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
GPRC5A	9052	broad.mit.edu	37	12	13061419	13061420	+	Frame_Shift_Ins	INS	-	-	TGGC			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			-	TGGC	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:13061419_13061420insTGGC	ENST00000014914.5	+	2	1126_1127	c.236_237insTGGC	c.(235-240)tttggcfs	p.-80fs	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A			18		Prostate(47;0.141)		Tretinoin(DB00755)	TTGGGCATCTTTGGCCTCACCT	0.559000																								0							SO:0001589	frameshift_variant			ENST00000014914.5	0	1	hg19	CCDS8657.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1	1	0	0	48	1013	0	184	0	9.999669e-01	0	311	0	184	2	0	0	0	0	0	0		1	1.000000	60	987	0	180	2	0	0	0	0	0	0		-5.748933	1	1	0	0		1	0	3	3	1.930904	1	0.210000	3.310000	0.271218	0.480000	0.350000	1.000000	0.470000	0.554319	0.480000	0	0.400000	0.640000
ACSS3	79611	broad.mit.edu	37	12	81624902	81624902	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:81624902delC	ENST00000548058.1	+	12	2491	c.1581delC	c.(1579-1581)tacfs	p.Y527fs	ACSS3_ENST00000548324.1_Frame_Shift_Del_p.Y209fs|ACSS3_ENST00000261206.3_Frame_Shift_Del_p.Y526fs			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3			51					AGCATTTATACTTTGAAAAAT	0.308000																								0							SO:0001589	frameshift_variant			ENST00000548058.1	0	1	hg19	CCDS9022.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	1	0	0	20	195	0	40	0	8.648634e-01	0	37	0	40	2	0	0	0	0	0	0		1	0.999996	20	191	0	40	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	3	3	1.930904	1	0.210000	3.310000	0.271218	0.990000	0.620000	1.000000	1.000000	0.924959	0.990000	1	0.790000	1.000000
PNLIP	5406	broad.mit.edu	37	10	118315573	118315573	+	Silent	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:118315573C>T	ENST00000369221.2	+	9	901	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase			43				Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	CTGATAGCATCGTCAACCCTG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000369221.2	1	1	hg19	CCDS7594.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	1	0	1	75	633	0	121	0	2.086118e-01	0	8	0	121	2		0	0	0	0	0	2	1	1.000000	75	627	0	120	2		0	0	0	0	121	2	-19.999430	1	1	0	0		1	1	2	3	1.779255	0	0.210000	3.310000	0.217396	0.990000	0.810000	1.000000	1.000000	0.969318	0.990000	1	0.910000	1.000000
POLR3A	11128	broad.mit.edu	37	10	79761987	79761987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:79761987C>A	ENST00000372371.3	-	17	2464	c.2327G>T	c.(2326-2328)aGc>aTc	p.S776I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa			59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		GGTGAGGGGGCTGTTGCTCTT	0.587000																								0							SO:0001583	missense			ENST00000372371.3	0	1	hg19	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579888	0.96565	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.70631	-0.5	5.49	5.49	0.81192	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	D	0.85969	0.5821	M	0.89658	3.05	0.80722	D	1	D	0.56287	0.975	P	0.59056	0.851	D	0.87645	0.2524	9	.	.	.	-31.3285	19.7347	0.96198	0.0:1.0:0.0:0.0	.	776	O14802	RPC1_HUMAN	I	776	ENSP00000361446:S776I	.	S	-	2	0	POLR3A	79431993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.206000	0.77891	2.746000	0.94184	0.655000	0.94253	AGC		TCGA-IB-7893-01A-11D-2201-08	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	0	0	0	3	36	0	9	0	6.913960e-01	0	28	0	9	2		0	0	0	0	0	2	1	0.795552	2	35	0	9	2		0	0	0	0	9	2	-7.853695	1	0	0	0		1	1	2	3	1.779255	0	0.210000	3.310000	0.217396	0.830000	0.240000	1.000000	1.000000	0.770678	0.830000	0	0.470000	1.000000
CNTN5	53942	broad.mit.edu	37	11	100211266	100211266	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:100211266C>A	ENST00000524871.1	+	22	3092	c.2802C>A	c.(2800-2802)ttC>ttA	p.F934L	CNTN5_ENST00000528682.1_Missense_Mutation_p.F934L|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.F860L|CNTN5_ENST00000279463.3_Missense_Mutation_p.F934L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	p.F934F(1)		81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)			ATGAGTCTTTCGTCATCCTAA	0.423000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000524871.1	1	1	hg19	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	4.092	0.014996	0.07959	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.18	-5.25	0.02781	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.412070	0.29053	N	0.013284	T	0.19886	0.0478	N	0.01576	-0.805	0.09310	N	0.999997	B;B	0.21688	0.019;0.059	B;B	0.23716	0.01;0.048	T	0.23797	-1.0178	9	.	.	.	.	14.7843	0.69790	0.0:0.4529:0.0:0.5471	.	860;934	O94779-2;O94779	.;CNTN5_HUMAN	L	934;934;860;934	ENSP00000436185:F934L;ENSP00000435637:F934L;ENSP00000393229:F860L;ENSP00000279463:F934L	.	F	+	3	2	CNTN5	99716476	0.000000	0.05858	0.031000	0.17742	0.006000	0.05464	-1.952000	0.01528	-0.884000	0.03976	-0.216000	0.12614	TTC		TCGA-IB-7893-01A-11D-2201-08	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	1	0	1	33	113	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	1.000000	31	112	0	15	2		0	0	0	0	15	2	-19.999680	1	1	0	0		1	2	2	4	2.136612	1	0.210000	3.310000	0.347107	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
DYNC2H1	79659	broad.mit.edu	37	11	103175414	103175414	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:103175414C>A	ENST00000375735.2	+	77	11491	c.11347C>A	c.(11347-11349)Cat>Aat	p.H3783N	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H3790N	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1			33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)			GAAGAACTTACATCTTGTGGT	0.398000																								0							SO:0001583	missense			ENST00000375735.2	1	1	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549973	0.86127	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.34275	1.37;1.37	5.37	5.37	0.77165	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.92738	3.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.982;0.987	T	0.77544	-0.2548	10	0.87932	D	0	.	17.6563	0.88179	0.0:1.0:0.0:0.0	.	3783;3790	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	N	3783;3790;29	ENSP00000364887:H3783N;ENSP00000381167:H3790N	ENSP00000364887:H3783N	H	+	1	0	DYNC2H1	102680624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.557000	0.82243	2.687000	0.91594	0.655000	0.94253	CAT		TCGA-IB-7893-01A-11D-2201-08	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1	18	382	0	47	1	6.732132e-01	12	38	0	47	2		0	0	0	0	0	2	1	0.999982	19	378	0	47	2		0	0	0	0	47	2	-18.580900	1	1	0	0		1	2	2	4	2.136612	1	0.210000	3.310000	0.347107	0.520000	0.320000	0.780000	0.520000	0.542072	0.520000	0	0.410000	0.660000
AMPD3	272	broad.mit.edu	37	11	10518392	10518392	+	Silent	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:10518392C>T	ENST00000396554.3	+	10	1832	c.1491C>T	c.(1489-1491)aaC>aaT	p.N497N	AMPD3_ENST00000444303.2_Silent_p.N329N	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3			25					TGCTGCCAAACTTTGGGAAGA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000396554.3	1	1	hg19	CCDS7802.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	1	0	0	41	512	0	105	1	6.998343e-01	3	29	0	105	2		0	0	0	0	0	2	1	1.000000	41	500	0	104	2		0	0	0	0	105	2	-20.000000	1	1	0	0		1	2	2	4	2.130237	1	0.210000	3.310000	0.347107	0.850000	0.620000	1.000000	1.000000	0.857157	0.850000	1	0.730000	0.990000
AGBL2	79841	broad.mit.edu	37	11	47684620	47684620	+	Silent	SNP	T	T	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:47684620T>A	ENST00000525123.1	-	18	2778	c.2493A>T	c.(2491-2493)tcA>tcT	p.S831S	AGBL2_ENST00000298861.4_Silent_p.S831S|AGBL2_ENST00000357610.3_Silent_p.S833S	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2			34					GGGTGGCCATTGATGGGTCCA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000525123.1	1	1	hg19	CCDS7944.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	1	0	0	120	1228	0	160	0	8.069948e-03	0	2	0	160	2		0	0	0	0	0	2	1	1.000000	117	1193	0	159	2		0	0	0	0	160	2	-20.000000	1	1	0	0		1	2	2	4	2.130237	1	0.210000	3.310000	0.347107	0.990000	0.850000	1.000000	1.000000	0.977639	0.990000	1	0.930000	1.000000
OR4C6	219432	broad.mit.edu	37	11	55433006	55433006	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:55433006G>A	ENST00000314259.3	+	1	393	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	p.V122L(1)		71					TGACCGCTACGTGGCCATCTG	0.547000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000314259.3	1	1	hg19	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830823	0.32329	2.27E-4	0.0	ENSG00000181903	ENST00000314259	T	0.20463	2.07	3.77	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.222920	0.22609	N	0.057844	T	0.19725	0.0474	M	0.69523	2.12	0.21802	N	0.999532	P	0.52170	0.951	B	0.40038	0.317	T	0.27123	-1.0083	10	0.62326	D	0.03	.	4.2775	0.10816	0.219:0.1919:0.5891:0.0	.	122	Q8NH72	OR4C6_HUMAN	M	122	ENSP00000324769:V122M	ENSP00000324769:V122M	V	+	1	0	OR4C6	55189582	0.009000	0.17119	0.983000	0.44433	0.942000	0.58702	0.122000	0.15687	0.604000	0.29930	0.536000	0.68110	GTG		TCGA-IB-7893-01A-11D-2201-08	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	1	0	1	111	444	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1.000000	109	431	0	99	2		0	0	0	0	101	2	-20.000000	1	1	121406	4	39	1	2	2	4	2.130237	1	0.210000	3.310000	0.347107	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
