.999955	P;P|.	0.51449|.	0.945;0.72|.	P;P|.	0.53224|.	0.721;0.718|.	T|T	0.52358|0.52358	-0.8586|-0.8586	10|5	0.44086|.	T|.	0.13|.	-42.1535|-42.1535	16.6763|16.6763	0.85280|0.85280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	352;352|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	Q|H	352|347	ENSP00000252804:E352Q|.	ENSP00000252804:E352Q|.	E|Q	-|-	1|3	0|2	PXDN|PXDN	1649230|1649230	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	7.744000|7.744000	0.85034|0.85034	2.369000|2.369000	0.80426|0.80426	0.655000|0.655000	0.94253|0.94253	GAG|CAG		0.532	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455		6	17	0	0	0	0.00308	0	6	17		
NRBP1	29959	broad.mit.edu	37	2	27656553	27656553	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:27656553A>G	ENST00000233557.3	+	4	1056	c.224A>G	c.(223-225)aAt>aGt	p.N75S	NRBP1_ENST00000379863.3_Missense_Mutation_p.N75S|NRBP1_ENST00000379852.3_Missense_Mutation_p.N75S			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.N75S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AATCAACGGAATGTACCAGGT	0.418																																						uc002rko.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)	3						c.(223-225)AAT>AGT		nuclear receptor binding protein							103.0	99.0	100.0					2																	27656553		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27656553A>G	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.224A>G	2.37:g.27656553A>G	ENSP00000233557:p.Asn75Ser					NRBP1_uc002rkq.2_Missense_Mutation_p.N75S|NRBP1_uc002rkp.2_Missense_Mutation_p.N75S|NRBP1_uc002rkr.2_5'Flank	p.N75S	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN			4	1056	+	Acute lymphoblastic leukemia(172;0.155)		75			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.224A>G	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315692	0.81469	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863;ENST00000419281;ENST00000356442	D;D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2;-5.2	5.26	5.26	0.73747	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97923	0.9317	L	0.57536	1.79	0.58432	D	0.999999	P;P	0.46395	0.845;0.877	P;P	0.52881	0.712;0.519	D	0.98374	1.0555	10	0.09338	T	0.73	-10.3267	13.9748	0.64265	1.0:0.0:0.0:0.0	.	75;75	F8W6G1;Q9UHY1	.;NRBP_HUMAN	S	75;55;75;75;75;75	ENSP00000233557:N75S;ENSP00000369181:N75S;ENSP00000369192:N75S;ENSP00000403916:N75S;ENSP00000415406:N75S	ENSP00000233557:N75S	N	+	2	0	NRBP1	27510057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.847000	0.92166	1.988000	0.58038	0.459000	0.35465	AAT		0.418	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1		NM_013392		9	80	0	0	0	0.004482	0	9	80		
BIRC6	57448	broad.mit.edu	37	2	32694656	32694656	+	Silent	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:32694656A>G	ENST00000421745.2	+	30	6455	c.6321A>G	c.(6319-6321)gaA>gaG	p.E2107E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2107					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.E2107E(1)|p.E2079E(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAATTCGGAACAGCTTCTCA	0.388																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(6319-6321)GAA>GAG		baculoviral IAP repeat-containing 6							254.0	248.0	250.0					2																	32694656		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32694656A>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6321A>G	2.37:g.32694656A>G							p.E2107E	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			30	6455	+	Acute lymphoblastic leukemia(172;0.155)		2107					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.6321A>G	CCDS33175.2																																																																																				0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		20	167	0	0	0	0.007413	0	20	167		
LTBP1	4052	broad.mit.edu	37	2	33500072	33500072	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:33500072G>C	ENST00000404816.2	+	17	3137	c.2784G>C	c.(2782-2784)caG>caC	p.Q928H	LTBP1_ENST00000354476.3_Missense_Mutation_p.Q929H|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q602H|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q549H|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q603H|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q602H|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q549H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	928	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.Q929H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCTGCTCCCAGGGCCGCTGTG	0.438																																						uc002ros.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2785-2787)CAG>CAC		latent transforming growth factor beta binding							107.0	104.0	105.0					2																	33500072		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33500072G>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2784G>C	2.37:g.33500072G>C	ENSP00000386043:p.Gln928His					LTBP1_uc002rot.2_Missense_Mutation_p.Q603H|LTBP1_uc002rou.2_Missense_Mutation_p.Q602H|LTBP1_uc002rov.2_Missense_Mutation_p.Q549H|LTBP1_uc010ymz.1_Missense_Mutation_p.Q602H|LTBP1_uc010yna.1_Missense_Mutation_p.Q549H	p.Q929H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			17	2787	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	928			EGF-like 5; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2787G>C	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627825	0.28978	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.95588	-2.24;-2.24;-2.99;-2.24;-3.75;-2.99;-2.99	5.77	1.88	0.25563	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.86385	0.5920	N	0.05574	-0.02	0.80722	D	1	B;B;B;B;B;B	0.12013	0.005;0.004;0.002;0.002;0.004;0.004	B;B;B;B;B;B	0.13407	0.009;0.003;0.007;0.004;0.004;0.005	T	0.75028	-0.3462	9	0.41790	T	0.15	.	4.2968	0.10906	0.0691:0.3128:0.2831:0.335	.	928;602;549;602;603;929	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	H	928;929;603;602;549;549;602	ENSP00000386043:Q928H;ENSP00000346467:Q929H;ENSP00000374653:Q603H;ENSP00000393057:Q602H;ENSP00000384373:Q549H;ENSP00000385359:Q549H;ENSP00000384091:Q602H	ENSP00000346467:Q929H	Q	+	3	2	LTBP1	33353576	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	1.407000	0.34657	0.065000	0.16485	0.650000	0.86243	CAG		0.438	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2		NM_206943		24	84	0	0	0	0.021523	0	24	84		
C2orf42	54980	broad.mit.edu	37	2	70409093	70409093	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:70409093T>C	ENST00000264434.2	-	3	404	c.25A>G	c.(25-27)Aaa>Gaa	p.K9E	C2orf42_ENST00000420306.1_Missense_Mutation_p.K9E|C2orf42_ENST00000470096.1_5'UTR	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	9								p.K9E(1)		endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GCTGGGACTTTAGTCCTCAGA	0.438																																						uc002sgh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(25-27)AAA>GAA		hypothetical protein LOC54980							31.0	30.0	30.0					2																	70409093		2203	4300	6503	SO:0001583	missense	54980							g.chr2:70409093T>C	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.25A>G	2.37:g.70409093T>C	ENSP00000264434:p.Lys9Glu						p.K9E	NM_017880	NP_060350	Q9NWW7	CB042_HUMAN			3	353	-			9					D6W5G3|Q9H629	Missense_Mutation	SNP	ENST00000264434.2	37	c.25A>G	CCDS1899.1	.	.	.	.	.	.	.	.	.	.	t	18.77	3.694192	0.68386	.	.	ENSG00000115998	ENST00000264434;ENST00000420306;ENST00000447804;ENST00000417865;ENST00000419381;ENST00000457952;ENST00000428010;ENST00000425268;ENST00000428751;ENST00000417203	T;T	0.46819	0.86;0.86	5.07	5.07	0.68467	.	0.165250	0.53938	D	0.000052	T	0.49813	0.1579	L	0.44542	1.39	0.38524	D	0.948808	D	0.56287	0.975	P	0.50049	0.629	T	0.57797	-0.7749	10	0.66056	D	0.02	-17.7028	13.8606	0.63557	0.0:0.0:0.0:1.0	.	9	Q9NWW7	CB042_HUMAN	E	9	ENSP00000264434:K9E;ENSP00000404515:K9E	ENSP00000264434:K9E	K	-	1	0	C2orf42	70262597	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.890000	0.69774	2.130000	0.65690	0.468000	0.43344	AAA		0.438	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1		NM_017880		13	46	0	0	0	0.003163	0	13	46		
AFF3	3899	broad.mit.edu	37	2	100167951	100167951	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:100167951G>A	ENST00000409236.2	-	23	3778	c.3666C>T	c.(3664-3666)agC>agT	p.S1222S	AFF3_ENST00000356421.2_Silent_p.S1247S|AFF3_ENST00000317233.4_Silent_p.S1222S|AFF3_ENST00000409579.1_Silent_p.S1247S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1222					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S1247S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACAGGTGGGCGCTGTTCCGCA	0.612																																						uc002tag.2		NaN																	1	Substitution - coding silent(1)	p.G1222>V(1)	urinary_tract(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(3664-3666)AGC>AGT		AF4/FMR2 family, member 3 isoform 1							40.0	38.0	39.0					2																	100167951		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100167951G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3666C>T	2.37:g.100167951G>A						AFF3_uc002taf.2_Silent_p.S1247S	p.S1222S	NM_002285	NP_002276	P51826	AFF3_HUMAN			24	3902	-			1222					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.3666C>T	CCDS42723.1																																																																																				0.612	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		7	20	0	0	0	0.001984	0	7	20		
GCC2	9648	broad.mit.edu	37	2	109102293	109102293	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:109102293G>A	ENST00000309863.6	+	15	4435	c.3721G>A	c.(3721-3723)Gat>Aat	p.D1241N		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1241					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.D1241N(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATAGGAAACTGATCACTTAAT	0.274																																						uc002tec.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(3721-3723)GAT>AAT		GRIP and coiled-coil domain-containing 2							26.0	29.0	28.0					2																	109102293		2199	4293	6492	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109102293G>A	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3721G>A	2.37:g.109102293G>A	ENSP00000307939:p.Asp1241Asn					GCC2_uc002ted.2_Missense_Mutation_p.D1140N	p.D1241N	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			15	3875	+			1241			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3721G>A	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383612	0.42207	.	.	ENSG00000135968	ENST00000309863	T	0.32272	1.46	5.54	4.65	0.58169	.	0.203073	0.43260	D	0.000583	T	0.26304	0.0642	L	0.41824	1.3	0.43287	D	0.995267	B	0.06786	0.001	B	0.08055	0.003	T	0.02885	-1.1098	10	0.26408	T	0.33	.	15.3063	0.73995	0.0708:0.0:0.9292:0.0	.	1241	Q8IWJ2	GCC2_HUMAN	N	1241	ENSP00000307939:D1241N	ENSP00000307939:D1241N	D	+	1	0	GCC2	108468725	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.882000	0.56160	2.769000	0.95229	0.563000	0.77884	GAT		0.274	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635		3	26	0	0	0	0.004672	0	3	26		
XIRP2	129446	broad.mit.edu	37	2	168106607	168106607	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:168106607A>G	ENST00000409195.1	+	9	8794	c.8705A>G	c.(8704-8706)aAg>aGg	p.K2902R	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2902R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2680R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2727					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.K2902R(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTCGAAGTCAAGGGCATACAA	0.378																																						uc002udx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8704-8706)AAG>AGG		xin actin-binding repeat containing 2 isoform 1							77.0	73.0	74.0					2																	168106607		1826	4082	5908	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106607A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8705A>G	2.37:g.168106607A>G	ENSP00000386840:p.Lys2902Arg					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2727R|XIRP2_uc010fpq.2_Missense_Mutation_p.K2680R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.K248R	p.K2902R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8723	+			2727					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8705A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.286688	0.23478	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02812	4.15;4.15;4.15	6.02	3.7	0.42460	.	0.408176	0.27581	N	0.018721	T	0.03783	0.0107	L	0.53249	1.67	0.41036	D	0.985193	B;B;B	0.33448	0.289;0.412;0.412	B;B;B	0.32583	0.045;0.09;0.148	T	0.44922	-0.9296	10	0.52906	T	0.07	-13.9369	7.8795	0.29614	0.8385:0.0:0.1615:0.0	.	2727;2727;2680	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	2902;2902;2680;316	ENSP00000386840:K2902R;ENSP00000295237:K2902R;ENSP00000387255:K2680R	ENSP00000295237:K2902R	K	+	2	0	XIRP2	167814853	0.947000	0.32204	1.000000	0.80357	0.471000	0.32888	2.310000	0.43708	1.112000	0.41740	0.533000	0.62120	AAG		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		12	30	0	0	0	0.010729	0	12	30		
