#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CTSD	1509	broad.mit.edu	37	11	1776220	1776220	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:1776220C>A	ENST00000236671.2	-	6	875	c.743G>T	c.(742-744)gGt>gTt	p.G248V	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.V119L	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	248					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTCTGTGCCACCCAGCATCAG	0.597																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(742-744)gGt>gTt		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						112.0	100.0	104.0					11																	1776220		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1776220C>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.743G>T	11.37:g.1776220C>A	ENSP00000236671:p.Gly248Val					RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.V119L	p.G248V	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	6	875	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	248					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.743G>T	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.04|17.04	3.288546|3.288546	0.59976|0.59976	.|.	.|.	ENSG00000117984|ENSG00000250644	ENST00000236671;ENST00000438213|ENST00000427721	D;D|.	0.94092|.	-3.35;-2.06|.	4.25|4.25	4.25|4.25	0.50352|0.50352	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.92093|0.92093	0.7494|0.7494	H|H	0.99929|0.99929	4.97|4.97	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.96083|0.96083	0.9055|0.9055	10|5	0.87932|.	D|.	0|.	.|.	17.2115|17.2115	0.86931|0.86931	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	248|.	P07339|.	CATD_HUMAN|.	V|L	248;233|119	ENSP00000236671:G248V;ENSP00000415036:G233V|.	ENSP00000236671:G248V|.	G|V	-|-	2|1	0|0	CTSD|RP11-295K3.1	1732796|1732796	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.149000|0.149000	0.21700|0.21700	5.195000|5.195000	0.65131|0.65131	2.373000|2.373000	0.80994|0.80994	0.455000|0.455000	0.32223|0.32223	GGT|GTG		0.597	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		44	59	1	0	8.86878e-18	1	9.54066e-18	44	59				
SART1	9092	broad.mit.edu	37	11	65726678	65726678	+	5'Flank	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:65726678C>T	ENST00000312397.5	+	0	0				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						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)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGGCTCACCGTCACTCGGC	0.652																																						ENST00000532620.1																			0				endometrium(2)|kidney(3)|lung(9)	14								testis specific, 10 interacting protein							25.0	28.0	27.0					11																	65726678		2052	4199	6251	SO:0001631	upstream_gene_variant	254187							g.chr11:65726678C>T	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		11.37:g.65726678C>T	Exception_encountered									Q3SY00	T10IP_HUMAN			0	1671	+								A6NDN1|Q53GB5	RNA	SNP	ENST00000312397.5	37		CCDS31611.1																																																																																				0.652	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			9	6	0	0	0	1	0	9	6				
TMEM259	91304	broad.mit.edu	37	19	1012507	1012507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:1012507C>T	ENST00000356663.3	-	4	794	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	TMEM259_ENST00000333175.5_Missense_Mutation_p.A225T	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	225						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TGGCGGGTGGCCTGCGACAGG	0.667																																						ENST00000356663.3																			0											c.(673-675)Gcc>Acc		transmembrane protein 259							27.0	27.0	27.0					19																	1012507		2181	4265	6446	SO:0001583	missense	91304							g.chr19:1012507C>T	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.673G>A	19.37:g.1012507C>T	ENSP00000349087:p.Ala225Thr					TMEM259_ENST00000333175.5_Missense_Mutation_p.A225T	p.A225T	NM_001033026.1	NP_001028198.1					4	794	-								O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	c.673G>A	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	C	8.843	0.942781	0.18281	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.06	2.95	0.34219	.	0.410752	0.26109	N	0.026293	T	0.45296	0.1335	L	0.51914	1.62	0.36955	D	0.893053	B;B	0.21821	0.061;0.056	B;B	0.28305	0.026;0.088	T	0.46005	-0.9222	9	0.26408	T	0.33	-6.7029	3.7677	0.08629	0.0:0.6574:0.0:0.3425	.	225;225	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	T	225	.	ENSP00000331423:A225T	A	-	1	0	C19orf6	963507	1.000000	0.71417	0.998000	0.56505	0.023000	0.10783	4.231000	0.58639	2.092000	0.63282	0.462000	0.41574	GCC		0.667	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		7	8	0	0	0	1	0	7	8				
SNED1	25992	broad.mit.edu	37	2	241992689	241992689	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:241992689C>T	ENST00000310397.8	+	16	2203	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	SNED1_ENST00000342631.6_Missense_Mutation_p.R735C|SNED1_ENST00000401884.1_Missense_Mutation_p.R735C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000405547.3_Missense_Mutation_p.R735C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	735	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGCCCCCAGCCGCATCCGGGT	0.687																																						ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(2203-2205)Cgc>Tgc		sushi, nidogen and EGF-like domains 1							36.0	43.0	41.0					2																	241992689		1962	4127	6089	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:241992689C>T	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2203C>T	2.37:g.241992689C>T	ENSP00000308893:p.Arg735Cys					AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.R735C|SNED1_ENST00000342631.6_Missense_Mutation_p.R735C|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000405547.3_Missense_Mutation_p.R735C	p.R735C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	16	2203	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	735			Sushi.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.2203C>T	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372953	0.24857	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	4.03	1.91	0.25777	Complement control module (1);Sushi/SCR/CCP (2);	1.057010	0.07430	N	0.895535	T	0.26340	0.0643	L	0.42245	1.32	0.09310	N	1	D	0.61080	0.989	P	0.46452	0.517	T	0.18967	-1.0320	10	0.56958	D	0.05	.	6.6145	0.22769	0.3485:0.5411:0.0:0.1104	.	735	Q8TER0	SNED1_HUMAN	C	735	ENSP00000384871:R735C;ENSP00000386007:R735C;ENSP00000308893:R735C;ENSP00000342992:R735C	ENSP00000308893:R735C	R	+	1	0	SNED1	241641362	0.002000	0.14202	0.002000	0.10522	0.093000	0.18481	0.476000	0.22180	0.680000	0.31366	0.462000	0.41574	CGC		0.687	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		35	57	0	0	0	1	0	35	57				
EXTL2	2135	broad.mit.edu	37	1	101343089	101343089	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:101343089G>T	ENST00000370114.3	-	3	1812	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	EXTL2_ENST00000370113.3_Missense_Mutation_p.Q126K|EXTL2_ENST00000535414.1_Missense_Mutation_p.Q113K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	126					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTGCTGTCTGTTGTTTGAAG	0.473																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(376-378)Cag>Aag		exostosin-like glycosyltransferase 2							115.0	112.0	113.0					1																	101343089		2203	4299	6502	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101343089G>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.376C>A	1.37:g.101343089G>T	ENSP00000359132:p.Gln126Lys					EXTL2_ENST00000535414.1_Missense_Mutation_p.Q113K|EXTL2_ENST00000370113.3_Missense_Mutation_p.Q126K	p.Q126K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	3	1812	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	126					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.376C>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988111	0.93106	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.61	5.61	0.85477	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	M	0.82056	2.57	0.80722	D	1	D;D	0.76494	0.999;0.985	D;P	0.68192	0.956;0.713	D	0.91856	0.5495	10	0.66056	D	0.02	-16.289	20.0018	0.97417	0.0:0.0:1.0:0.0	.	126;126	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	K	126;126;113;134;113	ENSP00000359132:Q126K;ENSP00000359131:Q126K;ENSP00000444385:Q113K;ENSP00000403363:Q134K;ENSP00000392255:Q113K	ENSP00000359131:Q126K	Q	-	1	0	EXTL2	101115677	1.000000	0.71417	0.478000	0.27316	0.992000	0.81027	9.420000	0.97426	2.793000	0.96121	0.655000	0.94253	CAG		0.473	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		56	49	1	0	3.76997e-23	1	4.18231e-23	56	49				
LPIN2	9663	broad.mit.edu	37	18	2923857	2923857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr18:2923857G>A	ENST00000261596.4	-	16	2328	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	697	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CAAAGCATCCGACCTAAGAAG	0.468																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(2089-2091)tCg>tTg		lipin 2							115.0	107.0	110.0					18																	2923857		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2923857G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2090C>T	18.37:g.2923857G>A	ENSP00000261596:p.Ser697Leu						p.S697L	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	16	2328	-			697			C-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.2090C>T	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616540	0.87359	.	.	ENSG00000101577	ENST00000261596	D	0.84660	-1.88	6.07	6.07	0.98685	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95666	0.8719	10	0.87932	D	0	-20.7431	20.6439	0.99570	0.0:0.0:1.0:0.0	.	697	Q92539	LPIN2_HUMAN	L	697	ENSP00000261596:S697L	ENSP00000261596:S697L	S	-	2	0	LPIN2	2913857	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.334000	0.96470	2.884000	0.98904	0.655000	0.94253	TCG		0.468	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		32	40	0	0	0	1	0	32	40				
ADCYAP1R1	117	broad.mit.edu	37	7	31146176	31146176	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:31146176A>C	ENST00000304166.4	+	16	1574	c.1285A>C	c.(1285-1287)Aag>Cag	p.K429Q	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.K408Q|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.K457Q|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.K485Q	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	429					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGTGGACTTCAAGCACCGACA	0.587																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(1285-1287)Aag>Cag		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							123.0	108.0	113.0					7																	31146176		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31146176A>C		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1285A>C	7.37:g.31146176A>C	ENSP00000306620:p.Lys429Gln					ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.K408Q|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.K457Q|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.K485Q	p.K429Q	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			16	1574	+			429					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.1285A>C	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752224	0.89753	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.78547	0.4300	M	0.66939	2.045	0.51767	D	0.999933	D;P;D;P;P	0.58970	0.96;0.919;0.984;0.729;0.729	P;P;P;B;B	0.57009	0.754;0.71;0.811;0.412;0.412	T	0.80867	-0.1190	10	0.62326	D	0.03	.	12.9402	0.58337	1.0:0.0:0.0:0.0	.	456;457;485;408;429	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	Q	429;408;457;485	ENSP00000306620:K429Q;ENSP00000387335:K408Q;ENSP00000379514:K457Q;ENSP00000386395:K485Q	ENSP00000306620:K429Q	K	+	1	0	ADCYAP1R1	31112701	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.287000	0.95975	2.019000	0.59389	0.533000	0.62120	AAG		0.587	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		17	72	0	0	0	1	0	17	72				
