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	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	ref_context	gc_content	COSMIC_n_overlapping_mutations	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_Chromosome	ESP_Position	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	HGNC_AccessionNumbers	HGNC_CCDSIDs	HGNC_Chromosome	HGNC_DateModified	HGNC_DateNameChanged	HGNC_DateSymbolChanged	HGNC_EnsemblGeneID	HGNC_EnsemblIDsuppliedbyEnsembl	HGNC_Genefamilydescription	HGNC_HGNCID	HGNC_LocusGroup	HGNC_LocusType	HGNC_NameSynonyms	HGNC_OMIMIDsuppliedbyNCBI	HGNC_PreviousNames	HGNC_PreviousSymbols	HGNC_PubmedIDs	HGNC_RecordType	HGNC_RefSeqsuppliedbyNCBI	HGNC_Status	HGNC_Synonyms	HGNC_UCSCIDsuppliedbyUCSC	HGNC_UniProtIDsuppliedbyUniProt	HGNC_VEGAIDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	UniProt_alt_uniprot_accessions	annotation_transcript	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	init_n_lod	init_t_lod	isArtifactMode	n_alt_count	n_ref_count	oxoGCut	pox	pox_cutoff	qox	refseq_mrna_id	t_alt_count	t_lod_fstar	t_ref_count	tumor_f
KDM3B	51780	broad.mit.edu	hg19	5	137750822	137750822	+	Splice_Site	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:137750822G>A	ENST00000314358.5	+	12	3401	c.3201G>A	c.(3199-3201)gaG>gaA	p.E1067E	KDM3B_ENST00000394866.1_Splice_Site_p.E723E|KDM3B_ENST00000542866.1_Splice_Site_p.E99E	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1067		chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65					CTATTTCAGAGACAGAAGAGA	0.413	0	75.0	76.0	76.0	5	137750822	2203	4300	6503	SO:0001630	splice_region_variant	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733	"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B	15138608	Standard	NM_016604	Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3200-1G>A	5.37:g.137750822G>A		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	ENST00000314358.5	37	CCDS34242.1																																																																																			KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1		17.772859	0	-14	22	0	0	1	0	NM_016604	8	21.745908	35	0.186047
PLCB4	5332	broad.mit.edu	hg19	20	9389754	9389754	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr20:9389754A>T	ENST00000378501.2	+	20	1904	c.1889A>T	c.(1888-1890)gAt>gTt	p.D630V	PLCB4_ENST00000334005.3_Missense_Mutation_p.D630V|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642V|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630V|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D630V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box.	intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87					GGCCGAGTCGATTCCAGTAAT	0.448	0	68.0	57.0	61.0	20	9389754	2203	4300	6503	SO:0001583	missense		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333		9059	protein-coding gene	gene with protein product		600810			8530101	Standard	NM_000933	Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378501.2:c.1889A>T	20.37:g.9389754A>T	ENSP00000367762:p.Asp630Val	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	ENST00000378501.2	37	CCDS13104.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.821210	0.90873	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	6.04	6.04	0.98038	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	H	0.98507	4.25	0.80722	D	1	D;P;D;D	0.76494	0.976;0.765;0.999;0.984	D;P;D;D	0.85130	0.962;0.633;0.997;0.936	D	0.91326	0.5086	10	0.87932	D	0	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	642;477;630;630	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	V	630;642;630;630;630;478	ENSP00000334105:D630V;ENSP00000367734:D642V;ENSP00000278655:D630V;ENSP00000367754:D630V;ENSP00000367762:D630V;ENSP00000390616:D478V	ENSP00000278655:D630V	D	+	2	0	PLCB4	9337754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	GAT	PLCB4-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077958.2		88.258858	0	-34	69	0	0	1	0		29	88.854359	43	0.402778
