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
FAM214A	56204	broad.mit.edu	hg19	15	52903343	52903343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr15:52903343G>A	ENST00000261844.7	-	5	666	c.514C>T	c.(514-516)Cga>Tga	p.R172*	FAM214A_ENST00000546305.2_Nonsense_Mutation_p.R179*	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	172											AGAATATTTCGTGGAATAGCA	0.413	0	120.0	117.0	118.0	15	52903343	1868	4107	5975	SO:0001587	stop_gained	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346		25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370	10718198	Standard	XM_005254547	Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.514C>T	15.37:g.52903343G>A	ENSP00000261844:p.Arg172*	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	G	35	5.541354	0.96474	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	.	.	.	6.17	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9456	0.86229	0.0:0.0:0.8711:0.1289	.	.	.	.	X	172;172;171;179	.	ENSP00000261844:R172X	R	-	1	2	KIAA1370	50690635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.702000	0.47102	1.602000	0.50124	0.655000	0.94253	CGA	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1		19.976668	0	12	91	0	0	1	0	NM_019600	11	28.741902	63	0.148649
PAPPA2	60676	broad.mit.edu	hg19	1	176563716	176563716	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr1:176563716C>T	ENST00000367662.3	+	3	2140	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R326C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	326		cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226					CCTGGGGATCCGCTCAGGGAA	0.537	2	51.0	51.0	51.0	1	176563716	1979	4160	6139	SO:0001583	missense	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183		14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3	11018262, 11264294	Standard	NM_021936	Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.976C>T	1.37:g.176563716C>T	ENSP00000356634:p.Arg326Cys	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947902	0.73787	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.74209	-0.82;-0.82	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.111801	0.64402	D	0.000007	D	0.83806	0.5334	M	0.68593	2.085	0.51767	D	0.999937	D;D	0.89917	0.999;1.0	P;D	0.67900	0.901;0.954	D	0.85377	0.1117	10	0.87932	D	0	-19.5477	14.6197	0.68574	0.1464:0.8536:0.0:0.0	.	326;326	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	C	326	ENSP00000356634:R326C;ENSP00000356633:R326C	ENSP00000356633:R326C	R	+	1	0	PAPPA2	174830339	0.017000	0.18338	1.000000	0.80357	0.983000	0.72400	1.902000	0.39848	2.555000	0.86185	0.650000	0.86243	CGC	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		41.703860	0	10	63	0	0	1	0		15	43.944299	38	0.283019
ASB6	140459	broad.mit.edu	hg19	9	132400196	132400196	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr9:132400196C>T	ENST00000277458.4	-	6	1304	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	ASB6_ENST00000450050.2_Missense_Mutation_p.R301H|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	380	SOCS box.	intracellular signal transduction	cytoplasm		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)			GATGGCCACACGGCACAGGTG	0.622	0	49.0	49.0	49.0	9	132400196	2203	4300	6503	SO:0001583	missense		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331	"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""			Standard	NM_017873	Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.1139G>A	9.37:g.132400196C>T	ENSP00000277458:p.Arg380His	Q5SZB7|Q9BV15	ENST00000277458.4	37	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392911	0.83011	0.0	1.16E-4	ENSG00000148331	ENST00000277458;ENST00000450050	D;D	0.85861	-2.04;-2.04	5.06	4.13	0.48395	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.64687	0.928;0.928;0.928	D	0.90727	0.4639	10	0.59425	D	0.04	-34.9039	14.1624	0.65454	0.1497:0.8503:0.0:0.0	.	301;380;380	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	H	380;301	ENSP00000277458:R380H;ENSP00000416172:R301H	ENSP00000277458:R380H	R	-	2	0	ASB6	131440017	0.999000	0.42202	0.921000	0.36526	0.826000	0.46750	4.145000	0.58065	2.635000	0.89317	0.462000	0.41574	CGT	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1		56.780252	0	23	64	0	0	1	0	NM_017873	17	56.968595	12	0.586207
SPTA1	6708	broad.mit.edu	hg19	1	158612731	158612731	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr1:158612731C>T	ENST00000368147.4	-	32	4658	c.4478G>A	c.(4477-4479)cGg>cAg	p.R1493Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)			actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)				AAGCTTTGTCCGCTCATCAAT	0.507	0	128.0	117.0	121.0	1	158612731	1990	4169	6159	SO:0001583	missense	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""			Standard	NM_003126	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4478G>A	1.37:g.158612731C>T	ENSP00000357129:p.Arg1493Gln	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429834	0.43122	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	5.2	-3.76	0.04359	.	0.695078	0.11044	N	0.605789	T	0.31544	0.0800	M	0.64997	1.995	0.09310	N	1	D	0.67145	0.996	P	0.59012	0.85	T	0.16837	-1.0389	10	0.26408	T	0.33	.	4.1679	0.10315	0.0966:0.4825:0.091:0.3299	.	1493	P02549	SPTA1_HUMAN	Q	1493	ENSP00000357130:R1493Q;ENSP00000357129:R1493Q	ENSP00000357129:R1493Q	R	-	2	0	SPTA1	156879355	0.015000	0.18098	0.000000	0.03702	0.009000	0.06853	0.767000	0.26575	-1.363000	0.02164	-0.797000	0.03246	CGG	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		127.560244	0	3	87	0	0	1	0	NM_003126	38	127.824042	29	0.567164
