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
OSBPL2	9885	broad.mit.edu	hg19	20	60868864	60868864	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr20:60868864C>G	ENST00000313733.3	+	14	1566	c.1364C>G	c.(1363-1365)cCc>cGc	p.P455R	OSBPL2_ENST00000439951.2_Missense_Mutation_p.P322A|OSBPL2_ENST00000471817.1_3'UTR|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P443R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	455		lipid transport		lipid binding	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		GGCAATAACCCCTACACTGGG	0.582	0	55.0	51.0	52.0	20	60868864	2203	4300	6503	SO:0001583	missense	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703	"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""		10588946, 11861666	Standard	NM_144498	Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1364C>G	20.37:g.60868864C>G	ENSP00000316649:p.Pro455Arg	A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	ENST00000313733.3	37	CCDS13495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.097111|4.097111	0.76870|0.76870	.|.	.|.	ENSG00000130703|ENSG00000130703	ENST00000439951|ENST00000358053;ENST00000313733	T|T;T	0.53206|0.31510	0.63|1.49;1.49	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.110120|0.110120	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.60573|0.60573	0.2279|0.2279	M|M	0.87900|0.87900	2.915|2.915	0.36876|0.36876	D|D	0.889151|0.889151	B|D;D	0.23316|0.71674	0.083|0.997;0.998	B|D;D	0.19946|0.76575	0.027|0.972;0.988	T|T	0.75054|0.75054	-0.3453|-0.3453	10|10	0.87932|0.72032	D|D	0|0.01	-11.8721|-11.8721	15.7764|15.7764	0.78224|0.78224	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	322|443;455	E7ET92|Q9H1P3-2;Q9H1P3	.|.;OSBL2_HUMAN	A|R	322|443;455	ENSP00000397602:P322A|ENSP00000350755:P443R;ENSP00000316649:P455R	ENSP00000397602:P322A|ENSP00000316649:P455R	P|P	+|+	1|2	0|0	OSBPL2|OSBPL2	60302259|60302259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.817000|0.817000	0.46193|0.46193	5.538000|5.538000	0.67193|0.67193	1.798000|1.798000	0.52647|0.52647	0.561000|0.561000	0.74099|0.74099	CCT|CCC	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1		69.583866	0	-33	71	0	0	1	0	NM_014835	24	70.191037	37	0.393443
SLC25A6	293	broad.mit.edu	hg19	X	1508133	1508133	+	Splice_Site	SNP	C	C	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chrX:1508133C>A	ENST00000381401.5	-	2	1313		c.e2+1		SLC25A6_ENST00000475167.1_Splice_Site	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6			active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			gccACACGTACCCTTGGCCGT	0.627	0	71.0	66.0	68.0	X	1508133	2203	4296	6499	SO:0001630	splice_region_variant	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100	"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3		Standard	NM_001636	Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.598+1G>T	X.37:g.1508133C>A		Q96C49	ENST00000381401.5	37	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	6.611	0.481076	0.12581	.	.	ENSG00000169100	ENST00000381401	.	.	.	1.7	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.20403	N	0.999903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7314	0.51739	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A6	1468133	1.000000	0.71417	0.058000	0.19502	0.092000	0.18411	5.896000	0.69822	0.888000	0.36160	0.402000	0.26972	.	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1		-3.816728	1	-13	38	0	0.004672	1	0.00494682	NM_001636	3	6.306405	47	0.060000
