#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
PER2	8864	broad.mit.edu	37	2	239186523	239186523	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr2:239186523C>A	ENST00000254657.3	-	2	334	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	PER2_ENST00000440245.1_Missense_Mutation_p.V19L|PER2_ENST00000355768.2_Missense_Mutation_p.V19L|PER2_ENST00000254658.3_Missense_Mutation_p.V19L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	19					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGGGCTCCACGGGCTCCTTG	0.612																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(55-57)Gtg>Ttg		period circadian clock 2							47.0	49.0	48.0					2																	239186523		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239186523C>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.55G>T	2.37:g.239186523C>A	ENSP00000254657:p.Val19Leu					PER2_ENST00000254658.3_Missense_Mutation_p.V19L|PER2_ENST00000355768.2_Missense_Mutation_p.V19L|PER2_ENST00000440245.1_Missense_Mutation_p.V19L	p.V19L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	2	334	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	19					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.55G>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	0.493	-0.874511	0.02550	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832	T;T;T;T;T	0.43294	2.9;0.95;1.98;0.95;0.95	4.86	-9.73	0.00512	.	1.410840	0.04426	N	0.368353	T	0.24812	0.0602	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.001;0.0	T	0.20338	-1.0278	10	0.07813	T	0.8	0.1016	9.4303	0.38606	0.0:0.3399:0.4303:0.2298	.	19;19;19;19	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	L	19	ENSP00000254657:V19L;ENSP00000254658:V19L;ENSP00000397516:V19L;ENSP00000348013:V19L;ENSP00000405891:V19L	ENSP00000254657:V19L	V	-	1	0	PER2	238851262	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.949000	0.03893	-1.959000	0.01018	-1.391000	0.01154	GTG		0.612	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		3	27	1	0	6.4e-05	1	7.168e-05	3	27				
GLTSCR1L	23506	broad.mit.edu	37	6	42832767	42832767	+	Silent	SNP	G	G	T			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr6:42832767G>T	ENST00000314073.5	+	13	2999	c.2823G>T	c.(2821-2823)cgG>cgT	p.R941R	GLTSCR1L_ENST00000394168.1_Silent_p.R941R			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	941																	AGGGGCACCGGAAAACCTCAT	0.547																																						ENST00000314073.5																			0											c.(2821-2823)cgG>cgT		GLTSCR1-like							62.0	63.0	63.0					6																	42832767		2203	4300	6503	SO:0001819	synonymous_variant	23506							g.chr6:42832767G>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2823G>T	6.37:g.42832767G>T						GLTSCR1L_ENST00000394168.1_Silent_p.R941R	p.R941R							13	2999	+								A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	c.2823G>T	CCDS34451.1																																																																																				0.547	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		3	34	1	0	0.00024832	1	0.000257517	3	34				
SLC22A2	6582	broad.mit.edu	37	6	160645781	160645781	+	Silent	SNP	C	C	T			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr6:160645781C>T	ENST00000366953.3	-	10	1815	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	519					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GCAAAGCTTTCCCTTTAGTTT	0.418																																						ENST00000366953.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(1555-1557)ggG>ggA		solute carrier family 22 (organic cation transporter), member 2							121.0	122.0	122.0					6																	160645781		2203	4300	6503	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160645781C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1557G>A	6.37:g.160645781C>T						SLC22A2_ENST00000491092.1_5'UTR	p.G519G	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	10	1815	-		Breast(66;0.000776)|Ovarian(120;0.0303)	519					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.1557G>A	CCDS5276.1																																																																																				0.418	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		23	70	0	0	0	1	0	23	70				