PPP2R1A	5518	broad.mit.edu	hg19	19	52724255	52724255	+	Missense_Mutation	SNP	A	A	C			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr19:52724255A>C	ENST00000322088.6	+	12	1445	c.1387A>C	c.(1387-1389)Acc>Ccc	p.T463P	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.T408P|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.T284P	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	463	PP2A subunit C binding.	ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	CGAGGCAGCCACCAGCAACCT	0.537	0	107.0	98.0	101.0	19	52724255	2203	4300	6503	SO:0001583	missense		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""			Standard	NR_033500	Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1387A>C	19.37:g.52724255A>C	ENSP00000324804:p.Thr463Pro	Q13773|Q6ICQ3|Q96DH3	ENST00000322088.6	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100738	0.76983	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.18016	2.24;2.24	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000012	T	0.33147	0.0853	M	0.87827	2.91	0.58432	D	0.999998	P;B	0.36065	0.535;0.067	B;B	0.43360	0.417;0.035	T	0.29181	-1.0020	10	0.87932	D	0	-41.0631	12.1013	0.53785	1.0:0.0:0.0:0.0	.	408;463	F5H3X9;P30153	.;2AAA_HUMAN	P	453;383;463;408	ENSP00000324804:T463P;ENSP00000415067:T408P	ENSP00000324804:T463P	T	+	1	0	PPP2R1A	57416067	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.373000	0.90131	2.026000	0.59711	0.533000	0.62120	ACC	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2		49.695932	0	8	84	0	0	1	0	NM_014225	16	49.792622	20	0.444444
SDE2	163859	broad.mit.edu	hg19	1	226179008	226179008	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr1:226179008G>A	ENST00000272091.7	-	5	595	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)												GGCCATTGCCGTTTCCGATTC	0.438	0	110.0	105.0	106.0	1	226179008	1940	4159	6099	SO:0001583	missense	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751		26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55	21333630	Standard	NM_152608	Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.577C>T	1.37:g.226179008G>A	ENSP00000272091:p.Arg193Trp	A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	ENST00000272091.7	37	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031833	0.54790	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.59364	0.57;0.27	5.85	3.95	0.45737	.	0.104425	0.64402	D	0.000005	T	0.73860	0.3641	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76804	-0.2824	10	0.87932	D	0	-23.9175	15.3002	0.73945	0.0:0.0:0.7441:0.2559	.	181;193	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	W	193;181;98	ENSP00000272091:R193W;ENSP00000355782:R98W	ENSP00000272091:R193W	R	-	1	2	C1orf55	224245631	1.000000	0.71417	0.985000	0.45067	0.113000	0.19764	2.713000	0.47194	0.785000	0.33685	0.557000	0.71058	CGG	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1		-10.235343	0	8	75	0	0	1	0	NM_152608	3	6.300670	70	0.041096
IGSF10	285313	broad.mit.edu	hg19	3	151165887	151165887	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr3:151165887C>T	ENST00000282466.3	-	4	1881	c.1882G>A	c.(1882-1884)Ggc>Agc	p.G628S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	628	Ig-like C2-type 2.	cell differentiation|multicellular organismal development|ossification	extracellular region		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		CTTAATGTGCCATTGTTTAGA	0.418	0	178.0	157.0	164.0	3	151165887	2203	4300	6503	SO:0001583	missense	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580	"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product					12477932	Standard	NM_178822	Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1882G>A	3.37:g.151165887C>T	ENSP00000282466:p.Gly628Ser	Q86YJ9|Q8N772|Q8NA84	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279642	0.59758	.	.	ENSG00000152580	ENST00000282466	T	0.35605	1.3	5.35	4.47	0.54385	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.284299	0.24806	N	0.035443	T	0.61375	0.2342	M	0.85041	2.73	0.46167	D	0.998908	D	0.69078	0.997	D	0.64506	0.926	T	0.66889	-0.5809	10	0.52906	T	0.07	.	13.9244	0.63952	0.0:0.9264:0.0:0.0736	.	628	Q6WRI0	IGS10_HUMAN	S	628	ENSP00000282466:G628S	ENSP00000282466:G628S	G	-	1	0	IGSF10	152648577	1.000000	0.71417	0.102000	0.21198	0.371000	0.29859	4.646000	0.61411	1.248000	0.43934	0.655000	0.94253	GGC	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		42.608711	0	8	116	0	0	1	0	NM_178822	18	47.605276	59	0.233766
