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
MATN4	8785	broad.mit.edu	hg19	20	43926902	43926902	+	Missense_Mutation	SNP	C	C	T	rs150948243		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr20:43926902C>T	ENST00000537548.1	-	8	1578	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	MATN4_ENST00000372751.4_Missense_Mutation_p.R296H|MATN4_ENST00000342716.4_Missense_Mutation_p.R445H|MATN4_ENST00000353917.5_Missense_Mutation_p.R363H|MATN4_ENST00000372754.1_Missense_Mutation_p.R486H|MATN4_ENST00000360607.6_Missense_Mutation_p.R404H|MATN4_ENST00000372756.1_Missense_Mutation_p.R445H			O95460	MATN4_HUMAN	matrilin 4	486	VWFA 2.		extracellular region	protein binding	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)			GTTAAGGGCACGGGGCCGTGC	0.662	0	66.0	56.0	59.0	20	43926902	2203	4300	6503	SO:0001583	missense	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159		6910	protein-coding gene	gene with protein product		603897			9827539, 9027493	Standard	NM_003833	Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372756.1:c.1334G>A	20.37:g.43926902C>T	ENSP00000361842:p.Arg445His	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	ENST00000372756.1	37	CCDS13348.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150531	0.78001	0.0	4.65E-4	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.46	5.46	0.80206	.	0.000000	0.40144	N	0.001169	D	0.82323	0.5012	L	0.46947	1.48	0.23325	N	0.997903	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.67725	0.953;0.813;0.852	T	0.74293	-0.3712	10	0.42905	T	0.14	.	12.0539	0.53522	0.1837:0.8163:0.0:0.0	.	363;404;445	A6NNA4;O95460-4;O95460-2	.;.;.	H	296;486;445;363;404;445;445;486;296	ENSP00000361839:R296H;ENSP00000361840:R486H;ENSP00000361842:R445H;ENSP00000243983:R363H;ENSP00000353819:R404H;ENSP00000343164:R445H;ENSP00000440328:R445H;ENSP00000361837:R296H	ENSP00000255132:R486H	R	-	2	0	MATN4	43360316	0.723000	0.28027	0.944000	0.38274	0.924000	0.55760	2.027000	0.41078	2.559000	0.86315	0.644000	0.83932	CGT	MATN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080334.1		118.318412	0	16	60	0	0	1	0		36	120.034175	16	0.692308
ADCY4	196883	broad.mit.edu	hg19	14	24803705	24803705	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr14:24803705C>T	ENST00000310677.4	-	2	267	c.154G>A	c.(154-156)Ggc>Agc	p.G52S	ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000418030.2_Missense_Mutation_p.G52S|ADCY4_ENST00000396747.3_5'UTR|RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000554068.2_Missense_Mutation_p.G52S	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	52		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)	CTCACCCTGCCGCTGGCCCAG	0.637	0	4.0	5.0	5.0	14	24803705	1978	3951	5929	SO:0001583	missense	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292			7766992	Standard	NM_001198592	Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.154G>A	14.37:g.24803705C>T	ENSP00000312126:p.Gly52Ser	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303339	0.81136	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.76316	-1.01;-1.01;-1.01	5.45	5.45	0.79879	.	0.000000	0.47455	D	0.000238	T	0.74329	0.3702	L	0.45137	1.4	0.80722	D	1	D;B	0.57571	0.98;0.043	P;B	0.48270	0.572;0.017	T	0.69217	-0.5203	10	0.10111	T	0.7	.	16.8266	0.85933	0.0:1.0:0.0:0.0	.	52;52	G3V258;Q8NFM4	.;ADCY4_HUMAN	S	52	ENSP00000312126:G52S;ENSP00000452250:G52S;ENSP00000393177:G52S	ENSP00000312126:G52S	G	-	1	0	ADCY4	23873545	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.722000	0.61958	2.838000	0.97847	0.655000	0.94253	GGC	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		12.412801	0	5	10	0	0	1	0		4	12.820693	1	0.800000
PROX1	5629	broad.mit.edu	hg19	1	214169914	214169914	+	Silent	SNP	G	G	A			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr1:214169914G>A	ENST00000366958.4	+	2	644	c.36G>A	c.(34-36)cgG>cgA	p.R12R	PROX1_ENST00000498508.2_Silent_p.R12R|PROX1_ENST00000261454.4_Silent_p.R12R|PROX1_ENST00000435016.1_Silent_p.R12R	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	12		aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	TCTTAAGCCGGCAAACCAAGA	0.498	0	103.0	88.0	93.0	1	214169914	2203	4300	6503	SO:0001819	synonymous_variant	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707	"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""		8812486	Standard	NM_002763	Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.36G>A	1.37:g.214169914G>A		A6NK29|A8K2B1|Q5SW76|Q8TB91	ENST00000366958.4	37	CCDS31021.1																																																																																			PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6		-6.226089	0	-4	65	0	0	1	0	NM_002763	3	6.384125	56	0.050847