RPL26L1	51121	broad.mit.edu	hg19	5	172395506	172395506	+	Silent	SNP	C	C	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:172395506C>G	ENST00000521476.1	+	3	337	c.213C>G	c.(211-213)gtC>gtG	p.V71V	RPL26L1_ENST00000519974.1_Silent_p.V71V|RPL26L1_ENST00000519239.1_Silent_p.V71V|RPL26L1_ENST00000265100.2_Silent_p.V71V			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	71		endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		GCAAGGTAGTCCAGGTGTACA	0.463	0	201.0	186.0	191.0	5	172395506	2203	4300	6503	SO:0001819	synonymous_variant	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241	"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1	11042152	Standard	NM_016093	Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.213C>G	5.37:g.172395506C>G		B3KY82|D3DQM0	ENST00000521476.1	37	CCDS4382.1																																																																																			RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1		-28.829090	0	-22	154	0	0	1	0	NM_016093	4	8.017246	145	0.026846
TNPO3	23534	ucsc.edu	hg19	7	128694715	128694715	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f																										CGAACGCTGCAGCTCCCCAAG	0.657	0	53.0	48.0	50.0	7	128694715	2203	4300	6503	SO:0001583	missense	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419	"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F	10366588, 10713112, 23543484, 23667635	Standard	NM_012470	Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.110T>C	7.37:g.128694715A>G	ENSP00000265388:p.Leu37Pro	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	ENST00000265388.5	37	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.044682	0.93685	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000471234;ENST00000471166	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.83367	0.5239	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.979;0.98;0.962	D	0.85496	0.1188	10	0.72032	D	0.01	-7.5303	13.8689	0.63605	1.0:0.0:0.0:0.0	.	37;37;37	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	P	37	ENSP00000376936:L37P;ENSP00000265388:L37P;ENSP00000418646:L37P;ENSP00000418267:L37P	ENSP00000265388:L37P	L	-	2	0	TNPO3	128481951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.218000	0.71995	0.533000	0.62120	CTG	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1				5	43					NM_012470	4		19	
LHFPL4	375323	broad.mit.edu	hg19	3	9547848	9547848	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr3:9547848C>A	ENST00000287585.6	-	3	731	c.446G>T	c.(445-447)gGc>gTc	p.G149V		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	149			integral to membrane		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)				GGCATCCCAGCCATCAGGAAA	0.602	0	107.0	94.0	98.0	3	9547848	2203	4300	6503	SO:0001583	missense	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959		29568	protein-coding gene	gene with protein product		610240			15905332	Standard	NM_198560	Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.446G>T	3.37:g.9547848C>A	ENSP00000287585:p.Gly149Val	A1L383|A4D0Q5	ENST00000287585.6	37	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843562	0.91197	.	.	ENSG00000156959	ENST00000287585	T	0.79845	-1.31	5.27	5.27	0.74061	.	0.000000	0.64402	U	0.000003	D	0.91998	0.7465	M	0.92026	3.265	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.93619	0.6946	10	0.87932	D	0	-18.7726	18.496	0.90865	0.0:1.0:0.0:0.0	.	149	Q7Z7J7	LHPL4_HUMAN	V	149	ENSP00000287585:G149V	ENSP00000287585:G149V	G	-	2	0	LHFPL4	9522848	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.783000	0.85696	2.488000	0.83962	0.591000	0.81541	GGC	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1		-0.004634	1	-18	45	0	1	1	1	NM_198560	3	6.612262	34	0.081081
PRKCB	5579	broad.mit.edu	hg19	16	24196869	24196869	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr16:24196869C>T	ENST00000303531.7	+	15	1855	c.1703C>T	c.(1702-1704)gCt>gTt	p.A568V	PRKCB_ENST00000321728.7_Missense_Mutation_p.A568V	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	568	Protein kinase.	apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					TCCAAGGAAGCTGTGGCCATC	0.507	0	145.0	120.0	128.0	16	24196869	2197	4300	6497	SO:0001583	missense	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1	3658678	Standard	NM_002738	Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1703C>T	16.37:g.24196869C>T	ENSP00000318315:p.Ala568Val	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587887	0.96590	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.67698	-0.28;-0.28	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	L	0.53780	1.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.975;0.985	T	0.80016	-0.1559	10	0.87932	D	0	.	19.2318	0.93843	0.0:1.0:0.0:0.0	.	568;568	P05771-2;P05771	.;KPCB_HUMAN	V	568	ENSP00000318315:A568V;ENSP00000305355:A568V	ENSP00000305355:A568V	A	+	2	0	PRKCB	24104370	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.476000	0.81055	2.865000	0.98341	0.655000	0.94253	GCT	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2		77.903831	0	-14	61	0	0	1	0	NM_212535	26	78.090137	33	0.440678