PPM1L	151742	broad.mit.edu	hg19	3	160786656	160786656	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr3:160786656G>A	ENST00000498165.1	+	4	895	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	PPM1L_ENST00000295839.9_Missense_Mutation_p.R138Q|PPM1L_ENST00000464260.1_Missense_Mutation_p.R86Q|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	265	PP2C-like.	protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		GCCATGTCTCGGTCCCTGGGG	0.512	0	82.0	80.0	81.0	3	160786656	2203	4300	6503	SO:0001583	missense	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""		12556533	Standard	XM_006713507	Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.794G>A	3.37:g.160786656G>A	ENSP00000417659:p.Arg265Gln	Q2M3J2|Q96NM7	ENST00000498165.1	37	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396248	0.96009	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.59638	0.25;0.25;0.25	5.27	5.27	0.74061	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92512	0.6017	10	0.87932	D	0	.	17.8556	0.88761	0.0:0.0:1.0:0.0	.	138;265	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	Q	265;86;138	ENSP00000417659:R265Q;ENSP00000420746:R86Q;ENSP00000295839:R138Q	ENSP00000295839:R138Q	R	+	2	0	PPM1L	162269350	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	9.447000	0.97595	2.476000	0.83614	0.555000	0.69702	CGG	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1		-3.048509	0	5	50	0	0	1	0	NM_139245	4	9.441278	59	0.063492
NFX1	0	broad.mit.edu	hg19	9	33301353	33301353	+	Missense_Mutation	SNP	A	A	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr9:33301353A>T	ENST00000379540.3	+	3	1188	c.1126A>T	c.(1126-1128)Agc>Tgc	p.S376C	NFX1_ENST00000318524.6_Missense_Mutation_p.S376C|NFX1_ENST00000379521.4_Missense_Mutation_p.S376C	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	376		inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	GAGTTGTCAGAGCTGTTACCA	0.418	0	217.0	205.0	209.0	9	33301353	2203	4300	6503	SO:0001583	missense	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102		7803	protein-coding gene	gene with protein product		603255			7964459, 2511169	Standard	NM_002504	Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1126A>T	9.37:g.33301353A>T	ENSP00000368856:p.Ser376Cys	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242547	0.79912	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.43688	0.94;0.94;0.94	5.76	4.63	0.57726	Zinc finger, PHD-finger (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (2);	0.117858	0.85682	D	0.000000	T	0.57169	0.2035	L	0.60957	1.885	0.51012	D	0.999908	D;D;B;D;P	0.89917	1.0;0.999;0.295;1.0;0.461	D;P;B;D;B	0.72075	0.976;0.907;0.067;0.936;0.236	T	0.58042	-0.7706	10	0.66056	D	0.02	-5.4191	9.7406	0.40416	0.9185:0.0:0.0815:0.0	.	376;260;376;376;376	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	C	376	ENSP00000368856:S376C;ENSP00000368836:S376C;ENSP00000317695:S376C	ENSP00000317695:S376C	S	+	1	0	NFX1	33291353	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.290000	0.72712	1.015000	0.39444	0.450000	0.29827	AGC	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		73.750870	0	5	125	0	0	1	0		28	79.419393	80	0.259259
TP53INP1	0	broad.mit.edu	hg19	8	95952120	95952120	+	Silent	SNP	C	C	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr8:95952120C>T	ENST00000342697.4	-	3	848	c.441G>A	c.(439-441)ggG>ggA	p.G147G	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.G147G|TP53INP1_ENST00000378776.4_Silent_p.G147G	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	147		apoptosis	PML body		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)				ATTCATCAGTCCCACGGGTGG	0.463	0	122.0	107.0	112.0	8	95952120	2203	4300	6503	SO:0001819	synonymous_variant	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938		18022	protein-coding gene	gene with protein product		606185			11511362, 12438758	Standard	NM_033285	Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.441G>A	8.37:g.95952120C>T		B2RCE5|Q969R9	ENST00000342697.4	37	CCDS6265.1																																																																																			TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1		37.856316	0	27	72	0	0	1	0		16	43.947089	61	0.207792
