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
SCN11A	11280	broad.mit.edu	hg19	3	38913708	38913708	+	Silent	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr3:38913708C>T	ENST00000450244.1	-	20	3669	c.3471G>A	c.(3469-3471)gcG>gcA	p.A1157A	SCN11A_ENST00000444237.2_Silent_p.A1157A|SCN11A_ENST00000456224.3_Silent_p.A1119A|SCN11A_ENST00000302328.3_Silent_p.A1157A			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1157		response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	ACTGGGACAGCGCACGAAGAG	0.478	0	163.0	158.0	160.0	3	38913708	2203	4300	6503	SO:0001819	synonymous_variant	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356	"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A	10444332, 16382098	Standard	NM_014139	Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3471G>A	3.37:g.38913708C>T		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	ENST00000302328.3	37	CCDS33737.1																																																																																			SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		192.599797	0	-62	144	0	0	1	0	NM_014139	60	192.599797	60	0.500000
C2orf16	84226	broad.mit.edu	hg19	2	27804422	27804422	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:27804422C>A	ENST00000408964.2	+	1	5034	c.4983C>A	c.(4981-4983)agC>agA	p.S1661R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1661	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)				CAGAGAGAAGCCATCGCAGTT	0.582	0	159.0	161.0	161.0	2	27804422	1904	4127	6031	SO:0001583	missense	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843		25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""					Standard	NM_032266	Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4983C>A	2.37:g.27804422C>A	ENSP00000386190:p.Ser1661Arg	B9EIQ4|Q53S01|Q8ND64|Q9H088	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	7.587	0.669947	0.14776	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	3.1	-1.3	0.09259	.	.	.	.	.	T	0.05640	0.0148	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38112	-0.9676	9	0.48119	T	0.1	.	3.7016	0.08384	0.3288:0.4636:0.0:0.2076	.	1661	Q68DN1	CB016_HUMAN	R	1661	ENSP00000386190:S1661R	ENSP00000386190:S1661R	S	+	3	2	C2orf16	27657926	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.378000	0.00492	-0.487000	0.06735	-2.225000	0.00294	AGC	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		16.434163	1	-2	292	0	4.14922e-12	1	4.40068e-12	NM_032266	15	34.391393	111	0.119048
TAF15	8148	broad.mit.edu	hg19	17	34173974	34173974	+	Silent	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr17:34173974C>T	ENST00000592237.1	+	19	1747	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	TAF15_ENST00000311979.3_3'UTR|TAF15_ENST00000588240.1_3'UTR			Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0	Arg/Gly-rich.	positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	GTTCCTTTGTCTCTGACATGA	0.393	0	115.0	108.0	111.0	17	34173974	2203	4300	6503	SO:0001819	synonymous_variant	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647	"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N	8954779, 9795213	Standard	NM_003487	Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000592237.1:c.1218C>T	17.37:g.34173974C>T		D3DPM5|Q15775|Q5T077	ENST00000592237.1	37																																																																																				TAF15-006	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000449142.1		89.199687	0	-11	89	0	0	1	0	NM_139215	28	89.203609	27	0.509091
LMO3	55885	broad.mit.edu	hg19	12	16753678	16753678	+	Silent	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr12:16753678C>T	ENST00000320122.6	-	2	639	c.117G>A	c.(115-117)aaG>aaA	p.K39K	LMO3_ENST00000534946.1_Silent_p.K39K|LMO3_ENST00000354662.1_Silent_p.K39K|LMO3_ENST00000540445.1_Silent_p.K39K|LMO3_ENST00000261169.6_Silent_p.K50K|LMO3_ENST00000541295.1_Silent_p.K57K|LMO3_ENST00000441439.2_Silent_p.K39K|LMO3_ENST00000537568.1_5'UTR|LMO3_ENST00000540848.1_Silent_p.K39K|LMO3_ENST00000535535.1_Silent_p.K39K|LMO3_ENST00000537304.1_Silent_p.K39K|LMO3_ENST00000447609.1_Silent_p.K39K|LMO3_ENST00000541846.1_Silent_p.K39K	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	39	LIM zinc-binding 1.	regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding	endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)			AGCAGGCACACTTCAGGCAGT	0.498	0	154.0	133.0	140.0	12	16753678	2203	4300	6503	SO:0001819	synonymous_variant	BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540		6643	protein-coding gene	gene with protein product		180386		RBTNL2	11489251	Standard	NM_018640	Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000540445.1:c.117G>A	12.37:g.16753678C>T		B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	ENST00000540445.1	37	CCDS58210.1																																																																																			LMO3-007	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401289.1		97.719904	0	-11	75	0	0	1	0	NM_018640	31	97.772668	35	0.469697