SSB	6741	broad.mit.edu	37	2	170666827	170666827	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:170666827A>C	ENST00000409333.1	+	9	951	c.704A>C	c.(703-705)aAa>aCa	p.K235T	SSB_ENST00000260956.4_Missense_Mutation_p.K235T|METTL5_ENST00000409837.1_3'UTR			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	235					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.K235T(1)		endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCTTGCTGAAATTTTCGGGT	0.333																																						uc002ufk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|pancreas(1)	4						c.(703-705)AAA>ACA		autoantigen La							36.0	37.0	37.0					2																	170666827		2202	4298	6500	SO:0001583	missense	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170666827A>C		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.704A>C	2.37:g.170666827A>C	ENSP00000386636:p.Lys235Thr					SSB_uc002ufl.2_Missense_Mutation_p.K235T|SSB_uc002ufm.2_Missense_Mutation_p.K235T	p.K235T	NM_003142	NP_003133	P05455	LA_HUMAN			9	811	+			235					Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	37	c.704A>C	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.746852	0.69418	.	.	ENSG00000138385	ENST00000260956;ENST00000409005;ENST00000409333	T;T	0.47528	0.84;0.84	5.0	5.0	0.66597	Nucleotide-binding, alpha-beta plait (1);RNA-binding motif (1);	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	M	0.80982	2.52	0.80722	D	1	P;P	0.47677	0.899;0.899	D;D	0.63597	0.916;0.916	T	0.71833	-0.4473	10	0.51188	T	0.08	-13.8434	15.0068	0.71519	1.0:0.0:0.0:0.0	.	235;235	E9PFH8;P05455	.;LA_HUMAN	T	235	ENSP00000260956:K235T;ENSP00000386636:K235T	ENSP00000260956:K235T	K	+	2	0	SSB	170375073	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.949000	0.93012	2.016000	0.59253	0.377000	0.23210	AAA		0.333	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1		NM_003142		10	46	0	0	0	0.006214	0	10	46		
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NaN		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		20	Substitution - Missense(20)		lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)	1						c.(235-237)GAG>AAG		nuclear factor erythroid 2-like 2 isoform 1							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>A	2.37:g.178098810C>T	ENSP00000380252:p.Glu79Lys	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E63K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63K|NFE2L2_uc002uli.3_Missense_Mutation_p.E63K|NFE2L2_uc010fra.2_Missense_Mutation_p.E63K|NFE2L2_uc010frb.2_Missense_Mutation_p.E63K	p.E79K	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	790	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936470	0.73442	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.996;0.985;0.997;0.996	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	63;79;63;63;63;63;63	ENSP00000380253:E63K;ENSP00000380252:E79K;ENSP00000411575:E63K;ENSP00000391590:E63K;ENSP00000400073:E63K;ENSP00000412191:E63K;ENSP00000410015:E63K	ENSP00000380252:E79K	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		23	44	0	0	0	0.016522	0	23	44		
CCDC108	255101	broad.mit.edu	37	2	219884302	219884302	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:219884302C>T	ENST00000341552.5	-	20	3482	c.3399G>A	c.(3397-3399)ctG>ctA	p.L1133L	CCDC108_ENST00000441968.1_Silent_p.L1133L|CCDC108_ENST00000453220.1_Silent_p.L1133L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1133						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.L1133L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAAGCAGGTCCAGAGAGAAGA	0.622																																						uc002vjl.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(3397-3399)CTG>CTA		coiled-coil domain containing 108 isoform 1							39.0	42.0	41.0					2																	219884302		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219884302C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3399G>A	2.37:g.219884302C>T						CCDC108_uc002vjm.3_Silent_p.L18L	p.L1133L	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3483	-		Renal(207;0.0915)	1133					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.3399G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	8.230	0.804348	0.16467	.	.	ENSG00000181378	ENST00000413871	.	.	.	5.04	1.96	0.26148	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.221	8.4859	0.33071	0.1291:0.7171:0.0:0.1538	.	.	.	.	X	42	.	.	W	-	2	0	CCDC108	219592546	1.000000	0.71417	0.998000	0.56505	0.792000	0.44763	2.392000	0.44433	0.676000	0.31285	0.561000	0.74099	TGG		0.622	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4		NM_194302		8	42	0	0	0	0.004482	0	8	42		
SPEG	10290	broad.mit.edu	37	2	220337742	220337742	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:220337742C>T	ENST00000312358.7	+	16	4203	c.4071C>T	c.(4069-4071)ttC>ttT	p.F1357F	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1357	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F1357F(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCACATCTTCCGGGTCCTCA	0.672																																						uc010fwg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(4069-4071)TTC>TTT		SPEG complex locus							46.0	54.0	52.0					2																	220337742		2103	4227	6330	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220337742C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4071C>T	2.37:g.220337742C>T							p.F1357F	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	16	4071	+		Renal(207;0.0183)	1357			Fibronectin type-III 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.4071C>T	CCDS42824.1																																																																																				0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		NM_005876		19	46	0	0	0	0.012319	0	19	46		
PTPRA	5786	broad.mit.edu	37	20	3007825	3007825	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr20:3007825G>A	ENST00000216877.6	+	18	2140	c.1740G>A	c.(1738-1740)gtG>gtA	p.V580V	PTPRA_ENST00000380393.3_Silent_p.V589V|PTPRA_ENST00000356147.3_Silent_p.V580V|PTPRA_ENST00000425918.2_Silent_p.V600V|PTPRA_ENST00000399903.2_Silent_p.V589V|PTPRA_ENST00000358719.4_Silent_p.V445V|PTPRA_ENST00000318266.5_Silent_p.V580V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	589	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V589V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGACTATGTGAACGCATCCT	0.493																																						uc010zqd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(1798-1800)GTG>GTA		protein tyrosine phosphatase, receptor type, A							235.0	204.0	215.0					20																	3007825		2203	4300	6503	SO:0001819	synonymous_variant	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3007825G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1740G>A	20.37:g.3007825G>A						PTPRA_uc002whj.2_Silent_p.V589V|PTPRA_uc002whk.2_Silent_p.V580V|PTPRA_uc002whl.2_Silent_p.V580V|PTPRA_uc002whm.2_Silent_p.V356V|PTPRA_uc002whn.2_Silent_p.V580V|PTPRA_uc002who.2_Silent_p.V252V	p.V600V	NM_002836	NP_002827	P18433	PTPRA_HUMAN			18	2117	+			589			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	ENST00000216877.6	37	c.1800G>A	CCDS13039.1																																																																																				0.493	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3				19	136	0	0	0	0.006122	0	19	136		
NINL	22981	broad.mit.edu	37	20	25481640	25481640	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr20:25481640C>G	ENST00000278886.6	-	8	941	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	NINL_ENST00000422516.1_Missense_Mutation_p.E290Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	290					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.E290Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCGCTCTCCTCTGGGACCTGC	0.607																																						uc002wux.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(868-870)GAG>CAG		ninein-like							139.0	90.0	106.0					20																	25481640		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25481640C>G		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.868G>C	20.37:g.25481640C>G	ENSP00000278886:p.Glu290Gln					NINL_uc010gdn.1_Missense_Mutation_p.E290Q|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Missense_Mutation_p.E306Q	p.E290Q	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			8	942	-			290					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.868G>C	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	7.353	0.623355	0.14193	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.33216	1.64;1.42	5.0	3.07	0.35406	.	0.599918	0.16250	N	0.222775	T	0.42720	0.1215	M	0.62723	1.935	0.24790	N	0.992765	B;D	0.76494	0.091;0.999	B;P	0.61874	0.032;0.895	T	0.19063	-1.0317	10	0.24483	T	0.36	-16.029	6.8072	0.23784	0.0:0.7197:0.0:0.2803	.	290;290	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	Q	290	ENSP00000278886:E290Q;ENSP00000410431:E290Q	ENSP00000278886:E290Q	E	-	1	0	NINL	25429640	0.950000	0.32346	0.186000	0.23195	0.112000	0.19704	2.017000	0.40981	0.711000	0.32018	0.563000	0.77884	GAG		0.607	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3		NM_025176		6	17	0	0	0	0.00308	0	6	17		
TPTE	7179	broad.mit.edu	37	21	10944672	10944672	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr21:10944672G>A	ENST00000361285.4	-	11	891	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.P150S|TPTE_ENST00000298232.7_Missense_Mutation_p.P170S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	188					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P188S(1)|p.P170S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATACCTGGGAATATTCCTA	0.284																																						uc002yip.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(562-564)CCC>TCC		transmembrane phosphatase with tensin homology							146.0	162.0	156.0					21																	10944672		2203	4298	6501	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944672G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.562C>T	21.37:g.10944672G>A	ENSP00000355208:p.Pro188Ser					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.P170S|TPTE_uc002yir.1_Missense_Mutation_p.P150S|TPTE_uc010gkv.1_Missense_Mutation_p.P50S	p.P188S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	11	930	-			188					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.562C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.57	1.977799	0.34942	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.97505	-4.41;-4.41;-4.41	2.31	2.31	0.28768	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.96005	0.8699	L	0.35644	1.08	0.52501	D	0.999959	D;D;D	0.63880	0.969;0.984;0.993	P;P;P	0.61940	0.662;0.785;0.896	D	0.94222	0.7468	10	0.45353	T	0.12	.	8.2508	0.31717	0.0:0.0:1.0:0.0	.	150;170;188	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	S	170;188;150	ENSP00000298232:P170S;ENSP00000355208:P188S;ENSP00000344441:P150S	ENSP00000298232:P170S	P	-	1	0	TPTE	9966543	0.993000	0.37304	0.782000	0.31804	0.275000	0.26752	2.171000	0.42453	1.594000	0.50039	0.194000	0.17425	CCC		0.284	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1				9	173	0	0	0	0.006214	0	9	173		
ATP5O	539	broad.mit.edu	37	21	35276300	35276300	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr21:35276300T>A	ENST00000290299.2	-	6	683	c.467A>T	c.(466-468)gAa>gTa	p.E156V	AP000304.12_ENST00000429238.1_Intron	NM_001697.2	NP_001688.1	P48047	ATPO_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit	156					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.E156V(1)		large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						AGTTTTTAATTCAGAGAGTGT	0.383																																						uc002ytl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(466-468)GAA>GTA		mitochondrial ATP synthase, O subunit precursor							97.0	94.0	95.0					21																	35276300		2203	4300	6503	SO:0001583	missense	539				ATP catabolic process|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex|plasma membrane|proton-transporting ATP synthase complex, catalytic core F(1)	drug binding|hydrogen ion transporting ATP synthase activity, rotational mechanism	g.chr21:35276300T>A	AF088071	CCDS13634.1	21q22	2012-10-12	2008-07-31		ENSG00000241837	ENSG00000241837	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	850	protein-coding gene	gene with protein product	"""oligomycin sensitivity conferring protein"""	600828				7490082	Standard	NM_001697		Approved	OSCP, ATPO		P48047	OTTHUMG00000065186	ENST00000290299.2:c.467A>T	21.37:g.35276300T>A	ENSP00000290299:p.Glu156Val					DONSON_uc002ysn.1_Intron	p.E156V	NM_001697	NP_001688	P48047	ATPO_HUMAN			6	558	-			156					B2R4E2|Q5U042|Q6IBI2	Missense_Mutation	SNP	ENST00000290299.2	37	c.467A>T	CCDS13634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.7|24.7	4.561237|4.561237	0.86335|0.86335	.|.	.|.	ENSG00000241837|ENSG00000241837	ENST00000290299|ENST00000418933	T|.	0.46063|.	0.88|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.045801|.	0.85682|.	D|.	0.000000|.	D|.	0.85936|.	0.5813|.	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.70227|.	0.968|.	D|.	0.89700|.	0.3904|.	10|.	0.72032|.	D|.	0.01|.	2.3592|2.3592	15.5825|15.5825	0.76455|0.76455	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	156|.	P48047|.	ATPO_HUMAN|.	V|C	156|51	ENSP00000290299:E156V|.	ENSP00000290299:E156V|.	E|X	-|-	2|3	0|0	ATP5O|ATP5O	34198170|34198170	1.000000|1.000000	0.71417|0.71417	0.397000|0.397000	0.26308|0.26308	0.957000|0.957000	0.61999|0.61999	6.730000|6.730000	0.74780|0.74780	2.156000|2.156000	0.67533|0.67533	0.459000|0.459000	0.35465|0.35465	GAA|TGA		0.383	ATP5O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139907.1		NM_001697		11	57	0	0	0	0.010729	0	11	57		