MUC17	140453	broad.mit.edu	hg19	7	100679352	100679352	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr7:100679352G>A	ENST00000306151.4	+	3	4719	c.4655G>A	c.(4654-4656)aGt>aAt	p.S1552N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1552	59 X approximate tandem repeats.|Ser-rich.		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)				TCTCAAGCCAGTTCATCTCCT	0.488	0	264.0	243.0	250.0	7	100679352	2203	4300	6503	SO:0001583	missense	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876	"""Mucins"""	16800	protein-coding gene	gene with protein product		608424			11855812	Standard	NM_001040105	Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4655G>A	7.37:g.100679352G>A	ENSP00000302716:p.Ser1552Asn	O14761|Q685J2|Q8TDH7	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.785	-0.481048	0.04383	.	.	ENSG00000169876	ENST00000306151	T	0.01998	4.51	0.922	-0.204	0.13200	.	.	.	.	.	T	0.01189	0.0039	L	0.27053	0.805	0.09310	N	1	P	0.47604	0.898	B	0.28638	0.092	T	0.51647	-0.8679	9	0.24483	T	0.36	.	4.9771	0.14146	0.0:0.4345:0.5654:0.0	.	1552	Q685J3	MUC17_HUMAN	N	1552	ENSP00000302716:S1552N	ENSP00000302716:S1552N	S	+	2	0	MUC17	100466072	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-1.672000	0.01952	-0.040000	0.13580	0.121000	0.15741	AGT	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		3.020481	0	78	357	0	0	1	0	NM_001040105	11	25.526268	118	0.085271
MUC16	94025	broad.mit.edu	hg19	19	9083332	9083332	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr19:9083332G>A	ENST00000397910.4	-	1	8686	c.8483C>T	c.(8482-8484)gCc>gTc	p.A2828V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2828	Ser-rich.|Thr-rich.	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590					TTCAGACATGGCTGTAACCTC	0.502	0	114.0	109.0	111.0	19	9083332	2023	4180	6203	SO:0001583	missense	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	"""Mucins"""	15582	protein-coding gene	gene with protein product		606154			11369781	Standard	XM_006722941	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8483C>T	19.37:g.9083332G>A	ENSP00000381008:p.Ala2828Val	Q6ZQW5|Q96RK2	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	10.70	1.425415	0.25639	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.869	0.869	0.19096	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	.	.	.	D	0.60575	0.988	P	0.59948	0.866	T	0.44314	-0.9336	8	0.87932	D	0	.	5.0445	0.14477	0.0:0.0:1.0:0.0	.	2828	B5ME49	.	V	2828	ENSP00000381008:A2828V	ENSP00000381008:A2828V	A	-	2	0	MUC16	8944332	0.001000	0.12720	0.071000	0.20095	0.869000	0.49853	0.168000	0.16622	0.740000	0.32651	0.313000	0.20887	GCC	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		17.343858	0	16	39	0	0	1	0	NM_024690	6	17.786740	12	0.333333
EPHA2	1969	broad.mit.edu	hg19	1	16458656	16458656	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr1:16458656C>T	ENST00000358432.5	-	13	2382	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	743	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.	activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	GAGGATGTTGCGGGCAGCCAG	0.612	0	177.0	152.0	161.0	1	16458656	2203	4300	6503	SO:0001583	missense	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK	9119409	Standard	NM_004431	Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2228G>A	1.37:g.16458656C>T	ENSP00000351209:p.Arg743His	B5A968|Q8N3Z2	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577998	0.96565	.	.	ENSG00000142627	ENST00000358432	D	0.87729	-2.29	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000015	D	0.95277	0.8468	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95654	0.8709	10	0.87932	D	0	.	18.1378	0.89627	0.0:1.0:0.0:0.0	.	743	P29317	EPHA2_HUMAN	H	743	ENSP00000351209:R743H	ENSP00000351209:R743H	R	-	2	0	EPHA2	16331243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CGC	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1		-5.120437	0	43	191	0	0	1	0	NM_004431	3	6.378385	52	0.054545
MRPS24	64951	hgsc.bcm.edu	hg19	7	43906327	43906327	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970																										ACCTTTGAGGGCACAGTTTGG	0.468	0	80.0	82.0	81.0	7	43906327	2203	4300	6503	SO:0001583	missense	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582	"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986			8127713, 11279123	Standard	NM_032014	Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.475C>T	7.37:g.43906327G>A	ENSP00000318158:p.Pro159Ser	A4D1U9|P82668|Q96Q23|Q9P047	ENST00000317534.5	37	CCDS5473.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216026	0.58452	.	.	ENSG00000062582	ENST00000317534	T	0.40225	1.04	5.07	5.07	0.68467	.	0.312621	0.36374	N	0.002622	T	0.54983	0.1892	M	0.64997	1.995	0.35726	D	0.817525	D	0.59767	0.986	P	0.60886	0.88	T	0.62267	-0.6890	10	0.33141	T	0.24	.	11.799	0.52116	0.0:0.1774:0.8226:0.0	.	159	Q96EL2	RT24_HUMAN	S	159	ENSP00000318158:P159S	ENSP00000318158:P159S	P	-	1	0	MRPS24	43872852	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.611000	0.54132	2.359000	0.80004	0.643000	0.83706	CCC	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1				15	86					NM_032014	5		91	