RAB6A	5870	broad.mit.edu	37	11	73471653	73471653	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:73471653G>T	ENST00000336083.3	-	1	483	c.28C>A	c.(28-30)Ccg>Acg	p.P10T	RAB6A_ENST00000541588.1_Missense_Mutation_p.P10T|RAB6A_ENST00000536566.1_5'Flank|RP11-707G14.1_ENST00000540547.1_RNA|RAB6A_ENST00000310653.6_Missense_Mutation_p.P10T	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family			4					TTCCTCAGCGGATTCCCGAAG	0.667000																								0							SO:0001583	missense			ENST00000336083.3	0	1	hg19	CCDS8224.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084059	0.76642	.	.	ENSG00000175582	ENST00000310653;ENST00000336083;ENST00000393571;ENST00000541588;ENST00000540771;ENST00000539750;ENST00000535748;ENST00000542366	T;T;T	0.64803	-0.12;-0.12;-0.11	4.89	3.98	0.46160	.	0.057059	0.64402	D	0.000001	T	0.65176	0.2666	L	0.53561	1.675	0.80722	D	1	B;D;B;B	0.53312	0.057;0.959;0.136;0.041	B;P;B;B	0.51615	0.05;0.675;0.059;0.051	T	0.68010	-0.5522	10	0.66056	D	0.02	.	10.9382	0.47257	0.0903:0.0:0.9097:0.0	.	10;10;10;10	Q1W5D8;F5H3K7;P20340;P20340-2	.;.;RAB6A_HUMAN;.	T	10	ENSP00000311449:P10T;ENSP00000336850:P10T;ENSP00000445350:P10T	ENSP00000311449:P10T	P	-	1	0	RAB6A	73149301	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.901000	0.75693	1.289000	0.44618	0.650000	0.86243	CCG		TCGA-IB-7893-01A-11D-2201-08	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259241.2	0	0	0	4	104	0	20	0	9.958214e-01	0	331	0	20	2		0	0	0	0	0	2	1	0.875271	5	96	0	20	2		0	0	0	0	20	2	-7.158389	1	1	0	0		1	2	2	4	2.136612	1	0.210000	3.310000	0.347107	0.470000	0.160000	0.990000	1.000000	0.510379	0.470000	0	0.290000	0.720000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	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	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						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	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	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-IB-7893-01A-11D-2201-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	24	107	0	18	1	9.954361e-01	18	24	0	18	2	1	1	51	240	0	314	2	1	1.000000	24	102	0	18	2	1	1	2010	6004	0	18	2	-15.978220	1	1	121404	2	44	1	0	3	3	1.930904	1	0.210000	3.310000	0.271218	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	0.990000	1.000000
GAS6	2621	broad.mit.edu	37	13	114535736	114535736	+	Missense_Mutation	SNP	C	C	T	rs141710031	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:114535736C>T	ENST00000357389.3	-	9	1105	c.953G>A	c.(952-954)cGt>cAt	p.R318H	GAS6_ENST00000355761.4_Intron|GAS6_ENST00000450766.1_Intron|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Intron|GAS6_ENST00000418959.3_5'UTR			Q14393	GAS6_HUMAN	growth arrest-specific 6			5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)			CTGCCACGGACGGGGGCCACG	0.692000																								0							SO:0001583	missense			ENST00000357389.3	1	0	hg19		16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	c	0.020	-1.436583	0.01108	0.017524	1.17E-4	ENSG00000183087	ENST00000357389	D	0.90620	-2.7	1.72	-3.43	0.04810	.	.	.	.	.	T	0.64929	0.2643	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.63198	-0.6691	6	0.39692	T	0.17	.	0.1497	0.00092	0.3614:0.16:0.1761:0.3025	.	.	.	.	H	318	ENSP00000349962:R318H	ENSP00000349962:R318H	R	-	2	0	GAS6	113578207	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	-2.506000	0.00507	-2.626000	0.00155	CGT		TCGA-IB-7893-01A-11D-2201-08	GAS6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	79	298	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1.000000	78	279	0	61	2		0	0	0	0	65	2	-2.647298	1	1	120582	216	55	1	0	3	3	1.939427	1	0.210000	3.310000	0.283707	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
JAG2	3714	broad.mit.edu	37	14	105609113	105609113	+	Silent	SNP	C	C	A	rs3122382		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:105609113C>A	ENST00000331782.3	-	26	4039	c.3636G>T	c.(3634-3636)ccG>ccT	p.P1212P	JAG2_ENST00000347004.2_Silent_p.P1174P	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2			22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)		CCCAGTGGGCCGGCCTCCCCG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000331782.3	0	1	hg19	CCDS9998.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2	0	0	0	3	96	0	29	0	1.262102e-01	0	15	0	29	2		0	0	0	0	0	2	1	0.799303	3	92	0	29	2		0	0	0	0	29	2	-6.147521	1	1	0	0		1	1	2	3	1.937806	0	0.210000	3.310000	0.280281	0.380000	0.100000	1.000000	0.320000	0.435622	0.380000	0	0.210000	0.650000
NUDT14	256281	broad.mit.edu	37	14	105639421	105639421	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:105639421G>A	ENST00000392568.2	-	5	699	c.606C>T	c.(604-606)ctC>ctT	p.L202L	NUDT14_ENST00000550912.1_5'UTR|RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14			14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)		AGATGACGCCGAGGGTCTTGG	0.632000										HNSCC(42;0.11)														0							SO:0001819	synonymous_variant			ENST00000392568.2	1	1	hg19	CCDS10000.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	0	0	1	33	264	0	65	1	9.918784e-01	12	51	0	65	2		0	0	0	0	0	2	1	1.000000	31	258	0	65	2		0	0	0	0	65	2	-3.318806	1	1	0	0		1	1	2	3	1.937806	0	0.210000	3.310000	0.280281	0.990000	0.830000	1.000000	1.000000	0.985343	0.990000	1	0.990000	1.000000
TMX1	81542	broad.mit.edu	37	14	51716045	51716045	+	Splice_Site	SNP	A	A	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:51716045A>T	ENST00000457354.2	+	5	570	c.445A>T	c.(445-447)Atg>Ttg	p.M149L		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1			5					TATTTTTAGGATGAGTAGTAT	0.284000																								0							SO:0001630	splice_region_variant			ENST00000457354.2	1	0	hg19	CCDS41953.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858882	0.71834	.	.	ENSG00000139921	ENST00000457354	T	0.63913	-0.07	5.75	5.75	0.90469	Thioredoxin-like fold (1);	0.070753	0.85682	D	0.000000	T	0.65312	0.2679	M	0.66506	2.035	0.58432	D	0.999995	P;P	0.45283	0.537;0.855	B;P	0.48334	0.391;0.574	T	0.64015	-0.6506	10	0.28530	T	0.3	-22.9158	10.7708	0.46321	0.8579:0.0:0.0:0.1421	.	65;149	B4DZX7;Q9H3N1	.;TMX1_HUMAN	L	149	ENSP00000393316:M149L	ENSP00000393316:M149L	M	+	1	0	TMX1	50785795	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.210000	0.65214	2.185000	0.69588	0.533000	0.62120	ATG		TCGA-IB-7893-01A-11D-2201-08	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411206.1	1	0	1	37	315	0	38	1	9.999993e-01	19	168	0	38	2		0	0	0	0	0	2	1	1.000000	35	306	0	38	2		0	0	0	0	38	2	-13.679730	1	1	0	0		1	1	2	3	1.948275	0	0.210000	3.310000	0.285068	0.990000	0.800000	1.000000	1.000000	0.977528	0.990000	1	0.940000	1.000000
PTX4	390667	broad.mit.edu	37	16	1536305	1536305	+	Missense_Mutation	SNP	C	C	T	rs139020235	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:1536305C>T	ENST00000447419.2	-	3	1097	c.1072G>A	c.(1072-1074)Ggc>Agc	p.G358S	PTX4_ENST00000293922.1_Missense_Mutation_p.G353S|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long			17					TGCCACTGGCCGTCCAGCAGC	0.672000																								0							SO:0001583	missense			ENST00000447419.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.16	1.555929	0.27827	0.00523	0.0	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.70399	-0.48;-0.48	5.58	-1.27	0.09347	.	0.344788	0.28877	N	0.013853	T	0.64011	0.2560	L	0.55103	1.725	0.36413	D	0.863864	P	0.49783	0.928	P	0.56434	0.798	T	0.70011	-0.4989	10	0.72032	D	0.01	.	6.632	0.22861	0.0:0.5363:0.1133:0.3505	.	353	Q96A99-2	.	S	358;353	ENSP00000445277:G358S;ENSP00000293922:G353S	ENSP00000293922:G353S	G	-	1	0	PTX4	1476306	0.000000	0.05858	0.060000	0.19600	0.388000	0.30384	0.231000	0.17872	-0.153000	0.11137	-0.878000	0.02970	GGC		TCGA-IB-7893-01A-11D-2201-08	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	0	0	0	6	196	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	0.962291	5	191	0	63	2		0	0	0	0	63	2	-7.852806	1	1	121394	54	47	1	1	2	3	1.935424	0	0.210000	3.310000	0.278209	0.340000	0.130000	1.000000	0.310000	0.405432	0.340000	0	0.220000	0.540000
SMG1	23049	broad.mit.edu	37	16	18882786	18882786	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:18882786C>A	ENST00000446231.2	-	16	2614	c.2202G>T	c.(2200-2202)tgG>tgT	p.W734C	SMG1_ENST00000389467.3_Missense_Mutation_p.W734C|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase			92					CTTCCAAAGCCCAAGTCATTA	0.338000																								0							SO:0001583	missense			ENST00000446231.2	0	1	hg19	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287871	0.80803	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.17691	2.26;2.26	5.21	5.21	0.72293	Armadillo-type fold (1);	0.091723	0.47455	U	0.000236	T	0.31482	0.0798	M	0.65975	2.015	0.80722	D	1	D	0.63046	0.992	P	0.49561	0.615	T	0.08911	-1.0699	10	0.87932	D	0	.	19.116	0.93340	0.0:1.0:0.0:0.0	.	734	Q96Q15	SMG1_HUMAN	C	734	ENSP00000402515:W734C;ENSP00000374118:W734C	ENSP00000374118:W734C	W	-	3	0	SMG1	18790287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.857000	0.69525	2.589000	0.87451	0.555000	0.69702	TGG		TCGA-IB-7893-01A-11D-2201-08	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	0	0	0	7	139	0	25	0	3.681418e-01	0	24	0	25	2		0	0	0	0	0	2	1	0.975467	4	131	0	26	2		0	0	0	0	25	2	-10.153060	1	0	0	0		1	1	2	3	1.935424	0	0.210000	3.310000	0.278209	0.540000	0.240000	1.000000	0.500000	0.587621	0.540000	0	0.370000	0.830000