ZNF251	90987	broad.mit.edu	hg19	8	145947729	145947729	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr8:145947729C>T	ENST00000292562.7	-	5	1591	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	439		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	AAAGGCTTTGCCGCACTCATT	0.468	0	76.0	87.0	83.0	8	145947729	2176	4285	6461	SO:0001583	missense	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169	"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product						Standard	NM_138367	Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1316G>A	8.37:g.145947729C>T	ENSP00000292562:p.Gly439Asp	Q2M219	ENST00000292562.7	37	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417212	0.62622	.	.	ENSG00000198169	ENST00000292562	T	0.01430	4.9	2.15	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03390	0.0098	N	0.21097	0.63	0.34570	D	0.713292	D	0.89917	1.0	D	0.69824	0.966	T	0.56238	-0.8012	9	0.87932	D	0	-3.6415	12.0295	0.53390	0.0:1.0:0.0:0.0	.	439	Q9BRH9	ZN251_HUMAN	D	439	ENSP00000292562:G439D	ENSP00000292562:G439D	G	-	2	0	ZNF251	145918538	0.000000	0.05858	0.920000	0.36463	0.958000	0.62258	0.430000	0.21428	1.521000	0.48983	0.563000	0.77884	GGC	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1		-38.639192	0	-2	98	0	0	1	0	NM_138367	4	6.613292	174	0.022472
ZNF462	58499	broad.mit.edu	hg19	9	109691298	109691298	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr9:109691298G>A	ENST00000277225.5	+	3	5394	c.5105G>A	c.(5104-5106)tGt>tAt	p.C1702Y	ZNF462_ENST00000457913.1_Missense_Mutation_p.C1702Y|ZNF462_ENST00000441147.2_Missense_Mutation_p.C547Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1702		transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119					TGTGCCCTGTGTGCCTACACC	0.572	0	108.0	92.0	97.0	9	109691298	2203	4300	6503	SO:0001583	missense	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143	"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product						Standard	NM_021224	Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000441147.2:c.1640G>A	9.37:g.109691298G>A	ENSP00000397306:p.Cys547Tyr	Q5T0T4|Q8N408	ENST00000441147.2	37		.	.	.	.	.	.	.	.	.	.	G	17.70	3.455039	0.63290	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.26518	1.73;2.13;1.88;1.95	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.30357	-0.9981	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1702;1702	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Y	1702;1702;585;547	ENSP00000277225:C1702Y;ENSP00000414570:C1702Y;ENSP00000363818:C585Y;ENSP00000397306:C547Y	ENSP00000277225:C1702Y	C	+	2	0	ZNF462	108731119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.861000	0.98227	0.655000	0.94253	TGT	ZNF462-009	NOVEL	NAGNAG_splice_site|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356384.1		24.066540	0	-4	41	0	0	1	0	NM_021224	9	24.610125	17	0.346154
DGKK	139189	broad.mit.edu	hg19	X	50213356	50213356	+	RNA	SNP	C	C	G			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chrX:50213356C>G	ENST00000376025.2	-	0	381							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)				ggggccggctctgtggcaggt	0.667	0	54.0	68.0	64.0	X	50213356	1825	4051	5876			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588		32395	protein-coding gene	gene with protein product		300837			16210324	Standard	NM_001013742	Approved		uc010njr.2	Q5KSL6			X.37:g.50213356C>G		B2RP91	ENST00000376025.2	37																																																																																				DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1		243.951886	0	34	307	0	0	1	0	NM_001013742	78	244.115711	89	0.467066
GNAQ	2776	broad.mit.edu	hg19	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	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		73.685294	0	1	113	0	0	1	0	NM_002072	24	74.378064	38	0.387097