RAB36	9609	broad.mit.edu	37	22	23501351	23501351	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr22:23501351C>T	ENST00000263116.2	+	9	768	c.728C>T	c.(727-729)tCa>tTa	p.S243L	RAB36_ENST00000341989.4_Splice_Site_p.S221L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	243					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.S243L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TTCTCCCAGTCAGGGGCCGCA	0.662																																						uc002zwv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(727-729)TCA>TTA		RAB36, member RAS oncogene family							27.0	23.0	25.0					22																	23501351		2203	4300	6503	SO:0001630	splice_region_variant	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23501351C>T	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.727-1C>T	22.37:g.23501351C>T						RAB36_uc010gtw.1_Missense_Mutation_p.S221L	p.S243L	NM_004914	NP_004905	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	9	768	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		243					Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	c.728C>T	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113915	0.56398	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.80738	-1.41;-1.41	5.3	5.3	0.74995	Small GTP-binding protein domain (1);	0.074686	0.56097	D	0.000031	T	0.80773	0.4687	L	0.58510	1.815	0.80722	D	1	P;P	0.38827	0.649;0.494	B;B	0.41088	0.316;0.347	T	0.82837	-0.0260	10	0.66056	D	0.02	-9.6176	16.8134	0.85727	0.0:1.0:0.0:0.0	.	221;243	O95755-2;O95755	.;RAB36_HUMAN	L	243;221	ENSP00000263116:S243L;ENSP00000343494:S221L	ENSP00000263116:S243L	S	+	2	0	RAB36	21831351	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	5.216000	0.65246	2.653000	0.90120	0.511000	0.50034	TCA		0.662	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1		NM_004914	Missense_Mutation	3	10	0	0	0	0.009096	0	3	10		
PMM1	5372	broad.mit.edu	37	22	41980593	41980593	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr22:41980593C>G	ENST00000216259.7	-	3	304	c.220G>C	c.(220-222)Gat>Cat	p.D74H	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	74					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)	p.D74H(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						AACACATAATCAAACTTCTCA	0.547																																						uc003bal.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(220-222)GAT>CAT		phosphomannomutase 1							87.0	82.0	84.0					22																	41980593		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41980593C>G		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.220G>C	22.37:g.41980593C>G	ENSP00000216259:p.Asp74His						p.D74H	NM_002676	NP_002667	Q92871	PMM1_HUMAN			3	282	-			74					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.220G>C	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576687	0.86645	.	.	ENSG00000100417	ENST00000216259	D	0.99264	-5.65	4.76	4.76	0.60689	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	M	0.82823	2.61	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	D	0.98858	1.0761	10	0.62326	D	0.03	-27.695	17.7702	0.88489	0.0:1.0:0.0:0.0	.	74	Q92871	PMM1_HUMAN	H	74	ENSP00000216259:D74H	ENSP00000216259:D74H	D	-	1	0	PMM1	40310539	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.638000	0.83328	2.191000	0.70037	0.557000	0.71058	GAT		0.547	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3		NM_002676		20	107	0	0	0	0.008871	0	20	107		
CCR5	1234	broad.mit.edu	37	3	46414642	46414642	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:46414642C>T	ENST00000292303.4	+	2	395	c.249C>T	c.(247-249)gtC>gtT	p.V83V	CCR5_ENST00000445772.1_Silent_p.V83V|CCR5_ENST00000343801.4_Silent_p.V83V|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	83					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.V83V(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TTCTTACTGTCCCCTTCTGGG	0.473																																						uc003cpo.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(247-249)GTC>GTT		chemokine (C-C motif) receptor 5	Maraviroc(DB04835)						198.0	182.0	187.0					3																	46414642		2203	4296	6499	SO:0001819	synonymous_variant	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414642C>T		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.249C>T	3.37:g.46414642C>T						CCR5_uc010hjd.2_Silent_p.V83V	p.V83V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	371	+			83			Helical; Name=2; (Potential).		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Silent	SNP	ENST00000292303.4	37	c.249C>T	CCDS2739.1																																																																																				0.473	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2		NM_000579		35	162	0	0	0	0.012213	0	35	162		
HYAL3	8372	broad.mit.edu	37	3	50331065	50331065	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:50331065C>G	ENST00000336307.1	-	3	1254	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	IFRD2_ENST00000336089.4_5'Flank|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000513170.1_Intron|IFRD2_ENST00000417626.2_5'Flank|HYAL3_ENST00000415204.1_Missense_Mutation_p.E79Q|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000436390.1_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	328					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)	p.E328Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATGATCACCTCAGAGCTGGAG	0.587																																						uc003czd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(982-984)GAG>CAG		hyaluronoglucosaminidase 3 precursor							85.0	86.0	86.0					3																	50331065		2203	4300	6503	SO:0001583	missense	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50331065C>G	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.982G>C	3.37:g.50331065C>G	ENSP00000337425:p.Glu328Gln					HYAL3_uc003czc.1_Intron|HYAL3_uc003cze.1_Missense_Mutation_p.E79Q|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank	p.E328Q	NM_003549	NP_003540	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1255	-			328					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	ENST00000336307.1	37	c.982G>C	CCDS2815.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406351	0.42715	.	.	ENSG00000186792	ENST00000336307;ENST00000415204	T;T	0.31510	1.49;1.49	5.26	1.42	0.22433	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.083464	0.48767	U	0.000169	T	0.19485	0.0468	L	0.41632	1.29	0.80722	D	1	P;P	0.35551	0.454;0.509	B;B	0.35607	0.09;0.206	T	0.06625	-1.0816	10	0.17832	T	0.49	-9.4636	5.6185	0.17444	0.0:0.6102:0.1441:0.2457	.	79;328	O43820-3;O43820	.;HYAL3_HUMAN	Q	328;79	ENSP00000337425:E328Q;ENSP00000401092:E79Q	ENSP00000337425:E328Q	E	-	1	0	HYAL3	50306069	0.941000	0.31946	0.995000	0.50966	0.995000	0.86356	0.397000	0.20883	0.074000	0.16767	0.655000	0.94253	GAG		0.587	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1		NM_003549		12	103	0	0	0	0.013537	0	12	103		
IGSF11	152404	broad.mit.edu	37	3	118624510	118624510	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:118624510C>G	ENST00000393775.2	-	5	941	c.636G>C	c.(634-636)ttG>ttC	p.L212F	IGSF11_ENST00000425327.2_Missense_Mutation_p.L211F|IGSF11_ENST00000441144.2_Intron|IGSF11_ENST00000489689.1_Intron|IGSF11_ENST00000491903.1_Missense_Mutation_p.L212F|IGSF11_ENST00000354673.2_Missense_Mutation_p.L211F	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	212	Ig-like C2-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L212F(1)|p.L211F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGCACTGGTACAAACCTGAAG	0.468																																						uc003ebw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(634-636)TTG>TTC		immunoglobulin superfamily, member 11 isoform b							121.0	118.0	119.0					3																	118624510		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118624510C>G	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.636G>C	3.37:g.118624510C>G	ENSP00000377370:p.Leu212Phe					IGSF11_uc011biv.1_Missense_Mutation_p.L212F|IGSF11_uc003ebx.2_Intron|IGSF11_uc003eby.2_Missense_Mutation_p.L211F|IGSF11_uc003ebz.2_Intron|IGSF11_uc010hqs.2_Missense_Mutation_p.L211F	p.L212F	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			5	883	-			212			Ig-like C2-type.|Extracellular (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.636G>C	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708568	0.48517	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000354673;ENST00000491903	T;T;T;T	0.03272	3.99;3.99;3.99;3.99	5.22	0.348	0.16026	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.064401	0.64402	D	0.000012	T	0.03434	0.0099	L	0.39326	1.205	0.51233	D	0.999916	P;P;B	0.47604	0.898;0.763;0.437	P;B;B	0.49192	0.602;0.43;0.277	T	0.57329	-0.7830	10	0.12430	T	0.62	.	0.5041	0.00584	0.2715:0.3026:0.1198:0.3061	.	212;211;212	C9JBA5;Q5DX21-2;Q5DX21	.;.;IGS11_HUMAN	F	211;212;211;212	ENSP00000406092:L211F;ENSP00000377370:L212F;ENSP00000346700:L211F;ENSP00000417413:L212F	ENSP00000346700:L211F	L	-	3	2	IGSF11	120107200	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	0.884000	0.28214	0.143000	0.18926	-0.150000	0.13652	TTG		0.468	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2				4	60	0	0	0	0.009096	0	4	60		
SRPRB	58477	broad.mit.edu	37	3	133524732	133524732	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:133524732G>A	ENST00000466490.2	+	2	325	c.40G>A	c.(40-42)Ggt>Agt	p.G14S		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	14					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.G14S(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AGATGGCGGCGGTGCCGGGGG	0.672																																						uc003epx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(40-42)GGT>AGT		signal recognition particle receptor, beta							44.0	46.0	45.0					3																	133524732		2202	4299	6501	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133524732G>A	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.40G>A	3.37:g.133524732G>A	ENSP00000418401:p.Gly14Ser						p.G14S	NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN			1	56	+			14					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.40G>A	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	G	7.567	0.665835	0.14710	.	.	ENSG00000144867	ENST00000466490;ENST00000484684	T;T	0.42513	2.6;0.97	3.82	2.02	0.26589	.	0.944627	0.08711	U	0.904980	T	0.26085	0.0636	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28396	-1.0045	10	0.13108	T	0.6	-0.0487	6.0986	0.20035	0.3205:0.0:0.6795:0.0	.	14	Q9Y5M8	SRPRB_HUMAN	S	14	ENSP00000418401:G14S;ENSP00000417096:G14S	ENSP00000418401:G14S	G	+	1	0	SRPRB	135007422	0.001000	0.12720	0.001000	0.08648	0.244000	0.25665	0.108000	0.15396	0.587000	0.29643	-0.157000	0.13467	GGT		0.672	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2				14	49	0	0	0	0.004007	0	14	49		
WDR49	151790	broad.mit.edu	37	3	167249008	167249008	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:167249008C>G	ENST00000308378.3	-	9	1362	c.1057G>C	c.(1057-1059)Gac>Cac	p.D353H	WDR49_ENST00000453925.2_Missense_Mutation_p.D417H|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D178H	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	353								p.D353H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTAGAATGGTCTGCCATGGGG	0.433																																						uc003fev.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1057-1059)GAC>CAC		WD repeat domain 49							83.0	88.0	87.0					3																	167249008		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167249008C>G	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1057G>C	3.37:g.167249008C>G	ENSP00000311343:p.Asp353His					WDR49_uc003feu.1_Missense_Mutation_p.D178H|WDR49_uc011bpd.1_Missense_Mutation_p.D417H|WDR49_uc003few.1_Intron	p.D353H	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			9	1363	-			353					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1057G>C	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.09|13.09	2.133322|2.133322	0.37630|0.37630	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.55052|.	0.54;1.82;0.97|.	5.68|5.68	2.87|2.87	0.33458|0.33458	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.811986|.	0.11253|.	N|.	0.583404|.	T|T	0.39860|0.39860	0.1094|0.1094	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	P;P|.	0.42337|.	0.776;0.761|.	B;B|.	0.38500|.	0.258;0.275|.	T|T	0.29941|0.29941	-0.9995|-0.9995	10|5	0.49607|.	T|.	0.09|.	.|.	4.4659|4.4659	0.11689|0.11689	0.0:0.5834:0.1675:0.2491|0.0:0.5834:0.1675:0.2491	.|.	417;353|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	H|H	353;178;417|428	ENSP00000311343:D353H;ENSP00000420508:D178H;ENSP00000410863:D417H|.	ENSP00000311343:D353H|.	D|Q	-|-	1|3	0|2	WDR49|WDR49	168731702|168731702	0.013000|0.013000	0.17824|0.17824	0.007000|0.007000	0.13788|0.13788	0.007000|0.007000	0.05969|0.05969	1.157000|1.157000	0.31724|0.31724	0.735000|0.735000	0.32537|0.32537	0.650000|0.650000	0.86243|0.86243	GAC|CAG		0.433	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3		NM_178824		4	26	0	0	0	0.014758	0	4	26		