UBN1	29855	broad.mit.edu	37	16	4920917	4920917	+	Silent	SNP	A	A	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:4920917A>G	ENST00000396658.4	+	10	2206	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000545171.1_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	p.K501K(1)		38					ATGAAGAAAAAGGGGGCAGGA	0.522000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000396658.4	0	1	hg19	CCDS10525.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	0	0	0	5	314	0	58	0	3.424384e-01	0	66	0	58	2		0	0	0	0	0	2	1	0.932083	5	303	0	56	2		0	0	0	0	58	2	-1.931542	0	1	0	0		1	1	2	3	1.935424	0	0.210000	3.310000	0.278209	0.180000	0.060000	1.000000	0.170000	0.258525	0.180000	0	0.110000	0.310000
SLC12A3	6559	broad.mit.edu	37	16	56924262	56924262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:56924262G>A	ENST00000563236.1	+	19	2387	c.2362G>A	c.(2362-2364)Gcg>Acg	p.A788T	SLC12A3_ENST00000262502.5_Missense_Mutation_p.A787T|SLC12A3_ENST00000438926.2_Missense_Mutation_p.A788T|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A787T			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3			50				Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GATGATGCAGGCGCACAGTGA	0.458000																								0							SO:0001583	missense			ENST00000563236.1	0	1	hg19	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387157	0.25031	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.63	3.62	0.41486	.	0.299899	0.36002	N	0.002841	T	0.43986	0.1272	L	0.38838	1.175	0.40083	D	0.976162	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.001;0.003	T	0.25363	-1.0134	9	0.27082	T	0.32	.	9.6378	0.39819	0.0777:0.143:0.7794:0.0	.	787;788;788	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	T	787;788	.	ENSP00000262502:A788T	A	+	1	0	SLC12A3	55481763	1.000000	0.71417	0.970000	0.41538	0.411000	0.31082	4.456000	0.60081	0.683000	0.31428	0.655000	0.94253	GCG		TCGA-IB-7893-01A-11D-2201-08	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1	0	0	0	6	361	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	0.962200	6	352	0	50	2		0	0	0	0	50	2	-6.276320	1	0	0	0		1	2	2	4	2.102362	1	0.210000	3.310000	0.341392	0.200000	0.070000	1.000000	0.190000	0.245367	0.200000	0	0.130000	0.310000
FUK	197258	broad.mit.edu	37	16	70500121	70500121	+	Silent	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:70500121C>A	ENST00000288078.6	+	5	604	c.372C>A	c.(370-372)gtC>gtA	p.V124V	FUK_ENST00000378912.2_Silent_p.V156V|FUK_ENST00000428974.2_Silent_p.V107V|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase			23		Ovarian(137;0.0694)			AAGCCTTGGTCTGCAACCTGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000288078.6	0	1	hg19	CCDS10891.2																																																																																				TCGA-IB-7893-01A-11D-2201-08	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	0	0	0	6	335	0	78	0	7.829084e-02	0	22	0	78	2		0	0	0	0	0	2	0	0.957872	1	319	0	73	2		0	0	0	0	78	2	-6.550677	1	0	0	0		1	2	2	4	2.102362	1	0.210000	3.310000	0.341392	0.220000	0.080000	1.000000	0.200000	0.260997	0.220000	0	0.140000	0.330000
KRT37	8688	broad.mit.edu	37	17	39579066	39579066	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:39579066C>A	ENST00000225550.3	-	3	695	c.696G>T	c.(694-696)aaG>aaT	p.K232N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37			25		Breast(137;0.000496)			GCTGCTCCTCCTTCAGGGACT	0.682000																								0							SO:0001583	missense			ENST00000225550.3	1	1	hg19	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	19.52	3.842774	0.71488	.	.	ENSG00000108417	ENST00000225550	D	0.89050	-2.46	4.86	3.89	0.44902	Filament (1);	0.000000	0.48767	D	0.000168	D	0.93229	0.7843	M	0.84773	2.715	0.36535	D	0.870956	D	0.65815	0.995	D	0.65443	0.935	D	0.93696	0.7011	10	0.48119	T	0.1	.	8.3474	0.32281	0.0:0.7613:0.1549:0.0839	.	232	O76014	KRT37_HUMAN	N	232	ENSP00000225550:K232N	ENSP00000225550:K232N	K	-	3	2	KRT37	36832592	0.750000	0.28316	1.000000	0.80357	0.981000	0.71138	0.281000	0.18810	1.058000	0.40530	-0.126000	0.14955	AAG		TCGA-IB-7893-01A-11D-2201-08	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	1	0	0	27	246	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1.000000	25	230	0	60	2		0	0	0	0	61	2	-20.000000	1	1	0	0		1	2	2	4	2.157474	1	0.210000	3.310000	0.347107	0.990000	0.780000	1.000000	1.000000	0.977208	0.990000	1	0.950000	1.000000
TP53	7157	broad.mit.edu	37	17	7577520	7577520	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:7577520A>C	ENST00000269305.4	-	7	950	c.761T>G	c.(760-762)aTc>aGc	p.I254S	TP53_ENST00000445888.2_Missense_Mutation_p.I254S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.I254S|TP53_ENST00000420246.2_Missense_Mutation_p.I254S|TP53_ENST00000359597.4_Missense_Mutation_p.I254S|TP53_ENST00000413465.2_Missense_Mutation_p.I254S	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.0?(8)|p.I254S(6)|p.L252_I254delLTI(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CAGTGTGATGATGGTGAGGAT	0.587000		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	35	Substitution - Missense(15)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(1)|Unknown(1)						SO:0001583	missense	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	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426944	0.62733	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99841	-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.84219	2.685	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.951;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.968;1.0;1.0;0.997	D	0.96936	0.9684	10	0.87932	D	0	-30.4212	12.3101	0.54924	1.0:0.0:0.0:0.0	.	254;254;254;254;254	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	254;254;254;254;254;254;243;122	ENSP00000410739:I254S;ENSP00000352610:I254S;ENSP00000269305:I254S;ENSP00000398846:I254S;ENSP00000391127:I254S;ENSP00000391478:I254S;ENSP00000425104:I122S	ENSP00000269305:I254S	I	-	2	0	TP53	7518245	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		TCGA-IB-7893-01A-11D-2201-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	70	233	0	62	1	9.999999e-01	26	57	0	62	2	1	1	106	450	0	601	2	1	1.000000	67	224	0	62	2		0	0	0	0	62	2	-20.000000	1	1	0	0		1	0	2	2	1.760364	1	0.210000	3.310000	0.210000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
COPE	11316	broad.mit.edu	37	19	19016396	19016396	+	Silent	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:19016396C>A	ENST00000262812.4	-	5	534	c.486G>T	c.(484-486)ctG>ctT	p.L162L	COPE_ENST00000598969.1_5'UTR|COPE_ENST00000351079.4_Silent_p.L111L|COPE_ENST00000600932.1_Silent_p.L185L|COPE_ENST00000349893.4_Silent_p.L162L	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon			11					GGGCGAGGTCCAGGCGGTCCA	0.682000																								0							SO:0001819	synonymous_variant			ENST00000262812.4	0	1	hg19	CCDS12387.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	0	0	0	4	106	0	8	0	9.928555e-01	0	291	0	8	2		0	0	0	0	0	2	1	0.875721	4	100	0	6	2		0	0	0	0	8	2	-7.003333	1	0	0	0		1	1	2	3	1.916326	0	0.210000	3.310000	0.280281	0.430000	0.140000	1.000000	0.380000	0.484811	0.430000	0	0.260000	0.710000
ZNF493	284443	broad.mit.edu	37	19	21606442	21606442	+	Silent	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:21606442C>T	ENST00000355504.4	+	2	863	c.597C>T	c.(595-597)ggC>ggT	p.G199G	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.G327G	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493			30					AAGAATGTGGCAAAGCCTTTA	0.333000																								0							SO:0001819	synonymous_variant			ENST00000355504.4	1	1	hg19	CCDS12412.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	1	0	0	25	320	0	62	0	5.780061e-03	0	2	0	62	2		0	0	0	0	0	2	1	1.000000	23	305	0	61	2		0	0	0	0	62	2	-20.000000	1	1	0	0		1	1	2	3	1.916326	0	0.210000	3.310000	0.280281	0.770000	0.510000	1.000000	1.000000	0.784464	0.770000	0	0.630000	0.960000