PTEN	5728	broad.mit.edu	37	10	89720875	89720875	+	Splice_Site	SNP	G	G	A	rs398123313|rs398123314		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr10:89720875G>A	ENST00000371953.3	+	8	2383	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	342	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		K -> N (in CWS1; reduced phosphatase activity towards Ins(1,3,4,5)P4 but PtdIns(3,4,5)P3 phosphatase activity is similar to wild-type).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K342N(2)|p.G165_*404del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAATTTTAAGGTCAGTTAAA	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		52	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(2)|Deletion - In frame(2)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K342N(2)|p.G165_*404del(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(11)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e8+1		phosphatase and tensin homolog							45.0	48.0	47.0					10																	89720875		2203	4299	6502	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720875G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1026+1G>A	10.37:g.89720875G>A		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.K342_splice	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2383	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	342		K -> N (in CD; reduced phosphatase activity towards Ins(1,3,4,5)P4 but PtdIns(3,4,5)P3 phosphatase activity is similar to wild-type).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.1026_splice	CCDS31238.1																																																																																				0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Silent	43	19	0	0	0	1	0	43	19				
GANAB	23193	broad.mit.edu	37	11	62406923	62406923	+	Missense_Mutation	SNP	G	G	A	rs555826381		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:62406923G>A	ENST00000356638.3	-	3	176	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	GANAB_ENST00000346178.4_Missense_Mutation_p.R54W|GANAB_ENST00000534779.1_Intron|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Intron	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	54					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	AGGCCTGGCCGTATGCTTCTC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17925	0.0		0.0	False		,,,				2504	0.0				Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(160-162)Cgg>Tgg		glucosidase, alpha; neutral AB							85.0	79.0	81.0					11																	62406923		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62406923G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.160C>T	11.37:g.62406923G>A	ENSP00000349053:p.Arg54Trp					GANAB_ENST00000534779.1_Intron|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000356638.3_Missense_Mutation_p.R54W|GANAB_ENST00000540933.1_Intron	p.R54W	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			3	175	-			54					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.160C>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442974	0.63067	.	.	ENSG00000089597	ENST00000346178;ENST00000356638	D;D	0.88664	-2.41;-2.35	4.79	3.86	0.44501	Glycoside hydrolase-type carbohydrate-binding (1);	0.420024	0.25558	N	0.029853	D	0.86468	0.5940	L	0.29908	0.895	0.80722	D	1	D;D	0.57899	0.981;0.958	P;P	0.51229	0.462;0.663	D	0.87010	0.2122	10	0.66056	D	0.02	-12.5768	12.0347	0.53418	0.0:0.0:0.826:0.174	.	54;54	Q14697;Q14697-2	GANAB_HUMAN;.	W	54	ENSP00000340466:R54W;ENSP00000349053:R54W	ENSP00000340466:R54W	R	-	1	2	GANAB	62163499	0.846000	0.29590	0.996000	0.52242	0.909000	0.53808	2.209000	0.42806	1.212000	0.43366	0.556000	0.70494	CGG		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		3	52	0	0	0	1	0	3	52				
NLRP2	55655	broad.mit.edu	37	19	55508845	55508845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:55508845C>T	ENST00000543010.1	+	12	3183	c.3040C>T	c.(3040-3042)Cgg>Tgg	p.R1014W	NLRP2_ENST00000263437.6_Missense_Mutation_p.R1011W|NLRP2_ENST00000427260.2_Missense_Mutation_p.R991W|NLRP2_ENST00000538819.1_Missense_Mutation_p.R990W|NLRP2_ENST00000537859.1_Missense_Mutation_p.R992W|NLRP2_ENST00000391721.4_Missense_Mutation_p.R990W|NLRP2_ENST00000448584.2_Missense_Mutation_p.R1014W|NLRP2_ENST00000339757.7_Missense_Mutation_p.R992W	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1014					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGCACCCTCCGGACACTCAG	0.512																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(3040-3042)Cgg>Tgg		NLR family, pyrin domain containing 2							167.0	152.0	157.0					19																	55508845		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55508845C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.3040C>T	19.37:g.55508845C>T	ENSP00000445135:p.Arg1014Trp					NLRP2_ENST00000448584.2_Missense_Mutation_p.R1014W|NLRP2_ENST00000263437.6_Missense_Mutation_p.R1011W|NLRP2_ENST00000427260.2_Missense_Mutation_p.R991W|NLRP2_ENST00000537859.1_Missense_Mutation_p.R992W|NLRP2_ENST00000339757.7_Missense_Mutation_p.R992W|NLRP2_ENST00000391721.4_Missense_Mutation_p.R990W|NLRP2_ENST00000538819.1_Missense_Mutation_p.R990W	p.R1014W	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	12	3183	+			1014					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.3040C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157383	0.38119	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	2.89	1.67	0.24075	.	1.721060	0.04021	N	0.299825	T	0.60183	0.2249	L	0.43923	1.385	0.09310	N	1	D;D;D;D;D	0.69078	0.99;0.997;0.994;0.994;0.99	P;P;P;P;P	0.58520	0.724;0.785;0.724;0.84;0.696	T	0.51196	-0.8736	10	0.87932	D	0	.	6.9078	0.24319	0.0:0.7093:0.2907:0.0	.	991;992;1011;990;1014	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	W	1014;990;992;1014;992;991;990;1011	ENSP00000445135:R1014W;ENSP00000375601:R990W;ENSP00000344074:R992W;ENSP00000409370:R1014W;ENSP00000440601:R992W;ENSP00000402474:R991W;ENSP00000441133:R990W;ENSP00000263437:R1011W	ENSP00000263437:R1011W	R	+	1	2	NLRP2	60200657	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.365000	0.02587	1.577000	0.49804	0.561000	0.74099	CGG		0.512	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		44	65	0	0	0	1	0	44	65				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.G539A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1615-1617)gGg>gCg									53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	0							g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	p.G539A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		5	144	0	0	0	1	0	5	144				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	51	0	0	0	1	0	4	51				
IL18RAP	8807	broad.mit.edu	37	2	103040545	103040545	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:103040545C>T	ENST00000264260.2	+	4	934	c.345C>T	c.(343-345)acC>acT	p.T115T	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	115					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACTTTTTGACCCCAGGGGTGA	0.373																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(343-345)acC>acT		interleukin 18 receptor accessory protein							71.0	70.0	71.0					2																	103040545		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040545C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.345C>T	2.37:g.103040545C>T						IL18RAP_ENST00000409369.1_Intron	p.T115T	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			4	934	+			115					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.345C>T	CCDS2061.1																																																																																				0.373	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		35	56	0	0	0	1	0	35	56				
RFPL2	10739	broad.mit.edu	37	22	32587158	32587158	+	Silent	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:32587158G>A	ENST00000400237.1	-	5	1673	c.738C>T	c.(736-738)gaC>gaT	p.D246D	RFPL2_ENST00000248983.4_Silent_p.D156D|RFPL2_ENST00000248980.4_Silent_p.D185D|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Silent_p.D156D			O75678	RFPL2_HUMAN	ret finger protein-like 2	246	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TTGTTCCCACGTCCACCTCCC	0.567																																						ENST00000400236.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(466-468)gaC>gaT		ret finger protein-like 2							106.0	103.0	104.0					22																	32587158		2203	4300	6503	SO:0001819	synonymous_variant	10739						zinc ion binding	g.chr22:32587158G>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.738C>T	22.37:g.32587158G>A						RFPL2_ENST00000400237.1_Silent_p.D246D|RFPL2_ENST00000248983.4_Silent_p.D156D|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Silent_p.D185D	p.D156D	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN			5	1673	-			246						Silent	SNP	ENST00000400237.1	37	c.468C>T	CCDS43009.2																																																																																				0.567	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		44	73	0	0	0	1	0	44	73				
TNFSF14	8740	broad.mit.edu	37	19	6665007	6665007	+	Missense_Mutation	SNP	C	C	T	rs150171386		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:6665007C>T	ENST00000599359.1	-	5	1034	c.653G>A	c.(652-654)cGt>cAt	p.R218H	TNFSF14_ENST00000326176.9_Missense_Mutation_p.R182H|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R182H			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	218					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ATCCAGCACACGGACGACCAC	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17693	0.0		0.0	False		,,,				2504	0.0					ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(544-546)cGt>cAt		tumor necrosis factor (ligand) superfamily, member 14		C	HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	168.0	137.0	148.0		653,545	4.5	0.5	19	dbSNP_134	148	0,8600		0,0,4300	yes	missense,missense	TNFSF14	NM_003807.3,NM_172014.2	29,29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging	218/241,182/205	6665007	4,13002	2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6665007C>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.653G>A	19.37:g.6665007C>T	ENSP00000469049:p.Arg218His					TNFSF14_ENST00000245912.3_Missense_Mutation_p.R182H|TNFSF14_ENST00000599359.1_Missense_Mutation_p.R218H	p.R182H	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	926	-			218					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.545G>A	CCDS12171.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	15.02	2.707964	0.48412	9.08E-4	0.0	ENSG00000125735	ENST00000245912;ENST00000326176	D	0.94417	-3.42	4.46	4.46	0.54185	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.370718	0.23969	N	0.042783	D	0.94387	0.8195	M	0.70275	2.135	0.33848	D	0.632246	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.976	D	0.94619	0.7811	10	0.44086	T	0.13	-9.4563	6.9672	0.24629	0.0:0.8025:0.0:0.1975	.	218;182	O43557;O43557-2	TNF14_HUMAN;.	H	218;182	ENSP00000326940:R182H	ENSP00000245912:R218H	R	-	2	0	TNFSF14	6616007	0.991000	0.36638	0.512000	0.27736	0.296000	0.27459	3.112000	0.50368	2.038000	0.60285	0.561000	0.74099	CGT		0.622	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			27	55	0	0	0	1	0	27	55				
VPS54	51542	broad.mit.edu	37	2	64193065	64193065	+	Silent	SNP	G	G	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:64193065G>T	ENST00000272322.4	-	6	682	c.528C>A	c.(526-528)tcC>tcA	p.S176S	VPS54_ENST00000354504.3_Silent_p.S59S|VPS54_ENST00000409558.4_Silent_p.S164S			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	176					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TAAAAGTTAAGGAATCATCCA	0.313																																						ENST00000354504.3																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(175-177)tcC>tcA		vacuolar protein sorting 54 homolog (S. cerevisiae)							56.0	62.0	60.0					2																	64193065		2203	4300	6503	SO:0001819	synonymous_variant	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64193065G>T	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.528C>A	2.37:g.64193065G>T						VPS54_ENST00000272322.4_Silent_p.S176S|VPS54_ENST00000409558.3_Silent_p.S164S	p.S59S			Q9P1Q0	VPS54_HUMAN			4	766	-			176					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	c.177C>A	CCDS33208.1																																																																																				0.313	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		37	26	1	0	1.30998e-17	1	1.38819e-17	37	26				
POLRMT	5442	broad.mit.edu	37	19	621242	621242	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:621242T>A	ENST00000588649.2	-	10	2540	c.2456A>T	c.(2455-2457)gAc>gTc	p.D819V	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	819	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCGCCACGTCGCTGCCCAG	0.701																																						ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(2455-2457)gAc>gTc		polymerase (RNA) mitochondrial (DNA directed)							10.0	14.0	13.0					19																	621242		2166	4243	6409	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:621242T>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2456A>T	19.37:g.621242T>A	ENSP00000465759:p.Asp819Val						p.D819V	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	2540	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	819			Mediates interaction with TEFM.		O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.2456A>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	26.3	4.720747	0.89205	.	.	ENSG00000099821	ENST00000215591	T	0.69685	-0.42	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.87325	0.6149	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91334	0.5092	10	0.87932	D	0	-60.1537	13.7613	0.62968	0.0:0.0:0.0:1.0	.	819	O00411	RPOM_HUMAN	V	819	ENSP00000215591:D819V	ENSP00000215591:D819V	D	-	2	0	POLRMT	572242	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.442000	0.80503	1.850000	0.53721	0.374000	0.22700	GAC		0.701	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		8	12	0	0	0	1	0	8	12				
