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
MBIP	51562	broad.mit.edu	37	14	36783734	36783735	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:36783734_36783735insT	ENST00000416007.4	-	4	641_642	c.554_555insA	c.(553-555)gttfs	p.V185fs	MBIP_ENST00000318473.7_Frame_Shift_Ins_p.V185fs|MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000359527.7_Frame_Shift_Ins_p.V185fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1			8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)		TACAATCAATAACATTGCAAAA	0.277000																								0							SO:0001589	frameshift_variant			ENST00000416007.4	0	1	hg19	CCDS9658.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	1	0	0	22	114	0	24	0	9.101949e-01	1	23	0	24	2			0	0	0	0		1	0.999999	22	114	0	24	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.049610	0	0.550000	1.940000	0.551234	0.590000	3.900000e-01	0.840000	0.580000	0.604070	0.590000	0	0.480000	0.720000
CDKN2A	1029	broad.mit.edu	37	9	21971143	21971152	+	Frame_Shift_Del	DEL	CAGTTGGGCT	CAGTTGGGCT	-			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			CAGTTGGGCT	-	CAGTTGGGCT	CAGTTGGGCT		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:21971143_21971152delCAGTTGGGCT	ENST00000304494.5	-	2	476_485	c.206_215delAGCCCAACTG	c.(205-216)gagcccaactgcfs	p.EPNC69fs	CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.GAQL124fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.EPNC69fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.EPNC18fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.?(44)|p.E69V(3)|p.N71K(3)|p.P70L(2)|p.C72fs*74(2)|p.N71D(2)|p.E61fs*49(2)|p.N71fs*50(1)|p.P70A(1)|p.V59fs*45(1)|p.P70S(1)|p.N71N(1)|p.N71I(1)|p.E61fs*50(1)|p.C72S(1)|p.C72Y(1)|p.C72fs*71(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.C72G(1)|p.A68fs*3(1)|p.0(1)|p.L127fs*>47(1)|p.L63fs*75(1)|p.E69fs*51(1)|p.Q126R(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.N71fs*1(1)		4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)			GGGGTCGGCGCAGTTGGGCTCCGCGCCGTG	0.719000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1395	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(17)|Deletion - Frameshift(13)|Insertion - Frameshift(2)|Deletion - In frame(1)|Complex - frameshift(1)|Substitution - coding silent(1)	GRCh37	CD044135|CM023691|CM040398|CM065061|CM940228|CM980328|CM983987	CDKN2A|p14arf	D|M		SO:0001589	frameshift_variant			ENST00000304494.5	0	1	hg19	CCDS6510.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	16	70	0	26	0	9.999871e-01	0	97	0	26	2	1	9.997617e-01	18	50	0	38	2	1	0.745196	26	75	2	28	16	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.485344	1	0.550000	1.940000	0.379310	0.480000	3.000000e-01	0.710000	0.480000	0.499702	0.480000	0	0.380000	0.600000
ATRNL1	26033	broad.mit.edu	37	10	117061456	117061456	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:117061456G>C	ENST00000355044.3	+	17	2847	c.2721G>C	c.(2719-2721)atG>atC	p.M907I	ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_Missense_Mutation_p.M4I	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1			95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)			TGGAGTGTATGTGGTGCAGCA	0.453000																								0							SO:0001583	missense			ENST00000355044.3	1	1	hg19	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.24|19.24	3.789583|3.789583	0.70337|0.70337	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.21932|.	2.34;1.98|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68668|0.68668	0.3026|0.3026	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	P;D|.	0.54964|.	0.936;0.969|.	P;D|.	0.70227|.	0.885;0.968|.	T|T	0.63413|0.63413	-0.6643|-0.6643	10|5	0.30854|.	T|.	0.27|.	-11.4902|-11.4902	19.7031|19.7031	0.96063|0.96063	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;907|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	I|L	907;4|37	ENSP00000347152:M907I;ENSP00000409624:M4I|.	ENSP00000347152:M907I|.	M|V	+|+	3|1	0|0	ATRNL1|ATRNL1	117051446|117051446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.754000|9.754000	0.98908|0.98908	2.664000|2.664000	0.90586|0.90586	0.591000|0.591000	0.81541|0.81541	ATG|GTG		TCGA-FB-A78T-01A-12D-A32N-08	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	1	0	1	67	188	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	1.000000	67	187	0	64	2		0	0	0	0	64	2	-5.492914	1	1	0	0		1	1	2	3	2.081957	0	0.550000	1.940000	0.556104	0.970000	7.700000e-01	1.000000	1.000000	0.946177	0.970000	1	0.860000	1.000000
MRC1L1	0	broad.mit.edu	37	10	17949700	17949700	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:17949700G>C	ENST00000331429.2	+	28	4167	c.4064G>C	c.(4063-4065)tGt>tCt	p.C1355S									14					GGATATATTTGTAAAAGACCA	0.373000																								0							SO:0001583	missense			ENST00000331429.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	.	18.38	3.612124	0.66672	.	.	ENSG00000183748	ENST00000331429	D	0.97688	-4.49	4.04	4.04	0.47022	.	0.000000	0.64402	U	0.000012	D	0.98654	0.9549	.	.	.	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99797	1.1034	8	0.87932	D	0	-10.5846	16.4284	0.83832	0.0:0.0:1.0:0.0	.	1355	B9EJA8	.	S	1355	ENSP00000332124:C1355S	ENSP00000332124:C1355S	C	+	2	0	AL928580.1	17989706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.223000	0.78033	2.086000	0.62901	0.508000	0.49915	TGT		TCGA-FB-A78T-01A-12D-A32N-08	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1	0	0	0	23	611	0	141	0	4.436704e-01	0	40	0	141	2		0	0	0	0	0	2	1	0.999999	23	591	0	152	2		0	0	0	0	141	2	-3.702262	1	1	0	0		1	1	2	3	2.059689	0	0.550000	1.940000	0.552461	0.130000	8.000000e-02	0.210000	0.140000	0.146242	0.130000	0	0.100000	0.170000
CASP1	834	broad.mit.edu	37	11	104904955	104904955	+	Missense_Mutation	SNP	C	C	T	rs2509649		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:104904955C>T	ENST00000533400.1	-	2	289	c.254G>A	c.(253-255)gGg>gAg	p.G85E	CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	p.G85E(2)		5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		Minocycline(DB01017)	TCCCAGCGTCCCTGCCAGGTA	0.468000													NSCLC(41;1246 1743 4934)											2	Substitution - Missense(2)						SO:0001583	missense			ENST00000533400.1	0	1	hg19	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	0.205	-1.041669	0.02013	.	.	ENSG00000137752	ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	4.83	-8.48	0.00935	DEATH-like (2);Caspase Recruitment (3);	0.759254	0.12546	N	0.459494	T	0.05823	0.0152	N	0.05608	-0.01	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.0;0.001;0.001	T	0.38908	-0.9639	10	0.02654	T	1	.	8.2173	0.31519	0.0:0.3778:0.1052:0.517	rs2509649	85;46;85;85;69	B4DKN4;B4DVD8;P29466-2;P29466;G3V169	.;.;.;CASP1_HUMAN;.	E	69;85;85;85;85;46	ENSP00000432340:G69E;ENSP00000433138:G85E;ENSP00000410076:G85E;ENSP00000376844:G85E;ENSP00000434779:G85E;ENSP00000434259:G46E	ENSP00000376844:G85E	G	-	2	0	CASP1	104410165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.454000	0.06770	-1.188000	0.02705	-1.472000	0.01007	GGG		TCGA-FB-A78T-01A-12D-A32N-08	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	0	0	0	6	450	1	162	0	3.261431e-02	0	42	1	162	3		0	0	0	0	0	2	0	0.145984	6	435	1	160	11		0	0	0	1	162	2	-1.774916	0	1	121412	6	33	1	0	1	1	1.512023	1	0.550000	1.940000	0.381656	0.030000	0	0.070000	0.040000	0.040314	0.030000	0	0.020000	0.050000