PSG4	5672	broad.mit.edu	hg19	19	43708091	43708091	+	Missense_Mutation	SNP	T	T	A			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr19:43708091T>A	ENST00000405312.3	-	2	614	c.377A>T	c.(376-378)aAg>aTg	p.K126M	PSG4_ENST00000244295.9_Missense_Mutation_p.K126M|PSG4_ENST00000433626.2_Missense_Mutation_p.K126M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	126	Ig-like V-type.	defense response|female pregnancy	extracellular region		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)			ATCGCGTCGCTTTATGATGTG	0.507	0	257.0	261.0	260.0	19	43708091	2139	4273	6412	SO:0001583	missense		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393			2783133	Standard	NM_002780	Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.377A>T	19.37:g.43708091T>A	ENSP00000384770:p.Lys126Met	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	ENST00000405312.3	37	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	N	10.47	1.359904	0.24598	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.01599	4.74;4.74;4.74;4.74	1.65	0.528	0.17089	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04003	0.0112	L	0.61218	1.895	0.09310	N	1	D;B;B	0.61080	0.989;0.452;0.006	P;B;B	0.52957	0.714;0.388;0.111	T	0.38929	-0.9638	9	0.66056	D	0.02	.	4.4499	0.11616	0.0:0.0:0.3501:0.6499	.	126;126;126	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	M	126;126;126;142	ENSP00000244295:K126M;ENSP00000384770:K126M;ENSP00000387864:K126M;ENSP00000388134:K142M	ENSP00000244295:K126M	K	-	2	0	PSG4	48399931	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.103000	0.10940	0.097000	0.17492	0.145000	0.16022	AAG	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1		221.084905	0	99	257	0	0	1	0	NM_213633	75	223.095233	117	0.390625
UBA6	55236	broad.mit.edu	hg19	4	68530982	68530982	+	Silent	SNP	A	A	G			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr4:68530982A>G	ENST00000322244.5	-	10	881	c.822T>C	c.(820-822)ggT>ggC	p.G274G	UBA6_ENST00000420827.2_Silent_p.G274G	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6			protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44					CTGTGGTGTCACCAATACTAA	0.299	0	75.0	82.0	79.0	4	68530982	2203	4296	6499	SO:0001819	synonymous_variant	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178	"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2	17580310	Standard	NM_018227	Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.822T>C	4.37:g.68530982A>G		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	ENST00000322244.5	37	CCDS3516.1																																																																																			UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2		94.239376	0	0	131	0	0	1	0	NM_018227	30	94.550788	40	0.428571
JAK1	3716	broad.mit.edu	hg19	1	65339052	65339052	+	Splice_Site	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr1:65339052C>T	ENST00000342505.4	-	5	732		c.e5+1			NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1			interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	AAACTTCCTACCTGAGCAAAC	0.502	0	87.0	91.0	90.0	1	65339052	1946	4160	6106	SO:0001630	splice_region_variant	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434		6190	protein-coding gene	gene with protein product		147795		JAK1B	1848670, 7698020	Standard	NM_002227	Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.483+1G>A	1.37:g.65339052C>T		Q59GQ2|Q9UD26	ENST00000342505.4	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989213	0.74589	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3102	0.94184	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAK1	65111640	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.271000	0.78506	2.734000	0.93682	0.650000	0.86243	.	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1		22.828089	0	4	62	0	0	1	0	NM_002227	7	23.185194	3	0.700000