ZSCAN1	284312	broad.mit.edu	37	19	58549411	58549411	+	Silent	SNP	C	C	G			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:58549411C>G	ENST00000282326.1	+	3	454	c.207C>G	c.(205-207)ccC>ccG	p.P69P	ZSCAN1_ENST00000391700.1_Silent_p.P69P|ZSCAN1_ENST00000601162.1_Silent_p.P69P	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	69	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCTGAGGCCCGAGGCGCGCT	0.706																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(205-207)ccC>ccG		zinc finger and SCAN domain containing 1							15.0	15.0	15.0					19																	58549411		2147	4222	6369	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549411C>G	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.207C>G	19.37:g.58549411C>G						ZSCAN1_ENST00000391700.1_Silent_p.P69P|ZSCAN1_ENST00000601162.1_Silent_p.P69P	p.P69P	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	454	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	69			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.207C>G	CCDS12969.1																																																																																				0.706	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		9	21	0	0	0	1	0	9	21				
ABHD5	51099	broad.mit.edu	37	3	43759313	43759313	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr3:43759313C>T	ENST00000458276.2	+	6	1047	c.924C>T	c.(922-924)atC>atT	p.I308I	ABHD5_ENST00000463153.1_3'UTR	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	308					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GCACCAGCATCCAGTCCTTAC	0.453																																						ENST00000458276.2																			0				kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14						c.(922-924)atC>atT		abhydrolase domain containing 5							141.0	132.0	135.0					3																	43759313		2203	4300	6503	SO:0001819	synonymous_variant	51099				cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	g.chr3:43759313C>T	AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"""Abhydrolase domain containing"""	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.924C>T	3.37:g.43759313C>T						ABHD5_ENST00000463153.1_3'UTR	p.I308I	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)	6	1047	+		Renal(3;0.0134)	308					B2R9K0|Q9Y369	Silent	SNP	ENST00000458276.2	37	c.924C>T	CCDS2711.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943270	0.73672	.	.	ENSG00000011198	ENST00000413300	D	0.94330	-3.4	5.68	4.81	0.61882	.	.	.	.	.	D	0.94364	0.8188	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.93948	0.7229	6	0.62326	D	0.03	-0.0048	9.5105	0.39074	0.1417:0.7868:0.0:0.0715	.	.	.	.	S	109	ENSP00000392159:P109S	ENSP00000392159:P109S	P	+	1	0	ABHD5	43734317	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.609000	0.54117	1.412000	0.46977	-0.229000	0.12294	CCA		0.453	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		10	93	0	0	0	1	0	10	93				
CAGE1	285782	broad.mit.edu	37	6	7373751	7373751	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:7373751G>A	ENST00000512086.1	-	5	1503	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	CAGE1_ENST00000502583.1_Missense_Mutation_p.S434F|CAGE1_ENST00000296742.7_Missense_Mutation_p.S298F|CAGE1_ENST00000338150.4_Missense_Mutation_p.S434F|CAGE1_ENST00000379918.4_Missense_Mutation_p.S434F|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	434										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTGACTTACAGATTTATTTTT	0.343																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1300-1302)tCt>tTt		cancer antigen 1							121.0	108.0	112.0					6																	7373751		1838	4090	5928	SO:0001583	missense	285782							g.chr6:7373751G>A	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1301C>T	6.37:g.7373751G>A	ENSP00000427583:p.Ser434Phe					CAGE1_ENST00000338150.4_Missense_Mutation_p.S434F|CAGE1_ENST00000296742.7_Missense_Mutation_p.S298F|CAGE1_ENST00000379918.4_Missense_Mutation_p.S434F|CAGE1_ENST00000512086.1_Missense_Mutation_p.S434F	p.S434F	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			5	1865	-	Ovarian(93;0.0418)		434					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1301C>T		.	.	.	.	.	.	.	.	.	.	G	7.364	0.625388	0.14257	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	5.54	1.48	0.22813	.	0.435373	0.22150	N	0.063935	T	0.18841	0.0452	L	0.38175	1.15	0.09310	N	1	P;P;P	0.49090	0.919;0.919;0.919	P;B;P	0.54312	0.748;0.325;0.61	T	0.05053	-1.0909	10	0.49607	T	0.09	-0.6309	3.9512	0.09369	0.0848:0.3036:0.4552:0.1564	.	434;434;434	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	F	434;434;434;298;434;434;434;446	ENSP00000369250:S434F;ENSP00000425493:S434F;ENSP00000296742:S298F;ENSP00000427583:S434F;ENSP00000338107:S434F;ENSP00000423789:S446F	ENSP00000296742:S298F	S	-	2	0	CAGE1	7318750	0.110000	0.22057	0.000000	0.03702	0.008000	0.06430	0.332000	0.19751	0.284000	0.22305	-0.274000	0.10170	TCT		0.343	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		16	43	0	0	0	1	0	16	43				
PCDHGB7	56099	broad.mit.edu	37	5	140797577	140797577	+	Missense_Mutation	SNP	G	G	A	rs185303697	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr5:140797577G>A	ENST00000398594.2	+	1	151	c.151G>A	c.(151-153)Gct>Act	p.A51T	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAACCTCGCTAAGGATCT	0.607											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(151-153)Gct>Act									57.0	62.0	60.0					5																	140797577		1954	4149	6103	SO:0001583	missense	0							g.chr5:140797577G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.151G>A	5.37:g.140797577G>A	ENSP00000381594:p.Ala51Thr		OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.A51T	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	151	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.151G>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.448772	0.84101	.	.	ENSG00000254122	ENST00000398594	T	0.55413	0.52	5.92	5.92	0.95590	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	0.000000	0.32703	U	0.005756	T	0.75228	0.3821	M	0.81614	2.55	0.30229	N	0.796128	D;D	0.76494	0.999;0.999	D;D	0.68353	0.941;0.957	T	0.74334	-0.3699	10	0.72032	D	0.01	.	19.9447	0.97177	0.0:0.0:1.0:0.0	.	51;51	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	T	51	ENSP00000381594:A51T	ENSP00000381594:A51T	A	+	1	0	PCDHGB7	140777761	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	4.780000	0.62382	2.822000	0.97130	0.650000	0.86243	GCT		0.607	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		20	35	0	0	0	1	0	20	35				
MUC16	94025	broad.mit.edu	37	19	8976426	8976426	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:8976426C>A	ENST00000397910.4	-	75	42605	c.42402G>T	c.(42400-42402)gaG>gaT	p.E14134D	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.E775D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14165	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCATCCTTCTCAGGCCTGG	0.612																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42400-42402)gaG>gaT		mucin 16, cell surface associated							30.0	30.0	30.0					19																	8976426		1942	4148	6090	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8976426C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42402G>T	19.37:g.8976426C>A	ENSP00000381008:p.Glu14134Asp					MUC16_ENST00000380951.5_Missense_Mutation_p.E775D|MUC16_ENST00000596956.1_Intron	p.E14134D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			75	42605	-			14165	Missing (in Ref. 3; AAK74120).		SEA 14.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42402G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.608|7.608	0.674148|0.674148	0.14841|0.14841	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.42900|.	0.96;0.96|.	4.07|4.07	1.85|1.85	0.25348|0.25348	SEA (1);|.	1.478880|.	0.04787|.	N|.	0.430999|.	T|T	0.69424|0.69424	0.3109|0.3109	M|M	0.86178|0.86178	2.8|2.8	.|.	.|.	.|.	B;P|.	0.46656|.	0.01;0.882|.	B;D|.	0.65874|.	0.015;0.939|.	T|T	0.75852|0.75852	-0.3171|-0.3171	9|4	0.17369|.	T|.	0.5|.	.|.	9.1158|9.1158	0.36758|0.36758	0.3978:0.6022:0.0:0.0|0.3978:0.6022:0.0:0.0	.|.	21779;14134|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	D|I	14134;775|957	ENSP00000381008:E14134D;ENSP00000370338:E775D|.	ENSP00000370338:E775D|.	E|R	-|-	3|2	2|0	MUC16|MUC16	8837426|8837426	0.000000|0.000000	0.05858|0.05858	0.854000|0.854000	0.33618|0.33618	0.085000|0.085000	0.17905|0.17905	0.451000|0.451000	0.21779|0.21779	0.465000|0.465000	0.27167|0.27167	-0.317000|-0.317000	0.08691|0.08691	GAG|AGA		0.612	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	40	1	0	0.014758	1	0.014758	4	40				
PTPN5	84867	broad.mit.edu	37	11	18765712	18765712	+	Silent	SNP	G	G	A	rs367543233		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:18765712G>A	ENST00000358540.2	-	4	562	c.132C>T	c.(130-132)gaC>gaT	p.D44D	PTPN5_ENST00000396167.2_Silent_p.D44D|PTPN5_ENST00000477854.1_5'Flank|PTPN5_ENST00000396170.1_Silent_p.D44D|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396171.4_Silent_p.D44D|PTPN5_ENST00000396168.1_Silent_p.D20D	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	44					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)	p.D44E(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTTCAGCCTCGTCCAGTGCCT	0.672																																						ENST00000396170.1																			2	Substitution - Missense(2)	p.D44E(2)	lung(2)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(130-132)gaC>gaT		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)		G	,,	2,4396	4.2+/-10.8	0,2,2197	86.0	86.0	86.0		132,132,132	1.8	0.9	11		86	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPN5	NM_001039970.1,NM_006906.1,NM_032781.3	,,	0,2,6490	AA,AG,GG		0.0,0.0455,0.0154	,,	44/534,44/566,44/566	18765712	2,12982	2199	4293	6492	SO:0001819	synonymous_variant	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18765712G>A	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.132C>T	11.37:g.18765712G>A						PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Silent_p.D44D|PTPN5_ENST00000396167.2_Silent_p.D44D|PTPN5_ENST00000396168.1_Silent_p.D20D|PTPN5_ENST00000396171.4_Silent_p.D44D	p.D44D	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			4	1396	-			44					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	ENST00000358540.2	37	c.132C>T	CCDS7845.1																																																																																				0.672	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		60	75	0	0	0	1	0	60	75				
NOXO1	124056	broad.mit.edu	37	16	2030145	2030145	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:2030145A>G	ENST00000397280.4	-	5	457	c.454T>C	c.(454-456)Tct>Cct	p.S152P	NOXO1_ENST00000354249.4_Missense_Mutation_p.S146P|TBL3_ENST00000568546.1_3'UTR|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000356120.4_Missense_Mutation_p.S147P|NOXO1_ENST00000566005.1_Missense_Mutation_p.S151P			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	152					extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	GCAGCGCGAGAAAGAGGCTGC	0.667																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	ENST00000354249.4																			0				lung(2)	2						c.(436-438)Tct>Cct		NADPH oxidase organizer 1							13.0	18.0	16.0					16																	2030145		2188	4292	6480	SO:0001583	missense	0				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity	g.chr16:2030145A>G	AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.454T>C	16.37:g.2030145A>G	ENSP00000380450:p.Ser152Pro					TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_Missense_Mutation_p.S147P|NOXO1_ENST00000397280.4_Missense_Mutation_p.S152P|NOXO1_ENST00000566005.1_Missense_Mutation_p.S151P	p.S146P	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN			5	805	-			152					Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	ENST00000397280.4	37	c.436T>C	CCDS42101.1	.	.	.	.	.	.	.	.	.	.	A	9.969	1.224980	0.22457	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.71103	-0.54;-0.54;-0.54	4.42	-0.766	0.11020	Src homology-3 domain (1);	2.101890	0.01484	N	0.016792	T	0.45013	0.1321	N	0.02315	-0.6	0.09310	N	1	B;B;B;B	0.15141	0.012;0.005;0.005;0.0	B;B;B;B	0.13407	0.009;0.009;0.005;0.0	T	0.32745	-0.9895	10	0.23891	T	0.37	-1.4065	6.7215	0.23332	0.164:0.3965:0.4395:0.0	.	151;146;147;152	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	P	146;147;152	ENSP00000346195:S146P;ENSP00000348435:S147P;ENSP00000380450:S152P	ENSP00000346195:S146P	S	-	1	0	NOXO1	1970146	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.047000	0.14056	-0.340000	0.08388	0.379000	0.24179	TCT		0.667	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1			4	11	0	0	0	1	0	4	11				