TEX12	56158	broad.mit.edu	37	11	112040055	112040055	+	Splice_Site	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:112040055G>A	ENST00000280358.4	+	2	195		c.e2+1		TEX12_ENST00000530752.1_Splice_Site|RP11-356J5.4_ENST00000527589.1_RNA|AP002884.3_ENST00000532612.1_5'Flank|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000525468.1_Splice_Site	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12			4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			AGAATTGGAGGTAAGCTGTAT	0.373000																								0							SO:0001630	splice_region_variant			ENST00000280358.4	0	1	hg19	CCDS31679.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289894	0.23478	.	.	ENSG00000150783	ENST00000530752;ENST00000280358	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.511	0.67787	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEX12	111545265	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	4.383000	0.59600	2.880000	0.98712	0.650000	0.86243	.		TCGA-FB-A78T-01A-12D-A32N-08	TEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392417.1	0	0	0	5	333	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	0.937503	5	332	0	104	2		0	0	0	0	104	2	-2.583959	1	1	0	0		1	0	1	1	1.512023	1	0.550000	1.940000	0.381656	0.030000	1.000000e-02	0.090000	0.040000	0.046483	0.030000	0	0.020000	0.060000
PSMA1	5682	broad.mit.edu	37	11	14536026	14536026	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:14536026C>T	ENST00000396394.2	-	5	662	c.266G>A	c.(265-267)cGt>cAt	p.R89H	PSMA1_ENST00000419365.2_Missense_Mutation_p.R89H|PSMA1_ENST00000530457.1_Missense_Mutation_p.R64H|PSMA1_ENST00000418988.2_Missense_Mutation_p.R95H|PSMA1_ENST00000555531.1_Missense_Mutation_p.R89H|PSMA1_ENST00000396393.1_Missense_Mutation_p.R89H	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1			3					ACACTCCTGACGCATAAAATT	0.308000																								0							SO:0001583	missense			ENST00000396394.2	0	1	hg19	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096602	0.94197	2.27E-4	0.0	ENSG00000129084	ENST00000419365;ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	H	0.94542	3.55	0.80722	D	1	B;P;P	0.41710	0.389;0.76;0.543	B;B;B	0.34931	0.047;0.192;0.18	T	0.66380	-0.5938	10	0.66056	D	0.02	-2.5165	19.813	0.96554	0.0:1.0:0.0:0.0	.	89;95;89	B4E0X6;P25786-2;P25786	.;.;PSA1_HUMAN	H	89;89;89;64;95	ENSP00000392242:R89H;ENSP00000379676:R89H;ENSP00000379675:R89H;ENSP00000441166:R64H;ENSP00000414359:R95H	ENSP00000379675:R89H	R	-	2	0	PSMA1	14492602	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.018000	0.76406	2.683000	0.91414	0.591000	0.81541	CGT		TCGA-FB-A78T-01A-12D-A32N-08	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	1	0	1	12	111	0	17	1	9.999999e-01	61	325	0	17	2		0	0	0	0	0	2	1	0.999275	12	111	0	17	2		0	0	0	0	17	2	-18.325790	1	1	121400	2	26	1	1	2	3	2.055466	0	0.550000	1.940000	0.552461	0.360000	2.000000e-01	0.620000	0.350000	0.383872	0.360000	0	0.270000	0.480000
KCNJ11	3767	broad.mit.edu	37	11	17408690	17408690	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:17408690G>A	ENST00000339994.4	-	1	1516	c.949C>T	c.(949-951)Ccc>Tcc	p.P317S	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.P230S	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11			16				Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GCTACAATGGGCACAAAGCGC	0.607000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000339994.4	0	1	hg19	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227133	0.39399	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.91996	-2.95;-2.95	5.43	5.43	0.79202	.	0.055715	0.64402	D	0.000001	D	0.89283	0.6671	L	0.47078	1.49	0.58432	D	0.999999	P	0.34977	0.478	B	0.30646	0.118	D	0.87963	0.2731	10	0.38643	T	0.18	.	19.2428	0.93891	0.0:0.0:1.0:0.0	.	317	B2RC52	.	S	317;230	ENSP00000345708:P317S;ENSP00000434755:P230S	ENSP00000345708:P317S	P	-	1	0	KCNJ11	17365266	1.000000	0.71417	0.993000	0.49108	0.826000	0.46750	8.062000	0.89475	2.548000	0.85928	0.561000	0.74099	CCC		TCGA-FB-A78T-01A-12D-A32N-08	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	0	0	0	5	498	0	123	0	1.320010e-02	0	14	0	123	2		0	0	0	0	0	2	1	0.935841	5	492	0	121	2		0	0	0	0	123	2	-2.279353	0	1	0	0		1	1	2	3	2.055466	0	0.550000	1.940000	0.552461	0.030000	0	0.090000	0.040000	0.052414	0.030000	0	0.010000	0.060000
NR1H3	10062	broad.mit.edu	37	11	47281348	47281348	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:47281348C>T	ENST00000467728.1	+	2	1288	c.50C>T	c.(49-51)gCg>gTg	p.A17V	NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.A17V|NR1H3_ENST00000405853.3_Missense_Mutation_p.A17V|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000407404.1_Missense_Mutation_p.A17V|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000405576.1_5'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3			20					TCAGACTCTGCGGTGGAGCTG	0.632000											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000467728.1	0	1	hg19	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	4.490	0.090832	0.08632	.	.	ENSG00000025434	ENST00000436778;ENST00000407404;ENST00000444396;ENST00000457932;ENST00000449369;ENST00000441012;ENST00000437276;ENST00000436029;ENST00000467728;ENST00000405853	T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.66	1.22	0.21188	.	0.815641	0.10624	N	0.652953	T	0.25005	0.0607	N	0.14661	0.345	0.28499	N	0.914104	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.08055	0.0;0.0;0.003	T	0.21759	-1.0236	10	0.30078	T	0.28	.	9.8669	0.41150	0.0:0.8063:0.0:0.1937	.	23;17;17	B4DXU5;Q13133;Q13133-2	.;NR1H3_HUMAN;.	V	17	ENSP00000403798:A17V;ENSP00000385801:A17V;ENSP00000391005:A17V;ENSP00000413095:A17V;ENSP00000415591:A17V;ENSP00000387946:A17V;ENSP00000396132:A17V;ENSP00000403696:A17V;ENSP00000420656:A17V;ENSP00000384745:A17V	ENSP00000384745:A17V	A	+	2	0	NR1H3	47237924	0.723000	0.28027	0.131000	0.22000	0.025000	0.11179	1.163000	0.31798	0.341000	0.23771	0.462000	0.41574	GCG		TCGA-FB-A78T-01A-12D-A32N-08	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3	0	0	0	5	334	0	73	0	3.973996e-01	1	78	0	73	2		0	0	0	0	0	2	1	0.937503	5	333	0	73	2		0	0	0	0	73	2	-3.191113	1	1	121406	1	31	1	1	2	3	2.055466	0	0.550000	1.940000	0.552461	0.050000	1.000000e-02	0.130000	0.060000	0.073323	0.050000	0	0.030000	0.090000
ZDHHC5	25921	broad.mit.edu	37	11	57456082	57456082	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:57456082G>A	ENST00000287169.3	+	4	1691	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R57H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5			18					GCCACCTGCCGCTTTTACCGT	0.522000																								0							SO:0001583	missense			ENST00000287169.3	0	1	hg19	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389594	0.25118	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842;ENST00000529447	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.02	4.11	0.48088	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	N	0.01809	-0.71	0.80722	D	1	B	0.26445	0.149	B	0.27076	0.076	T	0.79557	-0.1754	10	0.13470	T	0.59	-5.0695	9.536	0.39222	0.1612:0.0:0.8388:0.0	.	110	Q9C0B5	ZDHC5_HUMAN	H	57;110;8;8;36	ENSP00000432202:R57H;ENSP00000287169:R110H;ENSP00000431209:R8H;ENSP00000435593:R8H;ENSP00000435722:R36H	ENSP00000287169:R110H	R	+	2	0	ZDHHC5	57212658	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	4.362000	0.59467	1.355000	0.45865	0.561000	0.74099	CGC		TCGA-FB-A78T-01A-12D-A32N-08	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	0	0	0	5	303	0	78	0	4.778097e-01	1	86	0	78	2		0	0	0	0	0	2	1	0.938036	5	303	0	78	2		0	0	0	0	78	2	-3.118173	1	1	121412	3	33	1	1	2	3	2.075358	0	0.550000	1.940000	0.554896	0.060000	1.000000e-02	1.000000	0.060000	0.097699	0.060000	0	0.030000	0.100000