B3GAT3	26229	broad.mit.edu	hg19	11	62389419	62389419	+	Translation_Start_Site	SNP	T	T	C	rs139759238		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr11:62389419T>C	ENST00000531383.1	-	1	207	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	B3GAT3_ENST00000534026.1_Start_Codon_SNP_p.M1V|B3GAT3_ENST00000265471.5_Start_Codon_SNP_p.M1V			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	1		glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12					TTCAGCTTCATggccgcgccg	0.726	0	40.0	36.0	38.0	11	62389419	2202	4296	6498	SO:0001582	initiator_codon_variant	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""		9506957	Standard	NM_012200	Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.1A>G	11.37:g.62389419T>C	ENSP00000265471:p.Met1Val	B7ZAB3|Q96I06|Q9UEP0	ENST00000265471.5	37	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	T	32	5.174616	0.94807	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.64438	-0.06;-0.09;-0.1;0.47	4.8	4.8	0.61643	.	0.165491	0.50627	N	0.000110	T	0.71290	0.3322	.	.	.	0.80722	D	1	B;P	0.49447	0.001;0.924	B;P	0.60682	0.002;0.878	T	0.69650	-0.5088	9	0.33940	T	0.23	.	10.6578	0.45686	0.0:0.0:0.0:1.0	.	1;1	B7ZAB3;O94766	.;B3GA3_HUMAN	V	1	ENSP00000265471:M1V;ENSP00000431359:M1V;ENSP00000432474:M1V;ENSP00000432854:M1V	ENSP00000265471:M1V	M	-	1	0	B3GAT3	62145995	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.264000	0.58859	2.018000	0.59344	0.459000	0.35465	ATG	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1		2.405048	0	-13	31	0	0	1	0	NM_012200	3	6.444898	24	0.111111
IQSEC3	440073	broad.mit.edu	hg19	12	266746	266746	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr12:266746G>A	ENST00000538872.1	+	7	2447	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N	IQSEC3_ENST00000326261.4_Missense_Mutation_p.D777N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D474N			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	777	SEC7.	regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	CCACAACCCCGACACCATCTT	0.597	0	314.0	214.0	248.0	12	266746	2203	4300	6503	SO:0001583	missense	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645		29193	protein-coding gene	gene with protein product		612118			10470851	Standard	NM_001170738	Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2329G>A	12.37:g.266746G>A	ENSP00000437554:p.Asp777Asn	A6NIF2|A6NKV9|Q8TB43	ENST00000538872.1	37	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215596	0.95104	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	D;D;D	0.82619	-1.63;-1.63;-1.63	4.51	4.51	0.55191	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.044756	0.85682	D	0.000000	D	0.92922	0.7748	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94723	0.7902	10	0.87932	D	0	.	17.5649	0.87917	0.0:0.0:1.0:0.0	.	777;474	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	N	777;777;474	ENSP00000437554:D777N;ENSP00000315662:D777N;ENSP00000372292:D474N	ENSP00000315662:D777N	D	+	1	0	IQSEC3	137007	1.000000	0.71417	0.965000	0.40720	0.908000	0.53690	9.805000	0.99149	2.233000	0.73108	0.491000	0.48974	GAC	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3		106.564319	0	-22	79	0	0	1	0	XM_495902	36	107.789773	59	0.378947
ZSCAN10	84891	broad.mit.edu	hg19	16	3140133	3140133	+	Silent	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr16:3140133G>A	ENST00000252463.2	-	5	1224	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C	ZSCAN10_ENST00000575108.1_Silent_p.C40C|ZSCAN10_ENST00000538082.2_Silent_p.C297C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	379		negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24					CGCACTCTGCGCACAGGAAGG	0.711	0	19.0	25.0	23.0	16	3140133	2095	4058	6153	SO:0001819	synonymous_variant	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182	"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206	9653642	Standard	NM_032805	Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1137C>T	16.37:g.3140133G>A		B3KQD3|H0YFS6|Q1WWM2	ENST00000252463.2	37	CCDS10493.1																																																																																			ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2		-8.428582	0	-1	55	0	0	1	0	NM_032805	3	6.414680	64	0.044776
