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	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	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	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
HTRA1	5654	broad.mit.edu	37	10	124266340	124266340	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr10:124266340G>A	ENST00000368984.3	+	4	1039	c.911G>A	c.(910-912)gGc>gAc	p.G304D		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1			17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)			CAGCGAGGCGGCAAAGAGCTG	0.617000																								0							SO:0001583	missense			ENST00000368984.3	0	1	hg19	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241471	0.95272	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	D;D	0.88201	-2.35;-2.34	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	L	0.31065	0.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92821	0.6272	10	0.87932	D	0	-14.1768	18.8615	0.92273	0.0:0.0:1.0:0.0	.	304	Q92743	HTRA1_HUMAN	D	304;271;45	ENSP00000357980:G304D;ENSP00000412676:G45D	ENSP00000357980:G304D	G	+	2	0	HTRA1	124256330	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.613000	0.98350	2.456000	0.83038	0.655000	0.94253	GGC		TCGA-FB-AAPZ-01A-11D-A40W-08	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	0	0	0	6	289	0	65	0	8.951188e-01	0	197	0	65	2		0	0	0	0	0	2	1	9.642824e-01	6	286	0	65	2								-2.823622	1	1	0	0		1	1	3	4	2.062720	1	0.680000	3.130000	0.770511	1.000000e-01	3.000000e-02	1.000000	0.090000	0.309835	1.000000e-01	0	5.000000e-02	1
MKI67	4288	broad.mit.edu	37	10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	rs117795868	by1000genomes	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			TGGTTTGGGCGTAAGCATGGC	0.463000																								0							SO:0001583	missense			ENST00000368654.3	0	1	hg19	CCDS7659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.05	1.822665	0.32237	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.74	1.83	0.25207	.	1.848640	0.03443	N	0.209516	T	0.15998	0.0385	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.96;0.991;0.989	T	0.06058	-1.0848	10	0.52906	T	0.07	.	5.4955	0.16799	0.1565:0.0:0.8435:0.0	.	1175;816;1176	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1176;816;1175	ENSP00000357643:T1176M;ENSP00000357642:T816M	ENSP00000357642:T816M	T	-	2	0	MKI67	129796567	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.110000	0.15437	0.740000	0.32651	0.462000	0.41574	ACG		TCGA-FB-AAPZ-01A-11D-A40W-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	0	7	1189	1	233	0	5.012524e-05	0	2	1	233	2		0	0	0	0	0	2	0	1.935142e-02	7	1173	1	229	18								-2.031104	0	1	121412	29	52	1	1	3	4	2.079943	1	0.680000	3.130000	0.769386	3.000000e-02	0	1.000000	0.030000	0.261777	3.000000e-02	0	1.000000e-02	1
GLYAT	10249	broad.mit.edu	37	11	58477299	58477299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:58477299G>T	ENST00000344743.3	-	6	972	c.831C>A	c.(829-831)taC>taA	p.Y277*	GLYAT_ENST00000529732.1_Nonsense_Mutation_p.Y277*	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase			16		Breast(21;0.0044)|all_epithelial(135;0.0157)		Glycine(DB00145)	GTTGCAGTGTGTAACTCATTT	0.463000																								0							SO:0001587	stop_gained			ENST00000344743.3	0	1	hg19	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064053	0.36373	.	.	ENSG00000149124	ENST00000344743;ENST00000529732	.	.	.	6.06	-0.557	0.11800	.	2.072040	0.02028	N	0.048337	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6363	1.6509	0.02771	0.2466:0.3236:0.3044:0.1255	.	.	.	.	X	277	.	ENSP00000340200:Y277X	Y	-	3	2	GLYAT	58233875	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.083000	0.11286	-0.048000	0.13401	-0.912000	0.02778	TAC		TCGA-FB-AAPZ-01A-11D-A40W-08	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1	0	0	0	5	245	1	60		0	0	0	1	60	2		0	0	0	0	0	2	0	1.710635e-02	5	242	1	59	15								-3.336917	1	1	0	0		1	0	2	2	1.488230	1	0.680000	3.130000	0.680000	6.000000e-02	1.000000e-02	0.130000	0.060000	0.069868	6.000000e-02	0	3.000000e-02	1.000000e-01
ANO1	55107	broad.mit.edu	37	11	69978186	69978186	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:69978186G>A	ENST00000355303.5	+	11	1563		c.e11+1		ANO1_ENST00000316296.5_Splice_Site|ANO1_ENST00000398543.2_Splice_Site|ANO1_ENST00000530676.1_Splice_Site|RP11-805J14.3_ENST00000530525.1_RNA|ANO1_ENST00000531349.1_Splice_Site|ANO1_ENST00000538023.1_Splice_Site	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel			29				Crofelemer(DB04941)	GCCCTCTGGGGTAAGCAGGGC	0.597000																								0							SO:0001630	splice_region_variant			ENST00000355303.5	1	1	hg19	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981281	0.74474	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	.	.	.	4.77	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3645	0.66795	0.0:0.0:0.8509:0.1491	.	.	.	.	.	-1	.	.	.	+	.	.	ANO1	69655834	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.683000	0.84093	0.995000	0.38917	0.555000	0.69702	.		TCGA-FB-AAPZ-01A-11D-A40W-08	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	1	0	1	19	55	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.999944e-01	18	52	0	15	2								-20.000000	1	1	0	0		1	2	3	5	2.180428	1	0.680000	3.130000	0.789501	9.900000e-01	7.700000e-01	1.000000	1.000000	0.980110	9.900000e-01	1	9.800000e-01	1
CLEC1B	51266	broad.mit.edu	37	12	10147796	10147796	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:10147796C>A	ENST00000298527.6	-	5	667	c.488G>T	c.(487-489)cGc>cTc	p.R163L	CLEC1B_ENST00000348658.4_Missense_Mutation_p.R130L|CLEC1B_ENST00000428126.2_Missense_Mutation_p.R130L	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B			19					CGACTTCTGGCGAGATAATCC	0.433000																								0							SO:0001583	missense			ENST00000298527.6	1	1	hg19	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236215	0.58886	.	.	ENSG00000165682	ENST00000398937;ENST00000428126;ENST00000298527;ENST00000348658;ENST00000398939	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	3.83	3.83	0.44106	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.49305	D	0.000156	T	0.42539	0.1207	M	0.80332	2.49	0.44268	D	0.997128	D;D	0.89917	0.999;1.0	D;D	0.85130	0.99;0.997	T	0.39583	-0.9607	10	0.13853	T	0.58	.	11.1397	0.48396	0.0:1.0:0.0:0.0	.	130;163	Q9P126-2;Q9P126	.;CLC1B_HUMAN	L	70;130;163;130;70	ENSP00000381910:R70L;ENSP00000406338:R130L;ENSP00000298527:R163L;ENSP00000327169:R130L	ENSP00000298527:R163L	R	-	2	0	CLEC1B	10039063	0.991000	0.36638	0.902000	0.35471	0.685000	0.39939	2.087000	0.41653	1.954000	0.56735	0.298000	0.19748	CGC		TCGA-FB-AAPZ-01A-11D-A40W-08	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	1	0	0	92	1996	0	355		0	0	0	0	355	2		0	0	0	0	0	2	1	1	92	1968	1	347	20								-6.101907	1	1	0	0		1	2	2	4	2.317841	1	0.680000	3.130000	0.800648	2.000000e-01	1.500000e-01	1.000000	0.220000	0.280063	2.000000e-01	0	1.700000e-01	2.500000e-01
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-FB-AAPZ-01A-11D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	79	154	0	76	1	9.803785e-01	3	12	0	76	2	1	1	112	196	0	283	2	1	1	80	151	0	73	2								-20.000000	1	1	0	0		1	2	2	4	2.372814	1	0.680000	3.130000	0.805589	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
NTF3	4908	broad.mit.edu	37	12	5603793	5603793	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:5603793G>A	ENST00000331010.6	+	1	496	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R151Q	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	p.R138Q(1)		22					CGGCGGAAACGGTACGCGGAG	0.602000													GBM(194;1104 2182 8339 9578 18493)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000331010.6	1	1	hg19	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265075	0.80358	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.70516	-0.49;-0.49	5.52	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	M	0.89601	3.045	0.47214	D	0.999355	P;D	0.54601	0.892;0.967	B;B	0.35859	0.212;0.212	T	0.76143	-0.3067	10	0.87932	D	0	-11.5385	11.2247	0.48877	0.1475:0.0:0.8525:0.0	.	138;151	P20783;B7Z1T5	NTF3_HUMAN;.	Q	151;138	ENSP00000397297:R151Q;ENSP00000328738:R138Q	ENSP00000328738:R138Q	R	+	2	0	NTF3	5474054	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	9.869000	0.99810	0.724000	0.32296	0.591000	0.81541	CGG		TCGA-FB-AAPZ-01A-11D-A40W-08	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1	1	0	1	225	286	1	64	0	0	0	1	1	64	2		0	0	0	0	0	2	1	1	221	285	1	61	25								-20.000000	1	1	0	0		1	2	2	4	2.317841	1	0.680000	3.130000	0.800648	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