TRPM4	54795	broad.mit.edu	37	19	49713525	49713525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:49713525G>A	ENST00000252826.5	+	21	3317	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	TRPM4_ENST00000427978.2_Missense_Mutation_p.R919H|TRPM4_ENST00000355712.5_Missense_Mutation_p.R710H	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4			49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)			CAGCGTTACCGCCTCATCCGG	0.607000																								0							SO:0001583	missense			ENST00000252826.5	1	1	hg19	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803763	0.50315	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.43294	0.95;0.95;0.95	5.41	5.41	0.78517	.	0.224765	0.45361	D	0.000374	T	0.24812	0.0602	L	0.28458	0.855	0.27576	N	0.949747	P;P;P;P	0.43519	0.809;0.575;0.575;0.626	B;B;B;B	0.34722	0.092;0.188;0.123;0.092	T	0.16660	-1.0395	10	0.22109	T	0.4	-22.6616	8.6965	0.34298	0.1643:0.0:0.8357:0.0	.	710;890;919;1064	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	H	1064;919;710	ENSP00000252826:R1064H;ENSP00000407492:R919H;ENSP00000347944:R710H	ENSP00000252826:R1064H	R	+	2	0	TRPM4	54405337	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.257000	0.51500	2.704000	0.92352	0.491000	0.48974	CGC		TCGA-IB-7893-01A-11D-2201-08	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	1	0	1	140	439	0	73	1	9.999999e-01	37	40	0	73	2		0	0	0	0	0	2	1	1.000000	134	419	0	69	2		0	0	0	0	73	2	-5.419058	1	1	0	0		1	0	3	3	1.944366	1	0.210000	3.310000	0.285068	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ATAD3A	55210	broad.mit.edu	37	1	1447653	1447653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:1447653C>A	ENST00000378755.5	+	1	99	c.5C>A	c.(4-6)tCg>tAg	p.S2*	ATAD3A_ENST00000378756.3_Nonsense_Mutation_p.S2*|ATAD3A_ENST00000536055.1_5'Flank	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A			20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			GCGAGCATGTCGTGGCTCTTC	0.786000																								0							SO:0001587	stop_gained			ENST00000378755.5	0	1	hg19	CCDS31.1	.	.	.	.	.	.	.	.	.	.	c	37	6.121231	0.97300	.	.	ENSG00000197785	ENST00000378756;ENST00000378755	.	.	.	3.98	3.98	0.46160	.	0.133058	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6121	0.68522	0.0:1.0:0.0:0.0	.	.	.	.	X	2	.	ENSP00000368030:S2X	S	+	2	0	ATAD3A	1437516	1.000000	0.71417	0.992000	0.48379	0.499000	0.33736	3.954000	0.56708	1.749000	0.51849	0.400000	0.26472	TCG		TCGA-IB-7893-01A-11D-2201-08	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	0	0	0	3	56	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	0.770274	2	50	0	17	2		0	0	0	0	19	2	-7.552859	1	0	0	0		1	1	3	4	1.986815	1	0.210000	3.310000	0.302305	0.750000	0.200000	1.000000	1.000000	0.722879	0.750000	0	0.400000	1.000000
IVNS1ABP	10625	broad.mit.edu	37	1	185267230	185267230	+	Silent	SNP	C	C	T	rs74132213	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:185267230C>T	ENST00000367498.3	-	15	2488	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.T404T	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein			29					AGACTTCCACCGTATTCAGAA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000367498.3	1	0	hg19	CCDS1368.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	1	0	0	108	1258	0	205	1	1	20	452	0	205	2		0	0	0	0	0	2	1	1.000000	103	1228	0	205	2		0	0	0	0	205	2	-2.389375	0	1	121412	66	55	1	3	4	7	2.320980	1	0.210000	3.310000	0.403998	0.990000	0.830000	1.000000	1.000000	0.972723	0.990000	1	0.920000	1.000000
AJAP1	55966	broad.mit.edu	37	1	4772232	4772232	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:4772232C>A	ENST00000378191.4	+	2	683	c.302C>A	c.(301-303)gCc>gAc	p.A101D	AJAP1_ENST00000378190.3_Missense_Mutation_p.A101D	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1			24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)			GCCAGACGGGCCCACAGGCCC	0.736000																								0							SO:0001583	missense			ENST00000378191.4	0	1	hg19	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741503	0.49151	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.46819	0.86;0.86	5.2	4.29	0.51040	.	0.632555	0.15632	N	0.252341	T	0.40546	0.1121	N	0.24115	0.695	0.37947	D	0.932537	P	0.52061	0.95	P	0.49887	0.625	T	0.24119	-1.0169	10	0.30854	T	0.27	-24.4186	9.7068	0.40220	0.0:0.9031:0.0:0.0969	.	101	Q9UKB5	AJAP1_HUMAN	D	101	ENSP00000367432:A101D;ENSP00000367433:A101D	ENSP00000367432:A101D	A	+	2	0	AJAP1	4672092	0.077000	0.21312	0.909000	0.35828	0.089000	0.18198	1.256000	0.32921	1.162000	0.42619	0.563000	0.77884	GCC		TCGA-IB-7893-01A-11D-2201-08	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	0	0	0	4	33	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	0.873100	2	32	0	17	2		0	0	0	0	18	2	-11.334520	1	0	0	0		1	1	3	4	1.986815	1	0.210000	3.310000	0.302305	0.990000	0.470000	1.000000	1.000000	0.936761	0.990000	1	0.840000	1.000000
ZHX3	23051	broad.mit.edu	37	20	39830760	39830760	+	Missense_Mutation	SNP	G	G	A	rs148495510		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:39830760G>A	ENST00000309060.3	-	4	3212	c.2797C>T	c.(2797-2799)Cgt>Tgt	p.R933C	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.R933C|ZHX3_ENST00000432768.2_Missense_Mutation_p.R933C|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.R933C|ZHX3_ENST00000540170.1_Missense_Mutation_p.R933C|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3			31		Myeloproliferative disorder(115;0.00425)			TCAGGGACACGGGGCTCCCAC	0.597000																								0							SO:0001583	missense			ENST00000309060.3	1	1	hg19	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.58|16.58	3.162238|3.162238	0.57368|0.57368	0.0|0.0	1.16E-4|1.16E-4	ENSG00000174306|ENSG00000174306	ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000373262	T|T;T	0.09817|0.10477	2.94|2.87;2.87	6.02|6.02	-2.37|-2.37	0.06643|0.06643	.|.	.|1.070770	.|0.07293	.|N	.|0.872760	T|T	0.03695|0.03695	0.0105|0.0105	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;P	.|0.40000	.|0.698;0.698	.|B;B	.|0.27796	.|0.083;0.083	T|T	0.28996|0.28996	-1.0026|-1.0026	7|10	0.56958|0.59425	D|D	0.05|0.04	2.5672|2.5672	3.3151|3.3151	0.07030|0.07030	0.1075:0.3462:0.33:0.2163|0.1075:0.3462:0.33:0.2163	.|.	.|933;933	.|A8K8Q0;Q9H4I2	.|.;ZHX3_HUMAN	L|C	641|933;933;933;711	ENSP00000405421:P641L|ENSP00000362360:R933C;ENSP00000442290:R933C	ENSP00000405421:P641L|ENSP00000312222:R933C	P|R	-|-	2|1	0|0	ZHX3|ZHX3	39264174|39264174	.|.	.|.	0.004000|0.004000	0.12327|0.12327	0.942000|0.942000	0.58702|0.58702	.|.	.|.	-1.152000|-1.152000	0.02832|0.02832	-0.256000|-0.256000	0.11100|0.11100	CCG|CGT		TCGA-IB-7893-01A-11D-2201-08	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	1	0	0	47	402	0	118	0	8.206825e-01	0	29	0	118	2		0	0	0	0	0	2	1	1.000000	45	389	0	115	2		0	0	0	0	118	2	-2.415704	0	1	121412	3	37	1	1	2	3	1.936666	0	0.210000	3.310000	0.282340	0.990000	0.820000	1.000000	1.000000	0.981116	0.990000	1	0.950000	1.000000
ZMYND8	23613	broad.mit.edu	37	20	45839477	45839477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:45839477C>T	ENST00000311275.7	-	22	3743	c.3490G>A	c.(3490-3492)Gat>Aat	p.D1164N	ZMYND8_ENST00000352431.2_Missense_Mutation_p.D1138N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.D1083N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D1114N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.D1146N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D1212N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.D1219N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D1113N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.D1032N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.D1166N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.D1112N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.D1192N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D1164N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8			62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		GTGTTGTGATCGGAACGTGTC	0.547000																								0							SO:0001583	missense			ENST00000311275.7	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.40|12.40	1.926139|1.926139	0.34002|0.34002	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D|.	0.90444|.	-1.72;-1.6;-1.72;-1.61;-1.71;-1.7;-1.69;-2.67;-1.71;-1.84;-1.72|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.398191|.	0.22055|.	N|.	0.065245|.	T|T	0.35098|0.35098	0.0920|0.0920	N|N	0.22421|0.22421	0.69|0.69	0.20926|0.20926	N|N	0.999822|0.999822	B;P;B;P;B;B;B;B;B;B;B;P;P;B;P|.	0.42409|.	0.002;0.482;0.074;0.482;0.233;0.001;0.373;0.233;0.305;0.305;0.305;0.555;0.779;0.0;0.555|.	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.40066|.	0.0;0.152;0.014;0.152;0.038;0.002;0.052;0.072;0.045;0.045;0.032;0.033;0.318;0.001;0.033|.	T|T	0.20739|0.20739	-1.0266|-1.0266	10|5	0.72032|.	D|.	0.01|.	4.4285|4.4285	12.7927|12.7927	0.57543|0.57543	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	.|.	1032;1219;1114;1212;1146;1113;1138;1166;1164;1083;1141;1112;1085;1066;1164|.	B7ZM62;F5H0X3;Q2HXV3;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	N|Q	1113;1164;1032;1147;1213;1138;1164;1219;1192;1083;1166;1114;1112|1073	ENSP00000354166:D1113N;ENSP00000312237:D1164N;ENSP00000392964:D1032N;ENSP00000335537:D1138N;ENSP00000379577:D1164N;ENSP00000439800:D1219N;ENSP00000348246:D1192N;ENSP00000396725:D1083N;ENSP00000418210:D1166N;ENSP00000361093:D1114N;ENSP00000443086:D1112N|.	ENSP00000262975:D1147N|.	D|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45272884|45272884	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.036000|0.036000	0.12997|0.12997	3.683000|3.683000	0.54663|0.54663	2.399000|2.399000	0.81585|0.81585	0.462000|0.462000	0.41574|0.41574	GAT|CGA		TCGA-IB-7893-01A-11D-2201-08	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	1	0	1	55	468	0	87	1	9.864302e-01	9	50	0	87	2		0	0	0	0	0	2	1	1.000000	53	449	0	87	2		0	0	0	0	87	2	-3.075755	1	1	121412	3	36	1	1	2	3	1.936666	0	0.210000	3.310000	0.282340	0.990000	0.840000	1.000000	1.000000	0.984811	0.990000	1	0.970000	1.000000