GHSR	2693	broad.mit.edu	37	3	172166168	172166168	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:172166168G>C	ENST00000241256.2	-	1	78	c.36C>G	c.(34-36)ttC>ttG	p.F12L	GHSR_ENST00000427970.1_Missense_Mutation_p.F12L	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	12					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.F12L(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTGTGAGGTTGAACCCCGGCT	0.697																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|ovary(1)|central_nervous_system(1)	5						c.(34-36)TTC>TTG		growth hormone secretagogue receptor isoform 1a							23.0	23.0	23.0					3																	172166168		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172166168G>C	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.36C>G	3.37:g.172166168G>C	ENSP00000241256:p.Phe12Leu					GHSR_uc011bpv.1_Missense_Mutation_p.F12L	p.F12L	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	36	-	Ovarian(172;0.00143)|Breast(254;0.197)		12			Extracellular (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.36C>G	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.262360	0.01445	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.65178	-0.14;0.2	4.37	3.48	0.39840	.	1.551430	0.03707	N	0.249544	T	0.39436	0.1078	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36261	-0.9755	10	0.10902	T	0.67	-5.1897	4.3579	0.11187	0.1942:0.0:0.6246:0.1813	.	12;12	Q92847-2;Q92847	.;GHSR_HUMAN	L	12	ENSP00000241256:F12L;ENSP00000395344:F12L	ENSP00000241256:F12L	F	-	3	2	GHSR	173648862	0.323000	0.24643	0.784000	0.31847	0.021000	0.10359	1.797000	0.38804	1.009000	0.39289	0.462000	0.41574	TTC		0.697	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1		NM_004122		11	23	0	0	0	0.010729	0	11	23		
CEP135	9662	broad.mit.edu	37	4	56885642	56885642	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:56885642C>T	ENST00000257287.4	+	23	3260	c.3136C>T	c.(3136-3138)Cat>Tat	p.H1046Y		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1046					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.H1046Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TAAAGAATTTCATTCTCACTT	0.358																																						uc003hbi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3136-3138)CAT>TAT		centrosome protein 4							82.0	78.0	80.0					4																	56885642		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56885642C>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3136C>T	4.37:g.56885642C>T	ENSP00000257287:p.His1046Tyr					CEP135_uc003hbj.2_Missense_Mutation_p.H752Y	p.H1046Y	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			23	3370	+	Glioma(25;0.08)|all_neural(26;0.101)		1046					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.3136C>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504812	0.64410	.	.	ENSG00000174799	ENST00000257287	T	0.13778	2.56	4.96	4.96	0.65561	.	0.310884	0.34828	N	0.003651	T	0.17577	0.0422	L	0.44542	1.39	0.31168	N	0.703582	B	0.24651	0.108	B	0.30179	0.112	T	0.07712	-1.0758	10	0.72032	D	0.01	.	18.6365	0.91380	0.0:1.0:0.0:0.0	.	1046	Q66GS9	CP135_HUMAN	Y	1046	ENSP00000257287:H1046Y	ENSP00000257287:H1046Y	H	+	1	0	CEP135	56580399	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.144000	0.64832	2.479000	0.83701	0.650000	0.86243	CAT		0.358	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2		NM_025009		5	23	0	0	0	0.014758	0	5	23		
CYP2U1	113612	broad.mit.edu	37	4	108866647	108866647	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:108866647G>A	ENST00000332884.6	+	2	1287	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.D129N	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	338					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.D338N(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CAGCAGTTTTGATGAAGAGTA	0.413																																						uc003hyp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1012-1014)GAT>AAT		cytochrome P450, family 2, subfamily U,							96.0	97.0	97.0					4																	108866647		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866647G>A	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1012G>A	4.37:g.108866647G>A	ENSP00000333212:p.Asp338Asn					CYP2U1_uc011cfi.1_Missense_Mutation_p.D129N	p.D338N	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	1095	+		Hepatocellular(203;0.217)	338					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.1012G>A	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	G	3.157	-0.173038	0.06421	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.79653	-1.29;-1.29	5.96	-3.71	0.04424	.	0.417482	0.28815	N	0.014051	T	0.46580	0.1400	N	0.02854	-0.475	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.51585	-0.8687	10	0.02654	T	1	.	8.2385	0.31640	0.4629:0.1132:0.4239:0.0	.	338	Q7Z449	CP2U1_HUMAN	N	338;295;129	ENSP00000333212:D338N;ENSP00000423667:D129N	ENSP00000333212:D338N	D	+	1	0	CYP2U1	109086096	0.969000	0.33509	0.000000	0.03702	0.020000	0.10135	1.486000	0.35530	-0.581000	0.05937	-1.224000	0.01588	GAT		0.413	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2		NM_183075		18	73	0	0	0	0.006122	0	18	73		
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		139	Substitution - Missense(138)|Unknown(1)	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1513-1515)CGC>GGC		F-box and WD repeat domain containing 7 isoform							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	p.R505G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1662	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).	WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				6	41	0	0	0	0.001984	0	6	41		
FAT1	2195	broad.mit.edu	37	4	187540912	187540912	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:187540912G>C	ENST00000441802.2	-	10	7037	c.6828C>G	c.(6826-6828)atC>atG	p.I2276M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2276	Cadherin 20. {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)	p.I2276M(1)|p.I2279M(1)		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						GGTTATCATTGATGTCGTCTA	0.493										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6826-6828)ATC>ATG		FAT tumor suppressor 1 precursor							119.0	122.0	121.0					4																	187540912		2016	4188	6204	SO:0001583	missense	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.chr4:187540912G>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.6828C>G	4.37:g.187540912G>C	ENSP00000406229:p.Ile2276Met	HNSCC(5;0.00058)					p.I2276M	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7016	-			2276			Extracellular (Potential).|Cadherin 20.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6828C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	7.737	0.700495	0.15106	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.66815	-0.23	5.23	5.23	0.72850	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.179778	0.50627	D	0.000120	T	0.69160	0.3080	L	0.52573	1.65	0.44880	D	0.997894	P	0.45902	0.868	P	0.50896	0.653	T	0.71140	-0.4679	10	0.62326	D	0.03	.	12.3317	0.55043	0.0768:0.0:0.9232:0.0	.	2276	Q14517	FAT1_HUMAN	M	2276;2278	ENSP00000406229:I2276M	ENSP00000260147:I2278M	I	-	3	3	FAT1	187777906	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	2.049000	0.41288	2.721000	0.93114	0.655000	0.94253	ATC		0.493	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		20	114	0	0	0	0.008871	0	20	114		
CTNND2	1501	broad.mit.edu	37	5	11732250	11732250	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:11732250G>T	ENST00000304623.8	-	2	361	c.172C>A	c.(172-174)Cag>Aag	p.Q58K	CTNND2_ENST00000359640.2_Missense_Mutation_p.Q58K|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	58					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q58K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTTTCTACCTGTTCTTTGACT	0.418																																						uc003jfa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(172-174)CAG>AAG		catenin (cadherin-associated protein), delta 2							132.0	128.0	130.0					5																	11732250		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11732250G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.172C>A	5.37:g.11732250G>T	ENSP00000307134:p.Gln58Lys					CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.Q58K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			2	317	-			58			Potential.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.172C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270195	0.95429	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000502551;ENST00000508761	D;D	0.93426	-2.93;-3.22	5.91	5.91	0.95273	.	0.000000	0.44097	D	0.000487	D	0.96182	0.8755	M	0.77103	2.36	0.80722	D	1	P	0.45715	0.865	P	0.57620	0.824	D	0.96189	0.9136	10	0.87932	D	0	-14.6224	17.7899	0.88548	0.0:0.0:1.0:0.0	.	58	Q9UQB3	CTND2_HUMAN	K	58;58;44;44	ENSP00000307134:Q58K;ENSP00000352661:Q58K	ENSP00000307134:Q58K	Q	-	1	0	CTNND2	11785250	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.130000	0.94437	2.796000	0.96246	0.643000	0.83706	CAG		0.418	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332		9	47	1	0	3.86212e-05	0.008291	4.08601e-05	9	47		
GPR98	84059	broad.mit.edu	37	5	89969991	89969991	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:89969991A>C	ENST00000405460.2	+	23	5146	c.5050A>C	c.(5050-5052)Agc>Cgc	p.S1684R	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1684					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S1684R(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGTGGTGCAAGCATAGATCC	0.423																																						uc003kju.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(5050-5052)AGC>CGC		G protein-coupled receptor 98 precursor							94.0	89.0	91.0					5																	89969991		1936	4139	6075	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89969991A>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5050A>C	5.37:g.89969991A>C	ENSP00000384582:p.Ser1684Arg					GPR98_uc003kjt.2_5'UTR|GPR98_uc010jba.1_RNA	p.S1684R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	23	5146	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1684			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.5050A>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848013	0.91277	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27557	1.66	5.07	5.07	0.68467	.	0.071490	0.85682	D	0.000000	T	0.53045	0.1772	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55761	-0.8090	10	0.62326	D	0.03	.	15.1839	0.72982	1.0:0.0:0.0:0.0	.	1684	Q8WXG9	GPR98_HUMAN	R	1684	ENSP00000384582:S1684R	ENSP00000296619:S1684R	S	+	1	0	GPR98	90005747	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.936000	0.92931	2.046000	0.60703	0.454000	0.30748	AGC		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		6	27	0	0	0	0.001168	0	6	27		
SLCO4C1	353189	broad.mit.edu	37	5	101592818	101592818	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:101592818C>T	ENST00000310954.6	-	8	1756		c.e8+1			NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTGTATTTACCCATTATATG	0.323																																						uc003knm.2		NaN																	1	Unknown(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.e8+1		solute carrier organic anion transporter family,							64.0	62.0	63.0					5																	101592818		2203	4300	6503	SO:0001630	splice_region_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101592818C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1469+1G>A	5.37:g.101592818C>T							p.G490_splice	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	8	1756	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)							Splice_Site	SNP	ENST00000310954.6	37	c.1469_splice	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089562	0.36855	.	.	ENSG00000173930	ENST00000310954	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3914	0.94584	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLCO4C1	101620717	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	5.521000	0.67086	2.574000	0.86865	0.580000	0.79431	.		0.323	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1		NM_180991	Intron	10	43	0	0	0	0.008291	0	10	43		