VWF	7450	broad.mit.edu	37	12	6105363	6105363	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:6105363C>T	ENST00000261405.5	-	35	6122	c.5868G>A	c.(5866-5868)cgG>cgA	p.R1956R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor			129				Antihemophilic Factor(DB00025)	TCACGATGTGCCGAGTGGAGC	0.522000																								0							SO:0001819	synonymous_variant			ENST00000261405.5	0	1	hg19	CCDS8539.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	0	0	0	4	162	0	41	0	6.840568e-01	0	90	0	41	2		0	0	0	0	0	2	1	8.870172e-01	4	159	0	41	2								-5.942028	1	1	0	0		1	2	2	4	2.317841	1	0.680000	3.130000	0.800648	1.300000e-01	3.000000e-02	1.000000	0.110000	0.216619	1.300000e-01	0	7.000000e-02	2.400000e-01
SKA3	221150	broad.mit.edu	37	13	21742393	21742393	+	Silent	SNP	T	T	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr13:21742393T>A	ENST00000314759.5	-	4	601	c.477A>T	c.(475-477)tcA>tcT	p.S159S	SKA3_ENST00000400018.3_Silent_p.S159S	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3			19					GTCCAAAATCTGAAAGTTGTG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000314759.5	0	1	hg19	CCDS31946.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	0	0	0	5	576	0	100	0	2.475119e-03	0	7	0	100	2		0	0	0	0	0	2	0	9.345952e-01	1	569	0	99	2								-4.628092	1	0	0	0		1	2	4	6	2.072044	1	0.680000	3.130000	0.779128	4.000000e-02	0	1.000000	0.030000	0.247000	4.000000e-02	0	1.000000e-02	1
BEGAIN	57596	broad.mit.edu	37	14	101004539	101004539	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:101004539C>T	ENST00000355173.2	-	7	1620	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	BEGAIN_ENST00000443071.2_Missense_Mutation_p.E517K|BEGAIN_ENST00000556751.1_Missense_Mutation_p.E453K|CTD-2062F14.3_ENST00000553301.1_lincRNA	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated			14		Melanoma(154;0.212)			TCCCCCCCCTCGCTGGGTGCA	0.731000													NSCLC(159;1889 2010 9965 27479 40101)											0							SO:0001583	missense			ENST00000355173.2	0	1	hg19	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	c	12.23	1.875165	0.33162	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.72	3.83	0.44106	.	0.564050	0.18819	N	0.130300	T	0.56031	0.1958	L	0.54323	1.7	0.42735	D	0.993725	B	0.28971	0.229	B	0.24269	0.052	T	0.52238	-0.8602	9	0.28530	T	0.3	.	14.6592	0.68858	0.0:0.8449:0.1551:0.0	.	517	Q9BUH8	BEGIN_HUMAN	K	517;453;517	.	ENSP00000347301:E517K	E	-	1	0	BEGAIN	100074292	1.000000	0.71417	0.893000	0.35052	0.164000	0.22412	3.288000	0.51739	0.948000	0.37687	0.450000	0.29827	GAG		TCGA-FB-AAPZ-01A-11D-A40W-08	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	1	0	0	21	21	0	14	1	8.753438e-01	5	1	0	14	2		0	0	0	0	0	2	1	9.999989e-01	18	17	0	12	2								-20.000000	1	1	0	0		1	2	6	8	2.304479	1	0.680000	3.130000	0.798944	9.900000e-01	9.900000e-01	1.000000	1.000000	0.999999	9.900000e-01	1	9.900000e-01	1
OR4Q3	441669	broad.mit.edu	37	14	20215715	20215715	+	Silent	SNP	C	C	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:20215715C>A	ENST00000331723.1	+	1	129	c.129C>A	c.(127-129)ctC>ctA	p.L43L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3			47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		TGGGAAACCTCTTGATAGTGG	0.408000																								0							SO:0001819	synonymous_variant			ENST00000331723.1	1	1	hg19	CCDS32020.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2	1	0	0	438	436	1	169		0	0	0	1	169	2		0	0	0	0	0	2	1	1	426	427	1	167	18								-20.000000	1	1	0	0		1						0.680000	3.130000									0	0
SYNE2	23224	broad.mit.edu	37	14	64681074	64681074	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:64681074G>A	ENST00000344113.4	+	106	19431	c.19219G>A	c.(19219-19221)Gag>Aag	p.E6407K	SYNE2_ENST00000357395.3_Missense_Mutation_p.E2792K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6407K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3041K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Missense_Mutation_p.E285K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6349K|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2792K|SYNE2_ENST00000458046.2_Missense_Mutation_p.E41K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E190K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					GTCTGGCTGCGAGACCCCTGT	0.632000																								0							SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923682	0.73213	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046	T;T;T;T;T;T;T;T;T	0.65549	0.24;3.64;0.23;-0.16;3.64;3.64;3.47;2.98;2.5	5.27	5.27	0.74061	.	0.000000	0.50627	D	0.000114	T	0.78220	0.4249	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.991;0.999;0.973;0.989;0.975;0.997	T	0.79374	-0.1830	10	0.72032	D	0.01	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	41;2792;41;795;6349;6407;6407	B4DND7;Q8WXH0-7;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	K	6407;2792;6407;6349;6355;3041;2792;285;190;41	ENSP00000350719:E6407K;ENSP00000349969:E2792K;ENSP00000341781:E6407K;ENSP00000452570:E6349K;ENSP00000450831:E3041K;ENSP00000378249:E2792K;ENSP00000451009:E285K;ENSP00000450605:E190K;ENSP00000391937:E41K	ENSP00000261678:E6355K	E	+	1	0	SYNE2	63750827	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	9.411000	0.97342	2.735000	0.93741	0.655000	0.94253	GAG		TCGA-FB-AAPZ-01A-11D-A40W-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	216	230	0	81	1	1	31	57	0	81	2		0	0	0	0	0	2	1	1	215	225	0	79	2								-20.000000	1	1	0	0		1	2	6	8	2.304479	1	0.680000	3.130000	0.798944	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
NRXN3	9369	broad.mit.edu	37	14	79175640	79175640	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:79175640C>T	ENST00000554719.1	+	4	674	c.183C>T	c.(181-183)ggC>ggT	p.G61G	NRXN3_ENST00000335750.5_Silent_p.G61G|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	p.G61G(2)		104		Renal(4;0.00876)			AAATCTATGGCGAAGTTGTGT	0.468000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000554719.1	1	1	hg19	CCDS9870.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	1	0	1	209	201	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	206	199	0	69	2								-20.000000	1	1	121410	2	33	1	2	6	8	2.304479	1	0.680000	3.130000	0.798944	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
ATP10A	57194	broad.mit.edu	37	15	25924552	25924552	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr15:25924552C>T	ENST00000356865.6	-	21	4547	c.4436G>A	c.(4435-4437)cGa>cAa	p.R1479Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A			103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)			AAGTCCTGATCGGCCTGAGTG	0.512000																								0							SO:0001583	missense			ENST00000356865.6	1	1	hg19	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318296	0.23994	.	.	ENSG00000206190	ENST00000356865	T	0.10382	2.88	5.12	3.19	0.36642	.	6.590700	0.00166	N	0.000007	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	P	0.44006	0.824	B	0.28011	0.085	T	0.32955	-0.9887	10	0.25751	T	0.34	11.1915	6.8241	0.23872	0.0:0.7845:0.0:0.2155	.	1479	O60312	AT10A_HUMAN	Q	1479	ENSP00000349325:R1479Q	ENSP00000349325:R1479Q	R	-	2	0	ATP10A	23475645	0.021000	0.18746	0.001000	0.08648	0.005000	0.04900	0.520000	0.22878	0.688000	0.31529	0.655000	0.94253	CGA		TCGA-FB-AAPZ-01A-11D-A40W-08	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	0	19	272	0	71	0	3.239395e-01	0	17	0	71	2		0	0	0	0	0	2	1	9.999909e-01	19	268	0	68	2								-3.017663	1	1	0	0		1	0	2	2	1.519396	1	0.680000	3.130000	0.680000	1.900000e-01	1.100000e-01	0.290000	0.190000	0.200423	1.900000e-01	0	1.500000e-01	2.400000e-01