CDC45	8318	broad.mit.edu	37	22	19492919	19492919	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:19492919C>T	ENST00000407835.1	+	11	995	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	CDC45_ENST00000437685.2_Missense_Mutation_p.R279C|CDC45_ENST00000263201.1_Missense_Mutation_p.R247C|CDC45_ENST00000404724.3_Missense_Mutation_p.R201C			O75419	CDC45_HUMAN	cell division cycle 45			19					TGTCCTGCAGCGCCACGTTTC	0.537000																								0							SO:0001583	missense			ENST00000407835.1	1	1	hg19	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502953	0.85176	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.987;0.964;0.991;0.987;0.991	T	0.55823	-0.8080	10	0.56958	D	0.05	-20.991	18.7616	0.91853	0.0:1.0:0.0:0.0	.	279;242;201;279;247	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	C	247;279;247;201	ENSP00000385240:R247C;ENSP00000405726:R279C;ENSP00000263201:R247C;ENSP00000384978:R201C	ENSP00000263201:R247C	R	+	1	0	CDC45	17872919	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	4.500000	0.60387	2.427000	0.82271	0.462000	0.41574	CGC		TCGA-IB-7893-01A-11D-2201-08	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	1	0	0	17	214	0	42	1	5.728908e-01	4	21	0	42	2		0	0	0	0	0	2	1	0.999957	16	205	0	42	2		0	0	0	0	42	2	-19.994420	1	1	121412	1	26	1	3	3	6	2.179621	1	0.210000	3.310000	0.364748	0.970000	0.550000	1.000000	1.000000	0.894481	0.970000	1	0.730000	1.000000
GGT1	2678	broad.mit.edu	37	22	25023539	25023539	+	Silent	SNP	C	C	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:25023539C>G	ENST00000400382.1	+	12	1916	c.1161C>G	c.(1159-1161)gtC>gtG	p.V387V	GGT1_ENST00000403838.1_Silent_p.V43V|GGT1_ENST00000400380.1_Silent_p.V387V|GGT1_ENST00000248923.4_Silent_p.V387V|GGT1_ENST00000401885.1_Silent_p.V43V|GGT1_ENST00000400383.1_Silent_p.V387V|GGT1_ENST00000406383.2_Silent_p.V387V|GGT1_ENST00000404532.1_Silent_p.V43V|GGT1_ENST00000404920.1_Silent_p.V43V|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404223.1_Silent_p.V43V			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1			40				Glutathione(DB00143)	TGTCTGTCGTCGCAGAGGACG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000400382.1	0	1	hg19	CCDS42992.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	0	0	0	4	152	0	23	0	3.420830e-01	0	39	0	23	2		0	0	0	0	0	2	1	0.740525	3	94	0	33	2		0	0	0	0	23	2	-6.114671	1	0	0	0		1	2	2	4	2.165217	1	0.210000	3.310000	0.347107	0.330000	0.110000	0.690000	0.280000	0.360181	0.330000	0	0.200000	0.510000
MYO18B	84700	broad.mit.edu	37	22	26164985	26164985	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:26164985G>T	ENST00000407587.2	+	4	1271	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	MYO18B_ENST00000335473.7_Missense_Mutation_p.D368Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.D368Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	p.D368N(1)		146					GTTGGGGGACGATCTGAGAAT	0.552000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000407587.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	g	11.39	1.625277	0.28889	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86769	-2.15;-2.15;-2.17	3.98	0.318	0.15867	.	1.705140	0.04097	N	0.312179	T	0.76948	0.4059	N	0.14661	0.345	0.09310	N	1	B;P;P	0.34909	0.344;0.475;0.475	B;B;B	0.35971	0.106;0.215;0.215	T	0.67225	-0.5724	10	0.33940	T	0.23	.	6.4609	0.21956	0.1491:0.3954:0.4555:0.0	.	368;368;368	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	Y	368	ENSP00000441229:D368Y;ENSP00000334563:D368Y;ENSP00000386096:D368Y	ENSP00000334563:D368Y	D	+	1	0	MYO18B	24494985	0.001000	0.12720	0.003000	0.11579	0.090000	0.18270	0.915000	0.28638	0.388000	0.25054	0.306000	0.20318	GAT		TCGA-IB-7893-01A-11D-2201-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	0	4	81	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	0.870649	4	74	0	11	2		0	0	0	0	13	2	-7.554825	1	1	0	0		1	2	2	4	2.165217	1	0.210000	3.310000	0.347107	0.600000	0.200000	1.000000	1.000000	0.626233	0.600000	0	0.360000	0.910000
CYB5R3	1727	broad.mit.edu	37	22	43032758	43032758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:43032758G>A	ENST00000352397.5	-	2	368	c.116C>T	c.(115-117)cCg>cTg	p.P39L	CYB5R3_ENST00000407623.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000361740.4_Missense_Mutation_p.P72L|CYB5R3_ENST00000402438.1_Missense_Mutation_p.P16L|CYB5R3_ENST00000396303.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000407332.1_Missense_Mutation_p.P16L	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3			6				Flavin adenine dinucleotide(DB03147)	CTTGATGTCCGGGCTCTCGAG	0.617000																								0							SO:0001583	missense			ENST00000352397.5	1	1	hg19	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365903	0.61513	0.0	1.16E-4	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	4.82	4.82	0.62117	Riboflavin synthase-like beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	M	0.63843	1.955	0.80722	D	1	D;P	0.89917	1.0;0.853	D;B	0.67103	0.949;0.235	D	0.92692	0.6167	10	0.87932	D	0	-34.6456	15.7659	0.78126	0.0:0.0:1.0:0.0	.	72;39	B7Z7L3;P00387	.;NB5R3_HUMAN	L	72;16;39;16;16;16;16	ENSP00000354468:P72L;ENSP00000379597:P16L;ENSP00000338461:P39L;ENSP00000384834:P16L;ENSP00000384457:P16L;ENSP00000385679:P16L;ENSP00000403439:P16L	ENSP00000338461:P39L	P	-	2	0	CYB5R3	41362702	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	8.716000	0.91420	2.387000	0.81309	0.313000	0.20887	CCG		TCGA-IB-7893-01A-11D-2201-08	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1	1	0	1	31	140	0	34	1	1	73	710	0	34	2		0	0	0	0	0	2	1	1.000000	30	139	0	32	2		0	0	0	0	34	2	-3.227480	1	1	121410	2	35	1	2	2	4	2.156051	1	0.210000	3.310000	0.347107	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	0.990000	1.000000
SULT1C2	6819	broad.mit.edu	37	2	108917367	108917367	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:108917367G>A	ENST00000437390.2	+	4	570	c.393G>A	c.(391-393)ccG>ccA	p.P131P	SULT1C2_ENST00000251481.6_Silent_p.P117P|SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000326853.5_Silent_p.P128P			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2			20					TGCTGCCACCGTCTTTCTGGG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000437390.2	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	6.403	0.442392	0.12164	.	.	ENSG00000198203	ENST00000438339;ENST00000409067	T	0.07021	3.23	4.31	-2.98	0.05513	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.35515	D	0.800953	.	.	.	.	.	.	T	0.44982	-0.9292	5	.	.	.	.	2.1177	0.03718	0.4494:0.1239:0.3063:0.1205	.	.	.	.	I	97;114	ENSP00000401996:V97I	.	V	+	1	0	SULT1C2	108283799	0.000000	0.05858	0.267000	0.24556	0.795000	0.44927	-2.523000	0.00949	-0.761000	0.04670	-0.312000	0.09012	GTC		TCGA-IB-7893-01A-11D-2201-08	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	0	0	1	119	517	0	85	1	9.299904e-02	2	1	0	85	2		0	0	0	0	0	2	1	1.000000	116	505	0	82	2		0	0	0	0	85	2	-20.000000	1	1	0	0		1	2	2	4	2.130471	1	0.210000	3.310000	0.347107	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
LRP1B	53353	broad.mit.edu	37	2	141771238	141771238	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:141771238T>A	ENST00000389484.3	-	14	3238	c.2267A>T	c.(2266-2268)tAt>tTt	p.Y756F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			ACCATTCATATAATCAGTCCA	0.388000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854521	0.71719	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000002	D	0.92750	0.7695	L	0.42008	1.315	0.53005	D	0.999968	D	0.69078	0.997	D	0.75020	0.985	D	0.91144	0.4948	10	0.25751	T	0.34	.	16.0884	0.81073	0.0:0.0:0.0:1.0	.	756	Q9NZR2	LRP1B_HUMAN	F	756;694	ENSP00000374135:Y756F	ENSP00000374135:Y756F	Y	-	2	0	LRP1B	141487708	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.900000	0.87376	2.203000	0.70933	0.533000	0.62120	TAT		TCGA-IB-7893-01A-11D-2201-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1	129	545	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1.000000	126	529	0	84	2		0	0	0	0	85	2	-20.000000	1	1	0	0		1	2	2	4	2.134613	1	0.210000	3.310000	0.347107	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
LRP2	4036	broad.mit.edu	37	2	170092528	170092528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:170092528C>T	ENST00000263816.3	-	29	5027	c.4742G>A	c.(4741-4743)cGa>cAa	p.R1581Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2			315				"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CATGCTGGCTCGCTCGATGCG	0.512000																								0							SO:0001583	missense			ENST00000263816.3	1	1	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378336	0.61735	.	.	ENSG00000081479	ENST00000263816	D	0.96300	-3.97	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.103871	0.64402	D	0.000006	D	0.97411	0.9153	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	P	0.57960	0.83	D	0.97434	1.0017	10	0.72032	D	0.01	.	13.6684	0.62409	0.0:0.9199:0.0:0.0801	.	1581	P98164	LRP2_HUMAN	Q	1581	ENSP00000263816:R1581Q	ENSP00000263816:R1581Q	R	-	2	0	LRP2	169800774	1.000000	0.71417	0.990000	0.47175	0.288000	0.27193	2.417000	0.44653	2.793000	0.96121	0.655000	0.94253	CGA		TCGA-IB-7893-01A-11D-2201-08	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	1	0	0	18	188	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	0.999981	18	181	0	32	2		0	0	0	0	32	2	-19.999960	1	0	121412	2	32	1	2	2	4	2.134613	1	0.210000	3.310000	0.347107	0.990000	0.630000	1.000000	1.000000	0.930292	0.990000	1	0.810000	1.000000