VWA3A	146177	broad.mit.edu	37	16	22122275	22122275	+	Missense_Mutation	SNP	G	G	A	rs367686926		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:22122275G>A	ENST00000389398.5	+	8	745	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	217						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACCAATGCCGGGTCCCTCTG	0.552																																						ENST00000389398.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(649-651)Ggg>Agg		von Willebrand factor A domain containing 3A		A	ARG/GLY	0,4152		0,0,2076	65.0	70.0	68.0		649	-0.4	0.0	16		68	1,8453		0,1,4226	no	missense	VWA3A	NM_173615.3	125	0,1,6302	AA,AG,GG		0.0118,0.0,0.0079	benign	217/1185	22122275	1,12605	2076	4227	6303	SO:0001583	missense	146177					extracellular region		g.chr16:22122275G>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.649G>A	16.37:g.22122275G>A	ENSP00000374049:p.Gly217Arg					VWA3A_ENST00000389397.4_5'UTR	p.G217R	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	8	745	+			217					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.649G>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	A	0.960	-0.703428	0.03255	0.0	1.18E-4	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.05447	3.44	5.29	-0.359	0.12571	.	0.449783	0.20590	N	0.089363	T	0.01287	0.0042	N	0.00707	-1.245	0.20821	N	0.999846	B	0.02656	0.0	B	0.04013	0.001	T	0.42172	-0.9467	10	0.10902	T	0.67	.	1.8173	0.03103	0.2476:0.3558:0.0857:0.3108	.	217	A6NCI4	VWA3A_HUMAN	R	117;217	ENSP00000374049:G217R	ENSP00000308827:G117R	G	+	1	0	VWA3A	22029776	0.000000	0.05858	0.004000	0.12327	0.110000	0.19582	0.066000	0.14489	-0.279000	0.09167	-0.516000	0.04426	GGG		0.552	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			5	11	0	0	0	1	0	5	11				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	27	0	0	0	1	0	3	27				
ACACB	32	broad.mit.edu	37	12	109644574	109644574	+	Silent	SNP	A	A	G			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:109644574A>G	ENST00000338432.7	+	20	3092	c.2973A>G	c.(2971-2973)aaA>aaG	p.K991K	ACACB_ENST00000377848.3_Silent_p.K991K|ACACB_ENST00000377854.5_Silent_p.K991K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	991					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCGGAGAGAAACTGCACCAGG	0.522																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2971-2973)aaA>aaG		acetyl-CoA carboxylase beta	Biotin(DB00121)						163.0	157.0	159.0					12																	109644574		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109644574A>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2973A>G	12.37:g.109644574A>G						ACACB_ENST00000377854.5_Silent_p.K991K|ACACB_ENST00000377848.3_Silent_p.K991K	p.K991K			O00763	ACACB_HUMAN			20	3092	+			991					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.2973A>G	CCDS31898.1																																																																																				0.522	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		61	103	0	0	0	1	0	61	103				
TNP1	7141	broad.mit.edu	37	2	217724630	217724630	+	Missense_Mutation	SNP	C	C	T	rs367585957		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:217724630C>T	ENST00000236979.2	-	1	157	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	AC007563.5_ENST00000447289.1_RNA|AC007563.5_ENST00000607591.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	43					chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|fertilization, exchange of chromosomal proteins (GO:0035042)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|sexual reproduction (GO:0019953)|single strand break repair (GO:0000012)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|spermatid nucleus elongation (GO:0007290)	male germ cell nucleus (GO:0001673)|nucleosome (GO:0000786)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCATCGCCCCGTTTCCTACT	0.557																																						ENST00000236979.2																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(127-129)cGg>cAg		transition protein 1 (during histone to protamine replacement)		C	GLN/ARG	0,4406		0,0,2203	219.0	197.0	204.0		128	4.7	0.4	2		204	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNP1	NM_003284.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	43/56	217724630	1,13005	2203	4300	6503	SO:0001583	missense	7141				chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding	g.chr2:217724630C>T		CCDS2406.1	2q35-q36	2008-06-03			ENSG00000118245	ENSG00000118245			11951	protein-coding gene	gene with protein product		190231				2249851	Standard	NM_003284		Approved		uc002vgk.3	P09430	OTTHUMG00000133057	ENST00000236979.2:c.128G>A	2.37:g.217724630C>T	ENSP00000236979:p.Arg43Gln					AC007563.5_ENST00000447289.1_RNA	p.R43Q	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	157	-		Renal(207;0.0822)	43						Missense_Mutation	SNP	ENST00000236979.2	37	c.128G>A	CCDS2406.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575069	0.45902	0.0	1.16E-4	ENSG00000118245	ENST00000236979	.	.	.	5.55	4.68	0.58851	.	0.000000	0.52532	D	0.000080	T	0.56499	0.1989	.	.	.	0.09310	N	1	D	0.76494	0.999	P	0.61533	0.89	T	0.52449	-0.8574	8	0.87932	D	0	-0.9614	10.0586	0.42261	0.0:0.9104:0.0:0.0896	.	43	P09430	STP1_HUMAN	Q	43	.	ENSP00000236979:R43Q	R	-	2	0	TNP1	217432875	0.735000	0.28153	0.409000	0.26459	0.794000	0.44872	1.985000	0.40668	1.586000	0.49944	0.655000	0.94253	CGG		0.557	TNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256673.1	NM_003284		43	87	0	0	0	1	0	43	87				
OR6B3	150681	broad.mit.edu	37	2	240985194	240985194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:240985194G>A	ENST00000319423.4	-	1	295	c.296C>T	c.(295-297)aCg>aTg	p.T99M	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GTAGAGCTGCGTCATGCACCC	0.582																																						ENST00000319423.4																			0				endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18						c.(295-297)aCg>aTg		olfactory receptor, family 6, subfamily B, member 3							24.0	24.0	24.0					2																	240985194		1854	4058	5912	SO:0001583	missense	150681				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240985194G>A		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.296C>T	2.37:g.240985194G>A	ENSP00000322435:p.Thr99Met						p.T99M	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	1	295	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	99					Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	c.296C>T	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923285	0.33908	.	.	ENSG00000178586	ENST00000319423	T	0.01313	5.02	3.96	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.284743	0.24901	N	0.034696	T	0.04048	0.0113	L	0.56124	1.755	0.20563	N	0.999881	D	0.76494	0.999	P	0.62885	0.908	T	0.27673	-1.0067	10	0.54805	T	0.06	.	6.398	0.21622	0.2172:0.0:0.7828:0.0	.	99	Q8NGW1	OR6B3_HUMAN	M	99	ENSP00000322435:T99M	ENSP00000322435:T99M	T	-	2	0	OR6B3	240633867	0.002000	0.14202	0.917000	0.36280	0.977000	0.68977	1.482000	0.35486	1.230000	0.43646	0.505000	0.49811	ACG		0.582	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			23	28	0	0	0	1	0	23	28				
SLC28A2	9153	broad.mit.edu	37	15	45559948	45559948	+	Missense_Mutation	SNP	G	G	A	rs376327143		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr15:45559948G>A	ENST00000347644.3	+	12	1218	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	385			E -> K. {ECO:0000269|PubMed:17700367}.		nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TCCGGAAGTGGAGGAGTCCAA	0.552																																					NSCLC(92;493 1501 26361 28917 47116)	ENST00000347644.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26	GRCh37	CM074558	SLC28A2	M		c.(1153-1155)Gag>Aag		solute carrier family 28 (concentrative nucleoside transporter), member 2							142.0	146.0	145.0					15																	45559948		2198	4298	6496	SO:0001583	missense	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45559948G>A	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1153G>A	15.37:g.45559948G>A	ENSP00000315006:p.Glu385Lys					CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	p.E385K	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	12	1218	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	385		E -> K.			A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	c.1153G>A	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727666	0.48833	.	.	ENSG00000137860	ENST00000347644	T	0.07800	3.16	5.94	2.98	0.34508	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	M	0.78637	2.42	0.54753	D	0.999986	B	0.26512	0.151	B	0.36766	0.232	T	0.01608	-1.1313	10	0.45353	T	0.12	-5.8098	7.9475	0.29995	0.1485:0.1326:0.7188:0.0	.	385	O43868	S28A2_HUMAN	K	385	ENSP00000315006:E385K	ENSP00000315006:E385K	E	+	1	0	SLC28A2	43347240	1.000000	0.71417	0.240000	0.24138	0.389000	0.30415	4.960000	0.63673	0.379000	0.24794	0.561000	0.74099	GAG		0.552	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		59	86	0	0	0	1	0	59	86				
PEX1	5189	broad.mit.edu	37	7	92151417	92151417	+	Splice_Site	SNP	T	T	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:92151417T>C	ENST00000248633.4	-	2	367	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	PEX1_ENST00000438045.1_Splice_Site_p.Q91R|PEX1_ENST00000428214.1_Splice_Site_p.Q91R	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	91					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGTGCTTACCTGTCCCCCATT	0.353																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.e2+1		peroxisomal biogenesis factor 1							144.0	137.0	139.0					7																	92151417		2203	4300	6503	SO:0001630	splice_region_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92151417T>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.273+1A>G	7.37:g.92151417T>C						PEX1_ENST00000438045.1_Splice_Site_p.Q91_splice|PEX1_ENST00000428214.1_Splice_Site_p.Q91_splice	p.Q91_splice	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		2	367	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	91					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Splice_Site	SNP	ENST00000248633.4	37	c.273_splice	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111369	0.77210	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	T;T;T	0.81330	-1.48;-1.48;-1.48	6.03	6.03	0.97812	Aspartate decarboxylase-like fold (2);Peroxisome biogenesis factor 1, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.83275	0.996;0.991	D	0.89160	0.3529	10	0.66056	D	0.02	-13.8831	16.5655	0.84588	0.0:0.0:0.0:1.0	.	91;91	E9PE75;O43933	.;PEX1_HUMAN	R	91	ENSP00000410438:Q91R;ENSP00000248633:Q91R;ENSP00000394413:Q91R	ENSP00000248633:Q91R	Q	-	2	0	PEX1	91989353	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	6.257000	0.72480	2.302000	0.77476	0.533000	0.62120	CAG		0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466	Missense_Mutation	56	244	0	0	0	1	0	56	244				
FAM179A	165186	broad.mit.edu	37	2	29259478	29259478	+	Silent	SNP	C	C	T	rs140272239	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:29259478C>T	ENST00000379558.4	+	18	2841	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	FAM179A_ENST00000403861.2_Silent_p.F775F|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	830										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGAGTCCTTCGCCAAGATGA	0.498													C|||	6	0.00119808	0.0045	0.0	5008	,	,		19796	0.0		0.0	False		,,,				2504	0.0					ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2488-2490)ttC>ttT		family with sequence similarity 179, member A		C		10,4396	16.8+/-37.8	0,10,2193	125.0	105.0	112.0		2490	-8.5	0.0	2	dbSNP_134	112	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FAM179A	NM_199280.2		0,13,6490	TT,TC,CC		0.0349,0.227,0.1		830/1020	29259478	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	165186						binding	g.chr2:29259478C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2490C>T	2.37:g.29259478C>T						FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.F775F	p.F830F	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			18	2841	+			830					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.2490C>T	CCDS1769.2																																																																																				0.498	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		34	52	0	0	0	1	0	34	52				
GALNS	2588	broad.mit.edu	37	16	88889098	88889098	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:88889098C>T	ENST00000268695.5	-	12	1351	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G	GALNS_ENST00000542788.1_Silent_p.G346G	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	421					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		AAACGTTCTGCCCAGGGCAGA	0.617																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(1261-1263)ggG>ggA		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						90.0	76.0	81.0					16																	88889098		2195	4299	6494	SO:0001819	synonymous_variant	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88889098C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1263G>A	16.37:g.88889098C>T						GALNS_ENST00000542788.1_Silent_p.G346G	p.G421G	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	12	1351	-			421					Q86VK3	Silent	SNP	ENST00000268695.5	37	c.1263G>A	CCDS10970.1																																																																																				0.617	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			3	33	0	0	0	1	0	3	33				