FEM1B	10116	broad.mit.edu	37	15	68570843	68570843	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr15:68570843A>G	ENST00000306917.4	+	1	703	c.88A>G	c.(88-90)Agc>Ggc	p.S30G	RP11-315D16.4_ENST00000563057.1_lincRNA	NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)			9					CCGGTCTGAAAGCGACATCCG	0.632000																								0							SO:0001583	missense			ENST00000306917.4	1	1	hg19	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.041286	0.35989	.	.	ENSG00000169018	ENST00000306917	T	0.53640	0.61	4.29	4.29	0.51040	Ankyrin repeat-containing domain (1);	0.316936	0.33854	N	0.004490	T	0.24736	0.0600	N	0.08118	0	0.27961	N	0.936787	B	0.15473	0.013	B	0.14023	0.01	T	0.11203	-1.0597	10	0.23302	T	0.38	-27.3124	8.8849	0.35398	0.8112:0.1887:0.0:0.0	.	30	Q9UK73	FEM1B_HUMAN	G	30	ENSP00000307298:S30G	ENSP00000307298:S30G	S	+	1	0	FEM1B	66357897	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.542000	0.53625	1.812000	0.52913	0.454000	0.30748	AGC		TCGA-FB-AAPZ-01A-11D-A40W-08	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1	1	0	0	127	62	0	52	0	9.995515e-01	1	9	0	52	2		0	0	0	0	0	2	1	1	125	61	0	50	2								-20.000000	1	1	0	0		1	0	2	2	1.519396	1	0.680000	3.130000	0.680000	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
ACSM3	6296	broad.mit.edu	37	16	20781387	20781387	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:20781387C>T	ENST00000289416.5	+	2	506	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	ACSM3_ENST00000450120.2_5'Flank|ACSM3_ENST00000440284.2_Missense_Mutation_p.R11C	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3			21					GAAGATGCTACGTCATGCCAA	0.438000																								0							SO:0001583	missense			ENST00000289416.5	1	1	hg19	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	C	5.071	0.198692	0.09652	.	.	ENSG00000005187	ENST00000289416;ENST00000440284	T;T	0.44083	0.93;1.68	5.91	0.758	0.18432	.	0.674484	0.14670	N	0.305411	T	0.23014	0.0556	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16335	-1.0406	10	0.37606	T	0.19	-2.0692	8.0878	0.30782	0.0:0.5219:0.0:0.4781	.	11;11	Q53FZ2;Q53FZ2-2	ACSM3_HUMAN;.	C	11	ENSP00000289416:R11C;ENSP00000394565:R11C	ENSP00000289416:R11C	R	+	1	0	ACSM3	20688888	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.634000	0.24614	0.132000	0.18615	-0.137000	0.14449	CGT		TCGA-FB-AAPZ-01A-11D-A40W-08	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	1	0	1	174	112	0	81	0	9.168836e-01	1	4	0	81	2		0	0	0	0	0	2	1	1	169	106	0	79	2								-20.000000	1	1	0	0		1	0	2	2	1.473083	1	0.680000	3.130000	0.680000	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
CDIPT	10423	broad.mit.edu	37	16	29872467	29872467	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:29872467T>C	ENST00000219789.6	-	3	1170	c.292A>G	c.(292-294)Atg>Gtg	p.M98V	CDIPT_ENST00000569956.1_Missense_Mutation_p.M98V|CDIPT-AS1_ENST00000398859.3_RNA|CDIPT-AS1_ENST00000565014.1_RNA|CDIPT_ENST00000567459.1_5'Flank|CDIPT_ENST00000566113.1_Missense_Mutation_p.M53V|CDIPT_ENST00000570016.1_Missense_Mutation_p.M98V|CDIPT_ENST00000563415.1_Missense_Mutation_p.M98V|CDIPT_ENST00000561555.1_Missense_Mutation_p.M122V	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase			4					TCCAAACTCATGCTGATTTGG	0.607000																								0							SO:0001583	missense			ENST00000219789.6	1	1	hg19	CCDS10657.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.156835	0.38119	.	.	ENSG00000103502	ENST00000219789;ENST00000403894	T	0.39056	1.1	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	N	0.21142	0.635	0.58432	D	0.999994	B;B;P	0.50943	0.104;0.048;0.94	B;B;P	0.44946	0.051;0.086;0.465	T	0.05989	-1.0852	10	0.24483	T	0.36	-15.9386	14.0659	0.64828	0.0:0.0:0.0:1.0	.	53;98;122	B4DUV0;O14735;B3KY94	.;CDIPT_HUMAN;.	V	98;151	ENSP00000219789:M98V	ENSP00000219789:M98V	M	-	1	0	CDIPT	29779968	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.797000	0.75150	2.220000	0.72140	0.533000	0.62120	ATG		TCGA-FB-AAPZ-01A-11D-A40W-08	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	1	0	1	81	99	0	28	1	1	4	80	0	28	2		0	0	0	0	0	2	1	1	76	99	0	28	2								-20.000000	1	1	0	0		1	3	4	7	2.188718	1	0.680000	3.130000	0.788079	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
ZNF48	197407	broad.mit.edu	37	16	30410328	30410328	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:30410328G>A	ENST00000320159.2	+	2	2133	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48			21					AGTTCTGCCCGCATCAAGCAC	0.592000																								0							SO:0001583	missense			ENST00000320159.2	0	1	hg19	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709960	0.30322	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.28454	1.61	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34507	N	0.003901	T	0.19765	0.0475	N	0.24115	0.695	0.27017	N	0.964547	B	0.26363	0.147	B	0.13407	0.009	T	0.14896	-1.0456	10	0.87932	D	0	-16.7957	10.3576	0.43974	0.0:0.0:0.8042:0.1958	.	586	Q96MX3	ZNF48_HUMAN	H	711;586	ENSP00000324056:R586H	ENSP00000324056:R586H	R	+	2	0	ZNF48	30317829	0.193000	0.23313	0.954000	0.39281	0.780000	0.44128	1.880000	0.39628	2.556000	0.86216	0.557000	0.71058	CGC		TCGA-FB-AAPZ-01A-11D-A40W-08	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	0	0	0	6	570	0	87	0	1.740175e-02	0	16	0	87	2		0	0	0	0	0	2	1	9.639753e-01	6	564	0	86	2								-1.813077	0	1	0	0		1	3	4	7	2.188718	1	0.680000	3.130000	0.788079	5.000000e-02	0	1.000000	0.040000	0.243486	5.000000e-02	0	2.000000e-02	1
ADAMTS18	170692	broad.mit.edu	37	16	77327045	77327045	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:77327045C>T	ENST00000282849.5	-	20	3535	c.3117G>A	c.(3115-3117)ctG>ctA	p.L1039L	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18			118					AGCCCTCCTGCAGCTCAGGTC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000282849.5	1	1	hg19	CCDS10926.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	1	0	1	154	288	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	152	285	0	80	2								-20.000000	1	1	0	0		1	2	2	4	2.341113	1	0.680000	3.130000	0.803150	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	GRCh37	CM951226	TP53	M		SO:0001587	stop_gained	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		TCGA-FB-AAPZ-01A-11D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	117	54	0	30	1	1	3	22	0	30	2	1	1	641	287	2	1068	7	1	1	116	52	0	29	2								-20.000000	1	1	121412	1	30	1	0	3	3	1.690177	1	0.680000	3.130000	0.748428	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
ROCK1	6093	broad.mit.edu	37	18	18625398	18625398	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr18:18625398G>A	ENST00000399799.2	-	5	1385	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1			16	Melanoma(1;0.165)				ACCATGTAGAGATAACGATCA	0.328000																								0							SO:0001583	missense			ENST00000399799.2	1	1	hg19	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699139	0.88830	.	.	ENSG00000067900	ENST00000399799	T	0.69175	-0.38	5.36	4.49	0.54785	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80892	-0.1179	10	0.87932	D	0	.	14.1018	0.65062	0.0719:0.0:0.9281:0.0	.	149	Q13464	ROCK1_HUMAN	F	149	ENSP00000382697:L149F	ENSP00000382697:L149F	L	-	1	0	ROCK1	16879396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	1.485000	0.48380	0.655000	0.94253	CTC		TCGA-FB-AAPZ-01A-11D-A40W-08	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	1	0	1	23	208	0	32	1	6.644365e-01	2	20	0	32	2		0	0	0	0	0	2	1	9.999995e-01	23	208	0	32	2								-20.000000	1	1	0	0		1	1	4	5	2.954331	1	0.680000	3.130000	0.839968	5.900000e-01	3.800000e-01	0.880000	0.590000	0.609078	5.900000e-01	0	4.800000e-01	7.300000e-01
RNF165	494470	broad.mit.edu	37	18	44030346	44030346	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr18:44030346G>A	ENST00000269439.7	+	5	754	c.703G>A	c.(703-705)Gta>Ata	p.V235I	RNF165_ENST00000543885.1_Missense_Mutation_p.V43I	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165			11					CACCTCCGCCGTACGGGAGAG	0.522000																								0							SO:0001583	missense			ENST00000269439.7	1	1	hg19	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653556	0.67472	2.27E-4	0.0	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.22945	2.18;1.93	5.28	5.28	0.74379	.	0.067191	0.64402	D	0.000015	T	0.35913	0.0948	L	0.60455	1.87	0.58432	D	0.999999	D	0.61080	0.989	P	0.49421	0.61	T	0.03852	-1.0998	10	0.20519	T	0.43	.	19.277	0.94036	0.0:0.0:1.0:0.0	.	235	Q6ZSG1	RN165_HUMAN	I	235;43	ENSP00000269439:V235I;ENSP00000444285:V43I	ENSP00000269439:V235I	V	+	1	0	RNF165	42284344	1.000000	0.71417	0.746000	0.31095	0.873000	0.50193	9.420000	0.97426	2.647000	0.89833	0.467000	0.42956	GTA		TCGA-FB-AAPZ-01A-11D-A40W-08	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	1	0	1	76	59	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	76	56	0	47	2								-20.000000	1	1	121412	10	39	1	0	1	1	1.033301	1	0.680000	3.130000	0.517636	9.700000e-01	8.600000e-01	1.000000	1.000000	0.967699	9.700000e-01	1	9.200000e-01	1