ZNF142	7701	broad.mit.edu	37	2	219503301	219503301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:219503301G>A	ENST00000449707.1	-	10	5246	c.4825C>T	c.(4825-4827)Cgc>Tgc	p.R1609C	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1609C	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142			38		Renal(207;0.0474)			GCATGATGGCGCAGGCCAGCA	0.612000													Colon(170;867 1942 8995 15834 18053)											0							SO:0001583	missense			ENST00000449707.1	1	1	hg19	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491651	0.84962	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.15952	2.38;2.38	5.83	5.83	0.93111	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	0.41994	0.1183	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.02156	-1.1204	10	0.38643	T	0.18	-50.1852	20.1133	0.97917	0.0:0.0:1.0:0.0	.	1609;1446	P52746;A8MWU9	ZN142_HUMAN;.	C	1609	ENSP00000408643:R1609C;ENSP00000398798:R1609C	ENSP00000398798:R1609C	R	-	1	0	ZNF142	219211545	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.267000	0.72546	2.758000	0.94735	0.609000	0.83330	CGC		TCGA-IB-7893-01A-11D-2201-08	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	1	0	0	29	281	0	53	0	4.600542e-01	1	15	0	53	2		0	0	0	0	0	2	1	1.000000	28	272	0	53	2		0	0	0	0	53	2	-3.017764	1	1	121176	1	33	1	2	2	4	2.099050	0	0.210000	3.310000	0.340237	0.990000	0.740000	1.000000	1.000000	0.964485	0.990000	1	0.900000	1.000000
STK36	27148	broad.mit.edu	37	2	219545333	219545333	+	Silent	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:219545333C>A	ENST00000295709.3	+	10	1423	c.1144C>A	c.(1144-1146)Cgg>Agg	p.R382R	STK36_ENST00000440309.1_Silent_p.R382R|STK36_ENST00000392105.3_Silent_p.R382R|STK36_ENST00000392106.2_Silent_p.R382R	NM_015690.4	NP_056505.2			serine/threonine kinase 36			52		Renal(207;0.0915)			CAGGGAAAACCGGACCACCCC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000295709.3	0	1	hg19	CCDS2421.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2	1	0	0	4	137	0	22	0	3.367398e-02	0	8	0	22	2		0	0	0	0	0	2	1	0.869252	4	125	0	22	2		0	0	0	0	22	2	-6.366978	1	0	0	0		1	2	2	4	2.099050	0	0.210000	3.310000	0.340237	0.370000	0.120000	1.000000	0.310000	0.421441	0.370000	0	0.220000	0.600000
TMEM18	129787	broad.mit.edu	37	2	669842	669842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:669842G>A	ENST00000281017.3	-	4	335	c.242C>T	c.(241-243)tCg>tTg	p.S81L	TMEM18_ENST00000405941.3_Missense_Mutation_p.S84L|TMEM18_ENST00000355654.2_Missense_Mutation_p.S68L	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18			10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)			CTGGTATTTCGAAAATAATCT	0.368000																								0							SO:0001583	missense			ENST00000281017.3	1	1	hg19	CCDS33141.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731026	0.69074	.	.	ENSG00000151353	ENST00000281017;ENST00000355654;ENST00000405941	.	.	.	5.7	5.7	0.88788	.	0.118870	0.64402	D	0.000015	T	0.79203	0.4406	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	P	0.58172	0.834	T	0.82034	-0.0657	9	0.52906	T	0.07	-8.7508	15.4029	0.74855	0.0:0.0:1.0:0.0	.	81	Q96B42	TMM18_HUMAN	L	81;68;84	.	ENSP00000281017:S81L	S	-	2	0	TMEM18	659842	1.000000	0.71417	0.401000	0.26359	0.148000	0.21650	8.083000	0.89515	2.705000	0.92388	0.549000	0.68633	TCG		TCGA-IB-7893-01A-11D-2201-08	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	1	0	0	21	146	0	25	1	9.999982e-01	20	145	0	25	2		0	0	0	0	0	2	1	0.999997	21	139	0	25	2		0	0	0	0	25	2	-20.000000	1	1	0	0		1	2	2	4	2.130471	1	0.210000	3.310000	0.347107	0.990000	0.940000	1.000000	1.000000	0.996572	0.990000	1	0.990000	1.000000
PODXL2	50512	broad.mit.edu	37	3	127387409	127387409	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:127387409G>A	ENST00000342480.6	+	5	1371	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2			26					AGAAGGAGCAGCACCTTCTCA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000342480.6	0	1	hg19	CCDS3044.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	0	0	0	3	70	0	11	0	1.960961e-01	0	15	0	11	2		0	0	0	0	0	2	1	0.808175	2	70	0	9	2		0	0	0	0	11	2	-6.900455	1	0	121082	1	21	1	2	2	4	2.131415	1	0.210000	3.310000	0.347107	0.540000	0.160000	1.000000	1.000000	0.579566	0.540000	0	0.310000	0.870000
DOCK3	1795	broad.mit.edu	37	3	51370621	51370621	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:51370621G>A	ENST00000266037.9	+	35	3571	c.3548G>A	c.(3547-3549)cGc>cAc	p.R1183H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3			45					GAAACATGGCGCGAGACCGGC	0.532000																								0							SO:0001583	missense			ENST00000266037.9	1	1	hg19	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411305	0.96072	0.0	1.21E-4	ENSG00000088538	ENST00000266037	T	0.52057	0.68	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.57312	-0.7833	10	0.18276	T	0.48	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	1183	Q8IZD9	DOCK3_HUMAN	H	1183	ENSP00000266037:R1183H	ENSP00000266037:R1183H	R	+	2	0	DOCK3	51345661	1.000000	0.71417	0.978000	0.43139	0.895000	0.52256	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	CGC		TCGA-IB-7893-01A-11D-2201-08	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	1	0	0	65	715	0	110	0	0	0	1	0	110	2	1	1	34	516	0	494	2	1	1.000000	65	703	0	110	2		0	0	0	0	110	2	-16.163120	1	1	120844	9	43	1	2	2	4	2.131415	1	0.210000	3.310000	0.347107	0.950000	0.750000	1.000000	1.000000	0.937251	0.950000	1	0.840000	1.000000
FAT4	79633	broad.mit.edu	37	4	126372829	126372829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:126372829C>T	ENST00000394329.3	+	9	10671	c.10658C>T	c.(10657-10659)cCt>cTt	p.P3553L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1851L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					AGCACAGGTCCTGCCACCAGT	0.493000																								0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451173	0.43531	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.54279	0.58;0.58	5.91	5.91	0.95273	Cadherin (4);Cadherin-like (1);	0.000000	0.34362	U	0.004024	T	0.50051	0.1593	L	0.41632	1.29	0.80722	D	1	P;P;P	0.46142	0.873;0.72;0.617	B;B;B	0.42282	0.382;0.334;0.178	T	0.42430	-0.9452	10	0.34782	T	0.22	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1851;3553;3553	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	3553;1851	ENSP00000377862:P3553L;ENSP00000335169:P1851L	ENSP00000335169:P1851L	P	+	2	0	FAT4	126592279	0.999000	0.42202	0.574000	0.28523	0.231000	0.25187	7.662000	0.83803	2.793000	0.96121	0.655000	0.94253	CCT		TCGA-IB-7893-01A-11D-2201-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	181	683	0	163	0	9.145973e-01	1	17	0	163	2		0	0	0	0	0	2	1	1.000000	178	665	0	163	2		0	0	0	0	163	2	-3.649024	1	1	0	0		1	1	2	3	1.989324	0	0.210000	3.310000	0.285068	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
C4orf22	255119	broad.mit.edu	37	4	81791173	81791173	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:81791173T>A	ENST00000358105.3	+	4	409	c.360T>A	c.(358-360)aaT>aaA	p.N120K	C4orf22_ENST00000508675.1_Missense_Mutation_p.N137K	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22			15					GTGACAGAAATTCTCATGGGC	0.363000																								0							SO:0001583	missense			ENST00000358105.3	1	1	hg19	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259091	0.39896	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.30448	1.53;1.53	5.07	1.47	0.22746	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.91249	3.19	0.35988	D	0.836487	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.987	T	0.66232	-0.5975	10	0.66056	D	0.02	-28.3489	7.5202	0.27624	0.0:0.3305:0.0:0.6695	.	137;120	E7EQ13;Q6V702	.;CD022_HUMAN	K	120;137	ENSP00000350818:N120K;ENSP00000425786:N137K	ENSP00000350818:N120K	N	+	3	2	C4orf22	82010197	0.863000	0.29885	0.981000	0.43875	0.101000	0.19017	0.974000	0.29436	0.775000	0.33450	0.477000	0.44152	AAT		TCGA-IB-7893-01A-11D-2201-08	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	1	0	1	84	403	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1.000000	82	393	0	90	2		0	0	0	0	90	2	-20.000000	1	1	0	0		1	1	2	3	1.989324	0	0.210000	3.310000	0.285068	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
LRP11	84918	broad.mit.edu	37	6	150164252	150164252	+	Silent	SNP	T	T	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:150164252T>C	ENST00000239367.2	-	3	785	c.780A>G	c.(778-780)caA>caG	p.Q260Q	LRP11_ENST00000546019.1_Silent_p.Q5Q|LRP11_ENST00000367368.2_Silent_p.Q260Q	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11			8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)		GGGTTCCTGATTGAGGCACCT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000239367.2	1	1	hg19	CCDS5220.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	1	0	1	44	303	0	60	1	9.990238e-01	11	63	0	60	2		0	0	0	0	0	2	1	1.000000	41	296	0	59	2		0	0	0	0	60	2	-20.000000	1	1	121412	1	31	1	0	2	2	1.775172	1	0.210000	3.310000	0.210000	0.990000	0.890000	1.000000	1.000000	0.993431	0.990000	1	0.990000	1.000000