C6orf211	79624	broad.mit.edu	hg19	6	151790148	151790148	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr6:151790148G>A	ENST00000367294.3	+	5	1488	c.1229G>A	c.(1228-1230)gGt>gAt	p.G410D	C6orf211_ENST00000545879.1_Missense_Mutation_p.G291D	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	410				protein binding	breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	ATTCAGGTTGGTCTGCAGCCT	0.478	0	36.0	40.0	39.0	6	151790148	2155	4277	6432	SO:0001583	missense	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476		17872	protein-coding gene	gene with protein product						Standard	NM_001286562	Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.1229G>A	6.37:g.151790148G>A	ENSP00000356263:p.Gly410Asp	Q96FC6|Q9UFY5	ENST00000367294.3	37	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118330	0.94385	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.07021	3.23;3.23	6.16	6.16	0.99307	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50398	-0.8833	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	410	Q9H993	CF211_HUMAN	D	410;291	ENSP00000356263:G410D;ENSP00000444121:G291D	ENSP00000356263:G410D	G	+	2	0	C6orf211	151831841	1.000000	0.71417	0.946000	0.38457	0.940000	0.58332	9.526000	0.98042	2.937000	0.99478	0.650000	0.86243	GGT	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1		56.110152	0	6	65	0	0	1	0	NM_024573	19	57.044840	34	0.358491
SCN9A	6335	broad.mit.edu	hg19	2	167056074	167056074	+	Missense_Mutation	SNP	A	A	G			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr2:167056074A>G	ENST00000303354.6	-	27	5418	c.5078T>C	c.(5077-5079)tTc>tCc	p.F1693S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F1681S|SCN9A_ENST00000375387.4_Missense_Mutation_p.F1693S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F1692S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1692			voltage-gated sodium channel complex	voltage-gated sodium channel activity	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					TGTAATTTGGAACAGGCAAAT	0.413	0	178.0	189.0	185.0	2	167056074	2203	4300	6503	SO:0001583	missense	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432	"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""		7720699, 10198179, 16382098	Standard	NM_002977	Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409672.1:c.5042T>C	2.37:g.167056074A>G	ENSP00000386306:p.Phe1681Ser	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	ENST00000409672.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550797	0.65311	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.99259	-5.64;-5.64;-5.64;-5.64	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000005	D	0.99799	0.9914	H	0.99946	5.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96411	0.9304	10	0.87932	D	0	.	16.2479	0.82454	1.0:0.0:0.0:0.0	.	1681	E7EUN6	.	S	1681;1693;1693;1692	ENSP00000386306:F1681S;ENSP00000364536:F1693S;ENSP00000304748:F1693S;ENSP00000386330:F1692S	ENSP00000304748:F1693S	F	-	2	0	SCN9A	166764320	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	9.031000	0.93731	2.241000	0.73720	0.533000	0.62120	TTC	SCN9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333636.1		337.727435	0	19	199	0	0	1	0	NM_002977	103	337.847344	114	0.474654
KIAA0430	9665	broad.mit.edu	hg19	16	15690613	15690613	+	Missense_Mutation	SNP	C	C	G			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr16:15690613C>G	ENST00000396368.3	-	27	5372	c.5166G>C	c.(5164-5166)aaG>aaC	p.K1722N	KIAA0430_ENST00000540441.2_Missense_Mutation_p.K1557N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K1722N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K1719N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.K1719N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.K1410N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1721			peroxisome	nucleotide binding|RNA binding	breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40					TTTTGGGTTGCTTTTTGGCCG	0.512	0	162.0	153.0	156.0	16	15690613	1886	4113	5999	SO:0001583	missense	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593			9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647	Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000540441.2:c.4671G>C	16.37:g.15690613C>G	ENSP00000439819:p.Lys1557Asn	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	ENST00000540441.2	37		.	.	.	.	.	.	.	.	.	.	C	25.2	4.617441	0.87359	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	4.5	0.54988	.	0.108400	0.64402	D	0.000008	T	0.38054	0.1026	L	0.27053	0.805	0.28490	N	0.914539	D;P;P;P	0.54772	0.968;0.897;0.897;0.947	P;P;P;B	0.48654	0.585;0.552;0.552;0.381	T	0.34004	-0.9846	9	0.72032	D	0.01	.	13.6211	0.62138	0.0:0.9258:0.0:0.0742	.	1721;1719;1718;1721	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	N	1722;1557;1662;1410;1719;1722;1588	.	ENSP00000315718:K1662N	K	-	3	2	KIAA0430	15598114	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.892000	0.39748	2.538000	0.85594	0.655000	0.94253	AAG	KIAA0430-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403737.1		172.511271	0	-2	103	0	0	1	0	NM_014647	51	174.538248	25	0.671053