MEN1	4221	broad.mit.edu	37	11	64577300	64577300	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:64577300G>A	ENST00000337652.1	-	2	785	c.282C>T	c.(280-282)acC>acT	p.T94T	MEN1_ENST00000443283.1_Silent_p.T94T|MEN1_ENST00000377326.3_Silent_p.T94T|MEN1_ENST00000394376.1_Silent_p.T94T|MEN1_ENST00000315422.4_Silent_p.T94T|MEN1_ENST00000377313.1_Silent_p.T94T|MEN1_ENST00000312049.6_Silent_p.T94T|MEN1_ENST00000377321.1_Silent_p.T94T|MEN1_ENST00000377316.2_Silent_p.T94T|MEN1_ENST00000394374.2_Silent_p.T94T	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	p.A95fs*24(1)		337					GGATCTGGGCGGTGAAGCGGG	0.647000			D, Mis, N, F, S		parathyroid tumors, Pancreatic neuroendocrine tumors	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	1	Deletion - Frameshift(1)						SO:0001819	synonymous_variant	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	ENST00000337652.1	0	1	hg19	CCDS8083.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1	0	0	0	4	155	0	22	0	6.288170e-01	0	76	0	22	2		0	0	0	0	0	2	1	0.888386	4	153	0	21	2		0	0	0	0	22	2	-6.157350	1	1	121386	2	31	1	1	2	3	2.064088	0	0.550000	1.940000	0.552461	0.100000	2.000000e-02	0.250000	0.100000	0.121655	0.100000	0	0.050000	0.160000
NPAS4	266743	broad.mit.edu	37	11	66188745	66188745	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:66188745C>T	ENST00000311034.2	+	1	271	c.95C>T	c.(94-96)gCg>gTg	p.A32V		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4			49					CTGGCCGAAGCGGACAAGGTC	0.647000																								0							SO:0001583	missense			ENST00000311034.2	0	1	hg19	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313768	0.95655	.	.	ENSG00000174576	ENST00000311034	T	0.51071	0.72	5.19	5.19	0.71726	Helix-loop-helix DNA-binding (1);	0.228511	0.31102	N	0.008255	T	0.42314	0.1197	N	0.14661	0.345	0.54753	D	0.99998	D	0.63880	0.993	P	0.53490	0.727	T	0.41016	-0.9532	10	0.62326	D	0.03	-4.3398	11.8591	0.52454	0.0:0.8243:0.1757:0.0	.	32	Q8IUM7	NPAS4_HUMAN	V	32	ENSP00000311196:A32V	ENSP00000311196:A32V	A	+	2	0	NPAS4	65945321	0.998000	0.40836	0.999000	0.59377	0.948000	0.59901	1.746000	0.38288	2.691000	0.91804	0.563000	0.77884	GCG		TCGA-FB-A78T-01A-12D-A32N-08	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	0	0	0	5	170	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	0.937511	5	169	0	59	2		0	0	0	0	59	2	-3.681346	1	1	0	0		1	0	1	1	1.516217	1	0.550000	1.940000	0.379310	0.070000	2.000000e-02	0.160000	0.080000	0.088529	0.070000	0	0.040000	0.120000
ARAP1	116985	broad.mit.edu	37	11	72406856	72406856	+	Silent	SNP	C	C	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:72406856C>G	ENST00000393609.3	-	24	3529	c.3327G>C	c.(3325-3327)gtG>gtC	p.V1109V	ARAP1_ENST00000429686.1_Silent_p.V803V|ARAP1_ENST00000426523.1_Silent_p.V864V|ARAP1_ENST00000334211.8_Silent_p.V864V|ARAP1_ENST00000393605.3_Silent_p.V869V|ARAP1_ENST00000455638.2_Silent_p.V1109V|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Silent_p.V1109V|ARAP1-AS1_ENST00000542022.1_RNA	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1			27					TGGGCCCAAACACAATTGCCA	0.552000													Ovarian(102;1198 1520 13195 17913 37529)											0							SO:0001819	synonymous_variant			ENST00000393609.3	1	1	hg19	CCDS41687.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	1	0	0	9	98	0	40	1	9.994930e-01	14	152	0	40	2		0	0	0	0	0	2	1	0.994649	9	97	0	39	2		0	0	0	0	40	2	-14.376700	1	1	0	0		1	0	1	1	1.507829	1	0.550000	1.940000	0.390863	0.230000	1.100000e-01	0.390000	0.220000	0.242899	0.230000	0	0.160000	0.310000
BRAP	8315	broad.mit.edu	37	12	112103575	112103575	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:112103575A>T	ENST00000327551.6	-	6	814	c.674T>A	c.(673-675)gTg>gAg	p.V225E	BRAP_ENST00000419234.4_Missense_Mutation_p.V255E|BRAP_ENST00000539060.1_Missense_Mutation_p.V76E			Q6UWU4	CF089_HUMAN	BRCA1 associated protein			20					CAGGTCCATCACTGGGAGGCT	0.502000													Pancreas(146;846 1904 7830 25130 26065)											0							SO:0001583	missense			ENST00000327551.6	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	15.64	2.892889	0.52121	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.47177	0.85;0.94;0.86	5.22	5.22	0.72569	BRCA1-associated 2 (1);	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.68483	0.954;0.958	T	0.55153	-0.8185	10	0.07325	T	0.83	-17.4067	15.0833	0.72130	1.0:0.0:0.0:0.0	.	76;255	B4DRM1;Q7Z569	.;BRAP_HUMAN	E	255;76;225;37	ENSP00000403524:V255E;ENSP00000441659:V76E;ENSP00000330813:V225E	ENSP00000330813:V225E	V	-	2	0	BRAP	110587958	1.000000	0.71417	0.990000	0.47175	0.852000	0.48524	8.773000	0.91762	1.967000	0.57214	0.254000	0.18369	GTG		TCGA-FB-A78T-01A-12D-A32N-08	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2	0	0	0	4	271	0	52	0	1.322653e-01	0	34	0	52	2		0	0	0	0	0	2	0	0.002643	1	269	1	51	17		0	0	0	0	52	2	-5.255748	1	0	0	0		1	0	0	0	2.002479	0	0.550000	1.940000	0.544995	0.050000	1.000000e-02	0.130000	0.060000	0.064636	0.050000	0	0.030000	0.090000
P2RX7	5027	broad.mit.edu	37	12	121592733	121592733	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:121592733G>A	ENST00000546057.1	+	2	414	c.271G>A	c.(271-273)Gca>Aca	p.A91T	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.A91T|P2RX7_ENST00000328963.5_5'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7			19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				CTTTGACACCGCAGACTACAC	0.557000																								0							SO:0001583	missense			ENST00000546057.1	0	1	hg19	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377781	0.61735	.	.	ENSG00000089041	ENST00000546057;ENST00000377162	T;T	0.05649	3.41;3.41	5.49	5.49	0.81192	.	0.297398	0.28883	N	0.013825	T	0.27278	0.0669	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00653	-1.1625	10	0.87932	D	0	.	14.8617	0.70387	0.0:0.0:1.0:0.0	.	91	Q99572	P2RX7_HUMAN	T	91	ENSP00000442349:A91T;ENSP00000366367:A91T	ENSP00000261826:A91T	A	+	1	0	P2RX7	120077116	0.941000	0.31946	0.230000	0.23976	0.265000	0.26407	4.960000	0.63673	2.578000	0.87016	0.591000	0.81541	GCA		TCGA-FB-A78T-01A-12D-A32N-08	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	0	0	0	5	403	0	112	0	7.380508e-04	0	3	0	112	2		0	0	0	0	0	2	1	0.935863	5	398	0	112	2		0	0	0	0	112	2	-2.118295	0	1	121412	1	34	1	0	0	0	2.002479	0	0.550000	1.940000	0.544995	0.040000	0	0.100000	0.040000	0.052428	0.040000	0	0.020000	0.070000
KRAS	3845	broad.mit.edu	37	12	25398282	25398282	+	Missense_Mutation	SNP	C	C	A	rs121913535		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:25398282C>A	ENST00000256078.4	-	2	100	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	KRAS_ENST00000556131.1_Missense_Mutation_p.G13C|KRAS_ENST00000557334.1_Missense_Mutation_p.G13C|KRAS_ENST00000311936.3_Missense_Mutation_p.G13C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G13C(213)|p.G13S(59)|p.G13R(43)|p.G12_G13insG(3)|p.G13N(1)|p.G13I(1)|p.G12_G13insA(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)		TTGCCTACGCCACCAGCTCCA	0.343000	G13C(MORCPR_LUNG)|G13C(NCIH1355_LUNG)|G13C(NCIH1734_LUNG)|G13C(TOV21G_OVARY)	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	321	Substitution - Missense(317)|Insertion - In frame(4)						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	0	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686065	0.88639	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.83755	-1.76;-0.81;-0.81;-0.81	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92740	0.7692	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.981;0.997	D	0.93619	0.6946	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	C	13	ENSP00000308495:G13C;ENSP00000452512:G13C;ENSP00000256078:G13C;ENSP00000451856:G13C	ENSP00000256078:G13C	G	-	1	0	KRAS	25289549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC		TCGA-FB-A78T-01A-12D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	14	82	0	20	1	8.740183e-01	7	17	0	20	2	1	1	65	283	0	204	2	1	0.999819	14	81	0	20	2	1	1	2435	5585	0	20	2	-3.366330	1	0	0	0		1	0	0	0	2.002479	0	0.550000	1.940000	0.544995	0.530000	3.100000e-01	0.800000	0.510000	0.545668	0.530000	0	0.410000	0.670000