MYH7	4625	broad.mit.edu	hg19	14	23888716	23888716	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr14:23888716G>A	ENST00000355349.3	-	28	3991	c.3829C>T	c.(3829-3831)Cgg>Tgg	p.R1277W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1277		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)	AACTTGGCCCGCTGGCTGGTG	0.602	0	105.0	94.0	98.0	14	23888716	2203	4300	6503	SO:0001583	missense	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054	"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1	2494889, 8483915, 15322983	Standard	XM_005267696	Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3829C>T	14.37:g.23888716G>A	ENSP00000347507:p.Arg1277Trp	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091150	0.76756	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79749	-1.3	4.99	4.03	0.46877	Myosin tail (1);	.	.	.	.	D	0.90328	0.6974	M	0.88450	2.955	0.46167	D	0.998903	D	0.71674	0.998	D	0.69654	0.965	D	0.92093	0.5682	9	0.87932	D	0	.	15.3347	0.74241	0.0:0.0:0.8136:0.1863	.	1277	P12883	MYH7_HUMAN	W	1277;1282	ENSP00000347507:R1277W	ENSP00000347507:R1277W	R	-	1	2	MYH7	22958556	0.950000	0.32346	1.000000	0.80357	0.998000	0.95712	0.789000	0.26886	2.602000	0.87976	0.655000	0.94253	CGG	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		-21.100786	0	-30	100	0	0	1	0	NM_000257	4	7.120066	115	0.033613
ZNF281	23528	broad.mit.edu	hg19	1	200377456	200377456	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:200377456T>C	ENST00000294740.3	-	2	1502	c.1378A>G	c.(1378-1380)Aag>Gag	p.K460E	ZNF281_ENST00000367353.1_Missense_Mutation_p.K460E|ZNF281_ENST00000367352.3_Missense_Mutation_p.K424E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281			negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27					GGCACCCTCTTCTGCAGTTCA	0.378	0	117.0	111.0	113.0	1	200377456	2203	4300	6503	SO:0001583	missense	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702	"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product					10448078	Standard	NM_012482	Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1378A>G	1.37:g.200377456T>C	ENSP00000294740:p.Lys460Glu	A6NF48|B3KMX2|Q5RKW5|Q9NY92	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602047	0.46423	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.07567	3.19;3.19;3.18	5.7	5.7	0.88788	.	0.271893	0.34338	N	0.004057	T	0.10637	0.0260	L	0.44542	1.39	0.34157	D	0.66818	D;D	0.58268	0.982;0.982	P;P	0.51777	0.679;0.679	T	0.03000	-1.1084	10	0.05525	T	0.97	-8.5188	10.3232	0.43777	0.0:0.0732:0.0:0.9268	.	424;460	A6NF48;Q9Y2X9	.;ZN281_HUMAN	E	460;460;424;165	ENSP00000294740:K460E;ENSP00000356322:K460E;ENSP00000356321:K424E	ENSP00000294740:K460E	K	-	1	0	ZNF281	198644079	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.414000	0.52693	2.153000	0.67306	0.533000	0.62120	AAG	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2		78.568303	0	-8	50	0	0	1	0	NM_012482	25	78.708236	31	0.446429
ZNF747	65988	broad.mit.edu	hg19	16	30544430	30544430	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr16:30544430G>A	ENST00000252799.3	-	2	1193	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ZNF747_ENST00000569360.1_Missense_Mutation_p.T128M|ZNF747_ENST00000535210.1_Missense_Mutation_p.T128M|ZNF747_ENST00000395094.3_Missense_Mutation_p.R175W|ZNF747_ENST00000568028.1_Missense_Mutation_p.T128M	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	176		regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	kidney(1)|lung(3)|prostate(1)	5					CAGGGCTCCCGTCCCTTCCCT	0.602	0	82.0	83.0	83.0	16	30544430	2197	4300	6497	SO:0001583	missense	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955	"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product					10493829	Standard	NM_023931	Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000569360.1:c.383C>T	16.37:g.30544430G>A	ENSP00000454241:p.Thr128Met	A8K827|B7WNU3|Q59FB4|Q96NW0	ENST00000569360.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.889307|1.889307	0.33348|0.33348	2.28E-4|2.28E-4	1.16E-4|1.16E-4	ENSG00000169955|ENSG00000169955	ENST00000252799;ENST00000395094|ENST00000535210	T;T|T	0.02552|0.04862	4.3;4.25|3.54	2.73|2.73	-1.19|-1.19	0.09585|0.09585	.