FRG1B	284802	broad.mit.edu	37	20	29623239	29623239	+	Silent	SNP	G	G	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr20:29623239G>A	ENST00000278882.3	+	3	431	c.51G>A	c.(49-51)gaG>gaA	p.E17E	FRG1B_ENST00000439954.2_Missense_Mutation_p.A19T|FRG1B_ENST00000358464.4_Silent_p.E17E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	17										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TACCCTGGGAGCTCCACACAA	0.408																																						ENST00000439954.2																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(55-57)Gct>Act																																						SO:0001819	synonymous_variant	284802							g.chr20:29623239G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.51G>A	20.37:g.29623239G>A						FRG1B_ENST00000358464.4_Silent_p.E17E|FRG1B_ENST00000278882.3_Silent_p.E17E	p.A19T							3	401	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.55G>A		.	.	.	.	.	.	.	.	.	.	g	10.66	1.411523	0.25465	.	.	ENSG00000149531	ENST00000439954	T	0.48522	0.81	1.93	1.93	0.25924	.	.	.	.	.	T	0.52419	0.1733	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53851	-0.8380	6	0.46703	T	0.11	.	9.8943	0.41309	0.0:0.0:1.0:0.0	.	.	.	.	T	19	ENSP00000408863:A19T	ENSP00000408863:A19T	A	+	1	0	FRG1B	28236900	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	5.112000	0.64634	1.399000	0.46721	0.423000	0.28283	GCT		0.408	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	309	0	0	0	1	0	6	309				
KCNH5	27133	broad.mit.edu	37	14	63174996	63174996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:63174996G>A	ENST00000322893.7	-	11	2465	c.2197C>T	c.(2197-2199)Caa>Taa	p.Q733*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	733					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCTGGAGTTGGTTCCTCTCA	0.557																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2197-2199)Caa>Taa		potassium voltage-gated channel, subfamily H (eag-related), member 5							112.0	102.0	105.0					14																	63174996		2203	4300	6503	SO:0001587	stop_gained	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174996G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2197C>T	14.37:g.63174996G>A	ENSP00000321427:p.Gln733*					KCNH5_ENST00000420622.2_3'UTR	p.Q733*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2465	-			733					C9JP98	Nonsense_Mutation	SNP	ENST00000322893.7	37	c.2197C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443040	0.83993	.	.	ENSG00000140015	ENST00000322893	.	.	.	5.52	4.58	0.56647	.	0.171112	0.41500	D	0.000869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	11.6405	0.51230	0.0:0.1332:0.7289:0.1379	.	.	.	.	X	733	.	ENSP00000321427:Q733X	Q	-	1	0	KCNH5	62244749	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	3.188000	0.50958	2.611000	0.88343	0.655000	0.94253	CAA		0.557	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		19	60	0	0	0	1	0	19	60				
MUC5B	727897	broad.mit.edu	37	11	1272055	1272055	+	Missense_Mutation	SNP	G	G	A	rs373476136		TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr11:1272055G>A	ENST00000529681.1	+	31	14003	c.13945G>A	c.(13945-13947)Gcc>Acc	p.A4649T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4652T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4649	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.A4649T(1)|p.A4604T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cacccacaccgccagagtgct	0.612																																						ENST00000447027.1																			2	Substitution - Missense(2)	p.A4649T(1)|p.A4604T(1)	endometrium(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13954-13956)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming		C	THR/ALA	1,4241		0,1,2120	123.0	151.0	141.0		13945	-0.8	0.0	11		141	0,8448		0,0,4224	no	missense	MUC5B	NM_002458.2	58	0,1,6344	AA,AG,GG		0.0,0.0236,0.0079		4649/5763	1272055	1,12689	2121	4224	6345	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272055G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13945G>A	11.37:g.1272055G>A	ENSP00000436812:p.Ala4649Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4649T	p.A4652T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14012	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4649			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13954G>A	CCDS44515.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	3.668|3.668	-0.068133|-0.068133	0.07228|0.07228	2.36E-4|2.36E-4	0.0|0.0	ENSG00000117983|ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637|ENST00000535652	T;T|.	0.15834|.	2.39;2.57|.	0.976|0.976	-0.754|-0.754	0.11065|0.11065	.|.	.|.	.|.	.|.	.|.	T|T	0.11623|0.11623	0.0283|0.0283	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.25235|.	0.121|.	B|.	0.12156|.	0.007|.	T|T	0.18366|0.18366	-1.0339|-1.0339	9|6	0.87932|0.45353	D|T	0|0.12	.|.	4.0397|4.0397	0.09745|0.09745	0.0:0.3403:0.4612:0.1985|0.0:0.3403:0.4612:0.1985	.|.	4652|.	E9PBJ0|.	.|.	T|H	4649;4652;4593|423	ENSP00000436812:A4649T;ENSP00000415793:A4652T|.	ENSP00000343037:A4593T|ENSP00000439776:R423H	A|R	+|+	1|2	0|0	MUC5B|MUC5B	1228631|1228631	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	-5.897000|-5.897000	0.00092|0.00092	-1.423000|-1.423000	0.02002|0.02002	-1.123000|-1.123000	0.02005|0.02005	GCC|CGC		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	11	0	0	0	1	0	11	11				