KRAS	3845	broad.mit.edu	37	12	25398283	25398283	+	Silent	SNP	A	A	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:25398283A>G	ENST00000256078.4	-	2	99	c.36T>C	c.(34-36)ggT>ggC	p.G12G	KRAS_ENST00000556131.1_Silent_p.G12G|KRAS_ENST00000557334.1_Silent_p.G12G|KRAS_ENST00000311936.3_Silent_p.G12G	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12G(9)|p.G12V(5)|p.G12E(3)|p.G12W(3)|p.G12_G13insG(3)|p.G12D(2)|p.G12C(1)|p.G13C(1)|p.G12_G13insA(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)		TGCCTACGCCACCAGCTCCAA	0.348000		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	28	Substitution - Missense(15)|Substitution - coding silent(9)|Insertion - In frame(4)						SO:0001819	synonymous_variant	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	0	0	hg19	CCDS8703.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	14	83	0	20	1	8.560386e-01	7	16	0	20	2	1	1	63	278	0	206	2	1	0.999819	14	82	0	20	2	1	1	2445	5559	0	20	2	-9.747177	1	0	0	0		1	0	0	0	2.002479	0	0.550000	1.940000	0.544995	0.520000	3.000000e-01	0.790000	0.510000	0.540214	0.520000	0	0.400000	0.660000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000311936.3_Missense_Mutation_p.G12A	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	0	0	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	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-FB-A78T-01A-12D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	13	82	0	20	1	8.354283e-01	7	16	0	20	2	1	1	63	276	0	206	2	1	0.999638	13	81	0	20	2	1	1	2428	5548	0	20	2	-9.265699	1	0	0	0		1	0	0	0	2.002479	0	0.550000	1.940000	0.544995	0.490000	2.800000e-01	0.760000	0.490000	0.514521	0.490000	0	0.380000	0.640000
RBMS2	5939	broad.mit.edu	37	12	56956368	56956368	+	Splice_Site	SNP	G	G	A	rs140037879		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:56956368G>A	ENST00000262031.5	+	2	328		c.e2+1		RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000552247.2_Splice_Site|RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000549945.1_Splice_Site	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2			18					TGTGTCAGCCGTAAGTTGGAG	0.488000																								0							SO:0001630	splice_region_variant			ENST00000262031.5	0	1	hg19	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402870	0.83230	0.0	1.16E-4	ENSG00000076067	ENST00000262031;ENST00000552247	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8474	0.85984	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBMS2	55242635	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.989000	0.93506	2.589000	0.87451	0.555000	0.69702	.		TCGA-FB-A78T-01A-12D-A32N-08	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	0	0	0	5	476	1	69	0	5.330597e-04	0	3	1	69	2		0	0	0	0	0	2	0	0.000538	5	467	1	68	22		0	0	0	1	69	2	-2.571941	1	1	121410	1	39	1	0	0	0	2.002479	0	0.550000	1.940000	0.544995	0.030000	0	0.080000	0.040000	0.044356	0.030000	0	0.010000	0.060000
GLI1	2735	broad.mit.edu	37	12	57859598	57859598	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:57859598C>T	ENST00000228682.2	+	7	743	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	GLI1_ENST00000543426.1_Missense_Mutation_p.R90W|GLI1_ENST00000546141.1_Missense_Mutation_p.R177W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1			69			GBM - Glioblastoma multiforme(3;3.99e-32)		GCTGGATGGGCGGGAGGACCT	0.552000													Pancreas(157;841 1936 10503 41495 50368)											0							SO:0001583	missense			ENST00000228682.2	1	1	hg19	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596133	0.66332	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T;T	0.74315	-0.83;2.57;2.49;2.57;2.57	4.45	2.42	0.29668	.	0.000000	0.47093	D	0.000256	T	0.81597	0.4856	L	0.57536	1.79	0.53688	D	0.999972	D	0.89917	1.0	D	0.71414	0.973	D	0.83420	0.0032	10	0.87932	D	0	.	12.4989	0.55944	0.2978:0.7022:0.0:0.0	.	218	P08151	GLI1_HUMAN	W	90;90;218;177;177;90	ENSP00000436671:R90W;ENSP00000437607:R90W;ENSP00000228682:R218W;ENSP00000441006:R177W;ENSP00000434408:R177W	ENSP00000228682:R218W	R	+	1	2	GLI1	56145865	0.984000	0.35163	0.999000	0.59377	0.915000	0.54546	0.836000	0.27545	1.196000	0.43129	0.591000	0.81541	CGG		TCGA-FB-A78T-01A-12D-A32N-08	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	1	0	0	22	459	0	119	0	6.684559e-02	0	9	0	119	2		0	0	0	0	0	2	1	0.999999	22	453	0	118	2		0	0	0	0	119	2	-3.214541	1	1	0	0		1	0	0	0	2.002479	0	0.550000	1.940000	0.544995	0.160000	1.000000e-01	0.240000	0.160000	0.170959	0.160000	0	0.130000	0.200000
TRHDE	29953	broad.mit.edu	37	12	72955964	72955964	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:72955964A>C	ENST00000261180.4	+	8	1769	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme			79					ACCATTCATAAGTATGGTAAT	0.269000																								0							SO:0001583	missense			ENST00000261180.4	1	1	hg19	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.16|15.16	2.751192|2.751192	0.49257|0.49257	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.05258|.	3.47|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.045759|.	0.85682|.	D|.	0.000000|.	T|.	0.75889|.	0.3911|.	M|M	0.75150|0.75150	2.29|2.29	0.47819|0.47819	D|D	0.99952|0.99952	P|.	0.40144|.	0.704|.	B|.	0.30716|.	0.119|.	T|.	0.75941|.	-0.3140|.	10|.	0.33141|.	T|.	0.24|.	.|.	16.4696|16.4696	0.84102|0.84102	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	558|.	Q9UKU6|.	TRHDE_HUMAN|.	T|Y	558|145	ENSP00000261180:K558T|.	ENSP00000261180:K558T|.	K|X	+|+	2|3	0|2	TRHDE|TRHDE	71242231|71242231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.855000|3.855000	0.55957|0.55957	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	AAG|TAA		TCGA-FB-A78T-01A-12D-A32N-08	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	1	0	0	11	162	0	33	0	2.699433e-02	0	4	0	33	2		0	0	0	0	0	2	1	0.998454	11	161	0	33	2		0	0	0	0	33	2	-5.100022	1	1	0	0		1	0	0	0	2.002479	0	0.550000	1.940000	0.544995	0.230000	1.200000e-01	0.380000	0.230000	0.245424	0.230000	0	0.170000	0.310000