GRID2	2895	broad.mit.edu	hg19	4	94693493	94693493	+	Silent	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr4:94693493C>T	ENST00000282020.4	+	16	3126	c.2868C>T	c.(2866-2868)aaC>aaT	p.N956N	GRID2_ENST00000510992.1_Silent_p.N861N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	956	Interaction with AP4M1 (By similarity).	glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	CTTTTGGCAACGTGCCTGAGC	0.468	0	83.0	79.0	80.0	4	94693493	2203	4300	6503	SO:0001819	synonymous_variant	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208	"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368			9465309	Standard	NM_001510	Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2868C>T	4.37:g.94693493C>T		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	ENST00000282020.4	37	CCDS3637.1																																																																																			GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		49.356040	0	-8	49	0	0	1	0		17	51.003283	37	0.314815
ADAMTS4	9507	broad.mit.edu	hg19	1	161164004	161164004	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:161164004A>C	ENST00000367996.5	-	5	1697	c.1269T>G	c.(1267-1269)tgT>tgG	p.C423W	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Peptidase M12B.	proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		TGTCTAAGAGACAGTGCCCTG	0.592	0	43.0	49.0	47.0	1	161164004	2190	4296	6486	SO:0001583	missense	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""		10094461	Standard	NM_005099	Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1269T>G	1.37:g.161164004A>C	ENSP00000356975:p.Cys423Trp	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.057104	0.55325	.	.	ENSG00000158859	ENST00000367996	D	0.98313	-4.86	5.05	0.184	0.15086	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000002	D	0.98969	0.9649	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99139	1.0855	10	0.87932	D	0	.	9.5193	0.39124	0.4611:0.0:0.5389:0.0	.	423	O75173	ATS4_HUMAN	W	423	ENSP00000356975:C423W	ENSP00000356975:C423W	C	-	3	2	ADAMTS4	159430628	0.995000	0.38212	0.998000	0.56505	0.909000	0.53808	0.317000	0.19487	0.113000	0.18004	0.459000	0.35465	TGT	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2		32.081865	0	-20	52	0	0	1	0	NM_005099	12	33.813059	30	0.285714
PRDM8	56978	broad.mit.edu	hg19	4	81123464	81123464	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr4:81123464T>A	ENST00000339711.4	+	10	2079	c.848T>A	c.(847-849)cTc>cAc	p.L283H	PRDM8_ENST00000504452.1_Missense_Mutation_p.L283H|PRDM8_ENST00000415738.2_Missense_Mutation_p.L283H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	283	Gly-rich.|Ser-rich.	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10					GCCCAGAGCCTCAgcagcggt	0.701	0	9.0	12.0	11.0	4	81123464	1528	3569	5097	SO:0001583	missense	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784		13993	protein-coding gene	gene with protein product						Standard	NM_020226	Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.848T>A	4.37:g.81123464T>A	ENSP00000423985:p.Leu283His	A8K7X2|Q6IQ36	ENST00000504452.1	37	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459334	0.63401	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.69175	-0.38;0.18;-0.38;-0.38	4.5	4.5	0.54988	.	0.259050	0.20266	U	0.095775	T	0.56352	0.1979	N	0.19112	0.55	0.09310	N	1	D	0.59767	0.986	P	0.47626	0.552	T	0.52419	-0.8578	10	0.51188	T	0.08	.	11.7849	0.52037	0.0:0.0:0.0:1.0	.	283	Q9NQV8	PRDM8_HUMAN	H	283	ENSP00000423985:L283H;ENSP00000425149:L283H;ENSP00000339764:L283H;ENSP00000406998:L283H	ENSP00000339764:L283H	L	+	2	0	PRDM8	81342488	0.132000	0.22450	0.040000	0.18447	0.655000	0.38815	0.000000	0.12993	1.879000	0.54435	0.260000	0.18958	CTC	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1		20.923992	0	-6	14	0	0	1	0		7	20.938448	8	0.466667