GABRA2	2555	broad.mit.edu	37	4	46252463	46252463	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr4:46252463T>G	ENST00000510861.1	-	10	1391	c.1218A>C	c.(1216-1218)gaA>gaC	p.E406D	GABRA2_ENST00000356504.1_Missense_Mutation_p.E406D|GABRA2_ENST00000381620.4_Missense_Mutation_p.E406D|GABRA2_ENST00000540012.1_Missense_Mutation_p.E411D|GABRA2_ENST00000507069.1_Missense_Mutation_p.E466D|GABRA2_ENST00000514090.1_Missense_Mutation_p.E406D			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	406					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTTCTTTGCTTCAGCTGGCT	0.403																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(1216-1218)gaA>gaC		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						204.0	207.0	206.0					4																	46252463		2203	4299	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252463T>G		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1218A>C	4.37:g.46252463T>G	ENSP00000421828:p.Glu406Asp					GABRA2_ENST00000507069.1_Missense_Mutation_p.E466D|GABRA2_ENST00000356504.1_Missense_Mutation_p.E406D|GABRA2_ENST00000381620.4_Missense_Mutation_p.E406D|GABRA2_ENST00000514090.1_Missense_Mutation_p.E406D|GABRA2_ENST00000540012.1_Missense_Mutation_p.E411D	p.E406D			P47869	GBRA2_HUMAN			10	1391	-			406					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1218A>C	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.781779	0.31502	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.96	3.58	0.41010	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.043351	0.85682	D	0.000000	T	0.75199	0.3817	L	0.33093	0.98	0.39836	D	0.973041	B;B	0.22480	0.04;0.07	B;B	0.25140	0.039;0.058	T	0.67719	-0.5598	10	0.27082	T	0.32	.	7.5695	0.27898	0.0:0.2263:0.0:0.7737	.	411;406	B7Z1H8;P47869	.;GBRA2_HUMAN	D	406;406;406;406;411;466	ENSP00000421828:E406D;ENSP00000421300:E406D;ENSP00000371033:E406D;ENSP00000348897:E406D;ENSP00000444409:E411D;ENSP00000427603:E466D	ENSP00000348897:E406D	E	-	3	2	GABRA2	45947220	0.995000	0.38212	1.000000	0.80357	0.932000	0.56968	0.289000	0.18957	1.085000	0.41206	0.533000	0.62120	GAA		0.403	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			25	144	0	0	0	1	0	25	144				
FNDC7	163479	broad.mit.edu	37	1	109270464	109270464	+	Missense_Mutation	SNP	G	G	T	rs142706173	byFrequency	TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr1:109270464G>T	ENST00000370017.3	+	7	1423	c.1146G>T	c.(1144-1146)ttG>ttT	p.L382F	FNDC7_ENST00000271311.2_Missense_Mutation_p.L383F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	382	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		ACCCCGTGTTGGTGTCCAGTG	0.522																																						ENST00000370017.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1144-1146)ttG>ttT		fibronectin type III domain containing 7							298.0	262.0	274.0					1																	109270464		2203	4300	6503	SO:0001583	missense	163479					extracellular region		g.chr1:109270464G>T		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1146G>T	1.37:g.109270464G>T	ENSP00000359034:p.Leu382Phe					FNDC7_ENST00000271311.2_Missense_Mutation_p.L383F	p.L382F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	7	1423	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	383			Fibronectin type-III 5.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.1146G>T	CCDS44185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.92|10.92	1.486085|1.486085	0.26686|0.26686	.|.	.|.	ENSG00000143107|ENSG00000143107	ENST00000445274|ENST00000370017;ENST00000271311	.|T;T	.|0.47869	.|0.83;0.83	5.73|5.73	0.683|0.683	0.17998|0.17998	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.682071	.|0.15384	.|N	.|0.265157	T|T	0.06600|0.06600	0.0169|0.0169	N|N	0.12182|0.12182	0.205|0.205	0.28422|0.28422	N|N	0.917692|0.917692	.|B;B	.|0.11235	.|0.003;0.004	.|B;B	.|0.12156	.|0.007;0.005	T|T	0.30475|0.30475	-0.9977|-0.9977	5|10	.|0.09338	.|T	.|0.73	-2.791|-2.791	1.6266|1.6266	0.02724|0.02724	0.1545:0.2324:0.3493:0.2639|0.1545:0.2324:0.3493:0.2639	.|.	.|383;382	.|Q5VTL7;E9PAZ5	.|FNDC7_HUMAN;.	C|F	158|382;383	.|ENSP00000359034:L382F;ENSP00000271311:L383F	.|ENSP00000271311:L383F	G|L	+|+	1|3	0|2	FNDC7|FNDC7	109071987|109071987	0.798000|0.798000	0.28890|0.28890	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	0.171000|0.171000	0.16685|0.16685	0.364000|0.364000	0.24374|0.24374	0.561000|0.561000	0.74099|0.74099	GGT|TTG		0.522	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		18	112	1	0	1.45105e-14	1	1.69289e-14	18	112				