NANOG	79923	broad.mit.edu	37	12	7945647	7945647	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:7945647G>A	ENST00000229307.4	+	2	472	c.253G>A	c.(253-255)Gca>Aca	p.A85T	NANOG_ENST00000526286.1_Missense_Mutation_p.A85T	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox			14					GAAGAGTGTCGCAAAAAAGGA	0.478000																								0							SO:0001583	missense			ENST00000229307.4	0	1	hg19	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	0.035	-1.311903	0.01342	.	.	ENSG00000111704	ENST00000541267;ENST00000229307;ENST00000526286	D;D;D	0.91237	-2.81;-2.81;-2.78	4.1	0.704	0.18121	Homeodomain-related (1);	3.012810	0.00789	N	0.001330	T	0.81230	0.4779	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68534	-0.5383	10	0.13108	T	0.6	1.3277	8.8453	0.35166	0.3408:0.0:0.6592:0.0	.	85	Q9H9S0	NANOG_HUMAN	T	61;85;85	ENSP00000444434:A61T;ENSP00000229307:A85T;ENSP00000435288:A85T	ENSP00000229307:A85T	A	+	1	0	NANOG	7836914	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.200000	0.17257	-0.023000	0.13963	-1.749000	0.00680	GCA		TCGA-FB-A78T-01A-12D-A32N-08	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	0	0	0	6	416	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	0.963651	6	410	0	89	2		0	0	0	0	91	2	-2.398895	0	1	121394	1	27	1	0	0	0	2.029173	0	0.550000	1.940000	0.550000	0.050000	1.000000e-02	0.110000	0.060000	0.059922	0.050000	0	0.030000	0.080000
CCDC41	0	broad.mit.edu	37	12	94761622	94761622	+	Missense_Mutation	SNP	G	G	A	rs111647062		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:94761622G>A	ENST00000397809.5	-	11	1840	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W|CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN				27					TGTGAAGCCCGCAATTTCTCT	0.373000																								0							SO:0001583	missense			ENST00000397809.5	0	1	hg19	CCDS41820.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.11	2.438221	0.43326	2.7E-4	2.43E-4	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.53857	1.94;1.94;0.6	5.83	4.94	0.65067	.	.	.	.	.	T	0.56761	0.2007	L	0.56769	1.78	0.36865	D	0.888618	D;D	0.76494	0.999;0.993	P;P	0.50896	0.653;0.534	T	0.67515	-0.5651	9	0.87932	D	0	-8.5225	10.5268	0.44954	0.0683:0.0:0.7969:0.1348	.	398;423	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	W	431;431;398	ENSP00000344655:R431W;ENSP00000380911:R431W;ENSP00000380909:R398W	ENSP00000344655:R431W	R	-	1	2	CCDC41	93285753	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	6.105000	0.71505	1.461000	0.47929	-0.181000	0.13052	CGG		TCGA-FB-A78T-01A-12D-A32N-08	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3	0	0	0	5	542	1	130	0	1.459946e-02	0	16	1	130	2		0	0	0	0	0	2	0	0.017512	6	530	1	128	15		0	0	0	1	130	2	-1.807892	0	1	120824	50	52	1	0	0	0	2.002479	0	0.550000	1.940000	0.544995	0.030000	0	0.070000	0.040000	0.038814	0.030000	0	0.010000	0.060000
ZIC2	7546	broad.mit.edu	37	13	100635062	100635062	+	Silent	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:100635062G>C	ENST00000376335.3	+	1	1037	c.744G>C	c.(742-744)cgG>cgC	p.R248R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2			13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				GCTATATGCGGCAGCAGTGCA	0.562000													Pancreas(97;119 1522 31925 44771 48764)											0							SO:0001819	synonymous_variant			ENST00000376335.3	1	1	hg19	CCDS9495.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	0	0	0	13	492	0	111	0	1.120056e-02	0	6	0	111	2		0	0	0	0	0	2	1	0.999499	13	485	0	111	2		0	0	0	0	111	2	-3.404393	1	1	0	0		1	0	2	2	2.040892	1	0.550000	1.940000	0.550000	0.090000	4.000000e-02	0.150000	0.100000	0.100233	0.090000	0	0.060000	0.130000
LNX2	222484	broad.mit.edu	37	13	28136823	28136823	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:28136823C>G	ENST00000316334.3	-	5	1080	c.951G>C	c.(949-951)gaG>gaC	p.E317D		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2			31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)		CAAAGCGCCTCTCTCGAAGCA	0.488000																								0							SO:0001583	missense			ENST00000316334.3	1	1	hg19	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922741	0.92319	.	.	ENSG00000139517	ENST00000316334	T	0.27890	1.64	5.88	5.04	0.67666	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.39245	1.2	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.16070	-1.0415	10	0.32370	T	0.25	.	14.8997	0.70670	0.0:0.9315:0.0:0.0685	.	317	Q8N448	LNX2_HUMAN	D	317	ENSP00000325929:E317D	ENSP00000325929:E317D	E	-	3	2	LNX2	27034823	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	3.788000	0.55446	1.480000	0.48289	0.655000	0.94253	GAG		TCGA-FB-A78T-01A-12D-A32N-08	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2	1	0	1	76	277	0	66	1	9.634700e-01	6	16	0	66	2		0	0	0	0	0	2	1	1.000000	75	276	0	66	2		0	0	0	0	66	2	-20.000000	1	1	0	0		1	0	2	2	2.040892	1	0.550000	1.940000	0.550000	0.770000	6.300000e-01	0.940000	0.780000	0.786753	0.770000	0	0.700000	0.860000
TMEM30B	161291	broad.mit.edu	37	14	61746986	61746986	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:61746986G>A	ENST00000555868.1	-	1	1572	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	TMEM30B_ENST00000355702.2_Missense_Mutation_p.R294C|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	p.V293fs*>57(1)		6					CCGAACGCGCGCACCGGGTAG	0.657000																								1	Deletion - Frameshift(1)						SO:0001583	missense			ENST00000555868.1	0	1	hg19	CCDS32093.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030021	0.75504	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	4.67	3.77	0.43336	.	0.167016	0.39759	N	0.001265	T	0.60907	0.2305	M	0.79926	2.475	0.40875	D	0.983942	D	0.54397	0.966	B	0.44224	0.444	T	0.68123	-0.5492	9	0.52906	T	0.07	-30.0625	12.0352	0.53420	0.0:0.0:0.8264:0.1735	.	294	Q3MIR4	CC50B_HUMAN	C	294	.	ENSP00000347930:R294C	R	-	1	0	TMEM30B	60816739	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	2.801000	0.47908	1.163000	0.42636	0.650000	0.86243	CGC		TCGA-FB-A78T-01A-12D-A32N-08	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	0	0	0	4	162	0	46	1	7.472071e-01	2	103	0	46	2		0	0	0	0	0	2	1	0.889923	4	161	0	46	2		0	0	0	0	46	2	-6.138692	1	1	0	0		1	1	2	3	2.049610	0	0.550000	1.940000	0.551234	0.090000	2.000000e-02	0.220000	0.090000	0.107985	0.090000	0	0.050000	0.150000
APBA2	321	broad.mit.edu	37	15	29397624	29397624	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:29397624G>T	ENST00000558402.1	+	12	2166	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	APBA2_ENST00000411764.1_Missense_Mutation_p.A511S|APBA2_ENST00000558259.1_Missense_Mutation_p.A523S|APBA2_ENST00000558330.1_Missense_Mutation_p.A511S|APBA2_ENST00000561069.1_Missense_Mutation_p.A523S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2			59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)			CTTCAGCGTGGCCTACCAGGA	0.612000																								0							SO:0001583	missense			ENST00000558402.1	1	1	hg19	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292777	0.80914	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.22336	1.96	4.32	3.4	0.38934	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.211286	0.40385	N	0.001111	T	0.50017	0.1591	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	0.985;0.999;1.0	P;D;D	0.91635	0.865;0.993;0.999	T	0.59343	-0.7472	10	0.72032	D	0.01	.	13.037	0.58877	0.0:0.0:0.8378:0.1622	.	511;511;523	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	S	511;523	ENSP00000409312:A511S	ENSP00000219865:A523S	A	+	1	0	APBA2	27184916	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.352000	0.97076	1.130000	0.42092	-0.310000	0.09108	GCC		TCGA-FB-A78T-01A-12D-A32N-08	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	1	0	1	54	109	0	48	0	9.828461e-01	0	16	0	48	2		0	0	0	0	0	2	1	1.000000	54	109	0	48	2		0	0	0	0	48	2	-20.000000	1	1	0	0		1	1	2	3	2.081375	0	0.550000	1.940000	0.556104	0.990000	9.600000e-01	1.000000	1.000000	0.997810	0.990000	1	0.990000	1.000000