RPS25	6230	broad.mit.edu	hg19	11	118888181	118888181	+	Silent	SNP	G	G	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr11:118888181G>C	ENST00000527673.1	-	3	579	c.174C>G	c.(172-174)ctC>ctG	p.L58L		NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	58		endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	CTTCCTTACAGAGTTTATCAT	0.463	0	50.0	53.0	52.0	11	118888181	2200	4295	6495	SO:0001819	synonymous_variant	M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181	"""S ribosomal proteins"""	10413	protein-coding gene	gene with protein product		180465			1748303	Standard	NM_001028	Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.174C>G	11.37:g.118888181G>C		B2R4M7|P25111	ENST00000527673.1	37	CCDS8406.1																																																																																			RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1		45.375033	0	-6	66	0	0	1	0	NM_001028	16	47.839408	41	0.280702
IFNLR1	163702	broad.mit.edu	hg19	1	24484271	24484271	+	Silent	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:24484271C>T	ENST00000327535.1	-	7	924	c.912G>A	c.(910-912)ccG>ccA	p.P304P	IFNLR1_ENST00000374421.3_Silent_p.P275P|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1												CTCGAGGCGTCGGCCTGACCC	0.582	0	133.0	136.0	135.0	1	24484271	2203	4300	6503	SO:0001819	synonymous_variant	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436	"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA		Standard	NM_173064	Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.912G>A	1.37:g.24484271C>T		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	ENST00000327535.1	37	CCDS248.1																																																																																			IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1		150.961079	0	-39	138	0	0	1	0	NM_170743	46	151.427877	33	0.582278
CPVL	54504	broad.mit.edu	hg19	7	29103844	29103844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr7:29103844C>A	ENST00000409850.1	-	15	1616	c.970G>T	c.(970-972)Gag>Tag	p.E324*	CPVL_ENST00000265394.5_Nonsense_Mutation_p.E324*|CPVL_ENST00000396276.3_Nonsense_Mutation_p.E324*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	324		proteolysis		protein binding|serine-type carboxypeptidase activity	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28					AGCTGATCCTCAGGTTCCTGG	0.423	0	70.0	72.0	71.0	7	29103844	2203	4300	6503	SO:0001587	stop_gained	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066		14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780			11401439	Standard	XM_005249786	Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.970G>T	7.37:g.29103844C>A	ENSP00000387164:p.Glu324*	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	ENST00000409850.1	37	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.080750|7.080750	0.98051|0.98051	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995|ENST00000432534	.|.	.|.	.|.	5.87|5.87	4.05|4.05	0.47172|0.47172	.|.	0.222920|.	0.44688|.	D|.	0.000421|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.06236|.	T|.	0.91|.	-20.1695|-20.1695	7.4405|7.4405	0.27181|0.27181	0.1346:0.7223:0.0:0.1431|0.1346:0.7223:0.0:0.1431	.|.	.|.	.|.	.|.	X|L	324;324;324;208|27	.|.	ENSP00000265394:E324X|.	E|X	-|-	1|2	0|2	CPVL|CPVL	29070369|29070369	0.995000|0.995000	0.38212|0.38212	0.997000|0.997000	0.53966|0.53966	0.899000|0.899000	0.52679|0.52679	1.171000|1.171000	0.31896|0.31896	0.915000|0.915000	0.36847|0.36847	0.655000|0.655000	0.94253|0.94253	GAG|TGA	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1		25.964684	1	1	42	0	6.40141e-05	1	6.8015e-05	NM_019029	9	26.757934	19	0.321429
PLCB4	5332	broad.mit.edu	hg19	20	9389753	9389753	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr20:9389753G>T	ENST00000378501.2	+	20	1903	c.1888G>T	c.(1888-1890)Gat>Tat	p.D630Y	PLCB4_ENST00000334005.3_Missense_Mutation_p.D630Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D630Y	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box.	intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87					AGGCCGAGTCGATTCCAGTAA	0.448	0	67.0	57.0	60.0	20	9389753	2203	4300	6503	SO:0001583	missense		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333		9059	protein-coding gene	gene with protein product		600810			8530101	Standard	NM_000933	Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378501.2:c.1888G>T	20.37:g.9389753G>T	ENSP00000367762:p.Asp630Tyr	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	ENST00000378501.2	37	CCDS13104.