PCDHAC1	56135	broad.mit.edu	37	5	140306514	140306514	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:140306514G>A	ENST00000253807.2	+	1	37	c.37G>A	c.(37-39)Gtt>Att	p.V13I	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.V13I|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	13					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)	p.V13I(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTTTGTGGGTTTCCTGCGG	0.632																																						uc003lih.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)	5						c.(37-39)GTT>ATT		protocadherin alpha subfamily C, 1 isoform 1							125.0	149.0	141.0					5																	140306514		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140306514G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.37G>A	5.37:g.140306514G>A	ENSP00000253807:p.Val13Ile					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.V13I	p.V13I	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	213	+			13					Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.37G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	9.858	1.195480	0.22037	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.52057	0.7;0.68	5.29	3.21	0.36854	.	.	.	.	.	T	0.27629	0.0679	N	0.16098	0.37	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.15052	0.01;0.012	T	0.14090	-1.0485	9	0.29301	T	0.29	.	6.3594	0.21420	0.1247:0.4925:0.3828:0.0	.	13;13	Q9H158;Q9H158-2	PCDC1_HUMAN;.	I	13	ENSP00000386356:V13I;ENSP00000253807:V13I	ENSP00000253807:V13I	V	+	1	0	PCDHAC1	140286698	0.000000	0.05858	0.997000	0.53966	0.073000	0.16967	-3.131000	0.00590	1.202000	0.43218	0.561000	0.74099	GTT		0.632	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1		NM_018898		5	50	0	0	0	0.014758	0	5	50		
PCDHB6	56130	broad.mit.edu	37	5	140531711	140531711	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:140531711G>T	ENST00000231136.1	+	1	1873	c.1873G>T	c.(1873-1875)Gcc>Tcc	p.A625S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A489S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A625S(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCACCGCCAGGCTGCT	0.687																																						uc003lir.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1873-1875)GCC>TCC		protocadherin beta 6 precursor							29.0	31.0	30.0					5																	140531711		2049	4087	6136	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531711G>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1873G>T	5.37:g.140531711G>T	ENSP00000231136:p.Ala625Ser					PCDHB6_uc011dah.1_Missense_Mutation_p.A489S	p.A625S	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1873	+			625			Cadherin 6.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1873G>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	3.292	-0.144669	0.06627	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.53423	0.62;0.62	4.51	0.481	0.16809	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40067	0.1102	L	0.56280	1.765	0.09310	N	1	B	0.21905	0.062	B	0.28638	0.092	T	0.40646	-0.9552	9	0.49607	T	0.09	.	4.4633	0.11676	0.3736:0.0:0.4759:0.1505	.	625	Q9Y5E3	PCDB6_HUMAN	S	489;625	ENSP00000438466:A489S;ENSP00000231136:A625S	ENSP00000231136:A625S	A	+	1	0	PCDHB6	140511895	0.000000	0.05858	0.247000	0.24249	0.201000	0.24016	-1.252000	0.02880	0.091000	0.17302	-0.255000	0.11280	GCC		0.687	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2		NM_018939		11	45	1	0	0.000308642	0.003163	0.000324185	11	45		
GABRA1	2554	broad.mit.edu	37	5	161300148	161300148	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:161300148G>A	ENST00000428797.2	+	6	636	c.281G>A	c.(280-282)cGt>cAt	p.R94H	GABRA1_ENST00000393943.4_Missense_Mutation_p.R94H|GABRA1_ENST00000444819.1_Missense_Mutation_p.R94H|GABRA1_ENST00000437025.2_Missense_Mutation_p.R94H|GABRA1_ENST00000420560.1_Missense_Mutation_p.R94H|GABRA1_ENST00000023897.6_Missense_Mutation_p.R94H	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	94					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R94H(2)|p.R94L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTATTTTTCCGTCAAAGCTGG	0.373																																						uc010jiw.2		NaN																	3	Substitution - Missense(3)	p.R94H(1)	urinary_tract(1)|ovary(1)|lung(1)	ovary(2)|pancreas(1)	3						c.(280-282)CGT>CAT		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						91.0	98.0	96.0					5																	161300148		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161300148G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.281G>A	5.37:g.161300148G>A	ENSP00000393097:p.Arg94His					GABRA1_uc010jix.2_Missense_Mutation_p.R94H|GABRA1_uc010jiy.2_Missense_Mutation_p.R94H|GABRA1_uc003lyx.3_Missense_Mutation_p.R94H|GABRA1_uc010jiz.2_Missense_Mutation_p.R94H|GABRA1_uc010jja.2_Missense_Mutation_p.R94H|GABRA1_uc010jjb.2_Missense_Mutation_p.R94H	p.R94H	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	6	749	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	94			Extracellular (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.281G>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525396	0.96431	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.107484	0.64402	D	0.000008	D	0.91133	0.7208	M	0.84585	2.705	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.91782	0.5436	10	0.87932	D	0	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	94	P14867	GBRA1_HUMAN	H	94	ENSP00000023897:R94H;ENSP00000393097:R94H;ENSP00000377517:R94H;ENSP00000415441:R94H;ENSP00000408041:R94H;ENSP00000414232:R94H;ENSP00000430435:R94H	ENSP00000023897:R94H	R	+	2	0	GABRA1	161232726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.717000	0.92951	0.585000	0.79938	CGT		0.373	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2		NM_000806.5		4	35	0	0	0	0.009096	0	4	35		
CUL9	23113	broad.mit.edu	37	6	43174208	43174208	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:43174208C>T	ENST00000252050.4	+	26	5256	c.5172C>T	c.(5170-5172)ttC>ttT	p.F1724F	CUL9_ENST00000354495.3_Silent_p.F1614F|CUL9_ENST00000372647.2_Silent_p.F1724F|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1724					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.F1724F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCACAGAATTCTGTGATGCCC	0.542																																						uc003ouk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(5170-5172)TTC>TTT		p53-associated parkin-like cytoplasmic protein							110.0	106.0	107.0					6																	43174208		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43174208C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5172C>T	6.37:g.43174208C>T						CUL9_uc003oul.2_Silent_p.F1724F|CUL9_uc010jyk.2_Silent_p.F876F	p.F1724F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			26	5247	+			1724					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.5172C>T	CCDS4890.1																																																																																				0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089		22	96	0	0	0	0.014323	0	22	96		
ZNF318	24149	broad.mit.edu	37	6	43305865	43305865	+	Silent	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:43305865A>T	ENST00000361428.2	-	10	5948	c.5871T>A	c.(5869-5871)gcT>gcA	p.A1957A	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1957					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A1957A(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CATCCCAAACAGCCAACTCAT	0.428																																						uc003oux.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(5869-5871)GCT>GCA		zinc finger protein 318							97.0	99.0	98.0					6																	43305865		2203	4299	6502	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305865A>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5871T>A	6.37:g.43305865A>T						ZNF318_uc003ouw.2_Intron	p.A1957A	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5949	-			1957					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.5871T>A	CCDS4895.2																																																																																				0.428	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2		NM_014345		11	83	0	0	0	0.008291	0	11	83		
SLC35B2	347734	broad.mit.edu	37	6	44223092	44223092	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:44223092G>A	ENST00000393812.3	-	4	793	c.650C>T	c.(649-651)gCc>gTc	p.A217V	SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.A124V|SLC35B2_ENST00000495706.1_5'UTR|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Missense_Mutation_p.A84V	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	217					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)	p.A217V(1)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCTTAGAGGCCTTGGCCAG	0.562																																						uc003oxd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(649-651)GCC>GTC		solute carrier family 35, member B2							94.0	96.0	96.0					6																	44223092		2203	4300	6503	SO:0001583	missense	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44223092G>A	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.650C>T	6.37:g.44223092G>A	ENSP00000377401:p.Ala217Val					SLC35B2_uc011dvt.1_Missense_Mutation_p.A120V|SLC35B2_uc011dvu.1_Missense_Mutation_p.A84V	p.A217V	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	786	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		217					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	c.650C>T	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392397	0.96009	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.31769	1.48;1.48;1.48	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	M	0.87269	2.87	0.80722	D	1	D;D	0.76494	0.968;0.999	P;D	0.77557	0.854;0.99	T	0.64175	-0.6469	10	0.66056	D	0.02	-34.5225	19.5186	0.95176	0.0:0.0:1.0:0.0	.	124;217	F5H7Y9;Q8TB61	.;S35B2_HUMAN	V	217;84;124;217	ENSP00000377401:A217V;ENSP00000440340:A84V;ENSP00000443845:A124V	ENSP00000342455:A217V	A	-	2	0	SLC35B2	44331070	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.852000	0.99516	2.628000	0.89032	0.555000	0.69702	GCC		0.562	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2				20	100	0	0	0	0.008871	0	20	100		
ENPP3	5169	broad.mit.edu	37	6	131979502	131979502	+	Silent	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:131979502A>G	ENST00000414305.1	+	7	832	c.504A>G	c.(502-504)ggA>ggG	p.G168G	ENPP3_ENST00000358229.5_Silent_p.G168G|ENPP3_ENST00000543135.1_Silent_p.G134G|ENPP3_ENST00000427148.2_Silent_p.G134G|ENPP3_ENST00000357639.3_Silent_p.G168G|ENPP3_ENST00000470930.1_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	168	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G168G(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTATGGATGGATTTAGAGCTG	0.338																																						uc003qcu.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(502-504)GGA>GGG		ectonucleotide pyrophosphatase/phosphodiesterase							174.0	168.0	170.0					6																	131979502		2202	4300	6502	SO:0001819	synonymous_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131979502A>G	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.504A>G	6.37:g.131979502A>G						ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Silent_p.G134G|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.G168G	p.G168G	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	7	851	+	Breast(56;0.0753)		168			Extracellular (Potential).|Phosphodiesterase.		Q5JTL3	Silent	SNP	ENST00000414305.1	37	c.504A>G	CCDS5148.1																																																																																				0.338	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2				3	23	0	0	0	0.009096	0	3	23		
SHPRH	257218	broad.mit.edu	37	6	146275906	146275906	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:146275906T>C	ENST00000367505.2	-	2	817	c.553A>G	c.(553-555)Atg>Gtg	p.M185V	SHPRH_ENST00000275233.7_Missense_Mutation_p.M185V|SHPRH_ENST00000438092.2_Missense_Mutation_p.M185V|SHPRH_ENST00000367503.3_Missense_Mutation_p.M185V			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	185				M -> V (in Ref. 3; CAH18145). {ECO:0000305}.	DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M185V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTCTAACATTTCACCACTG	0.363																																						uc003qlf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(553-555)ATG>GTG		SNF2 histone linker PHD RING helicase isoform a							118.0	112.0	114.0					6																	146275906		1839	4102	5941	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146275906T>C	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.553A>G	6.37:g.146275906T>C	ENSP00000356475:p.Met185Val					SHPRH_uc003qld.2_Missense_Mutation_p.M185V|SHPRH_uc003qle.2_Missense_Mutation_p.M185V|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.M74V|SHPRH_uc003qlk.1_Missense_Mutation_p.M185V	p.M185V	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	952	-		Ovarian(120;0.0365)	185	M -> V (in Ref. 3; CAH18145).				Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.553A>G	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	11.57	1.677971	0.29783	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.66	1.98	0.26296	.	0.276491	0.36303	N	0.002663	T	0.27384	0.0672	L	0.54323	1.7	0.29814	N	0.831436	B;B;B;B	0.13145	0.0;0.0;0.003;0.007	B;B;B;B	0.12156	0.0;0.002;0.004;0.007	T	0.25047	-1.0143	10	0.09338	T	0.73	-5.3286	8.495	0.33123	0.0:0.0698:0.4317:0.4986	.	74;185;185;74	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	V	185;185;185;185;74	ENSP00000356475:M185V;ENSP00000356473:M185V;ENSP00000412797:M185V;ENSP00000275233:M185V	ENSP00000275233:M185V	M	-	1	0	SHPRH	146317599	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	1.733000	0.38156	0.109000	0.17891	0.533000	0.62120	ATG		0.363	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2		NM_173082		19	46	0	0	0	0.007413	0	19	46		