PCLO	27445	broad.mit.edu	37	7	82532025	82532025	+	Silent	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:82532025G>A	ENST00000333891.9	-	9	13807	c.13470C>T	c.(13468-13470)taC>taT	p.Y4490Y	PCLO_ENST00000423517.2_Silent_p.Y4490Y	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGAAAGATGTAGTGCATAG	0.299																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13468-13470)taC>taT		piccolo presynaptic cytomatrix protein							196.0	178.0	184.0					7																	82532025		1837	4091	5928	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82532025G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13470C>T	7.37:g.82532025G>A						PCLO_ENST00000333891.8_Silent_p.Y4490Y	p.Y4490Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			9	13807	-			4421						Silent	SNP	ENST00000333891.9	37	c.13470C>T	CCDS47630.1																																																																																				0.299	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		38	116	0	0	0	1	0	38	116				
SLC5A4	6527	broad.mit.edu	37	22	32614591	32614591	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:32614591C>T	ENST00000266086.4	-	15	1901	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	630					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCTCTCAGACGTGTCTGTGA	0.517																																						ENST00000266086.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1888-1890)acG>acA		solute carrier family 5 (glucose activated ion channel), member 4							158.0	116.0	130.0					22																	32614591		2203	4300	6503	SO:0001819	synonymous_variant	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32614591C>T	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1890G>A	22.37:g.32614591C>T						RP1-90G24.10_ENST00000434942.1_RNA	p.T630T	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN			15	1901	-			630					O15279	Silent	SNP	ENST00000266086.4	37	c.1890G>A	CCDS13903.1																																																																																				0.517	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		41	63	0	0	0	1	0	41	63				
KIF1B	23095	broad.mit.edu	37	1	10436617	10436617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:10436617G>A	ENST00000377086.1	+	49	5625	c.5423G>A	c.(5422-5424)cGc>cAc	p.R1808H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R1762H|KIF1B_ENST00000377081.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B	1808					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCTTTCCCGCAGATGCCCG	0.527																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(5422-5424)cGc>cAc		kinesin family member 1B							137.0	140.0	139.0					1																	10436617		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10436617G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.5423G>A	1.37:g.10436617G>A	ENSP00000366290:p.Arg1808His					KIF1B_ENST00000263934.6_Missense_Mutation_p.R1762H|KIF1B_ENST00000377081.1_Intron	p.R1808H			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	49	5625	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1808					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.5423G>A		.	.	.	.	.	.	.	.	.	.	G	24.5	4.533863	0.85812	.	.	ENSG00000054523	ENST00000263934;ENST00000377086	T;T	0.74947	-0.81;-0.89	5.57	3.68	0.42216	.	.	.	.	.	T	0.81814	0.4902	L	0.59436	1.845	0.80722	D	1	D;B	0.89917	1.0;0.01	D;B	0.80764	0.994;0.003	T	0.81600	-0.0859	9	0.87932	D	0	.	10.3328	0.43833	0.0695:0.0:0.7947:0.1359	.	1808;1762	O60333;O60333-2	KIF1B_HUMAN;.	H	1762;1808	ENSP00000263934:R1762H;ENSP00000366290:R1808H	ENSP00000263934:R1762H	R	+	2	0	KIF1B	10359204	1.000000	0.71417	0.998000	0.56505	0.707000	0.40811	5.962000	0.70364	0.686000	0.31488	0.650000	0.86243	CGC		0.527	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			63	108	0	0	0	1	0	63	108				
RORC	6097	broad.mit.edu	37	1	151780081	151780081	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:151780081A>T	ENST00000318247.6	-	11	1531	c.1424T>A	c.(1423-1425)cTg>cAg	p.L475Q	RORC_ENST00000356728.6_Missense_Mutation_p.L454Q|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.L529Q|LINGO4_ENST00000368820.3_5'Flank	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	475	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGCTACACAGGCTCCGAAG	0.557																																						ENST00000356728.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1360-1362)cTg>cAg		RAR-related orphan receptor C							106.0	104.0	105.0					1																	151780081		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151780081A>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1424T>A	1.37:g.151780081A>T	ENSP00000327025:p.Leu475Gln					RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.L529Q|RORC_ENST00000318247.6_Missense_Mutation_p.L475Q	p.L454Q	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		10	1515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		475			Ligand-binding.		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.1361T>A	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723301	0.89298	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.97752	-4.52;-4.52;-4.52	5.4	5.4	0.78164	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.50627	U	0.000118	D	0.98544	0.9514	M	0.85945	2.785	0.48341	D	0.999638	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;1.0	D	0.99843	1.1063	10	0.87932	D	0	.	13.3869	0.60801	1.0:0.0:0.0:0.0	.	463;529;475;454	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	Q	454;529;475	ENSP00000349164:L454Q;ENSP00000376461:L529Q;ENSP00000327025:L475Q	ENSP00000327025:L475Q	L	-	2	0	RORC	150046705	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.926000	0.92839	2.048000	0.60808	0.533000	0.62120	CTG		0.557	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			3	65	0	0	0	1	0	3	65				
GIMAP8	155038	broad.mit.edu	37	7	150171183	150171183	+	Missense_Mutation	SNP	C	C	T	rs576578780		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:150171183C>T	ENST00000307271.3	+	4	1340	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	256	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTGGGGAAACGCGGTGCTGG	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17518	0.0		0.0	False		,,,				2504	0.0					ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(766-768)Cgc>Tgc		GTPase, IMAP family member 8							89.0	89.0	89.0					7																	150171183		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171183C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.766C>T	7.37:g.150171183C>T	ENSP00000305107:p.Arg256Cys						p.R256C	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1340	+			256						Missense_Mutation	SNP	ENST00000307271.3	37	c.766C>T	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040312	0.35989	.	.	ENSG00000171115	ENST00000307271	T	0.61392	0.11	4.47	3.56	0.40772	AIG1 (1);	0.309039	0.23636	N	0.046066	T	0.74574	0.3734	M	0.82630	2.6	0.19300	N	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.65162	-0.6235	10	0.72032	D	0.01	.	9.4363	0.38641	0.2119:0.7881:0.0:0.0	.	256	Q8ND71	GIMA8_HUMAN	C	256	ENSP00000305107:R256C	ENSP00000305107:R256C	R	+	1	0	GIMAP8	149802116	0.005000	0.15991	0.231000	0.23993	0.139000	0.21198	0.617000	0.24359	1.074000	0.40909	0.650000	0.86243	CGC		0.557	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		21	77	0	0	0	1	0	21	77				
AMOTL1	154810	broad.mit.edu	37	11	94533071	94533071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:94533071G>A	ENST00000433060.2	+	3	856	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	AMOTL1_ENST00000317837.9_Missense_Mutation_p.A239T|AMOTL1_ENST00000317829.8_Missense_Mutation_p.A189T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	239					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGTGAACCGTGCCAACAGTGG	0.627																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(715-717)Gcc>Acc		angiomotin like 1							31.0	34.0	33.0					11																	94533071		2091	4219	6310	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533071G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.715G>A	11.37:g.94533071G>A	ENSP00000387739:p.Ala239Thr					AMOTL1_ENST00000317837.9_Missense_Mutation_p.A239T|AMOTL1_ENST00000317829.8_Missense_Mutation_p.A189T	p.A239T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			3	856	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	239					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.715G>A	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432471	0.62844	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.06449	3.3;3.3;3.3	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000002	T	0.18299	0.0439	M	0.67953	2.075	0.44539	D	0.997497	D;P	0.54207	0.965;0.714	P;B	0.53266	0.722;0.177	T	0.00343	-1.1802	9	.	.	.	-21.9526	18.8995	0.92437	0.0:0.0:1.0:0.0	.	189;239	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	T	189;245;239;239	ENSP00000320968:A189T;ENSP00000323474:A239T;ENSP00000387739:A239T	.	A	+	1	0	AMOTL1	94172719	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	3.643000	0.54374	2.472000	0.83506	0.555000	0.69702	GCC		0.627	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		9	22	0	0	0	1	0	9	22				
GLYR1	84656	broad.mit.edu	37	16	4882886	4882886	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:4882886C>T	ENST00000321919.9	-	4	259	c.183G>A	c.(181-183)aaG>aaA	p.K61K	GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Silent_p.K61K|GLYR1_ENST00000591451.1_Silent_p.K61K|GLYR1_ENST00000436648.5_Silent_p.K61K	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	61	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CATGATATGGCTTCAGCTGTT	0.418																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(181-183)aaG>aaA		glyoxylate reductase 1 homolog (Arabidopsis)							126.0	113.0	117.0					16																	4882886		2197	4300	6497	SO:0001819	synonymous_variant	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4882886C>T	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.183G>A	16.37:g.4882886C>T						GLYR1_ENST00000436648.5_Silent_p.K61K|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000591451.1_Silent_p.K61K|GLYR1_ENST00000381983.3_Silent_p.K61K	p.K61K	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN			4	259	-			61			PWWP.		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Silent	SNP	ENST00000321919.9	37	c.183G>A	CCDS10524.1																																																																																				0.418	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		5	108	0	0	0	1	0	5	108				
STRC	161497	broad.mit.edu	37	15	43893668	43893668	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr15:43893668G>T	ENST00000450892.2	-	24	4704	c.4627C>A	c.(4627-4629)Cta>Ata	p.L1543I	STRC_ENST00000541030.1_Missense_Mutation_p.L770I|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1543					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		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)		AGCTCCTGTAGTTCCCGATCT	0.567																																						ENST00000450892.2																			0				skin(4)	4						c.(4627-4629)Cta>Ata		stereocilin							99.0	90.0	93.0					15																	43893668		2200	4297	6497	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43893668G>T	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4627C>A	15.37:g.43893668G>T	ENSP00000401513:p.Leu1543Ile					STRC_ENST00000541030.1_Missense_Mutation_p.L770I	p.L1543I	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	24	4704	-		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)	1543						Missense_Mutation	SNP	ENST00000450892.2	37	c.4627C>A	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523841	0.85600	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	D;D	0.83837	-1.77;-1.6	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000053	D	0.85044	0.5607	L	0.34521	1.04	0.37226	D	0.905485	D;D	0.67145	0.996;0.996	D;D	0.80764	0.938;0.994	T	0.82694	-0.0330	10	0.18710	T	0.47	-5.0064	15.4212	0.75011	0.0:0.0:1.0:0.0	.	770;1543	F5GXA4;Q7RTU9	.;STRC_HUMAN	I	1543;1543;770	ENSP00000401513:L1543I;ENSP00000440413:L770I	ENSP00000299992:L1543I	L	-	1	2	STRC	41680960	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	4.159000	0.58157	2.586000	0.87340	0.556000	0.70494	CTA		0.567	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		39	63	1	0	2.95478e-19	1	3.22753e-19	39	63				