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009532	0.93346	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	6.04	6.04	0.98038	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	H	0.94582	3.555	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.965;0.999;0.996	D	0.87247	0.2270	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	642;477;630;630	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	Y	630;642;630;630;630;478	ENSP00000334105:D630Y;ENSP00000367734:D642Y;ENSP00000278655:D630Y;ENSP00000367754:D630Y;ENSP00000367762:D630Y;ENSP00000390616:D478Y	ENSP00000278655:D630Y	D	+	1	0	PLCB4	9337753	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GAT	PLCB4-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077958.2		87.686951	1	-32	70	0	6.38683e-12	1	7.23841e-12		28	88.298896	42	0.400000
IL12RB2	3595	broad.mit.edu	hg19	1	67845674	67845674	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:67845674C>A	ENST00000262345.1	+	13	2363	c.1723C>A	c.(1723-1725)Ccc>Acc	p.P575T	IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P489T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.P575T|IL12RB2_ENST00000371000.1_Missense_Mutation_p.P575T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	575	Fibronectin type-III 5.	positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45					TTCAGAAATTCCCTACAGAGT	0.403	0	76.0	75.0	76.0	1	67845674	2203	4300	6503	SO:0001583	missense	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985	"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642			9284929, 8943050	Standard	NM_001559	Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1723C>A	1.37:g.67845674C>A	ENSP00000262345:p.Pro575Thr	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067970	0.36470	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.39	4.48	0.54585	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.516425	0.19907	N	0.103392	T	0.45337	0.1337	M	0.61703	1.905	0.25770	N	0.984845	D;D;P;D	0.67145	0.982;0.996;0.9;0.982	P;P;B;P	0.61874	0.824;0.895;0.39;0.824	T	0.33854	-0.9852	10	0.10636	T	0.68	-9.2277	10.1953	0.43051	0.0:0.908:0.0:0.092	.	575;489;575;575	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	T	575;575;575;489	ENSP00000262345:P575T;ENSP00000360039:P575T;ENSP00000445276:P575T;ENSP00000442443:P489T	ENSP00000262345:P575T	P	+	1	0	IL12RB2	67618262	0.060000	0.20803	0.980000	0.43619	0.292000	0.27327	0.964000	0.29306	1.420000	0.47138	0.557000	0.71058	CCC	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2		43.078880	1	-5	63	0	6.49762e-13	1	7.6179e-13	NM_001559	16	44.936786	37	0.301887
FBLN7	129804	broad.mit.edu	hg19	2	112942885	112942885	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:112942885G>A	ENST00000331203.2	+	7	1187	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	FBLN7_ENST00000409903.1_Missense_Mutation_p.G306S|FBLN7_ENST00000409450.3_Missense_Mutation_p.G260S|FBLN7_ENST00000409667.3_Missense_Mutation_p.G172S	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	306	EGF-like 3; calcium-binding (Potential).	cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17					CGAGGGCAGCGGCAATGTGAG	0.617	0	122.0	103.0	109.0	2	112942885	2203	4300	6503	SO:0001583	missense		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152	"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551			17699513	Standard	NM_153214	Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000409903.1:c.916G>A	2.37:g.112942885G>A	ENSP00000386295:p.Gly306Ser	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	ENST00000409903.1	37		.	.	.	.	.	.	.	.	.	.	G	18.03	3.532357	0.64972	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.37	0.171	0.15026	EGF-like calcium-binding (2);	0.297460	0.42053	N	0.000765	D	0.84361	0.5455	L	0.41824	1.3	0.44627	D	0.997607	B;B;B;D	0.57257	0.056;0.041;0.03;0.979	B;B;B;B	0.43018	0.045;0.027;0.017;0.405	T	0.77923	-0.2406	10	0.15066	T	0.55	-14.0909	6.5848	0.22614	0.2053:0.2385:0.5562:0.0	.	172;260;306;306	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	S	306;306;172;260;200;128	ENSP00000331411:G306S;ENSP00000386295:G306S;ENSP00000386822:G172S;ENSP00000387000:G260S;ENSP00000388025:G200S;ENSP00000272559:G128S	ENSP00000272559:G128S	G	+	1	0	FBLN7	112659356	0.930000	0.31532	0.842000	0.33263	0.977000	0.68977	1.398000	0.34554	0.002000	0.14630	0.561000	0.74099	GGC	FBLN7-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000330506.1		-0.307145	0	4	53	0	0	1	0	NM_153214	3	7.105567	37	0.075000