STRN4	29888	broad.mit.edu	37	19	47228840	47228840	+	Silent	SNP	G	G	A	rs148663953		TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr19:47228840G>A	ENST00000263280.6	-	10	1363	c.1314C>T	c.(1312-1314)taC>taT	p.Y438Y	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Silent_p.Y319Y|STRN4_ENST00000391910.3_Silent_p.Y445Y	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	438						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GAATGCCGTCGTAGTGCGAGC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		15420	0.0		0.001	False		,,,				2504	0.0					ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1333-1335)taC>taT		striatin, calmodulin binding protein 4		G	,	1,4405	2.1+/-5.4	0,1,2202	100.0	99.0	99.0		1335,1314	-1.0	1.0	19	dbSNP_134	99	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous	STRN4	NM_001039877.1,NM_013403.2	,	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	,	445/761,438/754	47228840	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228840G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1314C>T	19.37:g.47228840G>A						STRN4_ENST00000539396.1_Silent_p.Y319Y|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.Y438Y	p.Y445Y			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1785	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	438					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	c.1335C>T	CCDS12690.1																																																																																				0.607	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			16	23	0	0	0	1	0	16	23				
DNAH3	55567	broad.mit.edu	37	16	21098274	21098274	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr16:21098274G>C	ENST00000261383.3	-	19	2772	c.2773C>G	c.(2773-2775)Cgc>Ggc	p.R925G	DNAH3_ENST00000415178.1_Missense_Mutation_p.R925G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	925	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTGCTAAGCGCCTGGGTGCA	0.463																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(2773-2775)Cgc>Ggc		dynein, axonemal, heavy chain 3							253.0	229.0	237.0					16																	21098274		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21098274G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2773C>G	16.37:g.21098274G>C	ENSP00000261383:p.Arg925Gly					DNAH3_ENST00000415178.1_Missense_Mutation_p.R925G	p.R925G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	19	2772	-			925			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2773C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672397	0.67928	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61274	0.12;0.12	5.58	5.58	0.84498	Dynein heavy chain, domain-2 (1);	0.178143	0.38605	N	0.001635	T	0.63153	0.2487	L	0.52266	1.64	0.80722	D	1	P	0.49783	0.928	P	0.51385	0.668	T	0.55692	-0.8101	10	0.17369	T	0.5	.	19.5697	0.95407	0.0:0.0:1.0:0.0	.	925	Q8TD57	DYH3_HUMAN	G	925	ENSP00000261383:R925G;ENSP00000394245:R925G	ENSP00000261383:R925G	R	-	1	0	DNAH3	21005775	1.000000	0.71417	0.954000	0.39281	0.953000	0.61014	5.925000	0.70062	2.631000	0.89168	0.655000	0.94253	CGC		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	211	0	0	0	1	0	4	211				
PIKFYVE	200576	broad.mit.edu	37	2	209150561	209150561	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr2:209150561C>T	ENST00000264380.4	+	6	883	c.725C>T	c.(724-726)tCt>tTt	p.S242F	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S156F|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S242F|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S145F	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	242					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCTGCTTGCTCTGTGTCTGTG	0.428																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(724-726)tCt>tTt		phosphoinositide kinase, FYVE finger containing							149.0	146.0	147.0					2																	209150561		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209150561C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.725C>T	2.37:g.209150561C>T	ENSP00000264380:p.Ser242Phe					PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S242F|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S156F|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S145F	p.S242F	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			6	883	+			242					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.725C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409595	0.62399	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.67698	1.44;-0.28;1.59	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	L	0.29908	0.895	0.58432	D	0.999997	P;P;D;B;D	0.54207	0.895;0.877;0.965;0.38;0.965	P;P;P;B;P	0.51135	0.548;0.467;0.66;0.191;0.66	T	0.68142	-0.5487	10	0.59425	D	0.04	-19.4426	16.5534	0.84478	0.0:0.8697:0.1303:0.0	.	242;242;156;242;145	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	F	145;242;242;156;242	ENSP00000264380:S242F;ENSP00000384356:S242F;ENSP00000405736:S242F	ENSP00000264380:S242F	S	+	2	0	PIKFYVE	208858806	1.000000	0.71417	0.827000	0.32855	0.864000	0.49448	3.998000	0.57024	2.809000	0.96659	0.655000	0.94253	TCT		0.428	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		4	88	0	0	0	1	0	4	88				