HEY1	23462	broad.mit.edu	37	8	80677812	80677812	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr8:80677812C>T	ENST00000354724.3	-	5	725	c.526G>A	c.(526-528)Gga>Aga	p.G176R	HEY1_ENST00000523976.1_Missense_Mutation_p.G86R|RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000337919.5_Missense_Mutation_p.G180R	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	176					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GGAATGTGTCCGAGGCCCGCG	0.667			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337919.5				Dom	yes		8	8q21	23462	T	hairy/enhancer-of-split related with YRPW motif 1			M	NCOA2		mesenchymal chondrosarcoma	HEY1/NCOA2(10)	0				cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22						c.(538-540)Gga>Aga		hes-related family bHLH transcription factor with YRPW motif 1							35.0	40.0	38.0					8																	80677812		2202	4298	6500	SO:0001583	missense	23462				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr8:80677812C>T	AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.526G>A	8.37:g.80677812C>T	ENSP00000346761:p.Gly176Arg		OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000354724.3_Missense_Mutation_p.G176R|HEY1_ENST00000523976.1_Missense_Mutation_p.G86R	p.G180R	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	Epithelial(68;0.076)|all cancers(69;0.179)		5	731	-	all_lung(9;5.1e-05)		176					B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Missense_Mutation	SNP	ENST00000354724.3	37	c.538G>A	CCDS6225.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184286	0.38609	.	.	ENSG00000164683	ENST00000354724;ENST00000542205;ENST00000337919;ENST00000523976;ENST00000518733	T;T;T;T	0.57752	0.38;0.38;0.98;0.38	4.9	4.9	0.64082	.	0.290655	0.40728	N	0.001030	T	0.51058	0.1652	L	0.47716	1.5	0.58432	D	0.999995	D;B	0.58620	0.983;0.418	P;B	0.46275	0.51;0.109	T	0.44390	-0.9331	10	0.17369	T	0.5	-18.3718	18.2584	0.90025	0.0:1.0:0.0:0.0	.	176;180	Q9Y5J3;Q9Y5J3-2	HEY1_HUMAN;.	R	176;180;180;86;138	ENSP00000346761:G176R;ENSP00000338272:G180R;ENSP00000429792:G86R;ENSP00000429705:G138R	ENSP00000338272:G180R	G	-	1	0	HEY1	80840367	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.403000	0.52615	2.544000	0.85801	0.561000	0.74099	GGA		0.667	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		21	41	0	0	0	1	0	21	41				
PMS2CL	441194	broad.mit.edu	37	7	6785797	6785797	+	RNA	SNP	C	C	T	rs141880038		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:6785797C>T	ENST00000486256.1	+	0	1941					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		AGAATGGCTTCGATTTTGTTA	0.398																																						ENST00000486256.1																			0																																																			0							g.chr7:6785797C>T	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6785797C>T								NR_002217.1						0	1941	+								B4DK88|Q764P1	RNA	SNP	ENST00000486256.1	37																																																																																						0.398	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		5	42	0	0	0	1	0	5	42				
SLCO1B1	10599	broad.mit.edu	37	12	21331948	21331948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:21331948G>A	ENST00000256958.2	+	7	817	c.721G>A	c.(721-723)Gat>Aat	p.D241N		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	241			D -> N. {ECO:0000269|PubMed:10358072, ECO:0000269|PubMed:11477075, ECO:0000269|PubMed:12130747}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGGATATGTAGATCTAAGTAA	0.338																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(721-723)Gat>Aat		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						101.0	101.0	101.0					12																	21331948		2203	4298	6501	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21331948G>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.721G>A	12.37:g.21331948G>A	ENSP00000256958:p.Asp241Asn						p.D241N	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			7	817	+			241		D -> N.			B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.721G>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525128	0.27299	.	.	ENSG00000134538	ENST00000256958	T	0.39592	1.07	3.76	3.76	0.43208	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.049308	0.85682	D	0.000000	T	0.47266	0.1436	L	0.46157	1.445	0.41933	D	0.990574	P	0.34934	0.476	P	0.47786	0.557	T	0.34502	-0.9826	10	0.15499	T	0.54	.	16.1164	0.81306	0.0:0.0:1.0:0.0	.	241	Q9Y6L6	SO1B1_HUMAN	N	241	ENSP00000256958:D241N	ENSP00000256958:D241N	D	+	1	0	SLCO1B1	21223215	0.922000	0.31269	0.997000	0.53966	0.320000	0.28249	1.268000	0.33062	2.096000	0.63516	0.305000	0.20034	GAT		0.338	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		53	72	0	0	0	1	0	53	72				
HRNR	388697	broad.mit.edu	37	1	152187734	152187734	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:152187734C>A	ENST00000368801.2	-	3	6446	c.6371G>T	c.(6370-6372)gGg>gTg	p.G2124V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2124					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCAGACCCATGCTGACT	0.562																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6370-6372)gGg>gTg		hornerin							5.0	3.0	4.0					1																	152187734		1493	2967	4460	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187734C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6371G>T	1.37:g.152187734C>A	ENSP00000357791:p.Gly2124Val					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2124V	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6446	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2124					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6371G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.829	0.337208	0.11013	.	.	ENSG00000197915	ENST00000368801	T	0.02498	4.27	3.93	-0.64	0.11493	.	.	.	.	.	T	0.03520	0.0101	L	0.50333	1.59	0.09310	N	0.999993	D	0.69078	0.997	D	0.63597	0.916	T	0.34800	-0.9814	9	0.54805	T	0.06	.	11.324	0.49438	0.0:0.8544:0.0:0.1456	.	2124	Q86YZ3	HORN_HUMAN	V	2124	ENSP00000357791:G2124V	ENSP00000357791:G2124V	G	-	2	0	HRNR	150454358	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.842000	0.04354	-0.049000	0.13379	0.603000	0.83216	GGG		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		50	651	1	0	2.6711e-34	1	3.01029e-34	50	651				
VTA1	51534	broad.mit.edu	37	6	142519682	142519682	+	Silent	SNP	T	T	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:142519682T>C	ENST00000367630.4	+	6	685	c.627T>C	c.(625-627)taT>taC	p.Y209Y	VTA1_ENST00000367621.1_Silent_p.Y151Y|VTA1_ENST00000452973.2_Silent_p.Y151Y|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	209	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAGGCAACTATACTGGAATAC	0.473																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(625-627)taT>taC		vesicle (multivesicular body) trafficking 1							99.0	86.0	90.0					6																	142519682		2203	4300	6503	SO:0001819	synonymous_variant	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142519682T>C	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.627T>C	6.37:g.142519682T>C						VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000367621.1_Silent_p.Y151Y|VTA1_ENST00000452973.2_Silent_p.Y151Y	p.Y209Y	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	6	685	+	Breast(32;0.155)		209			Interaction with VPS4B (By similarity).		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Silent	SNP	ENST00000367630.4	37	c.627T>C	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	T	7.557	0.663864	0.14710	.	.	ENSG00000009844	ENST00000427932	.	.	.	5.63	-5.26	0.02772	.	0.233294	0.44483	D	0.000441	T	0.40247	0.1109	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.58059	-0.7703	6	0.59425	D	0.04	-1.7945	19.2995	0.94138	0.0:0.7902:0.0:0.2098	.	.	.	.	H	208	.	ENSP00000389609:Y208H	Y	+	1	0	VTA1	142561375	0.113000	0.22115	0.000000	0.03702	0.858000	0.48976	-0.198000	0.09505	-1.055000	0.03209	-0.263000	0.10527	TAC		0.473	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		22	35	0	0	0	1	0	22	35				
CIT	11113	broad.mit.edu	37	12	120152022	120152022	+	Missense_Mutation	SNP	C	C	T	rs140614337	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:120152022C>T	ENST00000261833.7	-	32	4212	c.4160G>A	c.(4159-4161)cGc>cAc	p.R1387H	CIT_ENST00000537607.1_5'UTR|MIR1178_ENST00000408396.1_RNA|CIT_ENST00000392521.2_Missense_Mutation_p.R1429H	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1387					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGATGCCTGGCGTCCAAAGTG	0.488																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(4285-4287)cGc>cAc		citron (rho-interacting, serine/threonine kinase 21)		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	197.0	144.0	162.0		4286,4160	5.9	1.0	12	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CIT	NM_001206999.1,NM_007174.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1429/2070,1387/2028	120152022	1,13005	2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120152022C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4160G>A	12.37:g.120152022C>T	ENSP00000261833:p.Arg1387His					CIT_ENST00000261833.7_Missense_Mutation_p.R1387H|CIT_ENST00000537607.1_5'UTR	p.R1429H	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	33	4341	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1387					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.4286G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.909388|5.909388	0.97093|0.97093	0.0|0.0	1.16E-4|1.16E-4	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|D;D	.|0.84730	.|-1.89;-1.89	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91520|0.91520	0.7322|0.7322	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.78314	.|0.991;0.991;0.991	D|D	0.91085|0.91085	0.4902|0.4902	5|10	.|0.62326	.|D	.|0.03	.|.	20.2963|20.2963	0.98556|0.98556	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1429;1387;905	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|H	1000|1429;1387	.|ENSP00000376306:R1429H;ENSP00000261833:R1387H	.|ENSP00000261833:R1387H	A|R	-|-	1|2	0|0	CIT|CIT	118636405|118636405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.610000|7.610000	0.82949|0.82949	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.488	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		25	30	0	0	0	1	0	25	30				
BPIFB2	80341	broad.mit.edu	37	20	31606096	31606096	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr20:31606096C>T	ENST00000170150.3	+	8	804	c.609C>T	c.(607-609)atC>atT	p.I203I		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	203						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										AGTCCCAGATCCGCTATTCCA	0.532																																						ENST00000170150.3																			0											c.(607-609)atC>atT		BPI fold containing family B, member 2							116.0	103.0	108.0					20																	31606096		2203	4300	6503	SO:0001819	synonymous_variant	80341					extracellular region	lipid binding	g.chr20:31606096C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.609C>T	20.37:g.31606096C>T							p.I203I	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			8	804	+			203					Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	ENST00000170150.3	37	c.609C>T	CCDS13210.1																																																																																				0.532	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		11	57	0	0	0	1	0	11	57				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	65	0	0	0	1	0	3	65				
DLK1	8788	broad.mit.edu	37	14	101201221	101201221	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr14:101201221C>T	ENST00000341267.4	+	5	1382	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	DLK1_ENST00000331224.6_Silent_p.D307D|RP11-566J3.4_ENST00000608876.1_lincRNA	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	380					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.D380D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGCCGGCGACGAGGAGATCT	0.547																																						ENST00000341267.4																			1	Substitution - coding silent(1)	p.D380D(1)	ovary(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(1138-1140)gaC>gaT		delta-like 1 homolog (Drosophila)							85.0	86.0	86.0					14																	101201221		2203	4300	6503	SO:0001819	synonymous_variant	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101201221C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.1140C>T	14.37:g.101201221C>T						DLK1_ENST00000331224.6_Silent_p.D307D	p.D380D	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	1382	+		Melanoma(154;0.155)	380					P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	c.1140C>T	CCDS9963.1																																																																																				0.547	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			23	51	0	0	0	1	0	23	51				