LMAN1L	79748	broad.mit.edu	37	15	75109005	75109005	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:75109005C>T	ENST00000309664.5	+	4	610	c.471C>T	c.(469-471)gaC>gaT	p.D157D	LMAN1L_ENST00000379709.3_Silent_p.D157D	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like			19					TGGCCAGCGACGGGCACATCC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000309664.5	1	1	hg19	CCDS10270.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4	1	0	1	52	182	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1.000000	50	180	0	76	2		0	0	0	0	76	2	-20.000000	1	1	121412	2	29	1	1	2	3	2.052737	0	0.550000	1.940000	0.551234	0.800000	6.200000e-01	1.000000	0.810000	0.814487	0.800000	0	0.710000	0.910000
ADAMTS7	11173	broad.mit.edu	37	15	79051843	79051843	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:79051843G>A	ENST00000388820.4	-	24	5191	c.4981C>T	c.(4981-4983)Cgc>Tgc	p.R1661C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7			54					CACTGGGTGCGGATGGTGGGC	0.726000																								0							SO:0001583	missense			ENST00000388820.4	0	1	hg19	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.107509	0.37145	.	.	ENSG00000136378	ENST00000388820	T	0.62105	0.05	2.92	1.86	0.25419	PLAC (1);	0.082330	0.49305	U	0.000156	T	0.74898	0.3777	M	0.75264	2.295	0.46678	D	0.99915	D	0.89917	1.0	D	0.83275	0.996	T	0.77661	-0.2504	10	0.87932	D	0	.	10.268	0.43466	0.0:0.0:0.8027:0.1973	.	1661	Q9UKP4	ATS7_HUMAN	C	1661	ENSP00000373472:R1661C	ENSP00000373472:R1661C	R	-	1	0	ADAMTS7	76838898	0.960000	0.32886	0.217000	0.23759	0.006000	0.05464	3.130000	0.50508	1.639000	0.50556	0.282000	0.19409	CGC		TCGA-FB-A78T-01A-12D-A32N-08	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	0	0	0	13	76	0	29	0	8.441452e-01	0	22	0	29	2		0	0	0	0	0	2	1	0.999618	12	75	0	29	2		0	0	0	0	29	2	-19.996920	1	0	0	0		1	1	2	3	2.052737	0	0.550000	1.940000	0.551234	0.540000	3.100000e-01	0.850000	0.530000	0.555781	0.540000	0	0.410000	0.690000
SETD1A	9739	broad.mit.edu	37	16	30976932	30976932	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:30976932G>C	ENST00000262519.8	+	8	2416	c.1730G>C	c.(1729-1731)tGc>tCc	p.C577S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A			59					GCTTCTCCATGCTCTTCTGGA	0.657000																								0							SO:0001583	missense			ENST00000262519.8	0	1	hg19	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	5.311	0.242720	0.10077	.	.	ENSG00000099381	ENST00000262519	D	0.93189	-3.18	4.41	3.37	0.38596	.	0.764642	0.12331	N	0.478349	T	0.81182	0.4769	N	0.08118	0	0.24087	N	0.995927	B	0.19935	0.04	B	0.14023	0.01	T	0.68273	-0.5452	10	0.08837	T	0.75	.	5.2236	0.15381	0.2079:0.0:0.7921:0.0	.	577	O15047	SET1A_HUMAN	S	577	ENSP00000262519:C577S	ENSP00000262519:C577S	C	+	2	0	SETD1A	30884433	0.979000	0.34478	0.999000	0.59377	0.934000	0.57294	1.378000	0.34328	2.269000	0.75478	0.561000	0.74099	TGC		TCGA-FB-A78T-01A-12D-A32N-08	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	0	0	0	4	262	0	62	0	3.942212e-02	0	16	0	62	2		0	0	0	0	0	2	0	0.882801	0	257	0	59	2		0	0	0	0	62	2	-5.182952	1	0	0	0		1	1	2	3	2.066930	0	0.550000	1.940000	0.552461	0.050000	1.000000e-02	0.150000	0.060000	0.077059	0.050000	0	0.030000	0.100000
SLC5A2	6524	broad.mit.edu	37	16	31500513	31500513	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:31500513G>C	ENST00000330498.3	+	12	1538	c.1519G>C	c.(1519-1521)Ggc>Cgc	p.G507R	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2			25				Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GTTCTCCTTCGGCTCGGGCAG	0.637000																								0							SO:0001583	missense			ENST00000330498.3	1	1	hg19	CCDS10714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.81|18.81	3.702935|3.702935	0.68501|0.68501	.|.	.|.	ENSG00000140675|ENSG00000140675	ENST00000330498|ENST00000419665	D|D	0.86769|0.86366	-2.17|-2.11	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90950|0.90950	0.7155|0.7155	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91742|0.91742	0.5405|0.5405	10|7	0.11794|0.66056	T|D	0.64|0.02	.|.	15.362|15.362	0.74483|0.74483	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	507|.	P31639|.	SC5A2_HUMAN|.	R|P	507|400	ENSP00000327943:G507R|ENSP00000410601:R400P	ENSP00000327943:G507R|ENSP00000410601:R400P	G|R	+|+	1|2	0|0	SLC5A2|SLC5A2	31408014|31408014	1.000000|1.000000	0.71417|0.71417	0.587000|0.587000	0.28692|0.28692	0.658000|0.658000	0.38924|0.38924	3.548000|3.548000	0.53670|0.53670	2.491000|2.491000	0.84063|0.84063	0.561000|0.561000	0.74099|0.74099	GGC|CGG		TCGA-FB-A78T-01A-12D-A32N-08	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2	1	0	1	102	246	0	93	1	4.594686e-01	2	3	0	93	2		0	0	0	0	0	2	1	1.000000	102	237	0	91	2		0	0	0	0	93	2	-20.000000	1	1	0	0		1	1	2	3	2.066930	0	0.550000	1.940000	0.552461	0.990000	8.900000e-01	1.000000	1.000000	0.990202	0.990000	1	0.980000	1.000000
ZFHX3	463	broad.mit.edu	37	16	72828136	72828136	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:72828136G>T	ENST00000268489.5	-	9	9117	c.8445C>A	c.(8443-8445)agC>agA	p.S2815R	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1901R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			ACATGGAGGGGCTTTCAAAGT	0.463000																								0							SO:0001583	missense			ENST00000268489.5	0	1	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	6.983	0.551346	0.13374	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74421	-0.84;-0.81	5.96	3.78	0.43462	.	0.000000	0.64402	D	0.000013	T	0.76926	0.4056	L	0.44542	1.39	0.51482	D	0.999926	D	0.76494	0.999	D	0.80764	0.994	T	0.73506	-0.3961	10	0.30854	T	0.27	.	6.6486	0.22949	0.365:0.0:0.635:0.0	.	2815	Q15911	ZFHX3_HUMAN	R	2815;1901	ENSP00000268489:S2815R;ENSP00000438926:S1901R	ENSP00000268489:S2815R	S	-	3	2	ZFHX3	71385637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.411000	0.34702	1.459000	0.47892	0.650000	0.86243	AGC		TCGA-FB-A78T-01A-12D-A32N-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	0	0	7	413	0	101	0	7.829677e-03	0	7	0	101	2		0	0	0	0	0	2	1	0.980470	7	411	0	100	2		0	0	0	0	101	2	-3.045602	1	1	0	0		1	1	2	3	2.110861	0	0.550000	1.940000	0.558499	0.060000	2.000000e-02	1.000000	0.060000	0.121997	0.060000	0	0.040000	0.100000
ZFHX3	463	broad.mit.edu	37	16	72992317	72992317	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:72992317G>A	ENST00000268489.5	-	2	2400	c.1728C>T	c.(1726-1728)ggC>ggT	p.G576G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			TGGCCCTGACGCCCTCACTGT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000268489.5	1	1	hg19	CCDS10908.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	0	1	96	284	1	76	1	2.688855e-01	2	2	1	76	2		0	0	0	0	1	2	1	1.000000	95	279	1	76	17		0	0	0	1	76	2	-20.000000	1	1	121412	5	39	1	1	2	3	2.110861	0	0.550000	1.940000	0.558499	0.930000	7.700000e-01	1.000000	1.000000	0.931769	0.930000	1	0.850000	1.000000
SRR	63826	broad.mit.edu	37	17	2224891	2224891	+	Missense_Mutation	SNP	G	G	C	rs141694122		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:2224891G>C	ENST00000344595.5	+	6	893	c.575G>C	c.(574-576)gGa>gCa	p.G192A	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase			8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		L-Serine(DB00133)	ATGCTTGCTGGAATAGCAATT	0.403000																								0							SO:0001583	missense			ENST00000344595.5	1	1	hg19	CCDS11017.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.8	4.460526	0.84317	0.0	2.33E-4	ENSG00000167720	ENST00000344595	D	0.98419	-4.92	5.95	5.95	0.96441	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.98740	1.0716	10	0.87932	D	0	3.4694	19.4464	0.94849	0.0:0.0:1.0:0.0	.	192	Q9GZT4	SRR_HUMAN	A	192	ENSP00000339435:G192A	ENSP00000339435:G192A	G	+	2	0	SRR	2171641	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.265000	0.72534	2.836000	0.97738	0.650000	0.86243	GGA		TCGA-FB-A78T-01A-12D-A32N-08	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	1	0	0	18	235	0	62	0	4.146225e-01	0	19	0	62	2		0	0	0	0	0	2	1	0.999983	17	233	0	62	2		0	0	0	0	62	2	-6.564403	1	1	121408	7	41	1	0	1	1	1.564152	1	0.550000	1.940000	0.390863	0.190000	1.100000e-01	0.290000	0.190000	0.198934	0.190000	0	0.150000	0.240000