NCR1	9437	broad.mit.edu	37	19	55421398	55421398	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr19:55421398C>T	ENST00000291890.4	+	5	693	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F	NCR1_ENST00000338835.5_Missense_Mutation_p.L219F|NCR1_ENST00000598576.1_Missense_Mutation_p.L207F|NCR1_ENST00000350790.5_Missense_Mutation_p.L124F|NCR1_ENST00000447255.1_Missense_Mutation_p.L219F|NCR1_ENST00000357397.5_Missense_Mutation_p.L112F|NCR1_ENST00000594765.1_Missense_Mutation_p.L219F	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	219					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAACACCAGCCTTGCACCTGA	0.433																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(655-657)Ctt>Ttt		natural cytotoxicity triggering receptor 1							188.0	190.0	190.0					19																	55421398		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55421398C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.655C>T	19.37:g.55421398C>T	ENSP00000291890:p.Leu219Phe					NCR1_ENST00000338835.5_Missense_Mutation_p.L219F|NCR1_ENST00000350790.5_Missense_Mutation_p.L124F|NCR1_ENST00000291890.4_Missense_Mutation_p.L219F|NCR1_ENST00000357397.5_Missense_Mutation_p.L112F|NCR1_ENST00000447255.1_Missense_Mutation_p.L219F|NCR1_ENST00000598576.1_Missense_Mutation_p.L207F	p.L219F			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	5	680	+			219					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.655C>T	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	5.213	0.224786	0.09916	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00587	6.82;6.77;6.84;6.61;6.38	3.1	-4.38	0.03622	.	7.553560	0.00166	N	0.000005	T	0.00666	0.0022	L	0.31926	0.97	0.09310	N	1	B;B;B;B;B;B	0.22746	0.069;0.035;0.009;0.074;0.009;0.032	B;B;B;B;B;B	0.27076	0.031;0.013;0.008;0.02;0.067;0.076	T	0.45512	-0.9256	10	0.45353	T	0.12	.	9.0201	0.36195	0.0:0.3298:0.0:0.6702	.	112;124;219;124;219;219	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	F	219;219;219;124;112	ENSP00000291890:L219F;ENSP00000404434:L219F;ENSP00000339515:L219F;ENSP00000344358:L124F;ENSP00000349972:L112F	ENSP00000291890:L219F	L	+	1	0	NCR1	60113210	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.187000	0.09656	-0.903000	0.03881	-0.496000	0.04628	CTT		0.433	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			16	135	0	0	0	1	0	16	135				
PTPN3	5774	broad.mit.edu	37	9	112182720	112182720	+	Silent	SNP	G	G	T	rs375004037		TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr9:112182720G>T	ENST00000374541.2	-	14	1401	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R	PTPN3_ENST00000446349.1_Silent_p.R257R|PTPN3_ENST00000412145.1_Silent_p.R302R|PTPN3_ENST00000262539.3_Silent_p.R279R|PTPN3_ENST00000394827.3_5'Flank	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	433					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCGGGCTTCGGTTCTGAGAA	0.453																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(904-906)Cga>Aga		protein tyrosine phosphatase, non-receptor type 3							88.0	82.0	84.0					9																	112182720		2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112182720G>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1297C>A	9.37:g.112182720G>T						PTPN3_ENST00000374541.2_Silent_p.R433R|PTPN3_ENST00000262539.3_Silent_p.R279R|PTPN3_ENST00000446349.1_Silent_p.R257R	p.R302R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			9	3457	-			433			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.904C>A	CCDS6776.1																																																																																				0.453	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			4	47	1	0	0.00909568	1	0.00909568	4	47				
MMP14	4323	broad.mit.edu	37	14	23311796	23311796	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:23311796T>A	ENST00000311852.6	+	4	819	c.558T>A	c.(556-558)caT>caA	p.H186Q	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	186					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	AGGGCTTCCATGGCGACAGCA	0.617																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(556-558)caT>caA		matrix metallopeptidase 14 (membrane-inserted)							99.0	79.0	86.0					14																	23311796		2203	4300	6503	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23311796T>A		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.558T>A	14.37:g.23311796T>A	ENSP00000308208:p.His186Gln					MMP14_ENST00000548162.1_3'UTR	p.H186Q	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	4	819	+	all_cancers(95;9.47e-05)		186					A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.558T>A	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283259	0.80803	.	.	ENSG00000157227	ENST00000311852;ENST00000548761	T;T	0.26957	1.7;1.7	5.67	-0.0364	0.13888	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60104	0.2243	H	0.97315	3.98	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.66337	-0.5949	10	0.87932	D	0	.	9.4758	0.38871	0.0:0.5212:0.0:0.4788	.	186	P50281	MMP14_HUMAN	Q	186;192	ENSP00000308208:H186Q;ENSP00000446989:H192Q	ENSP00000308208:H186Q	H	+	3	2	MMP14	22381636	0.190000	0.23276	0.993000	0.49108	0.987000	0.75469	-0.385000	0.07379	0.019000	0.15079	0.533000	0.62120	CAT		0.617	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		11	32	0	0	0	1	0	11	32				