CD1E	913	broad.mit.edu	37	1	158324331	158324331	+	Missense_Mutation	SNP	C	C	T	rs200189250		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:158324331C>T	ENST00000368167.3	+	2	462	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R75C|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.R75C|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.R75C|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.R75C|CD1E_ENST00000434258.1_Missense_Mutation_p.R73C|CD1E_ENST00000368165.3_Missense_Mutation_p.R75C|CD1E_ENST00000368163.3_Missense_Mutation_p.R75C	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	75					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGGCACCATCCGCTTTCTGAA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18184	0.0		0.0	False		,,,				2504	0.001					ENST00000368160.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(223-225)Cgc>Tgc		CD1e molecule		C	CYS/ARG,CYS/ARG,CYS/ARG,,,CYS/ARG,CYS/ARG,,,,,CYS/ARG,CYS/ARG	0,4326		0,0,2163	60.0	64.0	63.0		223,223,223,,,223,223,,,,,223,223	-3.4	0.0	1		63	1,8583		0,1,4291	no	missense,missense,missense,intron,intron,missense,missense,intron,intron,intron,intron,missense,missense	CD1E	NM_001042583.2,NM_001042584.2,NM_001042585.2,NM_001042586.2,NM_001042587.2,NM_001185107.1,NM_001185108.1,NM_001185110.1,NM_001185112.1,NM_001185113.1,NM_001185114.1,NM_001185115.1,NM_030893.3	180,180,180,,,180,180,,,,,180,180	0,1,6454	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,,,probably-damaging,probably-damaging,,,,,probably-damaging,probably-damaging	75/377,75/291,75/322,,,75/299,75/232,,,,,75/287,75/389	158324331	1,12909	2163	4292	6455	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158324331C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.223C>T	1.37:g.158324331C>T	ENSP00000357149:p.Arg75Cys					CD1E_ENST00000368167.3_Missense_Mutation_p.R75C|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R75C|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.R75C|CD1E_ENST00000368165.3_Missense_Mutation_p.R75C|CD1E_ENST00000434258.1_Missense_Mutation_p.R73C|CD1E_ENST00000368163.3_Missense_Mutation_p.R75C|CD1E_ENST00000368155.3_Missense_Mutation_p.R75C|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000444681.2_Intron	p.R75C	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN			2	223	+	all_hematologic(112;0.0378)		75					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.223C>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214146	0.39102	0.0	1.16E-4	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	T;T;T;T;T;T;T;T	0.18016	2.24;2.24;3.41;2.24;2.24;2.24;3.6;3.54	3.8	-3.36	0.04913	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.508110	0.04212	N	0.331903	T	0.13543	0.0328	M	0.73217	2.22	0.09310	N	1	D;B;B;D;D;D;P;D	0.89917	0.996;0.01;0.01;0.995;0.999;1.0;0.921;0.998	P;B;B;P;P;P;B;P	0.60117	0.677;0.002;0.002;0.781;0.677;0.828;0.198;0.869	T	0.12502	-1.0545	10	0.38643	T	0.18	0.1701	1.0347	0.01546	0.4169:0.2569:0.1396:0.1866	.	73;75;75;75;75;75;75;75	E7ET31;P15812-5;P15812-7;P15812-2;P15812;P15812-3;P15812-6;P15812-4	.;.;.;.;CD1E_HUMAN;.;.;.	C	73;75;75;75;75;75;75;75	ENSP00000401957:R73C;ENSP00000357149:R75C;ENSP00000357147:R75C;ENSP00000357145:R75C;ENSP00000357142:R75C;ENSP00000357143:R75C;ENSP00000357138:R75C;ENSP00000357137:R75C	ENSP00000357137:R75C	R	+	1	0	CD1E	156590955	0.000000	0.05858	0.000000	0.03702	0.733000	0.41908	-1.235000	0.02928	-0.688000	0.05155	0.563000	0.77884	CGC		0.512	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		20	38	0	0	0	1	0	20	38				
OR11L1	391189	broad.mit.edu	37	1	248005188	248005188	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:248005188T>C	ENST00000355784.2	-	1	66	c.11A>G	c.(10-12)cAa>cGa	p.Q4R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	4						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGGTATTTTGGGGCTCCAT	0.458																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(10-12)cAa>cGa		olfactory receptor, family 11, subfamily L, member 1							61.0	58.0	59.0					1																	248005188		2195	4282	6477	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248005188T>C	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.11A>G	1.37:g.248005188T>C	ENSP00000348033:p.Gln4Arg						p.Q4R	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	66	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		4						Missense_Mutation	SNP	ENST00000355784.2	37	c.11A>G	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	T	4.662	0.123115	0.08931	.	.	ENSG00000197591	ENST00000355784	T	0.19532	2.14	3.99	-7.99	0.01131	.	1.259340	0.06158	U	0.675376	T	0.06005	0.0156	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31420	-0.9944	10	0.13853	T	0.58	.	3.6323	0.08137	0.1972:0.072:0.4569:0.274	.	4	Q8NGX0	O11L1_HUMAN	R	4	ENSP00000348033:Q4R	ENSP00000348033:Q4R	Q	-	2	0	OR11L1	246071811	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.451000	0.02387	-1.604000	0.01595	0.438000	0.28831	CAA		0.458	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		14	30	0	0	0	1	0	14	30				
EGFR	1956	broad.mit.edu	37	7	55221783	55221783	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:55221783A>T	ENST00000275493.2	+	7	1004	c.827A>T	c.(826-828)cAg>cTg	p.Q276L	EGFR_ENST00000442591.1_Missense_Mutation_p.Q276L|EGFR_ENST00000342916.3_Missense_Mutation_p.Q276L|EGFR_ENST00000455089.1_Missense_Mutation_p.Q231L|EGFR_ENST00000344576.2_Missense_Mutation_p.Q276L|EGFR_ENST00000454757.2_Missense_Mutation_p.Q223L|EGFR_ENST00000420316.2_Missense_Mutation_p.Q276L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	276			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ACCACGTACCAGATGGATGTG	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(826-828)cAg>cTg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						193.0	153.0	167.0					7																	55221783		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221783A>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.827A>T	7.37:g.55221783A>T	ENSP00000275493:p.Gln276Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000420316.2_Missense_Mutation_p.Q276L|EGFR_ENST00000342916.3_Missense_Mutation_p.Q276L|EGFR_ENST00000344576.2_Missense_Mutation_p.Q276L|EGFR_ENST00000442591.1_Missense_Mutation_p.Q276L|EGFR_ENST00000454757.2_Missense_Mutation_p.Q223L|EGFR_ENST00000455089.1_Missense_Mutation_p.Q231L	p.Q276L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1004	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		276					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.827A>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647336	0.87958	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.107102	0.64402	D	0.000004	T	0.79070	0.4384	M	0.83603	2.65	0.80722	D	1	P;P;D;D;B	0.69078	0.9;0.794;0.997;0.992;0.101	P;P;P;P;B	0.62184	0.637;0.604;0.899;0.789;0.091	T	0.82500	-0.0426	10	0.87932	D	0	.	15.2191	0.73296	1.0:0.0:0.0:0.0	.	231;276;276;276;276	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	L	231;276;146;276;276;276;276;223;70	ENSP00000415559:Q231L;ENSP00000342376:Q276L;ENSP00000345973:Q276L;ENSP00000413843:Q276L;ENSP00000275493:Q276L;ENSP00000410031:Q276L;ENSP00000395243:Q223L	ENSP00000275493:Q276L	Q	+	2	0	EGFR	55189277	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.049000	0.71053	2.272000	0.75746	0.460000	0.39030	CAG		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		2308	76	0	0	0	1	0	2308	76				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		6	24	0	0	0	1	0	6	24				
PLCG2	5336	broad.mit.edu	37	16	81957132	81957132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:81957132C>T	ENST00000359376.3	+	22	2564	c.2350C>T	c.(2350-2352)Cga>Tga	p.R784*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	784	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAAAGCCAAGCGAAGCGATGA	0.592																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2350-2352)Cga>Tga		phospholipase C, gamma 2 (phosphatidylinositol-specific)							67.0	68.0	68.0					16																	81957132		1938	4133	6071	SO:0001587	stop_gained	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81957132C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2350C>T	16.37:g.81957132C>T	ENSP00000352336:p.Arg784*						p.R784*	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			22	2564	+			784			SH3.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Nonsense_Mutation	SNP	ENST00000359376.3	37	c.2350C>T	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	41	8.922369	0.99004	.	.	ENSG00000197943	ENST00000359376	.	.	.	5.48	3.45	0.39498	.	0.493204	0.22942	N	0.053778	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.686	0.69049	0.5588:0.4412:0.0:0.0	.	.	.	.	X	784	.	ENSP00000352336:R784X	R	+	1	2	PLCG2	80514633	0.938000	0.31826	0.593000	0.28771	0.647000	0.38526	0.891000	0.28309	0.622000	0.30249	-0.251000	0.11542	CGA		0.592	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			9	16	0	0	0	1	0	9	16				
GNAT1	2779	broad.mit.edu	37	3	50229245	50229245	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr3:50229245C>T	ENST00000433068.1	+	1	143	c.87C>T	c.(85-87)acC>acT	p.T29T	GNAT1_ENST00000232461.3_Silent_p.T29T	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	29					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATGCTCGAACCGTGAAGCTGC	0.622																																						ENST00000232461.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(85-87)acC>acT		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1							81.0	81.0	81.0					3																	50229245		2202	4300	6502	SO:0001819	synonymous_variant	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50229245C>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.87C>T	3.37:g.50229245C>T						GNAT1_ENST00000433068.1_Silent_p.T29T	p.T29T	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	201	+			29					Q4VBN2	Silent	SNP	ENST00000433068.1	37	c.87C>T	CCDS2812.1																																																																																				0.622	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		12	25	0	0	0	1	0	12	25				
IGHV3-20	28445	broad.mit.edu	37	14	106667814	106667814	+	RNA	SNP	A	A	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr14:106667814A>T	ENST00000390606.2	-	0	179				AB019440.50_ENST00000605005.1_lincRNA					immunoglobulin heavy variable 3-20																		GCTGCACAGGAGAGTCTCAGG	0.572																																						ENST00000390606.2																			0																				90.0	84.0	86.0					14																	106667814		1878	4100	5978			0							g.chr14:106667814A>T	M99657		14q32.33	2012-02-08			ENSG00000211946	ENSG00000211946		"""Immunoglobulins / IGH locus"""	5585	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152285		14.37:g.106667814A>T														0	179	-									RNA	SNP	ENST00000390606.2	37																																																																																						0.572	IGHV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325673.1	NG_001019		59	114	0	0	0	1	0	59	114				
ESCO1	114799	broad.mit.edu	37	18	19112440	19112440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr18:19112440C>T	ENST00000269214.5	-	11	3306	c.2369G>A	c.(2368-2370)tGc>tAc	p.C790Y		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	790					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTACCTTAGGCATTCAATCAT	0.393																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2368-2370)tGc>tAc		establishment of sister chromatid cohesion N-acetyltransferase 1							106.0	99.0	101.0					18																	19112440		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19112440C>T	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2369G>A	18.37:g.19112440C>T	ENSP00000269214:p.Cys790Tyr						p.C790Y	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			11	3306	-			790					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.2369G>A	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893166	0.91889	.	.	ENSG00000141446	ENST00000269214	D	0.82893	-1.66	5.57	5.57	0.84162	.	0.110335	0.64402	D	0.000006	D	0.91553	0.7332	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91658	0.5340	10	0.59425	D	0.04	-21.6765	19.5519	0.95324	0.0:1.0:0.0:0.0	.	790	Q5FWF5	ESCO1_HUMAN	Y	790	ENSP00000269214:C790Y	ENSP00000269214:C790Y	C	-	2	0	ESCO1	17366438	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.087000	0.71362	2.623000	0.88846	0.467000	0.42956	TGC		0.393	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		27	47	0	0	0	1	0	27	47				