OLFM4	10562	broad.mit.edu	hg19	13	53624627	53624627	+	Silent	SNP	A	A	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr13:53624627A>G	ENST00000219022.2	+	5	1332	c.1254A>G	c.(1252-1254)ctA>ctG	p.L418L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	418	Olfactomedin-like.	cell adhesion	extracellular space		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)	TTCAGGTGCTAAACACTTGGT	0.433	0	158.0	138.0	145.0	13	53624627	2203	4300	6503	SO:0001819	synonymous_variant	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837		17190	protein-coding gene	gene with protein product		614061				Standard	NM_006418	Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1254A>G	13.37:g.53624627A>G		O95362|Q5VWG0|Q86T22	ENST00000219022.2	37	CCDS9440.1																																																																																			OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2		-17.720461	0	4	123	0	0	1	0	NM_006418	4	6.771736	101	0.038095
CEP192	55125	broad.mit.edu	hg19	18	13096255	13096255	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr18:13096255G>T	ENST00000506447.1	+	36	6586	c.6506G>T	c.(6505-6507)tGg>tTg	p.W2169L	CEP192_ENST00000430049.2_Missense_Mutation_p.W1694L|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.W1573L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1764					NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71					GAGCTGTGCTGGCCAGCGCAT	0.483	0	111.0	105.0	107.0	18	13096255	2203	4300	6503	SO:0001583	missense	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""				11230166, 14654843	Standard	NM_032142	Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000506447.1:c.6506G>T	18.37:g.13096255G>T	ENSP00000427550:p.Trp2169Leu	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	ENST00000506447.1	37	CCDS32792.2	.	.	.	.	.	.	.	.	.	.	G	33	5.235481	0.95240	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.56275	0.47;0.47;0.47	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.77189	-0.2679	10	0.87932	D	0	-6.5846	18.9658	0.92695	0.0:0.0:1.0:0.0	.	1694;2169;173;771	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	L	2169;1573;1573;1694;173	ENSP00000427550:W2169L;ENSP00000317156:W1573L;ENSP00000389190:W1694L	ENSP00000317156:W1573L	W	+	2	0	CEP192	13086255	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.035000	0.93752	2.477000	0.83638	0.491000	0.48974	TGG	CEP192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361790.1		68.205973	1	-6	56	0	1.64293e-13	1	2.06888e-13	NM_032142	23	69.542764	43	0.348485
CTTNBP2NL	55917	broad.mit.edu	hg19	1	112999731	112999731	+	Silent	SNP	T	T	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:112999731T>C	ENST00000271277.6	+	6	1842	c.1617T>C	c.(1615-1617)acT>acC	p.T539T	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	539			actin cytoskeleton	protein binding	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	TAGCCAACACTGCCAATCCAA	0.542	0	147.0	134.0	138.0	1	112999731	2203	4300	6503	SO:0001819	synonymous_variant	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079		25330	protein-coding gene	gene with protein product		615100			10718198	Standard	NM_018704	Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1617T>C	1.37:g.112999731T>C		B3KMS5|Q96B40	ENST00000271277.6	37	CCDS845.1																																																																																			CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1		108.759345	0	-14	82	0	0	1	0	NM_018704	37	109.019271	47	0.440476