ARID1B	57492	broad.mit.edu	37	6	157517418	157517418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:157517418C>T	ENST00000350026.5	+	15	3944	c.3943C>T	c.(3943-3945)Cag>Tag	p.Q1315*	ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q1328*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1310*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1368*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1315					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.Q1328*(1)|p.Q1310*(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCAGCGCCAGCAGTTTCCCTA	0.478																																						uc003qqn.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(1)|breast(1)	2						c.(3928-3930)CAG>TAG		AT rich interactive domain 1B (SWI1-like)							138.0	136.0	137.0					6																	157517418		2203	4296	6499	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157517418C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3943C>T	6.37:g.157517418C>T	ENSP00000055163:p.Gln1315*					ARID1B_uc003qqo.2_Nonsense_Mutation_p.Q1270*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.Q1257*	p.Q1310*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	16	4080	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1315					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.3928C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	44	10.559224	0.99427	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.8379	0.96666	0.0:1.0:0.0:0.0	.	.	.	.	X	1328;1315;1368;1310;837	.	ENSP00000275248:Q1310X	Q	+	1	0	ARID1B	157559110	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.354000	0.79424	2.765000	0.95021	0.655000	0.94253	CAG		0.478	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		NM_020732		34	167	0	0	0	0.019004	0	34	167		
RBAK	57786	broad.mit.edu	37	7	5103941	5103941	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:5103941G>C	ENST00000353796.3	+	6	1178	c.854G>C	c.(853-855)gGa>gCa	p.G285A	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.G285A	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	285					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G285A(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GCTCACACAGGAGAGAAACCT	0.418																																						uc010kss.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|kidney(1)|skin(1)	5						c.(853-855)GGA>GCA		RB-associated KRAB repressor							58.0	61.0	60.0					7																	5103941		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5103941G>C	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.854G>C	7.37:g.5103941G>C	ENSP00000275423:p.Gly285Ala					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.G285A	p.G285A	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	1178	+		Ovarian(82;0.0175)	285					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.854G>C	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854304	0.71719	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.26373	1.74;1.74	3.76	3.76	0.43208	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000101	T	0.42988	0.1227	L	0.52759	1.655	0.38403	D	0.945704	D	0.76494	0.999	D	0.87578	0.998	T	0.49428	-0.8941	8	.	.	.	.	13.8561	0.63527	0.0:0.0:1.0:0.0	.	285	Q9NYW8	RBAK_HUMAN	A	285	ENSP00000275423:G285A;ENSP00000380120:G285A	.	G	+	2	0	RBAK	5070467	0.987000	0.35691	1.000000	0.80357	0.963000	0.63663	2.229000	0.42990	2.386000	0.81285	0.555000	0.69702	GGA		0.418	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2		NM_021163		10	39	0	0	0	0.006214	0	10	39		
FERD3L	222894	broad.mit.edu	37	7	19184848	19184848	+	Silent	SNP	G	G	A	rs267601446		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:19184848G>A	ENST00000275461.3	-	1	196	c.138C>T	c.(136-138)ctC>ctT	p.L46L	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	46					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L46L(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTCCCTCTCGGAGCGCAAGGG	0.657																																						uc003suo.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(136-138)CTC>CTT		nephew of atonal 3							49.0	40.0	43.0					7																	19184848		2203	4300	6503	SO:0001819	synonymous_variant	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184848G>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.138C>T	7.37:g.19184848G>A						uc003sun.1_RNA	p.L46L	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	197	-			46					Q495K0	Silent	SNP	ENST00000275461.3	37	c.138C>T	CCDS5368.1																																																																																				0.657	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1				4	44	0	0	0	0.009096	0	4	44		
NPVF	64111	broad.mit.edu	37	7	25264765	25264765	+	Silent	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:25264765A>G	ENST00000222674.2	-	3	613	c.567T>C	c.(565-567)gaT>gaC	p.D189D		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	189					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.D189D(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TCAATTCTGCATCATCTATTT	0.393																																						uc003sxo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(565-567)GAT>GAC		neuropeptide VF precursor							209.0	196.0	201.0					7																	25264765		2203	4300	6503	SO:0001819	synonymous_variant	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25264765A>G	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.567T>C	7.37:g.25264765A>G							p.D189D	NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN			3	614	-			189					A4D164|Q7LE27|Q96PI9	Silent	SNP	ENST00000222674.2	37	c.567T>C	CCDS5395.1																																																																																				0.393	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1		NM_022150		6	48	0	0	0	0.001168	0	6	48		
PAX4	5078	broad.mit.edu	37	7	127255466	127255466	+	Missense_Mutation	SNP	G	G	A	rs35155575	byFrequency	TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:127255466G>A	ENST00000341640.2	-	1	314	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	PAX4_ENST00000338516.3_Missense_Mutation_p.R45W|PAX4_ENST00000463946.1_De_novo_Start_InFrame|PAX4_ENST00000378740.2_Missense_Mutation_p.R37W	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	45	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001206)	p.R37W(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTAAGGATCCGTGAGATGTCA	0.602													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20382	0.0		0.0	False		,,,				2504	0.0				Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1	GRCh37	CM043321	PAX4	M	rs35155575	c.(109-111)CGG>TGG		paired box 4		G	TRP/ARG	23,4383	29.9+/-59.1	0,23,2180	89.0	90.0	90.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	109	4.8	1.0	7	dbSNP_126	90	0,8600		0,0,4300	yes	missense	PAX4	NM_006193.2	101	0,23,6480	AA,AG,GG		0.0,0.522,0.1768	probably-damaging	37/344	127255466	23,12983	2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255466G>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.109C>T	7.37:g.127255466G>A	ENSP00000339906:p.Arg37Trp					PAX4_uc003vmf.2_Translation_Start_Site|PAX4_uc003vmg.1_Missense_Mutation_p.R37W|PAX4_uc003vmh.2_Translation_Start_Site	p.R37W	NM_006193	NP_006184	O43316	PAX4_HUMAN			1	315	-			45		R -> W (associated with PKD susceptbility).	Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.109C>T	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027204	0.75390	0.00522	0.0	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740	D;D	0.99527	-6.09;-6.09	5.73	4.77	0.60923	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	M	0.91972	3.26	0.50313	D	0.999867	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95302	0.8404	10	0.87932	D	0	.	15.0605	0.71947	0.0:0.0:0.8484:0.1516	rs35155575	37;45	O43316-4;O43316	.;PAX4_HUMAN	W	37;45;45	ENSP00000339906:R37W;ENSP00000344297:R45W	ENSP00000344297:R45W	R	-	1	2	PAX4	127042702	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	2.013000	0.40942	2.693000	0.91896	0.655000	0.94253	CGG		0.602	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1				13	107	0	0	0	0.003163	0	13	107		
KMT2C	58508	broad.mit.edu	37	7	151949162	151949162	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:151949162C>G	ENST00000262189.6	-	11	1701	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.E495Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	495					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E495Q(2)									TTGTCACACTCTAGGTGAACC	0.378																																						uc003wla.2		NaN								N							medulloblastoma		2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1483-1485)GAG>CAG		myeloid/lymphoid or mixed-lineage leukemia 3							95.0	84.0	88.0					7																	151949162		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151949162C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1483G>C	7.37:g.151949162C>G	ENSP00000262189:p.Glu495Gln						p.E495Q	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	11	1702	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	495			PHD-type 3.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1483G>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749840	0.69533	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87729	-2.29;-2.29	5.86	5.86	0.93980	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.47852	D	0.000219	D	0.90198	0.6936	L	0.58810	1.83	0.80722	D	1	D	0.63880	0.993	P	0.55713	0.782	D	0.86459	0.1778	10	0.19147	T	0.46	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	495	Q8NEZ4	MLL3_HUMAN	Q	495	ENSP00000262189:E495Q;ENSP00000347325:E495Q	ENSP00000262189:E495Q	E	-	1	0	MLL3	151580095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.341000	0.72977	2.778000	0.95560	0.655000	0.94253	GAG		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				4	19	0	0	0	0.014758	0	4	19		
RAB11FIP1	80223	broad.mit.edu	37	8	37730530	37730530	+	Missense_Mutation	SNP	G	G	C	rs139109346	byFrequency	TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:37730530G>C	ENST00000330843.4	-	4	1802	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	597	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.S597C(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGATGAGAGAGAGGAGAAGAC	0.547																																						uc003xkm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1789-1791)TCT>TGT		RAB11 family interacting protein 1 isoform 3							82.0	76.0	78.0					8																	37730530		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730530G>C	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1790C>G	8.37:g.37730530G>C	ENSP00000331342:p.Ser597Cys					RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	p.S597C	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	1834	-		Lung NSC(58;0.118)|all_lung(54;0.195)	597			Ser-rich.		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1790C>G	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841703	0.32513	.	.	ENSG00000156675	ENST00000330843	T	0.20463	2.07	5.37	3.56	0.40772	.	0.519070	0.17912	N	0.157814	T	0.25644	0.0624	L	0.34521	1.04	0.09310	N	0.999997	D	0.71674	0.998	P	0.60173	0.87	T	0.05194	-1.0900	10	0.56958	D	0.05	-3.5669	4.6913	0.12783	0.2317:0.0:0.6125:0.1557	.	597	Q6WKZ4	RFIP1_HUMAN	C	597	ENSP00000331342:S597C	ENSP00000331342:S597C	S	-	2	0	RAB11FIP1	37849688	0.001000	0.12720	0.003000	0.11579	0.339000	0.28857	0.324000	0.19610	1.257000	0.44085	0.655000	0.94253	TCT		0.547	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1		NM_025151		17	98	0	0	0	0.004007	0	17	98		
BAG4	9530	broad.mit.edu	37	8	38065264	38065264	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:38065264C>T	ENST00000287322.4	+	3	884	c.613C>T	c.(613-615)Cca>Tca	p.P205S	BAG4_ENST00000432471.2_Missense_Mutation_p.P169S	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	205					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.P205S(1)		breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGGGCAGGTTCCAGGATATCC	0.478																																						uc003xky.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(613-615)CCA>TCA		BCL2-associated athanogene 4							63.0	66.0	65.0					8																	38065264		2203	4300	6503	SO:0001583	missense	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38065264C>T	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.613C>T	8.37:g.38065264C>T	ENSP00000287322:p.Pro205Ser					BAG4_uc003xkz.1_Missense_Mutation_p.P169S	p.P205S	NM_004874	NP_004865	O95429	BAG4_HUMAN			3	895	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	205					B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	c.613C>T	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031368	0.35797	.	.	ENSG00000156735	ENST00000432471;ENST00000287322;ENST00000521311	D;D	0.86562	-1.53;-2.14	5.3	2.56	0.30785	.	0.220018	0.47455	N	0.000224	T	0.74665	0.3746	N	0.20986	0.625	0.41865	D	0.990242	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.62062	-0.6933	10	0.35671	T	0.21	-1.9859	5.3654	0.16111	0.0:0.5609:0.136:0.3031	.	169;205	B4E217;O95429	.;BAG4_HUMAN	S	169;205;52	ENSP00000393298:P169S;ENSP00000287322:P205S	ENSP00000287322:P205S	P	+	1	0	BAG4	38184421	0.868000	0.29978	0.948000	0.38648	0.970000	0.65996	0.476000	0.22180	0.239000	0.21243	0.650000	0.86243	CCA		0.478	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2		NM_004874		13	78	0	0	0	0.020292	0	13	78		