UNC45B	146862	broad.mit.edu	37	17	33501285	33501285	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:33501285C>T	ENST00000268876.5	+	14	1958	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	UNC45B_ENST00000591048.1_Missense_Mutation_p.R540W|UNC45B_ENST00000433649.1_Missense_Mutation_p.R619W|UNC45B_ENST00000378449.1_Missense_Mutation_p.R540W|UNC45B_ENST00000394570.2_Missense_Mutation_p.R619W	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)			59		Ovarian(249;0.17)			TATAGACATGCGGGTGAAGCG	0.547000																								0							SO:0001583	missense			ENST00000268876.5	0	1	hg19	CCDS11292.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	16.11	3.031224	0.54790	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.70045	-0.45;-0.45;-0.45	5.03	2.91	0.33838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	M	0.88906	2.99	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	D	0.86536	0.1825	10	0.87932	D	0	-28.04	13.2095	0.59817	0.2876:0.7124:0.0:0.0	.	540;619;621	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	W	621;621;619;540	ENSP00000268876:R621W;ENSP00000412840:R619W;ENSP00000367710:R540W	ENSP00000268876:R621W	R	+	1	2	UNC45B	30525398	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.897000	0.56273	1.316000	0.45131	0.591000	0.81541	CGG		TCGA-FB-A78T-01A-12D-A32N-08	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	0	0	0	6	694	1	154		0	0	0	1	154	2		0	0	0	0	0	2	0	0.022453	6	680	1	153	16		0	0	0	1	154	2	-1.798791	0	1	121412	5	40	1	1	2	3	2.104250	0	0.550000	1.940000	0.558499	0.030000	0	1.000000	0.040000	0.089972	0.030000	0	0.010000	0.060000
HSPB9	94086	broad.mit.edu	37	17	40275109	40275109	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:40275109G>A	ENST00000355067.3	+	1	354	c.241G>A	c.(241-243)Gga>Aga	p.G81R	CTD-2132N18.3_ENST00000592574.1_Intron|KAT2A_ENST00000225916.5_5'Flank	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9			4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)			GATGGTGACCGGACAGCAGCA	0.597000																								0							SO:0001583	missense			ENST00000355067.3	0	1	hg19	CCDS11418.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174878	0.57692	.	.	ENSG00000197723	ENST00000355067	D	0.95622	-3.76	3.68	-0.645	0.11475	Heat shock protein Hsp20 (2);	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	M	0.84511	2.7	0.31280	N	0.690707	P	0.43352	0.804	B	0.37144	0.242	D	0.89203	0.3559	10	0.87932	D	0	-18.9973	4.7991	0.13287	0.2826:0.1571:0.5603:0.0	.	81	Q9BQS6	HSPB9_HUMAN	R	81	ENSP00000347178:G81R	ENSP00000347178:G81R	G	+	1	0	HSPB9	37528635	0.976000	0.34144	0.716000	0.30569	0.009000	0.06853	2.377000	0.44300	-0.047000	0.13423	-1.157000	0.01802	GGA		TCGA-FB-A78T-01A-12D-A32N-08	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257438.1	0	0	0	6	535	0	127	0	5.624745e-04	0	3	0	127	2		0	0	0	0	0	2	1	0.964126	6	530	0	125	2		0	0	0	0	127	2	-2.426670	0	1	0	0		1	1	2	3	2.104250	0	0.550000	1.940000	0.558499	0.040000	0	1.000000	0.040000	0.100709	0.040000	0	0.020000	0.070000
NUP88	4927	broad.mit.edu	37	17	5322895	5322895	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:5322895G>A	ENST00000573584.1	-	1	585	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000536255.2_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa			15					TCCCGGAGCCGCAAGAACACG	0.632000																								0							SO:0001583	missense			ENST00000573584.1	0	1	hg19	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020434	0.75275	.	.	ENSG00000108559	ENST00000225696	.	.	.	5.19	4.22	0.49857	.	0.284904	0.36482	N	0.002578	T	0.69351	0.3101	L	0.51422	1.61	0.45914	D	0.998751	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.72527	-0.4266	9	0.72032	D	0.01	-5.8985	13.2216	0.59892	0.0:0.0:0.8397:0.1603	.	26;26	B7Z5I6;Q99567	.;NUP88_HUMAN	W	26	.	ENSP00000225696:R26W	R	-	1	2	NUP88	5263619	0.557000	0.26546	0.958000	0.39756	0.439000	0.31926	1.231000	0.32624	1.548000	0.49413	0.655000	0.94253	CGG		TCGA-FB-A78T-01A-12D-A32N-08	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	0	0	0	5	351	0	127	0	4.369938e-02	0	19	0	127	2		0	0	0	0	0	2	1	0.935139	5	345	0	127	2		0	0	0	0	127	2	-2.068661	0	1	121412	1	36	1	0	1	1	1.549237	1	0.550000	1.940000	0.390863	0.030000	1.000000e-02	0.080000	0.040000	0.044823	0.030000	0	0.020000	0.060000
TRIM37	4591	broad.mit.edu	37	17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:57093004G>A	ENST00000262294.7	-	21	2802	c.2543C>T	c.(2542-2544)gCg>gTg	p.A848V	TRIM37_ENST00000376149.3_Missense_Mutation_p.A726V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	p.A848V(1)		37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)				TTTCTCAACCGCAGGCAAGCC	0.398000									Mulibrey Nanism															1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	Perheentupa syndrome	ENST00000262294.7	0	1	hg19	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661961	0.29515	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.93	2.9	0.33743	.	0.843050	0.10578	N	0.658234	T	0.21267	0.0512	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.17531	-1.0366	10	0.48119	T	0.1	-0.0368	9.163	0.37035	0.1801:0.0:0.8199:0.0	.	814;726;848	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	V	848;848;726;814	ENSP00000376785:A848V;ENSP00000262294:A848V;ENSP00000365319:A726V;ENSP00000376784:A814V	ENSP00000262294:A848V	A	-	2	0	TRIM37	54447786	0.197000	0.23362	0.437000	0.26809	0.721000	0.41392	1.507000	0.35758	1.082000	0.41137	0.313000	0.20887	GCG		TCGA-FB-A78T-01A-12D-A32N-08	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	0	0	0	5	708	0	169	0	5.728428e-02	0	44	0	169	2		0	0	0	0	0	2	1	0.934666	4	696	0	165	2		0	0	0	0	169	2	-1.930905	0	1	121412	7	43	1	1	2	3	2.090902	0	0.550000	1.940000	0.557304	0.020000	0	1.000000	0.020000	0.075691	0.020000	0	0.010000	0.050000
FOXJ1	2302	broad.mit.edu	37	17	74136135	74136135	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:74136135G>A	ENST00000322957.6	-	2	696	c.342C>T	c.(340-342)taC>taT	p.Y114Y	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000586627.1_RNA|RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1			4			LUSC - Lung squamous cell carcinoma(166;0.187)		GATTGGTGGCGTAGTCCACGT	0.692000																								0							SO:0001819	synonymous_variant			ENST00000322957.6	1	1	hg19	CCDS32739.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	1	0	0	59	160	0	50	0	7.393043e-02	1	1	0	50	2		0	0	0	0	0	2	1	1.000000	59	157	0	50	2		0	0	0	0	50	2	-20.000000	1	0	121256	1	28	1	1	2	3	2.090902	0	0.550000	1.940000	0.557304	0.990000	7.800000e-01	1.000000	1.000000	0.958046	0.990000	1	0.880000	1.000000