REEP2	51308	broad.mit.edu	37	5	137781255	137781255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr5:137781255G>A	ENST00000254901.5	+	7	780	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	REEP2_ENST00000378339.2_Missense_Mutation_p.A222T|REEP2_ENST00000506158.1_Missense_Mutation_p.A182T	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	220					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCAAGAGGGCCAAACCCAT	0.597																																						ENST00000378339.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(664-666)Gcc>Acc		receptor accessory protein 2							55.0	60.0	58.0					5																	137781255		2203	4300	6503	SO:0001583	missense	51308					integral to membrane		g.chr5:137781255G>A	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.658G>A	5.37:g.137781255G>A	ENSP00000254901:p.Ala220Thr					REEP2_ENST00000254901.5_Missense_Mutation_p.A220T|REEP2_ENST00000506158.1_Missense_Mutation_p.A182T	p.A222T	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		7	856	+			220					Q53EM8|Q9NYF2	Missense_Mutation	SNP	ENST00000254901.5	37	c.664G>A	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589247	0.28357	.	.	ENSG00000132563	ENST00000378339;ENST00000254901;ENST00000506158	D;D;T	0.86694	-2.15;-2.16;-1.31	5.32	1.27	0.21489	.	1.000290	0.08068	N	0.999377	T	0.62060	0.2397	N	0.01109	-1.01	0.20196	N	0.999925	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53767	-0.8392	10	0.12766	T	0.61	-2.7846	4.4008	0.11385	0.2654:0.3194:0.4152:0.0	.	222;220	A8K3D2;Q9BRK0	.;REEP2_HUMAN	T	222;220;182	ENSP00000367590:A222T;ENSP00000254901:A220T;ENSP00000422530:A182T	ENSP00000254901:A220T	A	+	1	0	REEP2	137809154	1.000000	0.71417	0.971000	0.41717	0.854000	0.48673	2.431000	0.44775	0.228000	0.21019	0.655000	0.94253	GCC		0.597	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		3	42	0	0	0	1	0	3	42				
SSTR3	6753	broad.mit.edu	37	22	37603624	37603624	+	Silent	SNP	C	C	T	rs550210765	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:37603624C>T	ENST00000328544.3	-	2	752	c.219G>A	c.(217-219)acG>acA	p.T73T	SSTR3_ENST00000402501.1_Silent_p.T73T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	73					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.T73T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	AAGGGCTGGCCGTGTGCCGCA	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		17941	0.0		0.0	False		,,,				2504	0.002					ENST00000328544.3																			1	Substitution - coding silent(1)	p.T73T(1)	large_intestine(1)	NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(217-219)acG>acA		somatostatin receptor 3							83.0	78.0	79.0					22																	37603624		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603624C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.219G>A	22.37:g.37603624C>T						SSTR3_ENST00000402501.1_Silent_p.T73T	p.T73T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	752	-			73					A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	c.219G>A	CCDS13944.1																																																																																				0.642	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			72	70	0	0	0	1	0	72	70				
RPS6KA1	6195	broad.mit.edu	37	1	26888117	26888117	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:26888117delC	ENST00000374168.2	+	17	1707	c.1553delC	c.(1552-1554)accfs	p.T518fs	RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.T527fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.T507fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.T426fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.T426fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.T502fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	518	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTCCTGCACACCATTGGCAAA	0.567																																						ENST00000374168.2																			0				lung(1)	1						c.(1552-1554)acfs		ribosomal protein S6 kinase, 90kDa, polypeptide 1							125.0	115.0	119.0					1																	26888117		2203	4300	6503	SO:0001589	frameshift_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26888117delC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1553delC	1.37:g.26888117delC	ENSP00000363283:p.Thr518fs					RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.T507fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.T426fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.T527fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.T502fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.T426fs	p.T518fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	17	1707	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	518			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Del	DEL	ENST00000374168.2	37	c.1553delC	CCDS284.1																																																																																				0.567	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		27	61						27	61	---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203819140	203819140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:203819140delA	ENST00000545588.1	+	14	5752	c.1925delA	c.(1924-1926)gaafs	p.E642fs	ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	642					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGACCTTGGAAAAAAGGGGT	0.418																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1924-1926)gafs		zinc finger CCCH-type containing 11A							55.0	54.0	54.0					1																	203819140		2203	4300	6503	SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819140delA		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1925delA	1.37:g.203819140delA	ENSP00000438527:p.Glu642fs					ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs	p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	5752	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		642					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Del	DEL	ENST00000545588.1	37	c.1925delA	CCDS30978.1																																																																																				0.418	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		9	2129						9	2129	---	---	---	---
SOX13	9580	broad.mit.edu	37	1	204085764	204085766	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:204085764_204085766delAGC	ENST00000367204.1	+	5	657_659	c.548_550delAGC	c.(547-552)aagcag>aag	p.Q187del	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	187	Gln-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGTTTGAGAAGCAGCAGCAGCA	0.576																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(547-552)aag>a		SRY (sex determining region Y)-box 13																																				SO:0001651	inframe_deletion	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204085764_204085766delAGC		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.548_550delAGC	1.37:g.204085773_204085775delAGC	ENSP00000356172:p.Gln187del					SOX13_ENST00000367203.4_3'UTR	p.KQ183del	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	657_659	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		183					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	In_Frame_Del	DEL	ENST00000367204.1	37	c.548_550delAGC	CCDS44299.1																																																																																				0.576	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		12	2107						12	2107	---	---	---	---
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309|rs121917743		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:204135375_204135377delAGC	ENST00000272190.8	-	1	73_75	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000367195.2_In_Frame_Del_p.15_16LL>L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	15			L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion). {ECO:0000269|PubMed:19664745}.		angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(43-48)ctc>ct		renin	Aliskiren(DB01258)|Remikiren(DB00212)																																			SO:0001651	inframe_deletion	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204135375_204135377delAGC	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.45_47delGCT	1.37:g.204135384_204135386delAGC	ENSP00000272190:p.Leu16del					REN_ENST00000272190.8_In_Frame_Del_p.LL15del	p.LL15del			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		1	88_90	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		15					Q6FI38|Q6T5C2	In_Frame_Del	DEL	ENST00000272190.8	37	c.45_47delGCT	CCDS30981.1																																																																																				0.581	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		18	2105						18	2105	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(163-168)gggcgg>ggGGCgcgg		POU class 4 homeobox 2																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup					AC093887.1_ENST00000584185.1_RNA	p.55_56GR>GAR	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		55			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		3	5						3	5	---	---	---	---
SOBP	55084	broad.mit.edu	37	6	107955460	107955461	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:107955460_107955461insC	ENST00000317357.5	+	6	2071_2072	c.1412_1413insC	c.(1411-1416)aaccccfs	p.NP471fs		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ATGCCCGGGAACCCCCCAGGCC	0.733																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(1411-1413)accfs		sine oculis binding protein homolog (Drosophila)																																				SO:0001589	frameshift_variant	55084						metal ion binding	g.chr6:107955460_107955461insC	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1418dupC	6.37:g.107955466_107955466dupC	ENSP00000318900:p.Asn471fs						p.T471fs	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2071_2072	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	471			Pro-rich.			Frame_Shift_Ins	INS	ENST00000317357.5	37	c.1412_1413insC	CCDS43488.1																																																																																				0.733	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		2	4						2	4	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-	rs376935907		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:65150816delA	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCC	0.463																																						ENST00000430126.2																			0																																																			0							g.chr7:65150816delA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150816delA														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.463	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		7	14						7	14	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	145						7	145	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906584	35906586	+	In_Frame_Del	DEL	CCA	CCA	-	rs143611048	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr9:35906584_35906586delCCA	ENST00000354323.2	+	1	396_398	c.300_302delCCA	c.(298-303)ctccac>ctc	p.H105del	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						ctcaccacctccaccaccaccac	0.66														929	0.185503	0.1619	0.1268	5008	,	,		6334	0.3085		0.1213	False		,,,				2504	0.1984					ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(298-303)ctc>ct		histidine rich carboxyl terminus 1																																				SO:0001651	inframe_deletion	646962					integral to membrane		g.chr9:35906584_35906586delCCA		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.300_302delCCA	9.37:g.35906593_35906595delCCA	ENSP00000346283:p.His105del						p.LH100del	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	396_398	+			100			His-rich.		B7ZBJ1	In_Frame_Del	DEL	ENST00000354323.2	37	c.300_302delCCA	CCDS35012.1																																																																																				0.660	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		5	11						5	11	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-	rs569592353|rs373441912	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													|||unknown(STR2?)	915	0.182708	0.2443	0.1686	5008	,	,		35626	0.1429		0.1511	False		,,,				2504	0.183					ENST00000548261.1																			0																																																			0							g.chr14:20086237delT																													14.37:g.20086237delT														0	51	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			4	6						4	6	---	---	---	---
PICK1	9463	broad.mit.edu	37	22	38471034	38471036	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:38471034_38471036delGGA	ENST00000404072.3	+	13	1490_1492	c.1143_1145delGGA	c.(1141-1146)ggggag>ggg	p.E388del	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_In_Frame_Del_p.E388del	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	388	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TCACAGATGGggaggaggaggag	0.635																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1141-1146)ggg>gg		protein interacting with PRKCA 1																																				SO:0001651	inframe_deletion	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38471034_38471036delGGA	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.1143_1145delGGA	22.37:g.38471043_38471045delGGA	ENSP00000385205:p.Glu388del					PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del	p.GE381del	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			13	1490_1492	+	Melanoma(58;0.045)		381					B3KS52|O95906	In_Frame_Del	DEL	ENST00000404072.3	37	c.1143_1145delGGA	CCDS13965.1																																																																																				0.635	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		7	43						7	43	---	---	---	---