CHD7	55636	broad.mit.edu	37	8	61769208	61769208	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:61769208A>T	ENST00000423902.2	+	34	7848	c.7369A>T	c.(7369-7371)Aat>Tat	p.N2457Y	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2457					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.N2457Y(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTCTACCTCAAATTTTTCATC	0.428																																						uc003xue.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(7369-7371)AAT>TAT		chromodomain helicase DNA binding protein 7							143.0	139.0	140.0					8																	61769208		1862	4085	5947	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61769208A>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7369A>T	8.37:g.61769208A>T	ENSP00000392028:p.Asn2457Tyr						p.N2457Y	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		34	7846	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2457					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7369A>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581864	0.46006	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.53206	0.63	5.1	5.1	0.69264	.	0.290613	0.33792	N	0.004546	T	0.30759	0.0775	N	0.08118	0	0.42374	D	0.992465	B	0.28512	0.214	B	0.28784	0.094	T	0.24764	-1.0151	10	0.56958	D	0.05	-23.8034	15.0385	0.71767	1.0:0.0:0.0:0.0	.	2457	Q9P2D1	CHD7_HUMAN	Y	2457	ENSP00000392028:N2457Y	ENSP00000307304:N2457Y	N	+	1	0	CHD7	61931762	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.088000	0.57678	2.141000	0.66446	0.460000	0.39030	AAT		0.428	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		17	98	0	0	0	0.006122	0	17	98		
PKHD1L1	93035	broad.mit.edu	37	8	110460508	110460508	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:110460508T>A	ENST00000378402.5	+	39	6017	c.5913T>A	c.(5911-5913)gaT>gaA	p.D1971E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1971	IPT/TIG 12.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D1973E(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCGTGGGAGATCATGCTGGGG	0.408										HNSCC(38;0.096)																												uc003yne.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5911-5913)GAT>GAA		fibrocystin L precursor							92.0	95.0	94.0					8																	110460508		2049	4205	6254	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110460508T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5913T>A	8.37:g.110460508T>A	ENSP00000367655:p.Asp1971Glu	HNSCC(38;0.096)					p.D1971E	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		39	6017	+			1971			Extracellular (Potential).|IPT/TIG 12.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5913T>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	3.009	-0.204301	0.06180	.	.	ENSG00000205038	ENST00000378402	T	0.75704	-0.96	5.49	-11.0	0.00169	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.632242	0.15990	N	0.234884	T	0.34745	0.0908	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.49485	-0.8935	10	0.02654	T	1	.	3.6124	0.08065	0.2593:0.3764:0.2618:0.1025	.	1971	Q86WI1	PKHL1_HUMAN	E	1971	ENSP00000367655:D1971E	ENSP00000367655:D1971E	D	+	3	2	PKHD1L1	110529684	0.010000	0.17322	0.152000	0.22495	0.689000	0.40095	-1.583000	0.02115	-2.430000	0.00557	-0.361000	0.07541	GAT		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		4	16	0	0	0	0.009096	0	4	16		
BNC2	54796	broad.mit.edu	37	9	16437456	16437456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr9:16437456G>A	ENST00000380672.4	-	6	793	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	BNC2_ENST00000380666.2_Nonsense_Mutation_p.Q246*|BNC2_ENST00000545497.1_Nonsense_Mutation_p.Q151*|BNC2_ENST00000380667.2_Nonsense_Mutation_p.Q179*	NM_017637.5	NP_060107.3			basonuclin 2									p.Q246*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGAAACTGCTGAAGGGTGATG	0.498																																						uc003zml.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(736-738)CAG>TAG		basonuclin 2							49.0	52.0	51.0					9																	16437456		2203	4300	6503	SO:0001587	stop_gained	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437456G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.736C>T	9.37:g.16437456G>A	ENSP00000370047:p.Gln246*					BNC2_uc011lmw.1_Nonsense_Mutation_p.Q151*|BNC2_uc003zmm.2_Nonsense_Mutation_p.Q204*|BNC2_uc003zmq.1_Nonsense_Mutation_p.Q260*|BNC2_uc003zmr.1_Nonsense_Mutation_p.Q283*|BNC2_uc003zmp.1_Nonsense_Mutation_p.Q274*|BNC2_uc010mij.1_Nonsense_Mutation_p.Q168*|BNC2_uc011lmv.1_Nonsense_Mutation_p.Q72*|BNC2_uc003zmo.1_Nonsense_Mutation_p.Q168*|BNC2_uc003zmj.2_Nonsense_Mutation_p.Q11*|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Nonsense_Mutation_p.Q11*|BNC2_uc003zmn.1_Nonsense_Mutation_p.Q11*	p.Q246*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	876	-			246						Nonsense_Mutation	SNP	ENST00000380672.4	37	c.736C>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785947	0.90282	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.9059	20.2697	0.98465	0.0:0.0:1.0:0.0	.	.	.	.	X	246;203;283;274;179;151;72;246;246	.	ENSP00000370041:Q246X	Q	-	1	0	BNC2	16427456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	CAG		0.498	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5		NM_017637		6	37	0	0	0	0.001984	0	6	37		
TNC	3371	broad.mit.edu	37	9	117810616	117810616	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr9:117810616C>T	ENST00000350763.4	-	16	5186	c.4775G>A	c.(4774-4776)gGc>gAc	p.G1592D	TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.G1228D|TNC_ENST00000481475.1_5'UTR	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1592	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.G1592D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATAGCCAATGCCAGTTATGAG	0.498																																						uc004bjj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(4774-4776)GGC>GAC		tenascin C precursor							121.0	114.0	116.0					9																	117810616		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117810616C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4775G>A	9.37:g.117810616C>T	ENSP00000265131:p.Gly1592Asp					TNC_uc010mvf.2_Intron	p.G1592D	NM_002160	NP_002151	P24821	TENA_HUMAN			16	5137	-			1592			Fibronectin type-III 11.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.4775G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518510	0.85495	.	.	ENSG00000041982	ENST00000340094;ENST00000350763	T;T	0.61742	0.08;0.08	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.63058	0.2479	L	0.32530	0.975	0.80722	D	1	D	0.61697	0.99	P	0.60949	0.881	T	0.55010	-0.8207	10	0.18276	T	0.48	.	18.007	0.89212	0.0:1.0:0.0:0.0	.	1592	P24821	TENA_HUMAN	D	1228;1592	ENSP00000344400:G1228D;ENSP00000265131:G1592D	ENSP00000344400:G1228D	G	-	2	0	TNC	116850437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.175000	0.77632	2.688000	0.91661	0.655000	0.94253	GGC		0.498	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2		NM_002160		15	42	0	0	0	0.003163	0	15	42		
NUP214	8021	broad.mit.edu	37	9	134026017	134026017	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr9:134026017G>C	ENST00000359428.5	+	16	2286	c.2142G>C	c.(2140-2142)caG>caC	p.Q714H	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.Q715H|NUP214_ENST00000411637.2_Missense_Mutation_p.Q704H			P35658	NU214_HUMAN	nucleoporin 214kDa	714	11 X 5 AA approximate repeats.				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)	p.Q714H(1)		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)		CACACTTTCAGAAGGAGTTGG	0.458			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NaN		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		urinary_tract(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(2140-2142)CAG>CAC		nucleoporin 214kDa							95.0	99.0	98.0					9																	134026017		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.chr9:134026017G>C	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.2142G>C	9.37:g.134026017G>C	ENSP00000352400:p.Gln714His					NUP214_uc004cah.2_Missense_Mutation_p.Q704H|NUP214_uc004cai.2_Missense_Mutation_p.Q144H|NUP214_uc004caf.1_Missense_Mutation_p.Q703H|NUP214_uc010mzf.2_Missense_Mutation_p.Q12H	p.Q714H	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	16	2253	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	714			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2142G>C	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844131	0.71488	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.36878	1.25;1.23;1.23	5.84	2.44	0.29823	.	0.000000	0.41712	D	0.000825	T	0.33673	0.0871	N	0.08118	0	0.54753	D	0.999988	D;D;D;D	0.89917	0.996;1.0;0.994;1.0	D;D;D;D	0.91635	0.989;0.999;0.943;0.999	T	0.25187	-1.0139	10	0.87932	D	0	-13.6507	6.2748	0.20975	0.5255:0.0:0.4745:0.0	.	703;308;704;714	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	H	714;704;715;703;308;143	ENSP00000352400:Q714H;ENSP00000396576:Q704H;ENSP00000405014:Q715H	ENSP00000352400:Q714H	Q	+	3	2	NUP214	133015838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.883000	0.39658	0.400000	0.25396	0.655000	0.94253	CAG		0.458	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2		NM_005085		16	83	0	0	0	0.004007	0	16	83		
VCX3B	425054	broad.mit.edu	37	X	8433508	8433508	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:8433508G>A	ENST00000381032.1	+	2	324	c.17G>A	c.(16-18)aGa>aAa	p.R6K	VCX3B_ENST00000453306.1_Missense_Mutation_p.R6K|VCX3B_ENST00000381029.4_Missense_Mutation_p.R6K|VCX3B_ENST00000444481.1_Missense_Mutation_p.R6K|VCX3B_ENST00000440654.2_Missense_Mutation_p.R6K	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	6						nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R6K(1)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CCAAAGCCGAGAGCCTCGGGA	0.612																																						uc010ndo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(16-18)AGA>AAA		variable charge, X-linked 3B							61.0	39.0	47.0					X																	8433508		1368	2310	3678	SO:0001583	missense	425054					nucleolus		g.chrX:8433508G>A		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.17G>A	X.37:g.8433508G>A	ENSP00000370420:p.Arg6Lys					VCX3B_uc011mht.1_Missense_Mutation_p.R6K|VCX3B_uc004csd.1_Missense_Mutation_p.R6K	p.R6K	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN			2	324	+			6					C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	c.17G>A	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	G	7.984	0.751733	0.15778	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481;ENST00000440654;ENST00000381029	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	0.421	-0.563	0.11778	.	.	.	.	.	T	0.10078	0.0247	L	0.34521	1.04	0.09310	N	1	P;P	0.40909	0.732;0.732	B;B	0.34242	0.178;0.178	T	0.27020	-1.0086	8	0.09843	T	0.71	.	.	.	.	.	6;6	Q9H321;E7ERZ8	VCX3B_HUMAN;.	K	6	ENSP00000370420:R6K;ENSP00000411785:R6K;ENSP00000414780:R6K;ENSP00000410372:R6K;ENSP00000370417:R6K	ENSP00000370417:R6K	R	+	2	0	VCX3B	8393508	0.007000	0.16637	0.001000	0.08648	0.001000	0.01503	1.202000	0.32271	-0.438000	0.07232	-0.435000	0.05868	AGA		0.612	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1				25	67	0	0	0	0.00632	0	25	67		
DDX3X	1654	broad.mit.edu	37	X	41204468	41204468	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:41204468A>T	ENST00000399959.2	+	11	1916	c.1061A>T	c.(1060-1062)gAt>gTt	p.D354V	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.D338V|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	354	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.D354V(2)|p.D354G(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CGGATGTTGGATATGGGGTTT	0.403										HNSCC(61;0.18)																												uc004dfe.2		NaN																	3	Substitution - Missense(3)		urinary_tract(1)|central_nervous_system(1)|pancreas(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(1060-1062)GAT>GTT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3							155.0	144.0	147.0					X																	41204468		2143	4278	6421	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41204468A>T	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1061A>T	X.37:g.41204468A>T	ENSP00000382840:p.Asp354Val	HNSCC(61;0.18)				DDX3X_uc004dff.2_Missense_Mutation_p.D354V|DDX3X_uc011mkq.1_Missense_Mutation_p.D338V|DDX3X_uc011mkr.1_Missense_Mutation_p.D354V|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	p.D354V	NM_001356	NP_001347	O00571	DDX3X_HUMAN			11	1916	+			354			Necessary for interaction with XPO1.|Helicase ATP-binding.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1061A>T	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	a	25.4	4.632687	0.87660	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.16597	2.33;2.33	5.5	5.5	0.81552	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.091287	0.64402	D	0.000001	T	0.53642	0.1809	H	0.94385	3.53	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.999;0.999	D;D;D;D	0.76071	0.987;0.98;0.974;0.974	T	0.68096	-0.5499	10	0.87932	D	0	-27.5497	14.6974	0.69132	1.0:0.0:0.0:0.0	.	354;338;366;354	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	V	354;338	ENSP00000382840:D354V;ENSP00000392494:D338V	ENSP00000382840:D354V	D	+	2	0	DDX3X	41089412	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.281000	0.95811	1.851000	0.53745	0.483000	0.47432	GAT		0.403	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1		NM_024005		39	176	0	0	0	0.00623	0	39	176		