CCDC88C	440193	broad.mit.edu	37	14	91875056	91875056	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:91875056G>A	ENST00000389857.6	-	3	303	c.217C>T	c.(217-219)Ctt>Ttt	p.L73F	CCDC88C_ENST00000389856.5_Missense_Mutation_p.L65F|CCDC88C_ENST00000554165.1_5'UTR|CCDC88C_ENST00000553403.1_Missense_Mutation_p.L73F	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	73				L -> F (in Ref. 1; CQ719279). {ECO:0000305}.	protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGAATGCGAAGGTTCACATCA	0.458																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(217-219)Ctt>Ttt		coiled-coil domain containing 88C							172.0	178.0	176.0					14																	91875056		2027	4176	6203	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91875056G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.217C>T	14.37:g.91875056G>A	ENSP00000374507:p.Leu73Phe					CCDC88C_ENST00000389856.5_Missense_Mutation_p.L65F|CCDC88C_ENST00000553403.1_Missense_Mutation_p.L73F|CCDC88C_ENST00000554165.1_5'UTR	p.L73F	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			3	303	-		all_cancers(154;0.0468)	73	L -> F (in Ref. 1; CQ719279).				Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.217C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360854	0.61403	.	.	ENSG00000015133	ENST00000389857;ENST00000541408;ENST00000389856;ENST00000553403	T;T;T	0.50001	1.55;0.76;0.76	5.02	5.02	0.67125	.	0.000000	0.32015	U	0.006711	T	0.71350	0.3329	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.948	T	0.75811	-0.3186	10	0.72032	D	0.01	-11.4815	18.2924	0.90135	0.0:0.0:1.0:0.0	.	73;73	Q9P219;G3V3S0	DAPLE_HUMAN;.	F	73;37;65;73	ENSP00000374507:L73F;ENSP00000374506:L65F;ENSP00000451392:L73F	ENSP00000374506:L65F	L	-	1	0	CCDC88C	90944809	1.000000	0.71417	0.997000	0.53966	0.105000	0.19272	8.022000	0.88759	2.501000	0.84356	0.650000	0.86243	CTT		0.458	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		4	30	0	0	0	1	0	4	30				
NPY1R	4886	broad.mit.edu	37	4	164246696	164246696	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr4:164246696C>G	ENST00000296533.2	-	3	1445	c.914G>C	c.(913-915)tGc>tCc	p.C305S	NPY1R_ENST00000509586.1_Missense_Mutation_p.C62S	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	305					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTGAGGTGGCAGAGCAGGAA	0.423																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(913-915)tGc>tCc		neuropeptide Y receptor Y1							89.0	96.0	94.0					4																	164246696		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246696C>G		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.914G>C	4.37:g.164246696C>G	ENSP00000354652:p.Cys305Ser					NPY1R_ENST00000509586.1_Missense_Mutation_p.C62S	p.C305S	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			3	1445	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	305					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.914G>C	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022262	0.75275	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391	T;T;T	0.72835	-0.69;-0.69;1.41	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82762	-0.0297	10	0.48119	T	0.1	.	19.9311	0.97118	0.0:1.0:0.0:0.0	.	305	P25929	NPY1R_HUMAN	S	305;62;62	ENSP00000354652:C305S;ENSP00000427284:C62S;ENSP00000422963:C62S	ENSP00000354652:C305S	C	-	2	0	NPY1R	164466146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.714000	0.92807	0.655000	0.94253	TGC		0.423	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			6	47	0	0	0	1	0	6	47				
TTN	7273	broad.mit.edu	37	2	179596174	179596174	+	Silent	SNP	G	G	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr2:179596174G>A	ENST00000591111.1	-	57	16592	c.16368C>T	c.(16366-16368)gaC>gaT	p.D5456D	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.D5773D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.D4529D			Q8WZ42	TITIN_HUMAN	titin	12275	Ig-like 35.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATATTATCGTCTTCAGTGA	0.483																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17317-17319)gaC>gaT		titin							114.0	108.0	110.0					2																	179596174		1928	4141	6069	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596174G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16368C>T	2.37:g.179596174G>A						TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.D4529D|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.D5456D	p.D5773D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		59	17543	-			5456			Ig-like 38.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.17319C>T																																																																																					0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	51	0	0	0	1	0	23	51				