SERTM1	400120	broad.mit.edu	hg19	13	37269336	37269336	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr13:37269336G>A	ENST00000315190.3	+	2	567	c.121G>A	c.(121-123)Gtc>Atc	p.V41I		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	41			integral to membrane								CCTGTCAAACGTCTACATCTA	0.473	0	242.0	207.0	219.0	13	37269336	2203	4300	6503	SO:0001583	missense		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440		33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36		Standard	NM_203451	Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.121G>A	13.37:g.37269336G>A	ENSP00000325776:p.Val41Ile	Q8N469	ENST00000315190.3	37	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392539	0.62066	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.1	5.1	0.69264	.	0.068670	0.56097	D	0.000023	T	0.41511	0.1162	N	0.19112	0.55	0.41441	D	0.987924	P	0.44776	0.843	B	0.39904	0.313	T	0.51434	-0.8706	9	0.87932	D	0	-25.5942	17.4901	0.87701	0.0:0.0:1.0:0.0	.	41	A2A2V5	SRTM1_HUMAN	I	41	.	ENSP00000325776:V41I	V	+	1	0	SERTM1	36167336	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.830000	0.69324	2.345000	0.79718	0.563000	0.77884	GTC	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2		-23.516816	0	15	137	0	0	1	0	NM_203451	7	13.851158	159	0.042169
COMMD4	54939	ucsc.edu	hg19	15	75632318	75632318	+	Missense_Mutation	SNP	C	C	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970																										CTGAAGCAGGCCCAGACCCTG	0.632	0	71.0	63.0	66.0	15	75632318	2197	4294	6491	SO:0001583	missense	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365		26027	protein-coding gene	gene with protein product					15799966	Standard	XM_005254511	Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.572C>A	15.37:g.75632318C>A	ENSP00000267935:p.Ala191Asp	B2RBN4|H3BUL2|Q7L637|Q9NX43	ENST00000267935.8	37	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124113	0.56613	.	.	ENSG00000140365	ENST00000267935;ENST00000338995	T	0.13538	2.58	4.95	4.03	0.46877	COMM domain (1);	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.89715	3.055	0.34154	D	0.667854	P;D	0.71674	0.801;0.998	P;D	0.70935	0.681;0.971	T	0.64972	-0.6281	10	0.87932	D	0	.	12.1941	0.54288	0.0:0.9167:0.0:0.0833	.	132;191	Q9H0A8-2;Q9H0A8	.;COMD4_HUMAN	D	191;132	ENSP00000267935:A191D	ENSP00000267935:A191D	A	+	2	0	COMMD4	73419371	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.170000	0.58229	1.076000	0.40961	0.655000	0.94253	GCC	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1				2	50					NM_017828	4		29	
SPEG	10290	broad.mit.edu	hg19	2	220352973	220352973	+	Missense_Mutation	SNP	C	C	G			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr2:220352973C>G	ENST00000312358.7	+	32	7931	c.7799C>G	c.(7798-7800)gCa>gGa	p.A2600G	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2600	Ig-like 9.	muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	GAGGGGGAGGCAGCCACCCTG	0.602	0	59.0	63.0	62.0	2	220352973	2043	4203	6246	SO:0001583	missense	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195	"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1	8663449, 10973969	Standard	NM_005876	Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7799C>G	2.37:g.220352973C>G	ENSP00000311684:p.Ala2600Gly	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624120	0.66901	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.68181	-0.31	4.89	3.95	0.45737	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38778	N	0.001570	T	0.63698	0.2533	L	0.31476	0.935	0.80722	D	1	P	0.52170	0.951	P	0.52343	0.696	T	0.61302	-0.7090	10	0.28530	T	0.3	.	14.5901	0.68359	0.0:0.8533:0.1467:0.0	.	2600	Q15772	SPEG_HUMAN	G	2600	ENSP00000311684:A2600G	ENSP00000265327:A2600G	A	+	2	0	SPEG	220061217	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.917000	0.69989	2.282000	0.76494	0.591000	0.81541	GCA	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		57.500203	0	5	94	0	0	1	0	NM_005876	20	58.966258	40	0.333333
MIR450A1	0	broad.mit.edu	hg19	X	133674386	133674386	+	RNA	SNP	C	C	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chrX:133674386C>A	ENST00000362262.1	-	0	75					NR_029962.1																TGATACAAAACTATACATGCA	0.328	0	122.0	96.0	104.0	X	133674386	1566	3580	5146					Xq26.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000199132	ENSG00000199132	"""ncRNAs / Micro RNAs"""	28008	non-coding RNA	RNA, micro			"""microRNA 450"", ""microRNA 450-1"""	MIRN450, MIRN450-1, MIRN450A1		Standard	NR_029962	Approved	hsa-mir-450, hsa-mir-450-1, hsa-mir-450a-1	uc011mvl.2				X.37:g.133674386C>A			ENST00000362262.1	37																																																																																				MIR450A1-201	KNOWN	basic	miRNA	miRNA			0.259303	1	-16	95	0	0.00909568	1	0.00909568	NR_029962	4	8.994595	45	0.081633