ZNF546	339327	broad.mit.edu	37	19	40520572	40520572	+	Silent	SNP	T	T	C			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:40520572T>C	ENST00000347077.4	+	7	1611	c.1395T>C	c.(1393-1395)ggT>ggC	p.G465G	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.G439G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546			34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)				CTCATACTGGTGAGAAACCCT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000347077.4	1	1	hg19	CCDS12548.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	1	0	1	206	312	0	83	0	0	0	1	0	83	2		0	0	0	0	0	2	1	1	205	311	0	78	2								-20.000000	1	1	0	0		1	2	2	4	2.327377	1	0.680000	3.130000	0.801489	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
PSG8	440533	broad.mit.edu	37	19	43259170	43259170	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:43259170G>A	ENST00000306511.4	-	4	1055	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.R320C|PSG8_ENST00000406636.3_Missense_Mutation_p.R198C|PSG8_ENST00000401467.2_Missense_Mutation_p.R227C	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	p.R320C(2)		40		Prostate(69;0.00899)			GGGTAACTGCGGATGCCACCA	0.483000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000306511.4	1	1	hg19	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	4.888	0.164951	0.09287	0.0	1.16E-4	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	1.38	-1.99	0.07457	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25494	0.0620	M	0.78285	2.405	0.09310	N	1	D;P;B;B;B;B	0.69078	0.997;0.594;0.02;0.005;0.005;0.006	P;B;B;B;B;B	0.61397	0.888;0.284;0.009;0.07;0.005;0.009	T	0.13737	-1.0498	9	0.51188	T	0.08	.	2.0334	0.03534	0.2288:0.0:0.475:0.2962	.	198;227;320;227;320;320	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	C	320;198;227;132;227;320	ENSP00000385869:R320C;ENSP00000385081:R198C;ENSP00000386090:R227C;ENSP00000305005:R320C	ENSP00000305005:R320C	R	-	1	0	PSG8	47951010	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.436000	0.02421	-0.117000	0.11872	-1.261000	0.01458	CGC		TCGA-FB-AAPZ-01A-11D-A40W-08	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1	1	0	1	303	475	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	1	296	465	0	134	2								-20.000000	1	1	121404	12	44	1	2	2	4	2.327377	1	0.680000	3.130000	0.801489	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
PSG11	5680	broad.mit.edu	37	19	43523094	43523094	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:43523094C>T	ENST00000401740.1	-	3	640	c.537G>A	c.(535-537)ctG>ctA	p.L179L	PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000320078.7_Silent_p.L179L|PSG11_ENST00000403486.1_Silent_p.L57L|PSG11_ENST00000306322.7_Silent_p.L57L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11			26		Prostate(69;0.00682)			TCATCCACCACAGGTAGCTTG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000401740.1	1	1	hg19	CCDS12614.2																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	1	0	1	768	1165	0	320		0	0	0	0	320	2		0	0	0	0	0	2	1	1	759	1147	0	308	2								-20.000000	1	1	0	0		1	2	2	4	2.327377	1	0.680000	3.130000	0.801489	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
TNNI3	7137	broad.mit.edu	37	19	55665406	55665406	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:55665406T>G	ENST00000344887.5	-	7	683	c.541A>C	c.(541-543)Acc>Ccc	p.T181P	TNNI3_ENST00000588882.1_Missense_Mutation_p.T156P|TNNI3_ENST00000590463.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)			12			BRCA - Breast invasive adenocarcinoma(297;0.209)		ACCTTCTCGGTGTCCTCCTTC	0.627000																								0							SO:0001583	missense			ENST00000344887.5	1	1	hg19	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.337852	0.41398	.	.	ENSG00000129991	ENST00000344887	D	0.94723	-3.5	4.72	2.5	0.30297	.	0.581099	0.16498	N	0.211800	D	0.90079	0.6901	L	0.52573	1.65	0.35660	D	0.81242	B	0.02656	0.0	B	0.01281	0.0	D	0.86432	0.1761	10	0.54805	T	0.06	-21.4095	4.2672	0.10769	0.0:0.1778:0.1798:0.6424	.	181	P19429	TNNI3_HUMAN	P	181	ENSP00000341838:T181P	ENSP00000341838:T181P	T	-	1	0	TNNI3	60357218	1.000000	0.71417	0.968000	0.41197	0.989000	0.77384	3.726000	0.54977	0.714000	0.32081	0.477000	0.44152	ACC		TCGA-FB-AAPZ-01A-11D-A40W-08	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1	0	0	1	254	382	0	96	0	3.508749e-01	1	2	0	96	2		0	0	0	0	0	2	1	1	247	373	0	91	2								-20.000000	1	1	0	0		1	2	2	4	2.455654	1	0.680000	3.130000	0.809524	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
ZNF132	7691	broad.mit.edu	37	19	58944797	58944797	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:58944797G>A	ENST00000254166.3	-	3	2414	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132			19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)			TTCTGGTGCCGAACAAGTGTA	0.448000																								0							SO:0001583	missense			ENST00000254166.3	0	1	hg19	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412314	0.42817	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.26660	1.72	3.05	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44519	0.1297	M	0.75884	2.315	0.09310	N	1	D	0.76494	0.999	D	0.65773	0.938	T	0.11991	-1.0565	9	0.62326	D	0.03	.	7.4495	0.27229	0.0:0.0:0.4465:0.5535	.	672	P52740	ZN132_HUMAN	W	672;387	ENSP00000254166:R672W	ENSP00000254166:R672W	R	-	1	2	ZNF132	63636609	0.000000	0.05858	0.998000	0.56505	0.965000	0.64279	-4.163000	0.00282	1.419000	0.47118	0.650000	0.86243	CGG		TCGA-FB-AAPZ-01A-11D-A40W-08	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	0	0	0	6	423	0	67	0	3.007648e-04	0	2	0	67	2		0	0	0	0	0	2	1	9.641985e-01	6	419	0	65	2								-2.579007	1	1	121412	7	39	1	2	2	4	2.455654	1	0.680000	3.130000	0.809524	7.000000e-02	1.000000e-02	0.150000	0.080000	0.079554	7.000000e-02	0	3.000000e-02	1.100000e-01
GBA	2629	broad.mit.edu	37	1	155209725	155209725	+	Missense_Mutation	SNP	G	G	A	rs1141814		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:155209725G>A	ENST00000327247.5	-	4	491	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	GBA_ENST00000536770.1_Intron|GBA_ENST00000427500.3_Missense_Mutation_p.R87W|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000428024.3_De_novo_Start_OutOfFrame|GBA_ENST00000368373.3_Missense_Mutation_p.R87W	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid			26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)	Velaglucerase alfa(DB06720)	AGCTCCATCCGTCGCCCACTG	0.592000									Gaucher disease type I															0		GRCh37	CM950561	GBA	M	rs1141814	SO:0001583	missense	Familial Cancer Database	glucocerebrosidase insufficiency	ENST00000327247.5	1	0	hg19	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906424	0.33628	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536555;ENST00000402928	D;D;D	0.99652	-4.04;-6.3;-6.3	3.46	1.33	0.21861	.	0.081577	0.45867	N	0.000328	D	0.99278	0.9748	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.973	D	0.99107	1.0845	10	0.87932	D	0	.	3.8119	0.08801	0.1327:0.0:0.6312:0.2361	rs1141814;rs3205618;rs17401365	87;87	B7Z5G2;P04062	.;GLCM_HUMAN	W	87;87;87;44;87	ENSP00000402577:R87W;ENSP00000357357:R87W;ENSP00000314508:R87W	ENSP00000314508:R87W	R	-	1	2	GBA	153476349	1.000000	0.71417	0.240000	0.24138	0.020000	0.10135	2.947000	0.49058	0.802000	0.34089	-0.356000	0.07607	CGG		TCGA-FB-AAPZ-01A-11D-A40W-08	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	1	0	0	13	127	0	26	1	9.005170e-01	2	40	0	26	2		0	0	0	0	0	2	1	9.995996e-01	13	126	0	26	2								-18.808840	1	1	121412	2	32	1	2	3	5	1.933017	0	0.680000	3.130000	0.762400	4.100000e-01	2.100000e-01	1.000000	0.360000	0.521899	4.100000e-01	0	3.000000e-01	1