TFE3	7030	broad.mit.edu	37	X	48895849	48895849	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:48895849G>A	ENST00000315869.7	-	4	912	c.653C>T	c.(652-654)cCa>cTa	p.P218L	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	218					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P218L(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CCCCGGCGGTGGGGTGAGGGC	0.706			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	uc004dmb.3		NaN		Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	2	Substitution - Missense(2)		urinary_tract(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.(652-654)CCA>CTA		transcription factor E3							19.0	19.0	19.0					X																	48895849		2198	4292	6490	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48895849G>A	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.653C>T	X.37:g.48895849G>A	ENSP00000314129:p.Pro218Leu					TFE3_uc004dmc.3_Missense_Mutation_p.P113L|TFE3_uc004dme.1_RNA	p.P218L	NM_006521	NP_006512	P19532	TFE3_HUMAN			4	891	-			218					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.653C>T	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306071	0.60305	.	.	ENSG00000068323	ENST00000315869	T	0.14516	2.5	5.9	5.9	0.94986	.	0.177038	0.50627	D	0.000116	T	0.10294	0.0252	N	0.12569	0.235	0.53688	D	0.99997	B	0.21225	0.053	B	0.16722	0.016	T	0.18116	-1.0347	10	0.40728	T	0.16	-10.8781	17.8543	0.88758	0.0:0.0:1.0:0.0	.	218	P19532	TFE3_HUMAN	L	218	ENSP00000314129:P218L	ENSP00000314129:P218L	P	-	2	0	TFE3	48782793	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.864000	0.62990	2.491000	0.84063	0.513000	0.50165	CCA		0.706	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2		NM_006521		4	13	0	0	0	0.014758	0	4	13		
ZC3H12B	340554	broad.mit.edu	37	X	64708913	64708913	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:64708913C>T	ENST00000338957.4	+	1	299	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R67C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	78							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.R67C(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAAGCCACACCGCCAGCTCTG	0.488																																						uc010nko.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|kidney(1)|pancreas(1)	3						c.(199-201)CGC>TGC		zinc finger CCCH-type containing 12B							67.0	76.0	73.0					X																	64708913		2050	4180	6230	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64708913C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.232C>T	X.37:g.64708913C>T	ENSP00000340839:p.Arg78Cys						p.R67C	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			1	208	+			67					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.199C>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608231	0.87258	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.34859	1.34;1.34	5.36	5.36	0.76844	.	0.110120	0.64402	D	0.000005	T	0.49695	0.1572	L	0.52905	1.665	0.80722	D	1	D	0.76494	0.999	P	0.56088	0.791	T	0.45934	-0.9227	10	0.48119	T	0.1	-9.2838	16.5466	0.84448	0.0:1.0:0.0:0.0	.	67	Q5HYM0	ZC12B_HUMAN	C	78;67;67	ENSP00000340839:R78C;ENSP00000408077:R67C	ENSP00000218172:R67C	R	+	1	0	ZC3H12B	64625638	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	2.473000	0.45145	2.483000	0.83821	0.506000	0.49869	CGC		0.488	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2		XM_293334		6	35	0	0	0	0.001984	0	6	35		
YIPF6	286451	broad.mit.edu	37	X	67741303	67741303	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:67741303C>T	ENST00000462683.1	+	5	1142	c.398C>T	c.(397-399)aCc>aTc	p.T133I	YIPF6_ENST00000374622.2_Missense_Mutation_p.T90I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	133					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)		p.T133I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GGTGCAGTTACCATCACCCTC	0.403																																						uc004dwy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(397-399)ACC>ATC		Yip1 domain family, member 6							174.0	149.0	157.0					X																	67741303		2203	4300	6503	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67741303C>T	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.398C>T	X.37:g.67741303C>T	ENSP00000417573:p.Thr133Ile					YIPF6_uc011mph.1_Missense_Mutation_p.T90I	p.T133I	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN			5	421	+			133			Helical; (Potential).		B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.398C>T	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	C	4.588	0.109283	0.08780	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.34275	1.37;1.37;1.37	5.3	2.36	0.29203	Yip1 domain (1);	0.217893	0.49305	N	0.000159	T	0.08626	0.0214	N	0.00496	-1.435	0.31644	N	0.647712	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.17167	-1.0378	10	0.14252	T	0.57	-2.5367	5.5022	0.16834	0.0:0.5425:0.0:0.4575	.	90;133	G5E997;Q96EC8	.;YIPF6_HUMAN	I	133;90;90	ENSP00000417573:T133I;ENSP00000401799:T90I;ENSP00000363751:T90I	ENSP00000363751:T90I	T	+	2	0	YIPF6	67658028	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.878000	0.56130	0.609000	0.30018	0.600000	0.82982	ACC		0.403	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1		NM_173834		16	70	0	0	0	0.00499	0	16	70		
FAM127A	8933	broad.mit.edu	37	X	134166743	134166743	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:134166743C>T	ENST00000257013.7	+	1	411	c.330C>T	c.(328-330)gaC>gaT	p.D110D	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)		p.R5*(1)|p.D110D(1)		endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					GGGAGGAGGACGAGGACTTCT	0.657																																						uc004eyd.2		NaN																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)		urinary_tract(2)		0						c.(328-330)GAC>GAT		family with sequence similarity 127, member A							35.0	36.0	36.0					X																	134166743		2196	4292	6488	SO:0001819	synonymous_variant	8933							g.chrX:134166743C>T	Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"""CAAX box 1"""	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.330C>T	X.37:g.134166743C>T						uc004eye.1_RNA	p.D110D	NM_001078171	NP_001071639	A6ZKI3	F127A_HUMAN			1	411	+	Acute lymphoblastic leukemia(192;0.000127)		110					Q6IBF1	Silent	SNP	ENST00000257013.7	37	c.330C>T	CCDS43997.1																																																																																				0.657	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058391.2		NM_001078171		8	30	0	0	0	0.004482	0	8	30		
ARID1A	8289	broad.mit.edu	37	1	27094409	27094410	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			AA	-	AA	AA		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:27094409_27094410delAA	ENST00000324856.7	+	11	3488_3489	c.3117_3118delAA	c.(3115-3120)acaaatfs	p.N1040fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.N1040fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.N657fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1040	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGGGCATGACAAATCTGCCTGC	0.535			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3115-3120)ACAAATfs		AT rich interactive domain 1A isoform a																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27094409_27094410delAA	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3117_3118delAA	1.37:g.27094409_27094410delAA	ENSP00000320485:p.Asn1040fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.T1039fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1039fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.T656fs	p.T1039fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	11	3490_3491	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1039_1040			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.3117_3118delAA	CCDS285.1																																																																																				0.535	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		69	98	NaN	NaN	NaN	NaN	NaN	69	98	---	---
GLIS1	148979	broad.mit.edu	37	1	53975643	53975644	+	Frame_Shift_Ins	INS	-	-	G	rs149623150		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:53975643_53975644insG	ENST00000312233.2	-	8	1981_1982	c.1415_1416insC	c.(1414-1416)ccgfs	p.P472fs		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGGCAGCGGCGGTGGCCCCAG	0.688																																						uc001cvr.1		NaN																	0				skin(1)	1						c.(1414-1416)CCGfs		GLIS family zinc finger 1																																				SO:0001589	frameshift_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53975643_53975644insG	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1416dupC	1.37:g.53975645_53975645dupG	ENSP00000309653:p.Pro472fs						p.P472fs	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			8	1982_1983	-			472			Pro-rich.			Frame_Shift_Ins	INS	ENST00000312233.2	37	c.1415_1416insC	CCDS582.1																																																																																				0.688	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1		NM_147193		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
PDXDC1	23042	broad.mit.edu	37	16	15110963	15110989	+	Splice_Site	DEL	GTTTTTTCTTCCAGTGTGAATCTGGCA	GTTTTTTCTTCCAGTGTGAATCTGGCA	-	rs3205773		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:15110963_15110989delGTTTTTTCTTCCAGTGTGAATCTGGCA	ENST00000396410.4	+	10	909_922	c.812_825delGTTTTTTCTTCCAGTGTGAATCTGGCA	c.(811-825)ggttttttcttccag>g	p.GFFFQ271del	PDXDC1_ENST00000535621.2_Splice_Site_p.GFFFQ271del|PDXDC1_ENST00000450288.2_Splice_Site_p.GFFFQ243del|PDXDC1_ENST00000447912.2_Splice_Site_p.GFFFQ180del|PDXDC1_ENST00000569715.1_Splice_Site_p.GFFFQ244del|PDXDC1_ENST00000455313.2_Splice_Site_p.GFFFQ248del|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000325823.7_Splice_Site_p.GFFFQ256del|PDXDC1_ENST00000563679.1_Splice_Site_p.GFFFQ289del	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	271					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGGACTGGTGTTTTTTCTTCCAGTGTGAATCTGGCAACATTGGCTC	0.348																																						uc002dda.3		NaN																	0				skin(1)	1						c.e10-1		pyridoxal-dependent decarboxylase domain	Pyridoxal Phosphate(DB00114)																																			SO:0001630	splice_region_variant	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15110963_15110989delGTTTTTTCTTCCAGTGTGAATCTGGCA	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.813-1GTTTTTTCTTCCAGTGTGAATCTGGCA>-	16.37:g.15110963_15110989delGTTTTTTCTTCCAGTGTGAATCTGGCA						PDXDC1_uc010uzl.1_Splice_Site_p.G256_splice|PDXDC1_uc010uzm.1_Splice_Site_p.G180_splice|PDXDC1_uc002dcz.2_Splice_Site_p.G248_splice|PDXDC1_uc002ddb.3_Splice_Site_p.G244_splice|PDXDC1_uc010uzn.1_Splice_Site_p.G243_splice|PDXDC1_uc002ddc.2_Splice_Site_p.G271_splice	p.G271_splice	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN			10	1037	+								B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Splice_Site	DEL	ENST00000396410.4	37	c.813_splice	CCDS32393.1																																																																																				0.348	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2		NM_015027	In_Frame_Del	8	702	NaN	NaN	NaN	NaN	NaN	8	702	---	---
RUNX2	860	broad.mit.edu	37	6	45514577	45514577	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:45514577delG	ENST00000371438.1	+	8	1459	c.1101delG	c.(1099-1101)ctgfs	p.L367fs	RUNX2_ENST00000371436.6_Frame_Shift_Del_p.L345fs|RUNX2_ENST00000465038.2_Frame_Shift_Del_p.L367fs|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000541979.1_Frame_Shift_Del_p.L413fs|RUNX2_ENST00000371432.3_Frame_Shift_Del_p.L331fs|RUNX2_ENST00000352853.5_Frame_Shift_Del_p.L435fs|RUNX2_ENST00000359524.5_Frame_Shift_Del_p.L353fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	367	Interaction with KAT6A. {ECO:0000250}.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTCAGAACTGGGCCCTTTTT	0.393																																						uc011dvx.1		NaN																	0				ovary(2)|skin(1)	3						c.(1099-1101)CTGfs		runt-related transcription factor 2 isoform a							84.0	87.0	86.0					6																	45514577		2203	4300	6503	SO:0001589	frameshift_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514577delG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1101delG	6.37:g.45514577delG	ENSP00000360493:p.Leu367fs					RUNX2_uc011dvy.1_Frame_Shift_Del_p.L345fs|RUNX2_uc003oxt.2_Frame_Shift_Del_p.L353fs	p.L367fs	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			9	1311	+			367			Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.		O14614|O14615|O95181	Frame_Shift_Del	DEL	ENST00000371438.1	37	c.1101delG	CCDS43467.2																																																																																				0.393	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2		NM_004348		15	80	NaN	NaN	NaN	NaN	NaN	15	80	---	---