DNER	92737	broad.mit.edu	hg19	2	230231716	230231716	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:230231716C>T	ENST00000341772.4	-	12	2109	c.1975G>A	c.(1975-1977)Gtg>Atg	p.V659M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	659		central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	CAAATCCCCACGATCAGGATG	0.557	0	60.0	49.0	53.0	2	230231716	2203	4300	6503	SO:0001583	missense	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957		24456	protein-coding gene	gene with protein product		607299			11950833, 11997712	Standard	NM_139072	Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1975G>A	2.37:g.230231716C>T	ENSP00000345229:p.Val659Met	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	ENST00000341772.4	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929003	0.92389	0.0	1.16E-4	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86366	-2.11	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87795	0.2621	10	0.31617	T	0.26	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	659	Q8NFT8	DNER_HUMAN	M	659;377	ENSP00000345229:V659M	ENSP00000345229:V659M	V	-	1	0	DNER	229939960	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.397000	0.79903	2.760000	0.94817	0.551000	0.68910	GTG	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1		18.346161	0	8	29	0	0	1	0	NM_139072	6	18.669813	11	0.352941
THSD4	79875	broad.mit.edu	hg19	15	72063481	72063481	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr15:72063481T>G	ENST00000355327.3	+	17	2982	c.2848T>G	c.(2848-2850)Tgt>Ggt	p.C950G	THSD4_ENST00000357769.4_Missense_Mutation_p.C590G|THSD4_ENST00000261862.6_Missense_Mutation_p.C950G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	950	TSP type-1 6.		proteinaceous extracellular matrix	metalloendopeptidase activity	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42					AAGTAACCTCTGTGACCCTCA	0.488	0	158.0	150.0	153.0	15	72063481	1883	4111	5994	SO:0001583	missense	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720		25835	protein-coding gene	gene with protein product		614476			19734141	Standard	NM_001286429	Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2848T>G	15.37:g.72063481T>G	ENSP00000347484:p.Cys950Gly	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	ENST00000355327.3	37	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457252	0.84317	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.69175	-0.38;-0.38;-0.38	5.05	5.05	0.67936	.	.	.	.	.	D	0.84911	0.5577	H	0.97806	4.08	0.80722	D	1	P;P	0.42296	0.775;0.775	P;P	0.52031	0.688;0.688	D	0.89027	0.3439	9	0.62326	D	0.03	.	12.7715	0.57423	0.0:0.0:0.0:1.0	.	590;950	B4DR13;Q6ZMP0	.;THSD4_HUMAN	G	950;950;590	ENSP00000347484:C950G;ENSP00000261862:C950G;ENSP00000350413:C590G	ENSP00000261862:C950G	C	+	1	0	THSD4	69850535	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.856000	0.86956	1.907000	0.55213	0.455000	0.32223	TGT	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2		154.906130	0	-25	96	0	0	1	0	NM_024817	51	155.494831	69	0.425000
CGNL1	84952	broad.mit.edu	hg19	15	57837822	57837822	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr15:57837822G>A	ENST00000281282.5	+	17	3611	c.3533G>A	c.(3532-3534)cGg>cAg	p.R1178Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1178			myosin complex|tight junction	motor activity	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	AGCAACCGGCGGCTGGAGCGG	0.597	0	50.0	40.0	43.0	15	57837822	2192	4292	6484	SO:0001583	missense	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849		25931	protein-coding gene	gene with protein product		607856			11214970	Standard	NM_001252335	Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3533G>A	15.37:g.57837822G>A	ENSP00000281282:p.Arg1178Gln	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180297	0.94846	.	.	ENSG00000128849	ENST00000281282	T	0.80304	-1.36	5.39	5.39	0.77823	Myosin tail (1);	0.000000	0.48767	D	0.000163	D	0.87752	0.6256	L	0.58583	1.82	0.50632	D	0.999888	D	0.65815	0.995	D	0.66602	0.945	D	0.87402	0.2370	10	0.49607	T	0.09	-35.3467	19.1895	0.93658	0.0:0.0:1.0:0.0	.	1178	Q0VF96	CGNL1_HUMAN	Q	1178	ENSP00000281282:R1178Q	ENSP00000281282:R1178Q	R	+	2	0	CGNL1	55625114	1.000000	0.71417	0.954000	0.39281	0.994000	0.84299	4.809000	0.62591	2.526000	0.85167	0.563000	0.77884	CGG	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2		18.045608	0	0	24	0	0	1	0	NM_032866	6	18.369507	11	0.352941