TAS1R2	80834	broad.mit.edu	37	1	19183978	19183978	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:19183978C>T	ENST00000375371.3	-	2	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2			45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		Aspartame(DB00168)	AGTAGAGCACCGGCTGGACAT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000375371.3	1	1	hg19	CCDS187.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	1	0	0	28	379	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	27	376	0	78	2								-2.473695	0	1	121412	3	38	1	2	3	5	2.022724	1	0.680000	3.130000	0.772727	3.000000e-01	1.900000e-01	1.000000	0.290000	0.457632	3.000000e-01	0	2.400000e-01	1
EPHA8	2046	broad.mit.edu	37	1	22924191	22924191	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:22924191C>T	ENST00000166244.3	+	11	2025	c.1953C>T	c.(1951-1953)taC>taT	p.Y651Y		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8			61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			AAGTCTGCTACGGGAGGCTGC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000166244.3	1	1	hg19	CCDS225.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1	51	147	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1	50	146	0	31	2								-20.000000	1	1	0	0		1	2	3	5	2.022724	1	0.680000	3.130000	0.772727	9.900000e-01	8.400000e-01	1.000000	1.000000	0.983414	9.900000e-01	1	9.600000e-01	1
THRAP3	9967	broad.mit.edu	37	1	36752394	36752394	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:36752394G>A	ENST00000354618.5	+	4	787	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	THRAP3_ENST00000469141.2_Missense_Mutation_p.R188Q	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3			37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			AAGGATAGCCGGCCATCTCAG	0.527000			T	USP6	aneurysmal bone cysts								Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0							SO:0001583	missense			ENST00000354618.5	0	1	hg19	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245450	0.59103	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.13089	2.62;2.62	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	T	0.18173	0.0436	L	0.41236	1.265	0.51233	D	0.999918	D	0.63046	0.992	P	0.45753	0.492	T	0.00273	-1.1858	10	0.54805	T	0.06	-2.4011	18.8828	0.92364	0.0:0.0:1.0:0.0	.	188	Q9Y2W1	TR150_HUMAN	Q	188	ENSP00000346634:R188Q;ENSP00000433825:R188Q	ENSP00000346634:R188Q	R	+	2	0	THRAP3	36524981	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.476000	0.73587	2.711000	0.92665	0.655000	0.94253	CGG		TCGA-FB-AAPZ-01A-11D-A40W-08	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	0	0	0	6	789	0	164	0	1.084992e-01	0	62	0	164	2		0	0	0	0	0	2	1	9.639347e-01	7	780	0	161	2								-2.129839	0	1	0	0		1	2	3	5	2.042750	1	0.680000	3.130000	0.774362	3.000000e-02	0	1.000000	0.030000	0.262045	3.000000e-02	0	1.000000e-02	1
PHACTR3	116154	broad.mit.edu	37	20	58381152	58381152	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr20:58381152C>T	ENST00000371015.1	+	8	1698	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S	PHACTR3_ENST00000395639.4_Missense_Mutation_p.P300S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P370S|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P300S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P408S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P370S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P370S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3			59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		AAGGAACCGGCCAAGCAAACA	0.512000																								0							SO:0001583	missense			ENST00000371015.1	1	1	hg19	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446091	0.84101	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.43688	1.21;1.25;0.94;1.25;1.25;1.25;0.94	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.73467	-0.3973	10	0.66056	D	0.02	-16.2549	17.8596	0.88777	0.0:1.0:0.0:0.0	.	300;411;408	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	S	408;411;300;370;370;370;300	ENSP00000353002:P408S;ENSP00000360054:P411S;ENSP00000379001:P300S;ENSP00000442483:P370S;ENSP00000347866:P370S;ENSP00000378998:P370S;ENSP00000354555:P300S	ENSP00000347866:P370S	P	+	1	0	PHACTR3	57814547	1.000000	0.71417	0.999000	0.59377	0.625000	0.37756	7.818000	0.86416	2.460000	0.83146	0.650000	0.86243	CCA		TCGA-FB-AAPZ-01A-11D-A40W-08	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	0	0	1	459	598	1	143		0	0	0	1	143	2		0	0	0	0	0	2	1	1	457	589	1	139	24								-20.000000	1	1	0	0		1	2	2	4	2.294843	1	0.680000	3.130000	0.798944	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
DSCAM	1826	broad.mit.edu	37	21	42080519	42080519	+	Silent	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr21:42080519G>A	ENST00000400454.1	-	2	699	c.222C>T	c.(220-222)caC>caT	p.H74H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule			142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)			TGGGGTGGACGTGGCGGATCC	0.542000													Melanoma(134;970 1778 1785 21664 32388)											0							SO:0001819	synonymous_variant			ENST00000400454.1	1	1	hg19	CCDS42929.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1	52	366	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	9.999942e-01	52	360	1	77	18								-19.895370	1	1	120894	1	31	1	2	4	6	2.030803	1	0.680000	3.130000	0.770511	5.300000e-01	3.900000e-01	1.000000	0.510000	0.612745	5.300000e-01	0	4.500000e-01	1
MX2	4600	broad.mit.edu	37	21	42749046	42749046	+	Missense_Mutation	SNP	G	G	T	rs142593261		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr21:42749046G>T	ENST00000330714.3	+	2	397	c.213G>T	c.(211-213)caG>caT	p.Q71H	MX2_ENST00000543692.1_Missense_Mutation_p.Q71H	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2			34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)			TGAACAATCAGCCACCACCAG	0.552000																								0							SO:0001583	missense			ENST00000330714.3	1	1	hg19	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923572	0.33908	.	.	ENSG00000183486	ENST00000330714;ENST00000436410;ENST00000435611;ENST00000543692;ENST00000418103	D;D	0.92397	-2.58;-3.03	2.47	1.58	0.23477	.	4.843280	0.00597	N	0.000371	D	0.90407	0.6997	L	0.50333	1.59	0.09310	N	1	P	0.49961	0.93	P	0.44732	0.459	T	0.78957	-0.1999	10	0.59425	D	0.04	.	5.0852	0.14678	0.1707:0.0:0.8293:0.0	.	71	P20592	MX2_HUMAN	H	71	ENSP00000333657:Q71H;ENSP00000446017:Q71H	ENSP00000333657:Q71H	Q	+	3	2	MX2	41670916	0.005000	0.15991	0.002000	0.10522	0.018000	0.09664	1.088000	0.30877	0.614000	0.30107	0.561000	0.74099	CAG		TCGA-FB-AAPZ-01A-11D-A40W-08	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	0	0	1	303	416	1	113	0	9.774018e-01	0	11	1	113	2		0	0	0	0	0	2	1	1	300	404	1	113	21								-20.000000	1	1	0	0		1	2	4	6	2.030803	1	0.680000	3.130000	0.770511	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
RBM45	129831	broad.mit.edu	37	2	178990889	178990889	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:178990889C>G	ENST00000286070.5	+	9	1503	c.1411C>G	c.(1411-1413)Caa>Gaa	p.Q471E	RBM45_ENST00000464647.1_3'UTR	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45			27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		TAACAAACGGCAAAGAACTTA	0.348000																								0							SO:0001583	missense			ENST00000286070.5	1	1	hg19	CCDS33335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.747532|3.747532	0.69533|0.69533	.|.	.|.	ENSG00000155636|ENSG00000155636	ENST00000424099|ENST00000286070	.|T	.|0.05081	.|3.5	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.113073	.|0.64402	.|D	.|0.000007	T|T	0.10252|0.10252	0.0251|0.0251	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.46859	.|0.885	.|B	.|0.42593	.|0.392	T|T	0.02705|0.02705	-1.1121|-1.1121	5|10	.|0.44086	.|T	.|0.13	-14.8272|-14.8272	18.9873|18.9873	0.92777|0.92777	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|471	.|Q8IUH3-3	.|.	G|E	69|471	.|ENSP00000286070:Q471E	.|ENSP00000286070:Q471E	A|Q	+|+	2|1	0|0	RBM45|RBM45	178699135|178699135	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.796000|5.796000	0.69080|0.69080	2.724000|2.724000	0.93272|0.93272	0.655000|0.655000	0.94253|0.94253	GCA|CAA		TCGA-FB-AAPZ-01A-11D-A40W-08	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	1	0	1	112	185	0	61	1	9.996035e-01	6	17	0	61	2		0	0	0	0	0	2	1	1	112	182	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.002322	0	0.680000	3.130000	0.732710	9.900000e-01	9.900000e-01	1.000000	1.000000	0.999995	9.900000e-01	1	9.900000e-01	1