DENND3	22898	broad.mit.edu	hg19	8	142161751	142161751	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr8:142161751G>A	ENST00000519811.1	+	7	959	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	DENND3_ENST00000262585.2_Missense_Mutation_p.V217I|DENND3_ENST00000424248.1_Missense_Mutation_p.V217I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	217					breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)		ACAGCGGATCGTCTTCTTCTC	0.542	0	150.0	121.0	131.0	8	142161751	2203	4300	6503	SO:0001583	missense	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339	"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product					10048485	Standard	NM_014957	Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000519811.1:c.889G>A	8.37:g.142161751G>A	ENSP00000428714:p.Val297Ile	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	ENST00000519811.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.52|19.52	3.842905|3.842905	0.71488|0.71488	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986	.|T;T;T;T	.|0.07800	.|3.16;3.16;3.16;3.16	5.38|5.38	5.38|5.38	0.77491|0.77491	.|DENN (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.21801|0.21801	0.0525|0.0525	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.992	T|T	0.01679|0.01679	-1.1297|-1.1297	5|10	.|0.25106	.|T	.|0.35	-16.2549|-16.2549	19.1045|19.1045	0.93287|0.93287	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|297;217	.|E9PF32;A2RUS2	.|.;DEND3_HUMAN	H|I	273|217;217;297;219	.|ENSP00000262585:V217I;ENSP00000410594:V217I;ENSP00000428714:V297I;ENSP00000429780:V219I	.|ENSP00000262585:V217I	R|V	+|+	2|1	0|0	DENND3|DENND3	142230933|142230933	1.000000|1.000000	0.71417|0.71417	0.752000|0.752000	0.31206|0.31206	0.181000|0.181000	0.23173|0.23173	9.107000|9.107000	0.94261|0.94261	2.506000|2.506000	0.84524|0.84524	0.563000|0.563000	0.77884|0.77884	CGT|GTC	DENND3-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380189.3		32.080874	0	-27	101	0	0	1	0	NM_014957	20	48.763545	118	0.144928
KLHL15	80311	broad.mit.edu	hg19	X	24007013	24007013	+	Silent	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chrX:24007013C>T	ENST00000328046.8	-	4	1095	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	280					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22					CTGTAGTTTGCGGTTTTGCAG	0.433	0	108.0	101.0	103.0	X	24007013	2203	4300	6503	SO:0001819	synonymous_variant	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010	"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""		11214970, 14702039	Standard	NM_030624	Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.840G>A	X.37:g.24007013C>T		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	ENST00000328046.8	37	CCDS35217.1																																																																																			KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1		-28.031389	0	-9	182	0	0	1	0	XM_040383	4	7.665853	141	0.027586
GNAQ	2776	broad.mit.edu	hg19	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302					CTCTGACCTTTGGCCCCCTAC	0.348	153	108.0	105.0	106.0	9	80409488	2203	4300	6503	SO:0001583	missense		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052		4390	protein-coding gene	gene with protein product		600998			8825633	Standard	NM_002072	Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		137.879886	0	-22	90	0	0	1	0	NM_002072	41	137.982794	35	0.539474