USP15	9958	broad.mit.edu	hg19	12	62777866	62777866	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr12:62777866C>T	ENST00000280377.5	+	11	1314	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V	USP15_ENST00000393654.3_Missense_Mutation_p.A394V|USP15_ENST00000353364.3_Missense_Mutation_p.A390V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	419		protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	TAGGTGGTTGCCGAAGAAGCC	0.348	0	104.0	102.0	103.0	12	62777866	2202	4299	6501	SO:0001583	missense	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08				"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""		12838346	Standard	NM_001252078	Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1256C>T	12.37:g.62777866C>T	ENSP00000280377:p.Ala419Val	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645750	0.87958	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.30448	4.07;4.07;1.53	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.111049	0.64402	D	0.000008	T	0.61899	0.2384	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.65541	-0.6143	9	.	.	.	-14.3538	18.8461	0.92208	0.0:1.0:0.0:0.0	.	419;390	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	V	390;419;394	ENSP00000258123:A390V;ENSP00000280377:A419V;ENSP00000377264:A394V	.	A	+	2	0	USP15	61064133	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	7.651000	0.83577	2.690000	0.91761	0.655000	0.94253	GCC	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2		74.963953	0	5	75	0	0	1	0	NM_006313	25	75.204879	33	0.431034
BCKDHB	594	broad.mit.edu	hg19	6	80816425	80816425	+	Silent	SNP	G	G	C			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr6:80816425G>C	ENST00000545529.1	+	1	43	c.15G>C	c.(13-15)gcG>gcC	p.A5A	BCKDHB_ENST00000320393.6_Silent_p.A5A|BCKDHB_ENST00000356489.5_Silent_p.A5A|BCKDHB_ENST00000369760.4_Silent_p.A5A			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	5		branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)	CGGTTGTAGCGGCGGCTGCCG	0.726	0	4.0	6.0	5.0	6	80816425	1963	3847	5810	SO:0001819	synonymous_variant	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123		987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611				Standard	NM_183050	Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.15G>C	6.37:g.80816425G>C		Q5T2J3|Q9BQL0	ENST00000320393.6	37	CCDS4994.1																																																																																			BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2		7.476777	0	5	8	0	0	1	0	NM_000056	2	7.253522	0	1.000000
NOP14	8602	broad.mit.edu	hg19	4	2951844	2951844	+	Missense_Mutation	SNP	C	C	T	rs145122268		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr4:2951844C>T	ENST00000416614.2	-	8	1164	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	NOP14_ENST00000502735.1_Missense_Mutation_p.G367R|NOP14_ENST00000314262.6_Missense_Mutation_p.G367R|NOP14_ENST00000398071.4_Missense_Mutation_p.G367R|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	367		endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30					GTGTCCTCCCCGCCTGAACTG	0.532	0	292.0	286.0	288.0	4	2951844	2203	4300	6503	SO:0001583	missense	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269		16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14	9734812, 11694595	Standard	XR_241655	Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1099G>A	4.37:g.2951844C>T	ENSP00000315674:p.Gly367Arg	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	5.098	0.203803	0.09704	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.19	-0.324	0.12706	.	2.457880	0.01324	N	0.011035	T	0.30603	0.0770	L	0.40543	1.245	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.002	T	0.44697	-0.9311	10	0.87932	D	0	-1.6283	11.8659	0.52493	0.0:0.6264:0.0:0.3736	.	160;367;367	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	R	367;367;367;367;266	ENSP00000405068:G367R;ENSP00000315674:G367R;ENSP00000427415:G367R;ENSP00000381146:G367R	ENSP00000315674:G367R	G	-	1	0	NOP14	2921642	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.015000	0.12634	-0.037000	0.13646	-1.865000	0.00557	GGG	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2		204.885945	0	8	224	0	0	1	0	NM_003703	64	205.368308	82	0.438356