DNAH7	56171	broad.mit.edu	37	2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	p.R850C(1)		205					TGCCTGGGGCGCAAACCAGGA	0.453000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000312428.6	0	1	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952760	0.53293	.	.	ENSG00000118997	ENST00000312428	T	0.63417	-0.04	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.125121	0.53938	D	0.000044	D	0.84392	0.5462	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.87323	0.2319	10	0.59425	D	0.04	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	850	Q8WXX0	DYH7_HUMAN	C	850	ENSP00000311273:R850C	ENSP00000311273:R850C	R	-	1	0	DNAH7	196533572	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.626000	0.61269	2.708000	0.92522	0.650000	0.86243	CGC		TCGA-FB-AAPZ-01A-11D-A40W-08	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	0	0	6	741	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	9.634199e-01	5	731	0	61	2								-1.779367	0	1	120856	4	40	1	2	4	6	2.804002	1	0.680000	3.130000	0.833749	5.000000e-02	0	1.000000	0.050000	0.251326	5.000000e-02	0	2.000000e-02	1
EHBP1	23301	broad.mit.edu	37	2	63223823	63223823	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:63223823G>A	ENST00000263991.5	+	21	3720	c.3238G>A	c.(3238-3240)Gca>Aca	p.A1080T	EHBP1_ENST00000354487.3_Missense_Mutation_p.A1045T|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Missense_Mutation_p.A1009T|EHBP1_ENST00000405289.1_Missense_Mutation_p.A1045T|EHBP1_ENST00000405015.3_Missense_Mutation_p.A1009T	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1			47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		AGAATTGGCAGCACTAGAGAA	0.443000																								0							SO:0001583	missense			ENST00000263991.5	0	1	hg19	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657246	0.88154	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289;ENST00000545092	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.19	5.19	0.71726	Domain of unknown function DUF3585 (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.57435	-0.7812	10	0.32370	T	0.25	.	18.7221	0.91698	0.0:0.0:1.0:0.0	.	1045;1009;1080	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	T	1009;1009;1080;1045;1045;51	ENSP00000384143:A1009T;ENSP00000403783:A1009T;ENSP00000263991:A1080T;ENSP00000346482:A1045T;ENSP00000385524:A1045T	ENSP00000263991:A1080T	A	+	1	0	EHBP1	63077327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.438000	0.82558	0.650000	0.86243	GCA		TCGA-FB-AAPZ-01A-11D-A40W-08	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	0	0	0	5	427	0	69	0	8.579740e-02	0	34	0	69	2		0	0	0	0	0	2	1	9.363465e-01	5	423	0	69	2								-2.908839	1	1	0	0		1	2	2	4	2.335306	1	0.680000	3.130000	0.802323	6.000000e-02	0	1.000000	0.060000	0.132475	6.000000e-02	0	2.000000e-02	1.100000e-01
TCF7L1	83439	broad.mit.edu	37	2	85532397	85532397	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:85532397G>A	ENST00000282111.3	+	8	1135	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)			18					GTCTCCAGTCGGTTCTCTCCT	0.627000																								0							SO:0001583	missense			ENST00000282111.3	1	1	hg19	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381282	0.82792	.	.	ENSG00000152284	ENST00000282111	D	0.98617	-5.03	5.18	5.18	0.71444	.	0.057692	0.64402	D	0.000001	D	0.99001	0.9659	M	0.77820	2.39	0.45183	D	0.99819	D	0.76494	0.999	D	0.72625	0.978	D	0.99785	1.1029	10	0.72032	D	0.01	.	16.1893	0.81975	0.0:0.0:1.0:0.0	.	287	Q9HCS4	TF7L1_HUMAN	Q	287	ENSP00000282111:R287Q	ENSP00000282111:R287Q	R	+	2	0	TCF7L1	85385908	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	9.782000	0.99034	2.401000	0.81631	0.591000	0.81541	CGG		TCGA-FB-AAPZ-01A-11D-A40W-08	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	1	0	1	147	450	0	87	0	3.601788e-01	0	5	0	87	2		0	0	0	0	0	2	1	1	146	443	0	85	2								-5.416782	1	1	121412	3	38	1	2	2	4	2.308637	1	0.680000	3.130000	0.799800	9.900000e-01	9.900000e-01	1.000000	1.000000	0.999336	9.900000e-01	1	9.900000e-01	1
CD8B	926	broad.mit.edu	37	2	87085431	87085431	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:87085431C>T	ENST00000390655.6	-	2	210	c.152G>A	c.(151-153)cGc>cAc	p.R51H	CD8B_ENST00000349455.3_Missense_Mutation_p.R51H|CD8B_ENST00000393761.2_Missense_Mutation_p.R51H|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.R51H|CD8B_ENST00000331469.2_Missense_Mutation_p.R51H	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule			13					CCAGTAGATGCGCATGTTACT	0.552000																								0							SO:0001583	missense			ENST00000390655.6	1	1	hg19	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796172	0.50208	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	4.49	0.103	0.14526	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.342240	0.04418	N	0.367173	T	0.63283	0.2498	N	0.08118	0	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;1.0	D;D;D;P;D;D	0.68943	0.961;0.961;0.93;0.899;0.91;0.934	T	0.56860	-0.7909	10	0.35671	T	0.21	-3.9365	7.4646	0.27314	0.0:0.3982:0.5015:0.1003	.	51;51;51;51;51;51	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	H	51	ENSP00000377358:R51H;ENSP00000377356:R51H;ENSP00000340592:R51H;ENSP00000331172:R51H;ENSP00000375070:R51H	ENSP00000331172:R51H	R	-	2	0	CD8B	86938942	0.000000	0.05858	0.001000	0.08648	0.111000	0.19643	-0.174000	0.09839	0.009000	0.14813	-0.140000	0.14226	CGC		TCGA-FB-AAPZ-01A-11D-A40W-08	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	1	0	1	118	228	0	65	0	4.226639e-01	0	4	0	65	2		0	0	0	0	0	2	1	1	116	223	0	66	2								-20.000000	1	1	121412	3	37	1	2	2	4	2.308637	1	0.680000	3.130000	0.799800	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
TRAT1	50852	broad.mit.edu	37	3	108572493	108572493	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr3:108572493C>A	ENST00000295756.6	+	6	560	c.330C>A	c.(328-330)taC>taA	p.Y110*	TRAT1_ENST00000426646.1_Nonsense_Mutation_p.Y73*	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1			28					AGATGTGCTACGCCTCACTTG	0.413000																								0							SO:0001587	stop_gained			ENST00000295756.6	0	1	hg19	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740523	0.30865	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	.	.	.	5.63	-9.83	0.00482	.	0.110144	0.41001	D	0.000963	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2088	16.9584	0.86266	0.0:0.7349:0.0:0.2651	.	.	.	.	X	110;73	.	ENSP00000295756:Y110X	Y	+	3	2	TRAT1	110055183	0.373000	0.25073	0.002000	0.10522	0.054000	0.15201	-0.978000	0.03778	-2.084000	0.00866	-0.140000	0.14226	TAC		TCGA-FB-AAPZ-01A-11D-A40W-08	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	1	0	1	58	414	0	93	0	4.493298e-01	0	12	0	93	2		0	0	0	0	0	2	1	1	57	409	0	92	2								-19.997640	1	1	0	0		1	3	4	7	2.348910	1	0.680000	3.130000	0.803560	6.100000e-01	4.500000e-01	1.000000	0.580000	0.687122	6.100000e-01	0	5.200000e-01	1
RHOA	387	broad.mit.edu	37	3	49412957	49412957	+	Silent	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr3:49412957G>A	ENST00000418115.1	-	2	450	c.66C>T	c.(64-66)ctC>ctT	p.L22L	RHOA_ENST00000422781.1_Silent_p.L22L|RHOA_ENST00000454011.2_Silent_p.L22L	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A			12					TGAAGACTATGAGCAAGCATG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000418115.1	1	1	hg19	CCDS2795.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	1	0	1	142	290	0	120	1	1	150	606	0	120	2		0	0	0	0	0	2	1	1	142	288	0	117	2								-13.078020	1	1	0	0		1	0	3	3	1.696043	1	0.680000	3.130000	0.749765	9.900000e-01	9.900000e-01	1.000000	1.000000	0.999961	9.900000e-01	1	9.900000e-01	1
HS3ST1	9957	broad.mit.edu	37	4	11401393	11401393	+	Silent	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr4:11401393G>A	ENST00000002596.5	-	2	1411	c.237C>T	c.(235-237)gaC>gaT	p.D79D		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	p.D79D(1)		15					CGGCCGCCACGTCGGGGTGCA	0.662000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000002596.5	0	1	hg19	CCDS3408.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	0	0	0	8	322	0	74	1	3.408764e-01	4	41	0	74	2		0	0	0	0	0	2	1	9.884920e-01	8	314	0	73	2								-8.533830	1	1	121402	1	30	1	1	2	3	1.953323	1	0.680000	3.130000	0.761194	9.000000e-02	3.000000e-02	0.180000	0.090000	0.106745	9.000000e-02	0	6.000000e-02	1.400000e-01