BOC	91653	broad.mit.edu	37	3	112987285	112987285	+	Silent	SNP	C	C	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr3:112987285C>A	ENST00000495514.1	+	5	1220	c.516C>A	c.(514-516)gcC>gcA	p.A172A	BOC_ENST00000273395.4_Silent_p.A172A|BOC_ENST00000355385.3_Silent_p.A172A			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	172	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGCTGGAGGCCTCCAGAGGTG	0.617																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(514-516)gcC>gcA		BOC cell adhesion associated, oncogene regulated							56.0	50.0	52.0					3																	112987285		2203	4300	6503	SO:0001819	synonymous_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112987285C>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.516C>A	3.37:g.112987285C>A						BOC_ENST00000273395.4_Silent_p.A172A|BOC_ENST00000355385.3_Silent_p.A172A	p.A172A			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		5	1220	+			172			Ig-like C2-type 2.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	c.516C>A	CCDS2971.1																																																																																				0.617	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		3	15	1	0	0.00024832	1	0.000257517	3	15				
MACROD2	140733	broad.mit.edu	37	20	15480461	15480461	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr20:15480461T>C	ENST00000310348.4	+	8	614	c.614T>C	c.(613-615)aTt>aCt	p.I205T	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000217246.4_Missense_Mutation_p.I205T			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	205	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTCAACACCATTAAGGAATGG	0.448																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(613-615)aTt>aCt		MACRO domain containing 2							137.0	127.0	130.0					20																	15480461		1959	4159	6118	SO:0001583	missense	140733							g.chr20:15480461T>C	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.614T>C	20.37:g.15480461T>C	ENSP00000309809:p.Ile205Thr					MACROD2_ENST00000310348.4_Missense_Mutation_p.I205T|MACROD2_ENST00000402914.1_5'UTR	p.I205T	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			8	1009	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	205			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.614T>C	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	T	12.22	1.872620	0.33069	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.27402	1.67;1.67	5.86	3.61	0.41365	Appr-1-p processing (1);	0.134388	0.34386	N	0.004005	T	0.23649	0.0572	L	0.33753	1.03	0.80722	D	1	B;B	0.32467	0.007;0.372	B;B	0.35413	0.003;0.202	T	0.03423	-1.1038	10	0.42905	T	0.14	-1.0966	8.9465	0.35762	0.0:0.2111:0.0:0.7889	.	205;205	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	T	205	ENSP00000217246:I205T;ENSP00000309809:I205T	ENSP00000217246:I205T	I	+	2	0	MACROD2	15428461	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	1.047000	0.30367	0.482000	0.27582	-0.263000	0.10527	ATT		0.448	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		20	26	0	0	0	1	0	20	26				
POLE2	5427	broad.mit.edu	37	14	50146494	50146494	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:50146494G>C	ENST00000216367.5	-	3	293	c.194C>G	c.(193-195)tCt>tGt	p.S65C	POLE2_ENST00000554396.1_Missense_Mutation_p.S65C|POLE2_ENST00000539565.2_Missense_Mutation_p.S65C|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000553805.2_Missense_Mutation_p.S65C	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	65					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	TTCCACCACAGATCGTTCAAT	0.368																																						ENST00000539565.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(193-195)tCt>tGt		polymerase (DNA directed), epsilon 2, accessory subunit							100.0	85.0	90.0					14																	50146494		2203	4300	6503	SO:0001583	missense	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50146494G>C	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.194C>G	14.37:g.50146494G>C	ENSP00000216367:p.Ser65Cys					POLE2_ENST00000553805.2_Missense_Mutation_p.S65C|POLE2_ENST00000216367.5_Missense_Mutation_p.S65C|POLE2_ENST00000554396.1_Missense_Mutation_p.S65C|POLE2_ENST00000556584.1_5'UTR	p.S65C	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN			3	412	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		65					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.194C>G	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875742	0.51695	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.32515	1.86;1.84;1.45	5.44	5.44	0.79542	DNA polymerase epsilon subunit B, N-terminal (1);	0.055833	0.64402	D	0.000001	T	0.32556	0.0833	L	0.45581	1.43	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.05289	-1.0894	10	0.49607	T	0.09	-30.9224	18.8619	0.92276	0.0:0.0:1.0:0.0	.	65	P56282	DPOE2_HUMAN	C	65	ENSP00000216367:S65C;ENSP00000446313:S65C;ENSP00000451621:S65C	ENSP00000216367:S65C	S	-	2	0	POLE2	49216244	0.963000	0.33076	1.000000	0.80357	0.812000	0.45895	5.184000	0.65070	2.537000	0.85549	0.655000	0.94253	TCT		0.368	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		12	20	0	0	0	1	0	12	20				