|.	.|.	.|.	.|.	.|.	T|T	0.03434|0.03434	0.0099|0.0099	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.47459|0.47459	-0.9116|-0.9116	9|7	0.72032|0.33141	D|T	0.01|0.24	.|.	8.0234|8.0234	0.30423|0.30423	0.1104:0.2932:0.5964:0.0|0.1104:0.2932:0.5964:0.0	.|.	175;176|.	Q9BV97-2;Q9BV97|.	.;ZN747_HUMAN|.	W|M	176;175|128	ENSP00000252799:R176W;ENSP00000378528:R175W|ENSP00000441702:T128M	ENSP00000252799:R176W|ENSP00000441702:T128M	R|T	-|-	1|2	2|0	ZNF747|ZNF747	30451931|30451931	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.084000|0.084000	0.17831|0.17831	0.445000|0.445000	0.21677|0.21677	-0.254000|-0.254000	0.09500|0.09500	-1.786000|-1.786000	0.00637|0.00637	CGG|ACG	ZNF747-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000434393.1		-5.616991	0	-21	46	0	0	1	0	NM_023931	3	6.430536	54	0.052632
LMOD3	56203	broad.mit.edu	hg19	3	69168367	69168367	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr3:69168367G>A	ENST00000420581.2	-	2	1318	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	LMOD3_ENST00000475434.1_Missense_Mutation_p.P380L|LMOD3_ENST00000489031.1_Missense_Mutation_p.P380L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	380			cytoplasm|cytoskeleton	tropomyosin binding	breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	TCTGGGACCCGGAAGCTCAAA	0.473	0	112.0	107.0	109.0	3	69168367	1902	4116	6018	SO:0001583	missense	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380		6649	protein-coding gene	gene with protein product						Standard	NM_198271	Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1139C>T	3.37:g.69168367G>A	ENSP00000414670:p.Pro380Leu	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	ENST00000420581.2	37	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826465	0.71143	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.92699	-3.09;-3.09;-3.09	5.84	5.84	0.93424	.	0.049022	0.85682	D	0.000000	D	0.95050	0.8397	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	D	0.94874	0.8033	10	0.72032	D	0.01	-15.7896	20.1466	0.98079	0.0:0.0:1.0:0.0	.	380	Q0VAK6	LMOD3_HUMAN	L	380	ENSP00000414670:P380L;ENSP00000417210:P380L;ENSP00000418645:P380L	ENSP00000414670:P380L	P	-	2	0	LMOD3	69251057	1.000000	0.71417	0.507000	0.27676	0.890000	0.51754	7.876000	0.87215	2.779000	0.95612	0.591000	0.81541	CCG	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1		7.543280	0	-7	91	0	0	1	0	XM_067529	8	19.566647	69	0.103896
SMG7	9887	broad.mit.edu	hg19	1	183502394	183502394	+	Missense_Mutation	SNP	T	T	G			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:183502394T>G	ENST00000367537.3	+	10	1221	c.1026T>G	c.(1024-1026)aaT>aaG	p.N342K	SMG7_ENST00000508461.1_Missense_Mutation_p.N271K|SMG7_ENST00000507469.1_Missense_Mutation_p.N313K|SMG7_ENST00000515829.2_Missense_Mutation_p.N313K|SMG7_ENST00000347615.2_Missense_Mutation_p.N313K|SMG7_ENST00000456731.2_Missense_Mutation_p.N271K			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	313		mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46					ACTTTAGCAATGAAACCGAGC	0.418	0	226.0	209.0	215.0	1	183502394	2203	4300	6503	SO:0001583	missense	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698		16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16	14636577, 15721257	Standard	NM_173156	Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.939T>G	1.37:g.183502394T>G	ENSP00000340766:p.Asn313Lys	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	ENST00000347615.2	37	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	T	3.627	-0.076412	0.07184	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.81	0.93	0.19454	.	0.238105	0.42821	D	0.000644	T	0.08891	0.0220	N	0.19112	0.55	0.49687	D	0.999814	B;B;B;B;B;B	0.24317	0.101;0.002;0.001;0.002;0.007;0.005	B;B;B;B;B;B	0.22152	0.038;0.01;0.004;0.006;0.013;0.016	T	0.28396	-1.0045	10	0.08179	T	0.78	-5.7791	11.0757	0.48030	0.0:0.4007:0.0:0.5993	.	