PROL1	58503	broad.mit.edu	37	4	71275677	71275677	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr4:71275677G>A	ENST00000399575.2	+	3	806	c.632G>A	c.(631-633)cGt>cAt	p.R211H		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1			15		all_hematologic(202;0.196)			CTCGCCAACCGTCCTCACACA	0.448000																								0							SO:0001583	missense			ENST00000399575.2	1	1	hg19	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361243	0.41801	0.0	2.39E-4	ENSG00000171199	ENST00000399575	T	0.42131	0.98	3.08	1.33	0.21861	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.08055	0.003	T	0.15206	-1.0445	9	0.44086	T	0.13	.	3.3539	0.07162	0.0:0.5226:0.2206:0.2569	.	211	Q99935	PROL1_HUMAN	H	211	ENSP00000382485:R211H	ENSP00000382485:R211H	R	+	2	0	PROL1	71310266	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.417000	0.07088	0.045000	0.15804	-0.187000	0.12897	CGT		TCGA-FB-AAPZ-01A-11D-A40W-08	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	0	0	1	101	290	0	93	0	0	0	1	0	93	2		0	0	0	0	0	2	1	1	99	284	0	92	2								-3.222083	1	1	121002	17	45	1	1	2	3	1.953323	1	0.680000	3.130000	0.761194	9.900000e-01	8.400000e-01	1.000000	1.000000	0.975066	9.900000e-01	1	9.200000e-01	1
ADAMTS19	171019	broad.mit.edu	37	5	129039960	129039960	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:129039960G>A	ENST00000274487.4	+	21	3315	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19			91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		AAAGGCATACGTCATCGGACC	0.423000																								0							SO:0001583	missense			ENST00000274487.4	1	1	hg19	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401303	0.25291	.	.	ENSG00000145808	ENST00000274487	T	0.57907	0.37	4.45	4.45	0.53987	.	0.078589	0.51477	D	0.000088	T	0.49864	0.1582	M	0.63169	1.94	0.50813	D	0.99989	B	0.30211	0.273	B	0.23275	0.045	T	0.49428	-0.8941	9	.	.	.	.	18.3946	0.90494	0.0:0.0:1.0:0.0	.	1057	Q8TE59	ATS19_HUMAN	H	1057	ENSP00000274487:R1057H	.	R	+	2	0	ADAMTS19	129067859	0.988000	0.35896	0.419000	0.26584	0.023000	0.10783	3.651000	0.54431	2.758000	0.94735	0.655000	0.94253	CGT		TCGA-FB-AAPZ-01A-11D-A40W-08	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	1	0	0	46	688	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	1	46	682	0	128	2								-8.494014	1	1	121412	8	44	1	2	2	4	2.380632	1	0.680000	3.130000	0.806389	3.000000e-01	2.100000e-01	1.000000	0.310000	0.330177	3.000000e-01	0	2.500000e-01	3.600000e-01
KCTD16	57528	broad.mit.edu	37	5	143853641	143853641	+	Silent	SNP	T	T	C			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:143853641T>C	ENST00000507359.3	+	3	2342	c.1251T>C	c.(1249-1251)ccT>ccC	p.P417P	KCTD16_ENST00000512467.1_Silent_p.P417P	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16			21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		GAAAACATCCTTGGCAATCTG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000507359.3	1	1	hg19	CCDS34260.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	1	0	1	169	331	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	168	322	0	73	2								-20.000000	1	1	0	0		1	3	4	7	2.282443	1	0.680000	3.130000	0.797212	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
C5orf34	375444	broad.mit.edu	37	5	43508741	43508741	+	Nonsense_Mutation	SNP	G	G	A	rs143336043		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:43508741G>A	ENST00000306862.2	-	3	598	c.223C>T	c.(223-225)Cga>Tga	p.R75*	RP11-159F24.3_ENST00000505645.1_RNA|RP11-159F24.6_ENST00000512498.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	p.R75*(1)		21	Lung NSC(6;2.07e-05)				GAAGAGTTTCGAAAATCTAGG	0.289000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000306862.2	0	1	hg19	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	G	37	6.582089	0.97680	0.0	1.16E-4	ENSG00000172244	ENST00000306862	.	.	.	5.35	3.27	0.37495	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7736	13.9037	0.63821	0.0:0.0:0.7113:0.2887	.	.	.	.	X	75	.	ENSP00000303490:R75X	R	-	1	2	C5orf34	43544498	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.350000	0.34010	1.184000	0.42957	0.655000	0.94253	CGA		TCGA-FB-AAPZ-01A-11D-A40W-08	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	1	0	1	179	307	0	85	1	4.701862e-01	2	2	0	85	2		0	0	0	0	0	2	1	1	178	306	0	81	2								-20.000000	1	1	121408	24	47	1	2	2	4	2.392500	1	0.680000	3.130000	0.807969	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
MEF2C	4208	broad.mit.edu	37	5	88027589	88027589	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:88027589C>T	ENST00000437473.2	-	7	1184	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	MEF2C_ENST00000510942.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000504921.2_Missense_Mutation_p.R256Q|MEF2C_ENST00000340208.5_Missense_Mutation_p.R274Q|MEF2C_ENST00000508569.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000514028.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000539796.1_Missense_Mutation_p.R208Q|MEF2C_ENST00000424173.2_Missense_Mutation_p.R254Q|MEF2C_ENST00000514015.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000506554.1_Missense_Mutation_p.R256Q	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	p.R256L(2)|p.R254L(1)		40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)			AATAAGAACTCGGAGATCTGG	0.378000										HNSCC(66;0.2)														3	Substitution - Missense(3)						SO:0001583	missense			ENST00000437473.2	1	1	hg19	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	37	6.088843	0.97271	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.994;0.998;0.974;0.999	T	0.67465	-0.5664	10	0.87932	D	0	-4.0687	20.5666	0.99351	0.0:1.0:0.0:0.0	.	254;274;256;256	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	Q	274;254;256;256;256;256;256;256;256;208	ENSP00000340874:R274Q;ENSP00000389610:R254Q;ENSP00000421925:R256Q;ENSP00000426665:R256Q;ENSP00000396219:R256Q;ENSP00000422390:R256Q;ENSP00000425636:R256Q;ENSP00000423597:R256Q;ENSP00000424606:R256Q;ENSP00000441153:R208Q	ENSP00000340874:R274Q	R	-	2	0	MEF2C	88063345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	CGA		TCGA-FB-AAPZ-01A-11D-A40W-08	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	1	0	1	88	144	0	41	0	8.102472e-01	0	7	0	41	2		0	0	0	0	0	2	1	1	85	144	0	41	2								-12.800020	1	1	0	0		1	2	2	4	2.338893	1	0.680000	3.130000	0.802323	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase			15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)		TGGTTTCGCCGCAAATGGCAA	0.433000																								0							SO:0001583	missense			ENST00000344419.3	0	1	hg19	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		TCGA-FB-AAPZ-01A-11D-A40W-08	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	0	0	0	6	359	0	96	0	4.146428e-04	0	2	0	96	2		0	0	0	0	0	2	1	9.649964e-01	6	358	0	95	2								-1.992233	0	1	121412	3	38	1	0	2	2	1.519410	1	0.680000	3.130000	0.680000	4.000000e-02	1.000000e-02	0.100000	0.050000	0.056024	4.000000e-02	0	2.000000e-02	8.000000e-02
ENPP4	22875	broad.mit.edu	37	6	46108833	46108833	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:46108833A>C	ENST00000321037.4	+	3	1101	c.871A>C	c.(871-873)Atg>Ctg	p.M291L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)			18					TAGCCCTCATATGAATGTTTA	0.323000																								0							SO:0001583	missense			ENST00000321037.4	1	1	hg19	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	A	9.051	0.992094	0.18966	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.74002	-0.8	6.16	0.723	0.18231	Alkaline-phosphatase-like, core domain (1);	0.189676	0.64402	N	0.000004	T	0.28830	0.0715	N	0.16307	0.4	0.49798	D	0.999825	B	0.11235	0.004	B	0.17979	0.02	T	0.38542	-0.9656	10	0.02654	T	1	-10.9395	9.624	0.39739	0.5348:0.3528:0.0:0.1124	.	291	Q9Y6X5	ENPP4_HUMAN	L	291	ENSP00000318066:M291L	ENSP00000318066:M291L	M	+	1	0	ENPP4	46216792	1.000000	0.71417	0.996000	0.52242	0.785000	0.44390	2.205000	0.42770	-0.084000	0.12595	0.528000	0.53228	ATG		TCGA-FB-AAPZ-01A-11D-A40W-08	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2	1	0	1	137	303	0	93	0	8.995325e-01	0	11	0	93	2		0	0	0	0	0	2	1	1	134	300	0	92	2								-20.000000	1	1	0	0		1	2	3	5	2.245979	1	0.680000	3.130000	0.793655	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