GTDC1	79712	broad.mit.edu	hg19	2	144966218	144966218	+	Missense_Mutation	SNP	G	G	A	rs115723847	by1000genomes	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:144966218G>A	ENST00000392869.2	-	3	283	c.131C>T	c.(130-132)aCa>aTa	p.T44I	GTDC1_ENST00000409214.1_Missense_Mutation_p.T44I|GTDC1_ENST00000392867.3_Missense_Mutation_p.T44I|GTDC1_ENST00000542155.1_Missense_Mutation_p.T44I|GTDC1_ENST00000241391.5_Missense_Mutation_p.T44I|GTDC1_ENST00000409298.1_Missense_Mutation_p.T44I|GTDC1_ENST00000344850.4_Missense_Mutation_p.T44I|GTDC1_ENST00000463875.2_Intron	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1			biosynthetic process		transferase activity, transferring glycosyl groups	central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)	TAAAGCAGATGTCCGGGCTCT	0.428	0	86.0	86.0	86.0	2	144966218	2203	4300	6503	SO:0001583	missense	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964	"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165			15068588, 21821951	Standard	NM_024659	Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.131C>T	2.37:g.144966218G>A	ENSP00000376608:p.Thr44Ile	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	ENST00000392869.2	37	CCDS33300.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.7	4.666378	0.88251	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	6.08	6.08	0.98989	Glycosyltransferase family 1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.958;1.0;1.0;1.0	P;D;D;D	0.91635	0.693;0.993;0.999;0.991	T	0.65660	-0.6114	10	0.52906	T	0.07	0.0079	20.6634	0.99662	0.0:0.0:1.0:0.0	.	44;44;44;44	Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	I	44	ENSP00000376608:T44I;ENSP00000386581:T44I;ENSP00000376606:T44I;ENSP00000386691:T44I;ENSP00000438323:T44I;ENSP00000241391:T44I;ENSP00000339750:T44I;ENSP00000403869:T44I;ENSP00000400661:T44I	ENSP00000241391:T44I	T	-	2	0	GTDC1	144682688	1.000000	0.71417	0.982000	0.44146	0.852000	0.48524	9.320000	0.96346	2.894000	0.99253	0.655000	0.94253	ACA	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2		16.671035	0	0	64	0	0	1	0	NM_024659	8	21.288097	38	0.173913
NCF2	4688	broad.mit.edu	hg19	1	183529380	183529380	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr1:183529380T>G	ENST00000413720.1	-	13	1458	c.1184A>C	c.(1183-1185)aAg>aCg	p.K395T	NCF2_ENST00000469280.1_Intron|NCF2_ENST00000367535.3_Missense_Mutation_p.K440T|NCF2_ENST00000418089.1_Missense_Mutation_p.K359T|NCF2_ENST00000367536.1_Missense_Mutation_p.K440T	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	440	OPR.	cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					TTCACTTTCCTTGGGTTCATC	0.438	0	217.0	201.0	207.0	1	183529380	2203	4300	6503	SO:0001583	missense	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701	"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""			Standard	NM_000433	Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1319A>C	1.37:g.183529380T>G	ENSP00000356505:p.Lys440Thr	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	ENST00000367535.3	37	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.922659	0.33908	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.70749	-0.51;-0.16;-0.05;-0.51	5.18	2.71	0.32032	Src homology-3 domain (1);	0.788960	0.11865	N	0.522014	T	0.58481	0.2125	L	0.47716	1.5	0.09310	N	1	B;B;B	0.24823	0.001;0.112;0.036	B;B;B	0.26416	0.001;0.069;0.021	T	0.43376	-0.9395	10	0.14656	T	0.56	-16.6308	5.4961	0.16804	0.3006:0.0:0.1559:0.5435	.	359;395;440	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	T	440;512;395;359;440	ENSP00000356506:K440T;ENSP00000399294:K395T;ENSP00000407217:K359T;ENSP00000356505:K440T	ENSP00000356505:K440T	K	-	2	0	NCF2	181796003	0.001000	0.12720	0.002000	0.10522	0.919000	0.55068	0.822000	0.27352	0.241000	0.21283	0.533000	0.62120	AAG	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1		101.571981	0	-20	166	0	0	1	0	NM_000433	34	102.830670	57	0.373626
PEX26	55670	ucsc.edu	hg19	22	18566443	18566443	+	Silent	SNP	G	G	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e																										CAGCGAGGCAGCAGCAGAAAC	0.577	0	84.0	79.0	81.0	22	18566443	2203	4300	6503	SO:0001819	synonymous_variant	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193		22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""		12717447, 12851857	Standard	NM_017929	Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000428061.2:c.612G>A	22.37:g.18566443G>A		F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	ENST00000428061.2	37	CCDS56221.1																																																																																			PEX26-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000314646.1				-4	47					NM_017929	4		33	