IGFBP3	3486	broad.mit.edu	37	7	45956263	45956263	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr7:45956263G>A	ENST00000275521.6	-	3	767	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381086.5_Missense_Mutation_p.P115S|IGFBP3_ENST00000381083.4_Missense_Mutation_p.P218S	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	212	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CTACGGCAGGGACCCTGGGGA	0.468																																						ENST00000275521.6																			0				large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17						c.(634-636)Ccc>Tcc		insulin-like growth factor binding protein 3	Mecasermin(DB01277)						148.0	133.0	138.0					7																	45956263		2203	4300	6503	SO:0001583	missense	3486				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956263G>A		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.634C>T	7.37:g.45956263G>A	ENSP00000275521:p.Pro212Ser					IGFBP3_ENST00000381086.5_Missense_Mutation_p.P115S|IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.P218S	p.P212S	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN			3	767	-			212			Thyroglobulin type-1.		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	c.634C>T	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.617462|4.617462	0.87359|0.87359	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817|ENST00000417621	T;T;T;T|.	0.65732|.	-0.17;-0.17;-0.17;-0.17|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Thyroglobulin type-1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73497|0.73497	0.3594|0.3594	M|M	0.72576|0.72576	2.205|2.205	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.992;0.992|.	T|T	0.74109|0.74109	-0.3771|-0.3771	10|5	0.56958|.	D|.	0.05|.	-32.6798|-32.6798	15.4189|15.4189	0.74995|0.74995	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	115;212;197|.	B3KWK7;P17936;B4DN53|.	.;IBP3_HUMAN;.|.	S|F	189;212;115;198;110;218;184;102|73	ENSP00000275521:P212S;ENSP00000370476:P115S;ENSP00000370473:P218S;ENSP00000389668:P102S|.	ENSP00000275521:P212S|.	P|S	-|-	1|2	0|0	IGFBP3|IGFBP3	45922788|45922788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	9.272000|9.272000	0.95707|0.95707	2.236000|2.236000	0.73375|0.73375	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.468	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		5	83	0	0	0	1	0	5	83				
PODNL1	79883	broad.mit.edu	37	19	14043665	14043665	+	Silent	SNP	C	C	T			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr19:14043665C>T	ENST00000339560.5	-	8	1665	c.1392G>A	c.(1390-1392)cgG>cgA	p.R464R	PODNL1_ENST00000254320.3_Silent_p.R382R|PODNL1_ENST00000538517.2_Silent_p.R373R|PODNL1_ENST00000538371.2_Silent_p.R462R	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	464						proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CGACCCGGAGCCGGTTGTGCG	0.692																																						ENST00000538517.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(1117-1119)cgG>cgA		podocan-like 1							14.0	18.0	17.0					19																	14043665		2194	4292	6486	SO:0001819	synonymous_variant	79883					proteinaceous extracellular matrix		g.chr19:14043665C>T	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1392G>A	19.37:g.14043665C>T						PODNL1_ENST00000339560.5_Silent_p.R464R|PODNL1_ENST00000538371.2_Silent_p.R462R|PODNL1_ENST00000254320.3_Silent_p.R382R	p.R373R	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		6	1363	-			464			Leu-rich.		B7Z564|Q9H5G9	Silent	SNP	ENST00000339560.5	37	c.1119G>A	CCDS12300.1																																																																																				0.692	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		5	13	0	0	0	1	0	5	13				
TEKT4P2	100132288	broad.mit.edu	37	21	9912066	9912068	+	RNA	DEL	CAG	CAG	-			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr21:9912066_9912068delCAG	ENST00000416067.1	-	0	129					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		GCTTCTGGGCCAGCAGCAGGTCG	0.66																																						ENST00000416067.1																			0																																																			100132288							g.chr21:9912066_9912068delCAG			21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9912072_9912074delCAG								NR_037872.1|NR_038327.1						0	129	-									RNA	DEL	ENST00000416067.1	37																																																																																						0.660	TEKT4P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417115.1	NM_001033515		3	5						3	5	---	---	---	---