SEPT7	989	broad.mit.edu	37	7	35923505	35923505	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:35923505G>A	ENST00000435235.1	+	8	1001	c.569G>A	c.(568-570)cGt>cAt	p.R190H	SEPT7_ENST00000494488.2_Missense_Mutation_p.R229H|SEPT7_ENST00000350320.6_Missense_Mutation_p.R242H|SEPT7_ENST00000399035.3_Missense_Mutation_p.R242H|SEPT7_ENST00000469679.2_Intron|SEPT7_ENST00000399034.2_Missense_Mutation_p.R244H|SEPT7_ENST00000432293.2_Intron			Q16181	SEPT7_HUMAN	septin 7			14					TTATAGGACCGTTTACCTCTT	0.358000																								0							SO:0001583	missense			ENST00000435235.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.05	2.716738	0.48622	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488	T;T;T;T;T	0.79749	-1.3;1.4;1.4;1.4;1.4	4.88	4.88	0.63580	.	0.243404	0.30890	U	0.008678	T	0.72447	0.3461	L	0.37800	1.135	0.80722	D	1	B;B;B	0.16166	0.01;0.016;0.016	B;B;B	0.19391	0.024;0.025;0.025	T	0.67329	-0.5698	10	0.08599	T	0.76	.	18.4417	0.90669	0.0:0.0:1.0:0.0	.	188;242;243	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	H	190;244;242;242;188;190;229	ENSP00000413507:R190H;ENSP00000381992:R244H;ENSP00000344868:R242H;ENSP00000381993:R242H;ENSP00000438395:R229H	ENSP00000344868:R242H	R	+	2	0	SEPT7	35890030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.596000	0.82721	2.422000	0.82143	0.558000	0.71614	CGT		TCGA-FB-AAPZ-01A-11D-A40W-08	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	1	0	0	13	281	0	41	1	9.395397e-01	2	104	0	41	2		0	0	0	0	0	2	1	9.995338e-01	13	278	0	40	2								-14.409580	1	1	0	0		1	3	3	6	2.684319	1	0.680000	3.130000	0.827660	2.700000e-01	1.300000e-01	1.000000	0.230000	0.425362	2.700000e-01	0	1.900000e-01	1
PKD1L1	168507	broad.mit.edu	37	7	47933504	47933504	+	Silent	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:47933504G>A	ENST00000289672.2	-	15	2474	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1		BBS9/PKD1L1(2)	142					CGTCAGGGTCGAAGGACTGGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000289672.2	1	1	hg19	CCDS34633.1																																																																																				TCGA-FB-AAPZ-01A-11D-A40W-08	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	0	57	91	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	1	56	89	0	22	2								-20.000000	1	1	121412	4	34	1	3	3	6	2.674979	1	0.680000	3.130000	0.827660	9.900000e-01	9.900000e-01	1.000000	1.000000	1.000000	9.900000e-01	1	9.900000e-01	1
SUMF2	25870	broad.mit.edu	37	7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:56142409C>T	ENST00000413756.1	+	5	538	c.515C>T	c.(514-516)gCc>gTc	p.A172V	SUMF2_ENST00000434526.2_Missense_Mutation_p.A191V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2			14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		TGGGAGTTTGCCGCCCGAGGG	0.567000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000413756.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.686691	0.96784	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28	5.53	5.53	0.82687	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.951	D	0.99226	1.0880	10	0.87932	D	0	-11.665	18.8414	0.92186	0.0:1.0:0.0:0.0	.	176;172;191	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	V	176;191;84;194;191;172;189	ENSP00000378824:A176V;ENSP00000400922:A191V;ENSP00000275607:A84V;ENSP00000414434:A194V;ENSP00000341938:A191V;ENSP00000406445:A172V;ENSP00000410796:A189V	ENSP00000275607:A84V	A	+	2	0	SUMF2	56109903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.777000	0.95525	0.591000	0.81541	GCC		TCGA-FB-AAPZ-01A-11D-A40W-08	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	0	0	0	6	694	0	85	0	4.302332e-01	0	152	0	85	2		0	0	0	0	0	2		0	0	0	0	0	2								-1.901312	0	1	0	0		1	3	3	6	2.674979	1	0.680000	3.130000	0.827660	5.000000e-02	0	1.000000	0.050000	0.266377	5.000000e-02	0	2.000000e-02	1
ADAM28	10863	broad.mit.edu	37	8	24193065	24193065	+	Missense_Mutation	SNP	A	A	G	rs7001647	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr8:24193065A>G	ENST00000265769.4	+	14	1588	c.1478A>G	c.(1477-1479)aAt>aGt	p.N493S	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.N240S|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.N493S|ADAM28_ENST00000540823.1_Missense_Mutation_p.N260S	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28			42		Prostate(55;0.0959)			TTCCAAGTCAATGGCTTCCCT	0.532000													NSCLC(193;488 2149 22258 34798 40734)											0							SO:0001583	missense			ENST00000265769.4	1	0	hg19	CCDS34865.1	31	0.014194139194139194	31	0.06300813008130081	0	0.0	0	0.0	0	0.0	A	16.74	3.208031	0.58343	0.041307	1.16E-4	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.69	5.69	0.88448	ADAM, cysteine-rich (2);Blood coagulation inhibitor, Disintegrin (1);	.	.	.	.	T	0.13713	0.0332	M	0.90650	3.135	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.51317	-0.8721	9	0.87932	D	0	.	13.8927	0.63750	1.0:0.0:0.0:0.0	rs7001647;rs52800840;rs7001647	260;493;493;493	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2	.;.;ADA28_HUMAN;.	S	493;240;260;493	ENSP00000265769:N493S;ENSP00000380770:N240S;ENSP00000443743:N260S;ENSP00000393699:N493S	ENSP00000265769:N493S	N	+	2	0	ADAM28	24249010	1.000000	0.71417	0.998000	0.56505	0.207000	0.24258	7.932000	0.87634	2.156000	0.67533	0.528000	0.53228	AAT		TCGA-FB-AAPZ-01A-11D-A40W-08	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	1	0	1	15	64	0	29	0	9.526916e-01	0	25	0	29	2		0	0	0	0	0	2	1	9.999274e-01	15	64	0	29	2								-2.298601	0	1	121406	533	58	1	0	2	2	1.484975	1	0.680000	3.130000	0.680000	5.600000e-01	3.400000e-01	0.830000	0.560000	0.577463	5.600000e-01	0	4.400000e-01	7.000000e-01
ZIC3	7547	broad.mit.edu	37	X	136651124	136651124	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chrX:136651124G>A	ENST00000287538.5	+	2	1674	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Missense_Mutation_p.R375H	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3			37	Acute lymphoblastic leukemia(192;0.000127)				AGCAGCGACCGTAAGAAGCAC	0.502000																								0							SO:0001583	missense			ENST00000287538.5	0	1	hg19	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308427	0.95629	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.07567	3.18;3.18	5.74	5.74	0.90152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00316	-1.1823	10	0.87932	D	0	.	17.7298	0.88374	0.0:0.0:1.0:0.0	.	375	O60481	ZIC3_HUMAN	H	375	ENSP00000287538:R375H;ENSP00000359638:R375H	ENSP00000287538:R375H	R	+	2	0	ZIC3	136478790	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.796000	0.99103	2.405000	0.81733	0.600000	0.82982	CGT		TCGA-FB-AAPZ-01A-11D-A40W-08	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1	0	0	0	6	839	0	142		0	0	0	0	142	2		0	0	0	0	0	2	1	9.645181e-01	5	836	0	140	2								-2.331330	0	1	0	0		1	0	1	1			0.680000	3.130000	0.680000	0	0	0.020000	0.010000	0.011765	0	0	0	2.000000e-02
CYBB	1536	broad.mit.edu	37	X	37653065	37653065	+	Splice_Site	SNP	T	T	C			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chrX:37653065T>C	ENST00000378588.4	+	5	550		c.e5+2		CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Splice_Site	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide			32				Dextromethorphan(DB00514)	AGAATAAAGGTAAGCCTCTCA	0.373000																								0		GRCh37	CS961541	CYBB	S		SO:0001630	splice_region_variant			ENST00000378588.4	1	1	hg19	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357925	0.61403	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9689	0.71217	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYBB	37538005	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	4.466000	0.60148	1.917000	0.55516	0.483000	0.47432	.		TCGA-FB-AAPZ-01A-11D-A40W-08	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1	1	0	1	26	169	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	9.999999e-01	26	166	0	42	2								-20.000000	1	1	0	0		1	0	1	1			0.680000	3.130000	0.680000	1.900000e-01	1.300000e-01	0.270000	0.200000	0.201063	1.900000e-01	0	1.600000e-01	2.400000e-01