NPEPL1	79716	broad.mit.edu	hg19	20	57276201	57276201	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr20:57276201G>A	ENST00000356091.6	+	6	1097	c.809G>A	c.(808-810)aGc>aAc	p.S270N	NPEPL1_ENST00000525967.1_Missense_Mutation_p.S242N|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.S222N	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	270		proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		GGAGGCCTCAGCATCAAAGGG	0.687	0	24.0	24.0	24.0	20	57276201	2037	4189	6226	SO:0001583	missense	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440		16244	protein-coding gene	gene with protein product					14702039	Standard	NM_001204872	Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.809G>A	20.37:g.57276201G>A	ENSP00000348395:p.Ser270Asn	A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	ENST00000356091.6	37	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668192	0.88348	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.48201	0.82;0.82;0.82	5.01	5.01	0.66863	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;1.0;0.961	D;D;D;P	0.81914	0.985;0.975;0.995;0.835	T	0.65829	-0.6073	10	0.41790	T	0.15	-41.2309	15.4714	0.75441	0.0:0.0:1.0:0.0	.	270;222;242;270	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	N	242;222;270	ENSP00000434810:S242N;ENSP00000437112:S222N;ENSP00000348395:S270N	ENSP00000348395:S270N	S	+	2	0	NPEPL1	56709608	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.375000	0.97178	2.313000	0.78055	0.585000	0.79938	AGC	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6		16.476751	0	0	10	0	0	1	0	NM_024663	5	16.586418	3	0.625000
SF3B1	23451	broad.mit.edu	hg19	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)		GTTGTGTTACGGACATACTCA	0.433	5	93.0	90.0	91.0	2	198267484	2203	4300	6503	SO:0001583	missense	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524		10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""		9585501	Standard	XM_005246428	Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys	E9PCH3	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	SF3B1	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		65.565585	0	0	54	0	0	1	0		21	66.064531	32	0.396226
LUC7L2	51631	broad.mit.edu	hg19	7	139026134	139026134	+	Missense_Mutation	SNP	G	G	A	rs75669887		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr7:139026134G>A	ENST00000541515.3	+	1	29	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	C7orf55-LUC7L2_ENST00000541170.3_Intron|C7orf55_ENST00000297534.6_Missense_Mutation_p.A2T|C7orf55_ENST00000481123.1_Intron	NM_001244584.2	NP_001231513.1	Q9Y383	LC7L2_HUMAN	LUC7-like 2 (S. cerevisiae)	0				enzyme binding|metal ion binding	NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)				CAGGACAATGGCGGCCTTAGG	0.657	0	54.0	63.0	60.0	7	139026134	2203	4300	6503	SO:0001583	missense	AF151832	CCDS43656.1, CCDS59085.1, CCDS59510.1	7q34	2013-05-09			ENSG00000269955	ENSG00000269955		21608	protein-coding gene	gene with protein product	"""CGI-74 protein"""	613056			10810093	Standard	NM_001244585	Approved	CGI-74, CGI-59, H_NH0792N18.3, FLJ10657, LUC7B2, hLuc7B2		Q9Y383	OTTHUMG00000185163	ENST00000541515.3:c.4G>A	7.37:g.139026134G>A	ENSP00000440222:p.Ala2Thr	B7Z500|Q8IUP9|Q9NVL3|Q9NVN7|Q9UQN1	ENST00000541515.3	37	CCDS59084.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	24.4	4.529993	0.85706	.	.	ENSG00000164898;ENSG00000146963	ENST00000297534;ENST00000541515	T;T	0.53640	0.61;1.28	5.46	4.58	0.56647	.	0.067803	0.56097	D	0.000025	T	0.48205	0.1487	M	0.68593	2.085	0.49130	D	0.999758	B;B	0.22746	0.02;0.074	B;B	0.20955	0.006;0.032	T	0.51593	-0.8686	10	0.72032	D	0.01	-0.0343	14.2126	0.65773	0.0713:0.0:0.9287:0.0	.	2;2	B7Z4Q3;Q96HJ9	.;CG055_HUMAN	T	2	ENSP00000297534:A2T;ENSP00000440222:A2T	ENSP00000297534:A2T	A	+	1	0	LUC7L2;C7orf55	138676674	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.514000	0.60482	1.546000	0.49388	0.591000	0.81541	GCG	LUC7L2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000469706.1		60.091348	0	-26	49	0	0	1	0	NM_016019	20	60.382398	28	0.416667