SEMA5A	9037	hgsc.bcm.edu	hg19	5	9054213	9054213	+	Missense_Mutation	SNP	G	G	A	rs140400463	by1000genomes	TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f																										GCAGGGCTGCGTGTTGCAGAG	0.542	0	78.0	74.0	76.0	5	9054213	2203	4300	6503	SO:0001583	missense	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902	"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF	8817451, 9464278	Standard	NM_003966	Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2675C>T	5.37:g.9054213G>A	ENSP00000371936:p.Thr892Met	D3DTC6|O60408|Q1RLL9	ENST00000382496.5	37	CCDS3875.1	3	0.0013736263736263737	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	0	0.0	G	15.53	2.861989	0.51482	0.0	2.33E-4	ENSG00000112902	ENST00000382496	T	0.48836	0.8	5.48	5.48	0.80851	.	0.046532	0.85682	D	0.000000	T	0.55816	0.1944	M	0.63208	1.945	0.51767	D	0.999936	D	0.76494	0.999	D	0.69307	0.963	T	0.53265	-0.8463	10	0.18710	T	0.47	.	17.1979	0.86898	0.0:0.0:1.0:0.0	.	892	Q13591	SEM5A_HUMAN	M	892	ENSP00000371936:T892M	ENSP00000371936:T892M	T	-	2	0	SEMA5A	9107213	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	7.485000	0.81204	2.722000	0.93159	0.561000	0.74099	ACG	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2				9	63						6		70	
SLC22A5	6584	broad.mit.edu	hg19	5	131714157	131714157	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:131714157G>T	ENST00000245407.3	+	2	702	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W	SLC22A5_ENST00000435065.2_Missense_Mutation_p.G185W	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	161		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CTTCATTTCAGGGCAGCTGTC	0.552	0	220.0	211.0	214.0	5	131714157	2203	4300	6503	SO:0001583	missense	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375	"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP	9618255, 9916797, 9685390	Standard	NM_003060	Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.481G>T	5.37:g.131714157G>T	ENSP00000245407:p.Gly161Trp	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	ENST00000245407.3	37	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561722	0.65538	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	T;T;T	0.74002	-0.8;-0.8;-0.8	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	H	0.99182	4.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95343	0.8440	10	0.87932	D	0	.	20.0314	0.97540	0.0:0.0:1.0:0.0	.	185;161	A2Q0V1;O76082	.;S22A5_HUMAN	W	161;185;84	ENSP00000245407:G161W;ENSP00000402760:G185W;ENSP00000388838:G84W	ENSP00000245407:G161W	G	+	1	0	SLC22A5	131742056	1.000000	0.71417	0.992000	0.48379	0.269000	0.26545	9.242000	0.95408	2.802000	0.96397	0.561000	0.74099	GGG	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1		188.258769	1	-22	159	0	3.84483e-29	1	5.02786e-29	NM_003060	63	190.381284	103	0.379518
PTK7	0	broad.mit.edu	hg19	6	43111198	43111198	+	Silent	SNP	C	C	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr6:43111198C>G	ENST00000230419.4	+	14	2312	c.2091C>G	c.(2089-2091)ccC>ccG	p.P697P	PTK7_ENST00000349241.2_Silent_p.P567P|PTK7_ENST00000481273.1_Silent_p.P705P|PTK7_ENST00000345201.2_Silent_p.P657P|PTK7_ENST00000352931.2_Silent_p.P641P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	697		actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		GCAGCCCTCCCCCCTACAAGA	0.602	0	74.0	76.0	75.0	6	43111198	2203	4300	6503	SO:0001819	synonymous_variant	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""		7478540	Standard	NM_002821	Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2091C>G	6.37:g.43111198C>G		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	ENST00000230419.4	37	CCDS4884.1																																																																																			PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2		72.052668	0	4	94	0	0	1	0		25	73.422614	46	0.352113
TIMM50	92609	broad.mit.edu	hg19	19	39971353	39971368	+	Frame_Shift_Del	DEL	TGCGGCAATCCGCCCG	TGCGGCAATCCGCCCG	-			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr19:39971353_39971368delTGCGGCAATCCGCCCG	ENST00000314349.4	+	1	302_317	c.169_184delTGCGGCAATCCGCCCG	c.(169-186)tgcggcaatccgcccgatfs	p.CGNPPD57fs		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	33		mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		CAAACGCGCCTGCGGCAATCCGCCCGATGCCTTTGG	0.667	0									SO:0001589	frameshift_variant	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""		12437925	Standard	NM_001001563	Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000314349.4:c.169_184delTGCGGCAATCCGCCCG	19.37:g.39971353_39971368delTGCGGCAATCCGCCCG	ENSP00000318115:p.Cys57fs	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	ENST00000314349.4	37	CCDS33023.1																																																																																			TIMM50-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464935.1	.	.		-8	37					NM_001001563	6		13	0.32