SPRY2	10253	broad.mit.edu	hg19	13	80911791	80911791	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr13:80911791G>A	ENST00000377102.1	-	2	1027	c.50C>T	c.(49-51)aCg>aTg	p.T17M	SPRY2_ENST00000540649.1_Missense_Mutation_p.T17M|SPRY2_ENST00000377104.3_Missense_Mutation_p.T17M			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	17		epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)	GTCACGGGGCGTCTGCAGCAA	0.607	0	58.0	60.0	59.0	13	80911791	2203	4300	6503	SO:0001583	missense	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158		11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""		9458049	Standard	NM_005842	Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.50C>T	13.37:g.80911791G>A	ENSP00000366306:p.Thr17Met	B2R9J9|Q5T6Z7	ENST00000377102.1	37	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	G	9.716	1.158497	0.21454	2.27E-4	0.0	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.55588	0.51;0.51;0.51	5.2	3.45	0.39498	.	0.558410	0.19137	N	0.121790	T	0.29190	0.0726	N	0.08118	0	0.24756	N	0.992952	B	0.06786	0.001	B	0.04013	0.001	T	0.17018	-1.0383	10	0.54805	T	0.06	1.0E-4	6.2473	0.20825	0.0725:0.1336:0.6553:0.1386	.	17	O43597	SPY2_HUMAN	M	17	ENSP00000366308:T17M;ENSP00000366306:T17M;ENSP00000439027:T17M	ENSP00000366306:T17M	T	-	2	0	SPRY2	79809792	0.695000	0.27747	0.199000	0.23439	0.956000	0.61745	1.187000	0.32090	0.588000	0.29660	0.650000	0.86243	ACG	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1		139.773313	0	26	102	0	0	1	0		45	139.775679	46	0.494505
CYSLTR2	57105	broad.mit.edu	hg19	13	49281339	49281339	+	Missense_Mutation	SNP	T	T	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr13:49281339T>A	ENST00000282018.3	+	1	389	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	129		immune response	integral to membrane|plasma membrane		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	ATTTATTTCCTGACCGTGCTG	0.468	0	209.0	201.0	204.0	13	49281339	2203	4300	6503	SO:0001583	missense	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207	"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666			10913337, 1085123	Standard	NM_020377	Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.386T>A	13.37:g.49281339T>A	ENSP00000282018:p.Leu129Gln	Q9HCQ2	ENST00000282018.3	37	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679001	0.88542	.	.	ENSG00000152207	ENST00000282018	D	0.81579	-1.51	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000066	D	0.93756	0.8004	H	0.97783	4.075	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	D	0.95820	0.8849	10	0.87932	D	0	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	129	Q9NS75	CLTR2_HUMAN	Q	129	ENSP00000282018:L129Q	ENSP00000282018:L129Q	L	+	2	0	CYSLTR2	48179340	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.004000	0.88535	2.333000	0.79357	0.533000	0.62120	CTG	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		327.125322	0	35	188	0	0	1	0		102	327.764818	128	0.443478
RP11-1055B8.7	0	broad.mit.edu	hg19	17	79411771	79411771	+	Missense_Mutation	SNP	T	T	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr17:79411771T>A	ENST00000307745.7	+	12	2590	c.2590T>A	c.(2590-2592)Ttc>Atc	p.F864I																		GCCCTCTGTCTTCCCCCTCCC	0.716	0	28.0	36.0	33.0	17	79411771	2008	4155	6163	SO:0001583	missense																									ENST00000307745.7:c.2590T>A	17.37:g.79411771T>A	ENSP00000303486:p.Phe864Ile		ENST00000307745.7	37		.	.	.	.	.	.	.	.	.	.	T	15.01	2.707394	0.48412	.	.	ENSG00000171282	ENST00000307745	T	0.51817	0.69	4.63	4.63	0.57726	.	0.217184	0.30338	N	0.009858	T	0.52789	0.1756	L	0.57536	1.79	0.39085	D	0.96098	D;D	0.56287	0.958;0.975	B;P	0.50570	0.386;0.644	T	0.56854	-0.7910	10	0.37606	T	0.19	.	13.8629	0.63571	0.0:0.0:0.0:1.0	.	864;864	Q9P281;F8WBW8	BAHC1_HUMAN;.	I	864	ENSP00000303486:F864I	ENSP00000303486:F864I	F	+	1	0	AC110285.1	77026366	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	2.686000	0.46968	1.929000	0.55896	0.402000	0.26972	TTC	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			46.493683	0	-12	41	0	0	1	0		16	46.519469	18	0.470588
ANK2	287	broad.mit.edu	hg19	4	114274935	114274935	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr4:114274935G>A	ENST00000357077.4	+	38	5214	c.5161G>A	c.(5161-5163)Gct>Act	p.A1721T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A1688T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1688		axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	AGGTTTACAAGCTAGTGCAGA	0.423	0	167.0	175.0	172.0	4	114274935	2203	4300	6503	SO:0001583	missense	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4	7485162, 12571597	Standard	NM_001148	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000264366.6:c.5062G>A	4.37:g.114274935G>A	ENSP00000264366:p.Ala1688Thr	Q01485|Q08AC7|Q08AC8|Q7Z3L5	ENST00000264366.6	37	CCDS43261.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.862920	0.00064	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67345	-0.25;-0.26	5.51	-2.69	0.06022	.	1.019830	0.07828	N	0.960992	T	0.50514	0.1620	L	0.36672	1.1	0.09310	N	1	B;B	0.16166	0.003;0.016	B;B	0.11329	0.002;0.006	T	0.30966	-0.9960	9	.	.	.	.	7.1289	0.25488	0.397:0.2027:0.4003:0.0	.	1688;1721	Q01484;Q01484-4	ANK2_HUMAN;.	T	1721;1688	ENSP00000349588:A1721T;ENSP00000264366:A1688T	.	A	+	1	0	ANK2	114494384	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.017000	0.12590	-0.496000	0.06650	-0.768000	0.03414	GCT	ANK2-026	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386954.1		341.674806	0	9	205	0	0	1	0	NM_001148	106	343.384366	69	0.605714