PITPNM2	57605	broad.mit.edu	hg19	12	123481386	123481386	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr12:123481386G>T	ENST00000280562.5	-	11	1749	c.1544C>A	c.(1543-1545)cCc>cAc	p.P515H	PITPNM2_ENST00000320201.4_Missense_Mutation_p.P515H|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P236H|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P515H			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	515		metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	GGCCAGCAGGGGGAGGGCAGC	0.637	0	49.0	49.0	49.0	12	123481386	2203	4300	6503	SO:0001583	missense	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975		21044	protein-coding gene	gene with protein product		608920			10022914	Standard	XM_005253582	Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1544C>A	12.37:g.123481386G>T	ENSP00000437611:p.Pro515His	Q9P271	ENST00000542749.1	37	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002812	0.74932	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	4.81	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.82193	2.58	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.55153	-0.8185	10	0.87932	D	0	-17.2931	13.0406	0.58897	0.0784:0.0:0.9216:0.0	.	515;515	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	H	515;515;236;515	ENSP00000280562:P515H;ENSP00000322218:P515H;ENSP00000376223:P236H;ENSP00000437611:P515H	ENSP00000280562:P515H	P	-	2	0	PITPNM2	122047339	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	7.976000	0.88070	1.033000	0.39918	0.460000	0.39030	CCC	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1		54.440222	1	-7	74	0	8.34094e-07	1	8.58626e-07	NM_020845	18	54.446323	19	0.486486
KRT32	3882	broad.mit.edu	hg19	17	39620401	39620401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr17:39620401G>A	ENST00000225899.3	-	5	1028	c.925C>T	c.(925-927)Cag>Tag	p.Q309*		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	309	Coil 2.|Rod.	epidermis development	intermediate filament	protein binding|structural molecule activity	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)			ATGTCTGACTGGTAGTTCTGA	0.577	0	177.0	133.0	148.0	17	39620401	2203	4300	6503	SO:0001587	stop_gained	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759	"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2	7556444, 8823373, 16831889	Standard	NM_002278	Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.925C>T	17.37:g.39620401G>A	ENSP00000225899:p.Gln309*		ENST00000225899.3	37	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	G	36	5.782073	0.96937	.	.	ENSG00000108759	ENST00000225899	.	.	.	5.04	5.04	0.67666	.	0.000000	0.37348	N	0.002139	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	13.4096	0.60935	0.0:0.0:0.8328:0.1672	.	.	.	.	X	309	.	ENSP00000225899:Q309X	Q	-	1	0	KRT32	36873927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.284000	0.43478	2.492000	0.84095	0.655000	0.94253	CAG	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1		59.819754	0	7	56	0	0	1	0	NM_002278	19	59.946346	24	0.441860
RYR3	6263	broad.mit.edu	hg19	15	34103222	34103222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr15:34103222T>A	ENST00000389232.4	+	72	10311	c.10241T>A	c.(10240-10242)tTg>tAg	p.L3414*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.L3409*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3414		cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	CGGAACAACTTGCACTTGCAG	0.478	0	46.0	45.0	46.0	15	34103222	1984	4170	6154	SO:0001587	stop_gained		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903			8276408	Standard	NM_001036	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10241T>A	15.37:g.34103222T>A	ENSP00000373884:p.Leu3414*	O15175|Q15412	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	53	20.138827	0.99927	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6314	0.76912	0.0:0.0:0.0:1.0	.	.	.	.	X	3414;3414;3409	.	ENSP00000354735:L3409X	L	+	2	0	RYR3	31890514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.431000	0.80335	2.094000	0.63399	0.459000	0.35465	TTG	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		8.622836	0	8	16	0	0	1	0		3	8.732633	5	0.375000
PPM1J	333926	ucsc.edu	hg19	1	113255025	113255025	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e																										ACAACCAGTGCACAGCAGCCC	0.622	0	74.0	62.0	66.0	1	113255025	2203	4300	6503	SO:0001583	missense	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""		12633878	Standard	NM_005167	Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.784G>T	1.37:g.113255025C>A	ENSP00000308926:p.Ala262Ser	B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	ENST00000309276.6	37	CCDS855.2	.	.	.	.	.	.	.	.	.	.	C	34	5.398311	0.96030	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.29142	1.58;1.58	5.61	5.61	0.85477	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.982	T	0.64563	-0.6378	10	0.72032	D	0.01	-13.3802	19.2182	0.93786	0.0:1.0:0.0:0.0	.	262;56	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	S	262;56	ENSP00000308926:A262S;ENSP00000353088:A56S	ENSP00000308926:A262S	A	-	1	0	PPM1J	113056548	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.440000	0.80464	2.643000	0.89663	0.462000	0.41574	GCA	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1				1	37					NM_005167	4		24	