BRPF3	27154	broad.mit.edu	37	6	36182091	36182091	+	Missense_Mutation	SNP	C	C	T	rs148223802	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:36182091C>T	ENST00000357641.6	+	8	3170	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R973W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	p.R973W(1)		40					GCGCCACTCCCGGAAGCGGCC	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000357641.6	1	1	hg19	CCDS34437.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	23.2	4.385814	0.82792	0.003633	0.0	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	T;T	0.22336	2.16;1.96	5.8	5.8	0.92144	.	0.300838	0.31784	N	0.007072	T	0.39937	0.1097	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.15607	-1.0431	10	0.66056	D	0.02	.	18.2355	0.89948	0.0:1.0:0.0:0.0	.	973	Q9ULD4	BRPF3_HUMAN	W	973;973;387	ENSP00000350267:R973W;ENSP00000436504:R973W	ENSP00000350267:R973W	R	+	1	2	BRPF3	36290069	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.620000	0.36976	2.743000	0.94032	0.455000	0.32223	CGG		TCGA-IB-7893-01A-11D-2201-08	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	1	0	1	41	280	0	82	1	9.701627e-01	5	36	0	82	2		0	0	0	0	0	2	1	1.000000	37	247	0	73	2		0	0	0	0	82	2	-2.473816	0	1	121390	71	49	1	0	2	2	1.775172	1	0.210000	3.310000	0.210000	0.990000	0.890000	1.000000	1.000000	0.993230	0.990000	1	0.990000	1.000000
PXT1	222659	broad.mit.edu	37	6	36368246	36368246	+	Silent	SNP	A	A	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:36368246A>G	ENST00000454782.2	-	4	768	c.285T>C	c.(283-285)caT>caC	p.H95H		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1								GAACCATCCTATGATCAATGT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000454782.2	1	1	hg19	CCDS4820.2	.	.	.	.	.	.	.	.	.	.	A	4.071	0.011025	0.07912	.	.	ENSG00000179165	ENST00000459696	.	.	.	4.9	-4.38	0.03622	.	.	.	.	.	T	0.10121	0.0248	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32188	-0.9916	4	.	.	.	-6.1218	5.9208	0.19080	0.2775:0.2882:0.4342:0.0	.	.	.	.	T	19	.	.	I	-	2	0	PXT1	36476224	0.000000	0.05858	0.003000	0.11579	0.737000	0.42083	-1.593000	0.02096	-0.991000	0.03476	0.454000	0.30748	ATA		TCGA-IB-7893-01A-11D-2201-08	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357516.2	1	0	0	190	564	0	135	0	0	0	1	0	135	2		0	0	0	0	0	2	1	1.000000	187	542	0	134	2		0	0	0	0	135	2	-20.000000	1	1	121412	2	33	1	0	2	2	1.775172	1	0.210000	3.310000	0.210000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
DOCK4	9732	broad.mit.edu	37	7	111503593	111503593	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:111503593C>T	ENST00000437633.1	-	23	2564	c.2308G>A	c.(2308-2310)Gtg>Atg	p.V770M	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.V770M	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	p.V758M(1)		72		Acute lymphoblastic leukemia(1;0.0441)			TCTGAGTACACGGCAGGGAAA	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000437633.1	0	1	hg19	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769804	0.69992	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03301	3.98;3.98	5.23	5.23	0.72850	.	0.126462	0.52532	D	0.000063	T	0.07548	0.0190	L	0.45352	1.415	0.80722	D	1	D;D;P;D	0.58268	0.97;0.97;0.947;0.982	P;B;B;P	0.46796	0.522;0.418;0.324;0.527	T	0.11372	-1.0590	10	0.54805	T	0.06	.	18.9943	0.92806	0.0:1.0:0.0:0.0	.	770;770;770;770	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.;.;DOCK4_HUMAN;.	M	758;770;770;758;769	ENSP00000410746:V770M;ENSP00000404179:V770M	ENSP00000345432:V758M	V	-	1	0	DOCK4	111290829	0.994000	0.37717	0.985000	0.45067	0.832000	0.47134	3.082000	0.50128	2.706000	0.92434	0.563000	0.77884	GTG		TCGA-IB-7893-01A-11D-2201-08	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1	12	105	0	24	0	6.847413e-01	0	22	0	24	2		0	0	0	0	0	2	1	0.999160	12	102	0	24	2		0	0	0	0	24	2	-18.641130	1	1	120830	2	24	1	2	2	4	2.109791	1	0.210000	3.310000	0.344833	0.990000	0.670000	1.000000	1.000000	0.962554	0.990000	1	0.910000	1.000000
CFTR	1080	broad.mit.edu	37	7	117250657	117250657	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:117250657G>A	ENST00000003084.6	+	19	3205	c.3073G>A	c.(3073-3075)Gct>Act	p.A1025T	CFTR_ENST00000454343.1_Missense_Mutation_p.A964T|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)			69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)	Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AGTGATAGTGGCTTTTATTAT	0.383000									Cystic Fibrosis															0							SO:0001583	missense	Familial Cancer Database	CF	ENST00000003084.6	1	1	hg19	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	9.896	1.205615	0.22205	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.89617	-2.54;-2.54;-2.54	6.16	4.37	0.52481	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.194135	0.56097	N	0.000040	D	0.85767	0.5773	L	0.49571	1.57	0.35828	D	0.825115	B	0.02656	0.0	B	0.12156	0.007	D	0.84020	0.0353	10	0.48119	T	0.1	-3.1277	13.4064	0.60915	0.1273:0.0:0.8727:0.0	.	1025	P13569	CFTR_HUMAN	T	1025;964;995	ENSP00000003084:A1025T;ENSP00000403677:A964T;ENSP00000389119:A995T	ENSP00000003084:A1025T	A	+	1	0	CFTR	117037893	1.000000	0.71417	0.024000	0.17045	0.185000	0.23345	5.733000	0.68571	0.941000	0.37499	-0.157000	0.13467	GCT		TCGA-IB-7893-01A-11D-2201-08	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	1	0	0	35	341	0	40	0	2.815442e-01	0	11	0	40	2		0	0	0	0	0	2	1	1.000000	33	333	0	40	2		0	0	0	0	40	2	-12.081370	1	1	0	0		1	2	2	4	2.109791	1	0.210000	3.310000	0.344833	0.990000	0.760000	1.000000	1.000000	0.968171	0.990000	1	0.910000	1.000000
WASL	8976	broad.mit.edu	37	7	123349222	123349222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:123349222G>A	ENST00000223023.4	-	2	505	c.173C>T	c.(172-174)tCa>tTa	p.S58L		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like			29					GCACTTCTTTGACCACATACA	0.338000																								0							SO:0001583	missense			ENST00000223023.4	1	1	hg19	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860939	0.71834	.	.	ENSG00000106299	ENST00000223023	D	0.99422	-5.88	5.58	4.68	0.58851	EVH1 (3);Pleckstrin homology-type (1);	0.524667	0.20818	N	0.085115	D	0.97867	0.9299	L	0.42245	1.32	0.29642	N	0.84463	B	0.02656	0.0	B	0.08055	0.003	D	0.95667	0.8720	10	0.54805	T	0.06	-15.64	10.472	0.44642	0.1453:0.0:0.8547:0.0	.	58	O00401	WASL_HUMAN	L	58	ENSP00000223023:S58L	ENSP00000223023:S58L	S	-	2	0	WASL	123136458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.849000	0.48286	2.789000	0.95967	0.655000	0.94253	TCA		TCGA-IB-7893-01A-11D-2201-08	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	1	0	0	38	387	0	50	1	9.999713e-01	3	157	0	50	2		0	0	0	0	0	2	1	1.000000	37	378	0	50	2		0	0	0	0	50	2	-11.821950	1	1	0	0		1	2	2	4	2.109791	1	0.210000	3.310000	0.344833	0.990000	0.740000	1.000000	1.000000	0.957134	0.990000	1	0.880000	1.000000
DAGLB	221955	broad.mit.edu	37	7	6465643	6465643	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:6465643G>A	ENST00000297056.6	-	7	1201	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	DAGLB_ENST00000436575.1_Silent_p.F303F|DAGLB_ENST00000425398.2_Silent_p.F215F|DAGLB_ENST00000421761.2_Silent_p.F88F|DAGLB_ENST00000428902.2_Silent_p.F217F	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta			26		Ovarian(82;0.232)			TGACGTGGATGAAGTCCCTGT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000297056.6	1	1	hg19	CCDS5350.1																																																																																				TCGA-IB-7893-01A-11D-2201-08	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	1	0	0	75	306	0	62	1	9.981203e-01	7	34	0	62	2		0	0	0	0	0	2	1	1.000000	72	295	0	62	2		0	0	0	0	62	2	-20.000000	1	1	0	0		1	2	2	4	2.109791	1	0.210000	3.310000	0.344833	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
VPS13B	157680	broad.mit.edu	37	8	100791108	100791108	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:100791108T>C	ENST00000358544.2	+	42	7814	c.7703T>C	c.(7702-7704)gTg>gCg	p.V2568A	VPS13B_ENST00000357162.2_Missense_Mutation_p.V2543A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)			193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)		CAAAGTGTGGTGAAACCCTTC	0.448000													Colon(161;2205 2542 7338 31318)											0							SO:0001583	missense			ENST00000358544.2	0	1	hg19	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501880	0.85176	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72835	-0.69;-0.69	5.44	5.44	0.79542	.	0.073471	0.53938	D	0.000049	T	0.81456	0.4826	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.72625	0.913;0.978	D	0.83533	0.0092	10	0.87932	D	0	.	15.4875	0.75578	0.0:0.0:0.0:1.0	.	2543;2568	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	A	2543;2568	ENSP00000349685:V2543A;ENSP00000351346:V2568A	ENSP00000349685:V2543A	V	+	2	0	VPS13B	100860284	1.000000	0.71417	0.937000	0.37676	0.896000	0.52359	6.126000	0.71635	2.063000	0.61619	0.533000	0.62120	GTG		TCGA-IB-7893-01A-11D-2201-08	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	0	0	0	10	669	0	91	0	7.269072e-02	0	27	0	91	2		0	0	0	0	0	2	1	0.996461	10	652	0	91	2		0	0	0	0	91	2	-7.644808	1	1	0	0		1	2	3	5	2.282847	1	0.210000	3.310000	0.391957	0.190000	0.080000	1.000000	0.190000	0.229805	0.190000	0	0.130000	0.270000
CSGALNACT1	55790	broad.mit.edu	37	8	19363332	19363332	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:19363332C>T	ENST00000454498.2	-	4	1027	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R5H	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1			31					CAGCCCCCGGCGAACCATCAT	0.602000																								0							SO:0001583	missense			ENST00000454498.2	1	1	hg19	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259207	0.95368	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602;ENST00000523262;ENST00000517494;ENST00000520003;ENST00000524213	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.84	5.84	0.93424	.	0.061588	0.64402	D	0.000004	T	0.54822	0.1882	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	P	0.60117	0.869	T	0.56643	-0.7945	10	0.87932	D	0	-29.161	18.7017	0.91623	0.0:1.0:0.0:0.0	.	5	Q8TDX6	CGAT1_HUMAN	H	5	ENSP00000411816:R5H;ENSP00000330805:R5H;ENSP00000310891:R5H;ENSP00000429809:R5H;ENSP00000442155:R5H	ENSP00000310891:R5H	R	-	2	0	CSGALNACT1	19407612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.364000	0.79526	2.779000	0.95612	0.655000	0.94253	CGC		TCGA-IB-7893-01A-11D-2201-08	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	1	0	0	37	433	0	103	0	6.410239e-01	1	26	0	103	2		0	0	0	0	0	2	1	1.000000	35	418	0	101	2		0	0	0	0	103	2	-20.000000	1	1	0	0		1	2	2	4	2.146082	1	0.210000	3.310000	0.347107	0.910000	0.650000	1.000000	1.000000	0.895492	0.910000	1	0.770000	1.000000