271;342;271;313;313;313	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	K	271;342;271;271;313;313;313	ENSP00000407629:N271K;ENSP00000356507:N342K;ENSP00000426915:N271K;ENSP00000388390:N271K;ENSP00000340766:N313K;ENSP00000425133:N313K;ENSP00000421358:N313K	ENSP00000340766:N313K	N	+	3	2	SMG7	181769017	0.845000	0.29573	0.996000	0.52242	0.963000	0.63663	-0.097000	0.11042	-0.080000	0.12685	0.533000	0.62120	AAT	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1		-40.508057	0	-64	175	0	0	1	0	NM_014837	5	9.540697	195	0.025000
SLC6A19	340024	ucsc.edu	hg19	5	1210680	1210680	+	Silent	SNP	C	C	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab																										ACTGCCCGCTCAACGAGAACC	0.542	0	73.0	68.0	70.0	5	1210680	2203	4300	6503	SO:0001819	synonymous_variant	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358	"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893				Standard	NM_001003841	Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.465C>A	5.37:g.1210680C>A		A8K446	ENST00000304460.10	37	CCDS34130.1																																																																																			SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1				-15	26					XM_291120	4		26	
GNAQ	2776	broad.mit.edu	hg19	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	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		107.971932	0	-3	109	0	0	1	0	NM_002072	33	107.984741	35	0.485294
NCAN	1463	broad.mit.edu	hg19	19	19349148	19349148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr19:19349148G>T	ENST00000252575.6	+	11	3436	c.3337G>T	c.(3337-3339)Gag>Tag	p.E1113*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.E564*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		C-type lectin.	axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		GGAAGATGCCGAGAAGGACTG	0.632	0	45.0	52.0	50.0	19	19349148	2203	4300	6503	SO:0001587	stop_gained	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287	"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3	1326557, 21353194	Standard	NM_004386	Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3337G>T	19.37:g.19349148G>T	ENSP00000252575:p.Glu1113*	Q9UPK6	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	39	7.464936	0.98299	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	.	.	.	4.75	4.75	0.60458	.	0.220233	0.23912	N	0.043340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3064	0.73995	0.0:0.0:1.0:0.0	.	.	.	.	X	1127;1113;564	.	ENSP00000252575:E1113X	E	+	1	0	NCAN	19210148	1.000000	0.71417	0.971000	0.41717	0.938000	0.57974	9.506000	0.97992	2.464000	0.83262	0.561000	0.74099	GAG	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2		-5.015774	1	-2	56	0	1	1	1	NM_004386	3	6.478313	52	0.054545
CYP2C8	1558	broad.mit.edu	hg19	10	96798695	96798695	+	Missense_Mutation	SNP	C	C	T	rs141209951	byFrequency	TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr10:96798695C>T	ENST00000371270.3	-	8	1344	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	CYP2C8_ENST00000535898.1_Missense_Mutation_p.G315D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	417		exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	CTTAAAGTTGCCATTCTTATC	0.368	0	116.0	108.0	111.0	10	96798695	2203	4300	6503	SO:0001583	missense	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115	"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""		7841444	Standard	NM_001198853	Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1250G>A	10.37:g.96798695C>T	ENSP00000360317:p.Gly417Asp	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	ENST00000371270.3	37	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501172	0.44455	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898	T;T	0.71341	-0.56;-0.56	4.09	3.19	0.36642	.	0.070459	0.56097	U	0.000029	D	0.84266	0.5434	M	0.90082	3.085	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.71870	0.957;0.975;0.957	D	0.85721	0.1325	10	0.87932	D	0	.	9.7771	0.40626	0.0:0.8959:0.0:0.1041	.	315;385;417	B7Z1F6;B7Z8S1;P10632	.;.;CP2C8_HUMAN	D	417;384;315	ENSP00000360317:G417D;ENSP00000445062:G315D	ENSP00000360317:G417D	G	-	2	0	CYP2C8	96788685	0.995000	0.38212	0.555000	0.28281	0.234000	0.25298	3.404000	0.52623	1.067000	0.40740	0.591000	0.81541	GGC	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2		-5.057291	0	-16	90	0	0	1	0	NM_000770	4	8.532786	63	0.059701