PGBD1	84547	broad.mit.edu	hg19	6	28268896	28268896	+	Missense_Mutation	SNP	T	T	G			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr6:28268896T>G	ENST00000405948.2	+	7	1685	c.1265T>G	c.(1264-1266)cTt>cGt	p.L422R	PGBD1_ENST00000259883.3_Missense_Mutation_p.L422R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	422		viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41					CCAGTAGAGCTTTTTGAATTA	0.358	0	78.0	84.0	82.0	6	28268896	2199	4293	6492	SO:0001583	missense	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338	"""-"""	19398	protein-coding gene	gene with protein product						Standard	NM_001184743	Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1265T>G	6.37:g.28268896T>G	ENSP00000385213:p.Leu422Arg	Q53F43|Q6NTF5|Q8WWS4	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.888013	0.52014	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.22336	1.96;1.96	4.54	4.54	0.55810	.	0.193558	0.25789	N	0.028285	T	0.25457	0.0619	L	0.59436	1.845	0.35363	D	0.788404	D	0.62365	0.991	P	0.60541	0.876	T	0.05225	-1.0898	10	0.59425	D	0.04	-23.6211	10.4662	0.44609	0.0:0.0:0.0:1.0	.	422	Q96JS3	PGBD1_HUMAN	R	422	ENSP00000385213:L422R;ENSP00000259883:L422R	ENSP00000259883:L422R	L	+	2	0	PGBD1	28376875	0.984000	0.35163	0.996000	0.52242	0.979000	0.70002	1.793000	0.38764	2.039000	0.60335	0.533000	0.62120	CTT	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		354.834423	0	-24	104	0	0	1	0		108	357.056878	66	0.620690
TBCD	6904	broad.mit.edu	hg19	17	80828169	80828169	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr17:80828169T>C	ENST00000355528.4	+	14	1518	c.1388T>C	c.(1387-1389)gTc>gCc	p.V463A	TBCD_ENST00000397466.2_Missense_Mutation_p.V77A|TBCD_ENST00000539345.2_Missense_Mutation_p.V463A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	463		'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity			Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		GGCACCAACGTCAGGGACGCC	0.622	0	49.0	56.0	54.0	17	80828169	2149	4243	6392	SO:0001583	missense	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556		11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""			Standard	NM_005993	Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1388T>C	17.37:g.80828169T>C	ENSP00000347719:p.Val463Ala	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000039	0.74818	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.74947	-0.89;-0.89	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.167192	0.39146	N	0.001446	D	0.87245	0.6129	M	0.91663	3.23	0.54753	D	0.999987	P;P;D	0.55605	0.892;0.935;0.972	P;P;P	0.61800	0.459;0.661;0.894	D	0.89780	0.3960	9	.	.	.	.	13.036	0.58873	0.0:0.0:0.0:1.0	.	463;463;463	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	A	463;214;77;463	ENSP00000347719:V463A;ENSP00000380608:V77A	.	V	+	2	0	TBCD	78421458	1.000000	0.71417	0.996000	0.52242	0.167000	0.22549	7.211000	0.77933	2.094000	0.63399	0.533000	0.62120	GTC	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1		76.097957	0	3	59	0	0	1	0	NM_005993	24	76.164539	28	0.461538
CCDC73	493860	broad.mit.edu	hg19	11	32637519	32637520	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr11:32637519_32637520insT	ENST00000335185.5	-	15	1384_1385	c.1341_1342insA	c.(1339-1344)aaagaafs	p.E448fs	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	448					NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)				AATGAGCCTTCTTTTTTTTCTT	0.248	0									SO:0001589	frameshift_variant	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714		23261	protein-coding gene	gene with protein product		612328				Standard	NM_001008391	Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1342dupA	11.37:g.32637527_32637527dupT	ENSP00000335325:p.Glu448fs	Q6P5Q7|Q6ZMW0|Q86WE7	ENST00000335185.5	37	CCDS41630.1																																																																																			CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	.	.		-17	24					NM_001008391	2		4	0.33
ZNF844	284391	broad.mit.edu	hg19	19	12187762	12187762	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr19:12187762delG	ENST00000439326.3	+	4	2002	c.1827delG	c.(1825-1827)ctgfs	p.L609fs	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	609		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10					AACACACCCTGGAGAGAAACC	0.403	0	107.0	101.0	103.0	19	12187762	692	1591	2283	SO:0001589	frameshift_variant	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547	"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product						Standard	NM_001136501	Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1827delG	19.37:g.12187762delG	ENSP00000392024:p.Leu609fs	Q5JPI8	ENST00000439326.3	37	CCDS45985.1																																																																																			ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2	.	.		3	13						2		4	0.33