THOC2	57187	broad.mit.edu	hg19	X	122769935	122769935	+	Silent	SNP	G	G	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chrX:122769935G>T	ENST00000245838.8	-	19	2044	c.2013C>A	c.(2011-2013)ggC>ggA	p.G671G	THOC2_ENST00000355725.4_Silent_p.G671G|THOC2_ENST00000491737.1_Silent_p.G556G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	671		intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63					AATACCTTTTGCCCGCCTTTA	0.363	0	92.0	77.0	81.0	X	122769935	1822	4075	5897	SO:0001819	synonymous_variant	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676	"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3	11979277	Standard	NM_001081550	Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2013C>A	X.37:g.122769935G>T		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	ENST00000245838.8	37	CCDS43988.1																																																																																			THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		111.595349	1	-9	78	0	5.43694e-19	1	5.94665e-19		36	111.607161	38	0.486486
MPP3	4356	ucsc.edu	hg19	17	41909266	41909266	+	Silent	SNP	C	C	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e																										CCTCCGATAGCACTGGCATGC	0.587	0	33.0	38.0	37.0	17	41909266	1958	4139	6097	SO:0001819	synonymous_variant		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647		7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3	8824795	Standard	NR_003562	Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.9G>T	17.37:g.41909266C>A		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	ENST00000398389.4	37	CCDS42344.1																																																																																			MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1				-5	29					NM_001932	4		28	
OR6K3	391114	broad.mit.edu	hg19	1	158686997	158686997	+	Silent	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr1:158686997C>T	ENST00000368146.1	-	1	956	c.957G>A	c.(955-957)ctG>ctA	p.L319L	OR6K3_ENST00000368145.1_Silent_p.L303L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	319		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)				GAAGACAGAACAGTTTTTTAA	0.388	0	125.0	128.0	127.0	1	158686997	2203	4300	6503	SO:0001819	synonymous_variant	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757	"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product						Standard	NM_001005327	Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368145.1:c.909G>A	1.37:g.158686997C>T		Q5VUV0|Q6IFR5	ENST00000368145.1	37	CCDS30903.2																																																																																			OR6K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059063.1		102.372283	0	-8	116	0	0	1	0		33	102.400542	36	0.478261
SAP130	79595	broad.mit.edu	hg19	2	128775359	128775359	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:128775359C>A	ENST00000357702.5	-	3	452	c.321G>T	c.(319-321)ttG>ttT	p.L107F	SAP130_ENST00000259234.6_Missense_Mutation_p.L81F|SAP130_ENST00000259235.3_Missense_Mutation_p.L107F	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	107		histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)	GGTGTGTCGACAACATCTGCA	0.582	0	149.0	126.0	134.0	2	128775359	2203	4300	6503	SO:0001583	missense	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715		29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""		11230166, 12724404	Standard	NM_001145928	Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259234.6:c.243G>T	2.37:g.128775359C>A	ENSP00000259234:p.Leu81Phe	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	ENST00000259234.6	37		.	.	.	.	.	.	.	.	.	.	C	16.86	3.238823	0.58995	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.79	4.92	0.64577	.	0.247403	0.34750	N	0.003714	T	0.59824	0.2222	L	0.32530	0.975	0.44515	D	0.99746	P;D;D	0.71674	0.487;0.997;0.998	B;D;D	0.65010	0.189;0.931;0.914	T	0.54655	-0.8261	9	0.09084	T	0.74	-9.8508	13.0129	0.58741	0.0:0.9254:0.0:0.0746	.	107;81;107	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	F	107;107;81;81;81	.	ENSP00000259234:L81F	L	-	3	2	SAP130	128491829	1.000000	0.71417	0.994000	0.49952	0.719000	0.41307	5.228000	0.65310	1.442000	0.47568	0.585000	0.79938	TTG	SAP130-002	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254437.3		104.473721	1	-46	98	0	3.93418e-24	1	4.44182e-24	NM_024545	36	106.198660	64	0.360000