SVEP1	79987	broad.mit.edu	37	9	113205879	113205879	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:113205879C>A	ENST00000401783.2	-	27	4921	c.4585G>T	c.(4585-4587)Gat>Tat	p.D1529Y	SVEP1_ENST00000302728.8_Missense_Mutation_p.D1529Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1506Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1			147					AATTTCCCATCGATATAGACT	0.438000																								0							SO:0001583	missense			ENST00000401783.2	1	1	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150519	0.78001	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.81415	-0.5;-0.5;-1.49	5.46	5.46	0.80206	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.048935	0.85682	D	0.000000	D	0.93478	0.7919	H	0.96080	3.765	0.45216	D	0.998223	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.95016	0.8156	10	0.87932	D	0	.	19.6743	0.95924	0.0:1.0:0.0:0.0	.	1529;1529	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	Y	1529;1506;1529	ENSP00000384917:D1529Y;ENSP00000363593:D1506Y;ENSP00000304118:D1529Y	ENSP00000304118:D1529Y	D	-	1	0	SVEP1	112245700	1.000000	0.71417	0.982000	0.44146	0.866000	0.49608	5.576000	0.67437	2.721000	0.93114	0.655000	0.94253	GAT		TCGA-IB-7893-01A-11D-2201-08	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	23	167	0	25	0	9.619518e-01	0	42	0	25	2		0	0	0	0	0	2	1	1.000000	23	166	0	25	2		0	0	0	0	25	2	-5.906780	1	1	0	0		1	2	2	4	2.176361	1	0.210000	3.310000	0.347107	0.990000	0.930000	1.000000	1.000000	0.995872	0.990000	1	0.990000	1.000000
ADAMTSL1	92949	broad.mit.edu	37	9	18753360	18753360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:18753360G>A	ENST00000380548.4	+	16	2410	c.2071G>A	c.(2071-2073)Gtc>Atc	p.V691I		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1			42					GACCAGAGACGTCTTCTGCAG	0.532000																								0							SO:0001583	missense			ENST00000380548.4	0	1	hg19	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801218	0.50315	.	.	ENSG00000178031	ENST00000380548	T	0.54071	0.59	5.85	4.93	0.64822	.	0.332935	0.13323	N	0.396531	T	0.49236	0.1545	M	0.62154	1.92	0.80722	D	1	B	0.34226	0.443	B	0.29524	0.103	T	0.49303	-0.8954	10	0.54805	T	0.06	.	11.3021	0.49311	0.1505:0.0:0.8495:0.0	.	691	Q8N6G6	ATL1_HUMAN	I	691	ENSP00000369921:V691I	ENSP00000369921:V691I	V	+	1	0	ADAMTSL1	18743360	1.000000	0.71417	0.983000	0.44433	0.706000	0.40770	5.786000	0.69006	1.412000	0.46977	0.655000	0.94253	GTC		TCGA-IB-7893-01A-11D-2201-08	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	0	0	0	4	135	0	19	0	1.516992e-01	0	19	0	19	2		0	0	0	0	0	2	1	0.884504	2	133	0	18	2		0	0	0	0	19	2	-6.589179	1	0	0	0		1	0	4	4	2.135437	1	0.210000	3.310000	0.347107	0.370000	0.120000	0.780000	0.320000	0.402693	0.370000	0	0.220000	0.570000
BHLHB9	80823	broad.mit.edu	37	X	102004308	102004308	+	Missense_Mutation	SNP	G	G	T	rs112563174	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:102004308G>T	ENST00000372735.1	+	4	970	c.385G>T	c.(385-387)Gct>Tct	p.A129S	BHLHB9_ENST00000361229.4_Missense_Mutation_p.A129S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A129S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9			26					TGGAGAAGAGGCTGGTAATAG	0.512000																								0							SO:0001583	missense			ENST00000372735.1	0	1	hg19	CCDS14502.1	2	0.0012055455093429777	0	0.0	0	0.0	0	0.0	0	0.0	G	0.419	-0.909449	0.02434	0.004954	0.0	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	4.24	1.25	0.21368	.	1.339950	0.05332	N	0.528551	T	0.14485	0.0350	L	0.59436	1.845	0.09310	N	1	B	0.34103	0.437	B	0.32090	0.14	T	0.30534	-0.9975	9	.	.	.	-8.1436	5.1928	0.15218	0.2257:0.1632:0.6111:0.0	.	129	Q6PI77	BHLH9_HUMAN	S	129	ENSP00000403226:A129S;ENSP00000354675:A129S;ENSP00000405893:A129S;ENSP00000391722:A129S;ENSP00000361820:A129S	.	A	+	1	0	BHLHB9	101890964	0.010000	0.17322	0.092000	0.20876	0.084000	0.17831	-0.220000	0.09215	0.118000	0.18165	0.529000	0.55759	GCT		TCGA-IB-7893-01A-11D-2201-08	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	0	0	0	6	287	1	51	0	3.467282e-02	0	12	1	51	2		0	0	0	0	0	2	0	0.007913	6	278	1	51	18		0	0	0	1	51	2	-7.016633	1	1	121410	60	50	1	0	1	1			0.210000	3.310000	0.210000	0.100000	0.030000	0.200000	0.100000	0.111541	0.100000	0	0.060000	0.150000
GUCY2F	2986	broad.mit.edu	37	X	108718972	108718972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:108718972G>A	ENST00000218006.2	-	2	485	c.194C>T	c.(193-195)tCg>tTg	p.S65L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal			67					TGAAAACAGCGAATCACAAGC	0.532000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000218006.2	0	1	hg19	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976156	0.34848	.	.	ENSG00000101890	ENST00000218006	T	0.73152	-0.72	4.95	3.15	0.36227	.	0.187399	0.47852	D	0.000202	T	0.37839	0.1018	N	0.02539	-0.55	0.26327	N	0.977573	B	0.02656	0.0	B	0.01281	0.0	T	0.21586	-1.0241	10	0.11794	T	0.64	.	6.7942	0.23717	0.0986:0.0:0.7215:0.1799	.	65	P51841	GUC2F_HUMAN	L	65	ENSP00000218006:S65L	ENSP00000218006:S65L	S	-	2	0	GUCY2F	108605628	1.000000	0.71417	0.773000	0.31616	0.757000	0.42996	3.428000	0.52792	1.182000	0.42928	0.600000	0.82982	TCG		TCGA-IB-7893-01A-11D-2201-08	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	0	0	0	5	232	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	0.931638	3	225	0	48	2		0	0	0	0	50	2	-6.414720	1	0	0	0		1	0	1	1			0.210000	3.310000	0.210000	0.100000	0.030000	0.220000	0.100000	0.117649	0.100000	0	0.060000	0.160000
GPR112	139378	broad.mit.edu	37	X	135428344	135428344	+	Missense_Mutation	SNP	C	C	G	rs138190399	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:135428344C>G	ENST00000394143.1	+	6	2770	c.2479C>G	c.(2479-2481)Cca>Gca	p.P827A	GPR112_ENST00000412101.1_Missense_Mutation_p.P622A|GPR112_ENST00000370652.1_Missense_Mutation_p.P827A|GPR112_ENST00000394141.1_Missense_Mutation_p.P622A|GPR112_ENST00000287534.4_Missense_Mutation_p.P764A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112			199	Acute lymphoblastic leukemia(192;0.000127)				GACCCCTGTACCAAAGTCAGC	0.388000																								0							SO:0001583	missense			ENST00000394143.1	0	1	hg19	CCDS35409.1	4	0.0024110910186859553	2	0.004098360655737705	0	0.0	0	0.0	0	0.0	C	12.72	2.021497	0.35701	0.016428	0.0	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.51817	0.73;0.73;0.69;0.77;0.69	2.99	-0.00263	0.14029	.	.	.	.	.	T	0.33059	0.0850	L	0.29908	0.895	0.09310	N	1	B;B;D	0.76494	0.27;0.154;0.999	B;B;D	0.75484	0.095;0.053;0.986	T	0.23084	-1.0198	9	0.87932	D	0	.	4.4262	0.11503	0.0:0.3864:0.4636:0.15	.	764;622;827	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	A	827;827;622;764;622	ENSP00000377699:P827A;ENSP00000359686:P827A;ENSP00000416526:P622A;ENSP00000287534:P764A;ENSP00000377697:P622A	ENSP00000287534:P764A	P	+	1	0	GPR112	135256010	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-0.458000	0.06737	0.020000	0.15106	0.284000	0.19432	CCA		TCGA-IB-7893-01A-11D-2201-08	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	0	0	0	7	347	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	0.980067	7	343	0	63	2		0	0	0	0	63	2	-3.396111	1	1	121394	169	57	1	0	1	1			0.210000	3.310000	0.210000	0.090000	0.040000	0.180000	0.090000	0.105867	0.090000	0	0.060000	0.140000
UBQLN2	29978	broad.mit.edu	37	X	56590932	56590932	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:56590932C>G	ENST00000338222.5	+	1	907	c.626C>G	c.(625-627)cCa>cGa	p.P209R		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2			21					ATGGCTAATCCACAGATGCAG	0.463000													Esophageal Squamous(104;218 1492 6022 10838 28884)											0							SO:0001583	missense			ENST00000338222.5	1	1	hg19	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988504	0.53934	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.29655	1.56	4.89	4.89	0.63831	Heat shock chaperonin-binding (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.64360	0.2591	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	0.969;1.0	P;D	0.97110	0.903;1.0	T	0.73675	-0.3908	10	0.72032	D	0.01	-5.6539	14.6449	0.68754	0.0:1.0:0.0:0.0	.	209;209	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	R	209	ENSP00000345195:P209R	ENSP00000345195:P209R	P	+	2	0	UBQLN2	56607657	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.604000	0.82830	2.428000	0.82296	0.600000	0.82982	CCA		TCGA-IB-7893-01A-11D-2201-08	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	1	0	1	35	192	0	43	1	9.999986e-01	24	96	0	43	2		0	0	0	0	0	2	1	1.000000	34	188	0	43	2		0	0	0	0	43	2	-20.000000	1	1	0	0		1	0	1	1			0.210000	3.310000	0.210000	0.720000	0.520000	0.930000	0.720000	0.732012	0.720000	0	0.610000	0.840000