EMID1	129080	broad.mit.edu	hg19	22	29621189	29621189	+	Silent	SNP	G	G	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr22:29621189G>T	ENST00000334018.6	+	4	575	c.387G>T	c.(385-387)cgG>cgT	p.R129R	EMID1_ENST00000404820.3_Silent_p.R129R|EMID1_ENST00000404755.3_Silent_p.R129R|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	127			collagen		NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12					TGGCGCTTCGGCCCACAGCCT	0.627	0	99.0	92.0	94.0	22	29621189	2203	4300	6503	SO:0001819	synonymous_variant	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998	"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926			12221002	Standard	NM_001267895	Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.387G>T	22.37:g.29621189G>T		B0QYK6|Q6ICG1|Q86SS7	ENST00000404820.3	37																																																																																				EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1		79.241591	1	22	77	0	1.77063e-15	1	1.77063e-15	NM_133455	26	79.473958	34	0.433333
GLB1L	79411	broad.mit.edu	hg19	2	220107630	220107630	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr2:220107630A>G	ENST00000295759.7	-	4	563	c.250T>C	c.(250-252)Tgg>Cgg	p.W84R	GLB1L_ENST00000409640.1_Missense_Mutation_p.W84R|GLB1L_ENST00000356283.3_Missense_Mutation_p.W84R|GLB1L_ENST00000392089.2_Missense_Mutation_p.W84R			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	84		carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	TGGTAGTTCCAGGGCACATAA	0.537	0	57.0	64.0	61.0	2	220107630	2203	4300	6503	SO:0001583	missense		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521		28129	protein-coding gene	gene with protein product					12975309	Standard	XM_005246850	Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.250T>C	2.37:g.220107630A>G	ENSP00000295759:p.Trp84Arg	Q96DR0	ENST00000295759.7	37	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.931311	0.92389	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427	D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29	6.17	6.17	0.99709	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	H	0.98487	4.245	0.50171	D	0.999854	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96066	0.9042	10	0.87932	D	0	-9.9619	16.8222	0.85835	1.0:0.0:0.0:0.0	.	84;84	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	R	84	ENSP00000295759:W84R;ENSP00000386354:W84R;ENSP00000375939:W84R;ENSP00000348628:W84R;ENSP00000400738:W84R	ENSP00000295759:W84R	W	-	1	0	GLB1L	219815874	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	TGG	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2		-2.411768	0	43	88	0	0	1	0	NM_024506	3	6.888306	44	0.063830
DBN1	1627	broad.mit.edu	hg19	5	176886684	176886686	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr5:176886684_176886686delGAG	ENST00000393565.1	-	11	1126_1128	c.1011_1013delCTC	c.(1009-1014)tcctct>tct	p.337_338SS>S	DBN1_ENST00000512501.1_Intron|DBN1_ENST00000309007.5_Intron|DBN1_ENST00000393563.4_Intron|DBN1_ENST00000292385.5_Intron			Q16643	DREB_HUMAN	drebrin 1	319		actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		ggaggaggaagaggaggaggagg	0.591	0									SO:0001651	inframe_deletion		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758		2695	protein-coding gene	gene with protein product		126660		D0S117E	8216329	Standard	NM_004395	Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000393565.1:c.1011_1013delCTC	5.37:g.176886693_176886695delGAG	ENSP00000377195:p.Ser342del	A8MV58|B2RBG0|Q9UFZ5	ENST00000393565.1	37																																																																																				DBN1-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000258887.1	.	.		3	19					NM_080881	2		4	0.33
CYC1	1537	broad.mit.edu	hg19	8	145151500	145151501	+	In_Frame_Ins	INS	-	-	ACTACT			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr8:145151500_145151501insACTACT	ENST00000318911.4	+	5	698_699	c.625_626insACTACT	c.(625-627)gac>gACTACTac	p.209_210insYY		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	209	Cytochrome c.	respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		TGGTGGTGAGGACTACGTCTTC	0.604	0									SO:0001652	inframe_insertion	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091	"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980				Standard	NM_001916	Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	Exception_encountered	8.37:g.145151500_145151501insACTACT	ENSP00000317159:p.Asp209_Tyr210insTyrTyr	Q5U062|Q6FHS7	ENST00000318911.4	37	CCDS6415.1																																																																																			CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	.	.		13	82					NM_001916	9		142	0.06