ROS1	6098	broad.mit.edu	hg19	6	117710788	117710788	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr6:117710788G>A	ENST00000368508.3	-	12	1682	c.1484C>T	c.(1483-1485)cCc>cTc	p.P495L	ROS1_ENST00000368507.3_Missense_Mutation_p.P504L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	495		transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	ATCAGCAAAGGGGATGCGAGG	0.423	0	90.0	81.0	84.0	6	117710788	2203	4300	6503	SO:0001583	missense	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936	"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""		1611909	Standard	NM_002944	Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1484C>T	6.37:g.117710788G>A	ENSP00000357494:p.Pro495Leu	Q15368|Q5TDB5	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039770	0.19669	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90900	-2.75;-2.75	5.92	4.12	0.48240	.	0.571379	0.17934	N	0.157078	T	0.74550	0.3731	N	0.24115	0.695	0.46701	D	0.999164	B	0.09022	0.002	B	0.06405	0.002	T	0.71553	-0.4558	10	0.66056	D	0.02	.	9.5245	0.39156	0.0748:0.1426:0.7826:0.0	.	495	P08922	ROS1_HUMAN	L	495;504	ENSP00000357494:P495L;ENSP00000357493:P504L	ENSP00000357493:P504L	P	-	2	0	ROS1	117817481	0.998000	0.40836	0.183000	0.23137	0.044000	0.14063	2.718000	0.47236	0.829000	0.34733	0.561000	0.74099	CCC	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		70.792554	0	-6	57	0	0	1	0		19	72.939192	1	0.950000
TRAF2	7186	broad.mit.edu	hg19	9	139820173	139820173	+	Silent	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr9:139820173C>T	ENST00000359662.3	+	11	1527	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	TRAF2_ENST00000247668.2_Silent_p.H442H|TRAF2_ENST00000536468.1_Silent_p.H442H			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	442	MATH.	activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	ACCGGGAGCACGTGATTGACG	0.602	0	97.0	73.0	81.0	9	139820173	2203	4300	6503	SO:0001819	synonymous_variant	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191	"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895			7639698	Standard	NM_021138	Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1326C>T	9.37:g.139820173C>T		A8K107|B4DPJ7|Q7Z337|Q96NT2	ENST00000247668.2	37	CCDS7013.1																																																																																			TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1		51.535277	0	-11	64	0	0	1	0	NM_021138	18	52.507637	33	0.352941
KIAA1024	23251	broad.mit.edu	hg19	15	79760547	79760547	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr15:79760547C>T	ENST00000305428.3	+	4	2647	c.2572C>T	c.(2572-2574)Cca>Tca	p.P858S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	858			integral to membrane		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49					ATCTTTAAACCCAAATAATTT	0.388	0	38.0	34.0	35.0	15	79760547	2196	4293	6489	SO:0001583	missense	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330		29172	protein-coding gene	gene with protein product					10470851	Standard	NM_015206	Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2572C>T	15.37:g.79760547C>T	ENSP00000307461:p.Pro858Ser	A7MD43	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812684	0.70912	.	.	ENSG00000169330	ENST00000305428	T	0.63744	-0.06	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.78898	0.4356	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77088	-0.2717	9	.	.	.	.	19.7863	0.96440	0.0:1.0:0.0:0.0	.	858	Q9UPX6	K1024_HUMAN	S	858	ENSP00000307461:P858S	.	P	+	1	0	KIAA1024	77547602	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	7.456000	0.80751	2.665000	0.90641	0.655000	0.94253	CCA	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1		41.370463	0	-15	36	0	0	1	0	NM_015206	13	41.546242	18	0.419355