PSG1	0	broad.mit.edu	hg19	19	43382400	43382400	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr19:43382400G>A	ENST00000244296.2	-	2	232	c.95C>T	c.(94-96)aCc>aTc	p.T32I	PSG1_ENST00000436291.2_Missense_Mutation_p.T32I|PSG1_ENST00000595356.1_Missense_Mutation_p.T32I|PSG1_ENST00000312439.6_Missense_Mutation_p.T32I|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.T32I|PSG1_ENST00000595124.1_Missense_Mutation_p.T32I	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1						breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)			TTGGGCAGTGGTGGGCAGGTT	0.488	0	141.0	153.0	149.0	19	43382400	2203	4299	6502	SO:0001583	missense		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1		Standard	NM_006905	Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000244296.2:c.95C>T	19.37:g.43382400G>A	ENSP00000244296:p.Thr32Ile	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	ENST00000244296.2	37	CCDS12612.1	.	.	.	.	.	.	.	.	.	.	N	5.996	0.367739	0.11352	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.39592	1.08;5.64;1.07;1.11	1.64	-0.684	0.11331	.	.	.	.	.	T	0.44582	0.1300	M	0.67397	2.05	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.32507	0.329;0.052;0.047;0.024;0.09;0.106;0.373;0.026;0.071	B;B;B;B;B;B;B;B;B	0.43575	0.248;0.093;0.067;0.049;0.037;0.16;0.424;0.025;0.106	T	0.51616	-0.8683	9	0.66056	D	0.02	.	4.1776	0.10360	0.4059:0.0:0.5941:0.0	.	32;32;32;32;32;32;32;32;32	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	I	32	ENSP00000413041:T32I;ENSP00000385386:T32I;ENSP00000308970:T32I;ENSP00000244296:T32I	ENSP00000244296:T32I	T	-	2	0	PSG1	48074240	0.021000	0.18746	0.006000	0.13384	0.002000	0.02628	-0.520000	0.06252	-0.084000	0.12595	-1.207000	0.01640	ACC	PSG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321427.1		357.450827	0	-86	183	0	0	1	0		110	358.985344	74	0.597826
HIAT1	64645	broad.mit.edu	hg19	1	100503800	100503802	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:100503800_100503802delGAA	ENST00000370152.3	+	1	148_150	c.12_14delGAA	c.(10-15)gggaag>ggg	p.K8del		NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	8	Poly-Lys.	transmembrane transport	integral to membrane|plasma membrane	transporter activity	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	TGACCCAGGGGAAGAAGAAGAAA	0.635	0									SO:0001651	inframe_deletion	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875		23363	protein-coding gene	gene with protein product					9299464	Standard	NM_033055	Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.12_14delGAA	1.37:g.100503809_100503811delGAA	ENSP00000359171:p.Lys8del	Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	ENST00000370152.3	37	CCDS763.1																																																																																			HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	.	.		-6	4					NM_033055	2		4	0.33
RP11-143J24.1	0	broad.mit.edu	hg19	15	30298072	30298072	+	RNA	DEL	T	T	-			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr15:30298072delT	ENST00000561392.1	-	0	138																					AATTAATTTGTTTTTTTTCCT	0.299	0																																				15.37:g.30298072delT			ENST00000561392.1	37																																																																																				RP11-143J24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000417288.1	.	.		-2	8						2		4	0.33