C2orf16	84226	broad.mit.edu	hg19	2	27804437	27804437	+	Silent	SNP	T	T	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:27804437T>A	ENST00000408964.2	+	1	5049	c.4998T>A	c.(4996-4998)tcT>tcA	p.S1666S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1666	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)				GCAGTTCCTCTGAGAGAAGAC	0.577	0	153.0	156.0	155.0	2	27804437	1905	4118	6023	SO:0001819	synonymous_variant	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843		25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""					Standard	NM_032266	Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4998T>A	2.37:g.27804437T>A		B9EIQ4|Q53S01|Q8ND64|Q9H088	ENST00000408964.2	37	CCDS42666.1																																																																																			C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		37.446423	0	-1	280	0	0	1	0	NM_032266	19	51.252151	103	0.155738
RNF43	54894	broad.mit.edu	hg19	17	56435332	56435332	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr17:56435332T>C	ENST00000584437.1	-	8	3760	c.1805A>G	c.(1804-1806)aAc>aGc	p.N602S	RNF43_ENST00000577716.1_Missense_Mutation_p.N602S|RNF43_ENST00000500597.2_Missense_Mutation_p.N561S|RNF43_ENST00000577625.1_Missense_Mutation_p.N475S|RNF43_ENST00000583753.1_Missense_Mutation_p.N561S|RNF43_ENST00000581868.1_Missense_Mutation_p.N475S|RNF43_ENST00000407977.2_Missense_Mutation_p.N602S|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	602	Pro-rich.		endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)				GGCTGCTGAGTTGGATCTGGT	0.657	0	57.0	69.0	65.0	17	56435332	2203	4299	6502	SO:0001583	missense		CCDS11607.1	17q23.2	2013-01-09					"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482				Standard	NM_017763	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1805A>G	17.37:g.56435332T>C	ENSP00000463069:p.Asn602Ser	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	T	2.674	-0.276978	0.05679	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.16897	2.31;2.31	5.18	-1.62	0.08372	.	1.287800	0.04918	N	0.454417	T	0.06872	0.0175	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.27297	-1.0078	10	0.05833	T	0.94	-9.4984	0.8	0.01074	0.1725:0.2915:0.1572:0.3788	.	561;602;602	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	S	602;561	ENSP00000385328:N602S;ENSP00000441969:N561S	ENSP00000385328:N602S	N	-	2	0	RNF43	53790331	0.814000	0.29104	0.003000	0.11579	0.140000	0.21249	0.357000	0.20199	0.006000	0.14734	0.172000	0.16884	AAC	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1		133.428577	0	-27	90	0	0	1	0	NM_017763	43	135.021007	72	0.373913
ADRBK1	156	broad.mit.edu	hg19	11	67051341	67051342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr11:67051341_67051342insC	ENST00000308595.5	+	17	1702_1703	c.1412_1413insC	c.(1411-1416)atccccfs	p.IP471fs	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	471	AGC-kinase C-terminal.	activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		CCCCCGCTGATCCCCCCACGAG	0.634	0									SO:0001589	frameshift_variant	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020	"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635			2037065	Standard	NM_001619	Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1418dupC	11.37:g.67051347_67051347dupC	ENSP00000312262:p.Ile471fs	B0ZBE1|Q13837|Q6GTT3	ENST00000308595.5	37	CCDS8156.1																																																																																			ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	.	.		10	31					NM_001619	2		4	0.33
PRSS50	29122	broad.mit.edu	hg19	3	46755884	46755901	+	In_Frame_Del	DEL	CGGTACCTGCTATGCATG	CGGTACCTGCTATGCATG	-	rs142097717	byFrequency	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr3:46755884_46755901delCGGTACCTGCTATGCATG	ENST00000460241.1	-	9	2231_2248	c.561_578delCATGCATAGCAGGTACCG	c.(559-579)atcatgcatagcaggtaccgg>atg	p.187_193IMHSRYR>M	PRSS50_ENST00000315170.7_In_Frame_Del_p.187_193IMHSRYR>M			Q9UI38	TSP50_HUMAN	protease, serine, 50	187	Peptidase S1.	proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11					CCGCTGGGCCCGGTACCTGCTATGCATGATGACCTGGA	0.610	0									SO:0001651	inframe_deletion	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549	"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950			10397268	Standard	NM_013270	Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.561_578delCATGCATAGCAGGTACCG	3.37:g.46755884_46755901delCGGTACCTGCTATGCATG	ENSP00000418875:p.Ile187_Arg193delinsMet		ENST00000460241.1	37	CCDS2745.1																																																																																			PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1	.	.		1	18						2		4	0.33