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	rs11540652		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:7577538C>A	ENST00000269305.4	-	7	932	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000420246.2_Missense_Mutation_p.R248L|TP53_ENST00000359597.4_Missense_Mutation_p.R248L|TP53_ENST00000413465.2_Missense_Mutation_p.R248L	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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	GRCh37	CM920675	TP53	M	rs11540652	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	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488044	0.84854	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.62	3.65	0.41850	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	0.99862	0.9935	M	0.92507	3.315	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.996;0.999;0.996;0.996;0.997	D	0.96931	0.9681	10	0.87932	D	0	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	L	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248L;ENSP00000352610:R248L;ENSP00000269305:R248L;ENSP00000398846:R248L;ENSP00000391127:R248L;ENSP00000391478:R248L;ENSP00000425104:R116L;ENSP00000423862:R155L	ENSP00000269305:R248L	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		TCGA-FB-A78T-01A-12D-A32N-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	68	162	0	74	1	1	40	31	0	74	2	1	1	208	425	0	462	2	1	1.000000	67	158	0	74	2		0	0	0	0	74	2	-6.215367	1	0	0	0		1	0	1	1	1.549237	1	0.550000	1.940000	0.390863	0.780000	6.300000e-01	0.940000	0.790000	0.793180	0.780000	0	0.700000	0.870000
TNRC6C	57690	broad.mit.edu	37	17	76046827	76046827	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:76046827G>A	ENST00000588061.1	+	5	2411	c.1684G>A	c.(1684-1686)Gca>Aca	p.A562T	TNRC6C_ENST00000335749.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C			40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		GAGTGGGGCCGCAAATCAGGA	0.582000																								0							SO:0001583	missense			ENST00000588061.1	0	1	hg19	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	6.103	0.387346	0.11581	0.0	1.19E-4	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14516	2.5;2.51;2.51;2.5	5.75	3.79	0.43588	.	0.922167	0.09205	N	0.834117	T	0.10680	0.0261	L	0.29908	0.895	0.26878	N	0.9676	B;B;B	0.13145	0.005;0.007;0.004	B;B;B	0.08055	0.002;0.003;0.001	T	0.38286	-0.9668	10	0.13108	T	0.6	0.8073	10.4778	0.44676	0.2076:0.0:0.7924:0.0	.	562;562;562	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	T	562	ENSP00000336783:A562T;ENSP00000301624:A562T;ENSP00000440310:A562T;ENSP00000442421:A562T	ENSP00000301624:A562T	A	+	1	0	TNRC6C	73558422	0.864000	0.29904	0.557000	0.28306	0.995000	0.86356	3.175000	0.50855	0.800000	0.34041	0.655000	0.94253	GCA		TCGA-FB-A78T-01A-12D-A32N-08	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	0	0	0	5	429	0	89	0	4.317370e-03	0	7	0	89	2		0	0	0	0	0	2	1	0.935970	5	425	0	87	2		0	0	0	0	89	2	-1.995788	0	1	120932	32	47	1	1	2	3	2.090902	0	0.550000	1.940000	0.557304	0.040000	0	1.000000	0.040000	0.095194	0.040000	0	0.020000	0.080000
SMAD4	4089	broad.mit.edu	37	18	48604736	48604736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr18:48604736G>T	ENST00000342988.3	+	12	2096	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)|p.E520*(1)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			GAGCATCAAAGAAACACCTTG	0.488000																								39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000342988.3	0	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	42	9.212720	0.99101	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.08	5.21	0.72293	.	0.097880	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5385	0.67979	0.0714:0.0:0.9286:0.0	.	.	.	.	X	520	.	ENSP00000341551:E520X	E	+	1	0	SMAD4	46858734	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	7.414000	0.80117	1.582000	0.49881	0.655000	0.94253	GAA		TCGA-FB-A78T-01A-12D-A32N-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	126	211	0	96	1	1	52	47	0	96	2	1	1	187	318	0	404	2	1	1.000000	126	207	0	95	2		0	0	0	0	96	2	-20.000000	1	1	0	0		1	0	1	1	1.507173	1	0.550000	1.940000	0.381656	0.950000	8.300000e-01	1.000000	1.000000	0.946942	0.950000	1	0.890000	0.990000
ABHD8	79575	broad.mit.edu	37	19	17412239	17412239	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:17412239C>T	ENST00000247706.3	-	2	426	c.187G>A	c.(187-189)Gca>Aca	p.A63T	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8			9					TCCGAGGATGCGGATGATGGT	0.667000													Ovarian(156;1368 2543 15275 41187)											0							SO:0001583	missense			ENST00000247706.3	0	1	hg19	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.395488	0.01175	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.31769	1.48	1.59	-3.18	0.05186	.	0.496656	0.14259	U	0.330929	T	0.10078	0.0247	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	10	0.34782	T	0.22	.	4.2714	0.10789	0.0:0.3731:0.4229:0.204	.	63	Q96I13	ABHD8_HUMAN	T	63;9	ENSP00000247706:A63T	ENSP00000247706:A63T	A	-	1	0	ABHD8	17273239	0.730000	0.28100	0.000000	0.03702	0.023000	0.10783	0.878000	0.28126	-0.771000	0.04608	-0.339000	0.08088	GCA		TCGA-FB-A78T-01A-12D-A32N-08	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	0	0	0	4	212	1	58	0	1.455949e-02	0	20	1	58	3		0	0	0	0	0	2	0	0.018003	4	204	1	56	13		0	0	0	1	58	2	-5.154503	1	0	121142	2	37	1	1	2	3	2.102795	0	0.550000	1.940000	0.558499	0.070000	2.000000e-02	1.000000	0.070000	0.135691	0.070000	0	0.040000	0.130000
KIAA0355	9710	broad.mit.edu	37	19	34832943	34832943	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:34832943G>T	ENST00000299505.6	+	10	2977	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355			41	Esophageal squamous(110;0.162)				TCCACCACGGGCACCCCAGGC	0.612000																								0							SO:0001583	missense			ENST00000299505.6	1	1	hg19	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742098	0.30865	.	.	ENSG00000166398	ENST00000299505	T	0.20463	2.07	5.21	3.03	0.35002	.	0.227351	0.35262	N	0.003338	T	0.12689	0.0308	N	0.08118	0	0.21416	N	0.999696	B	0.11235	0.004	B	0.16289	0.015	T	0.26189	-1.0110	10	0.87932	D	0	-24.5999	15.1737	0.72894	0.0:0.7283:0.2717:0.0	.	702	O15063	K0355_HUMAN	S	702	ENSP00000299505:A702S	ENSP00000299505:A702S	A	+	1	0	KIAA0355	39524783	0.134000	0.22483	0.405000	0.26409	0.928000	0.56348	0.848000	0.27710	0.697000	0.31718	-0.147000	0.13772	GCA		TCGA-FB-A78T-01A-12D-A32N-08	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	1	0	1	76	304	0	116	1	9.951010e-01	3	32	0	116	2		0	0	0	0	0	2	1	1.000000	76	302	0	115	2		0	0	0	0	116	2	-20.000000	1	1	121406	1	28	1	0	0	0	2.033974	0	0.550000	1.940000	0.550000	0.720000	5.800000e-01	0.870000	0.720000	0.731396	0.720000	0	0.650000	0.800000
ZNF585A	199704	broad.mit.edu	37	19	37643141	37643141	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:37643141C>T	ENST00000356958.4	-	5	1918	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E499K|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E499K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	p.E499K(1)		42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TTCCCACATTCGTGGCATTCA	0.403000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000356958.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.73	2.624049	0.46840	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.07327	3.2;3.2;3.2	2.87	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.198022	0.24828	N	0.035278	T	0.19886	0.0478	.	.	.	0.09310	N	1	D	0.57571	0.98	P	0.58130	0.833	T	0.01729	-1.1286	9	0.62326	D	0.03	.	12.9943	0.58638	0.0:1.0:0.0:0.0	.	554	Q6P3V2	Z585A_HUMAN	K	554;499;499	ENSP00000349440:E554K;ENSP00000292841:E499K;ENSP00000375998:E499K	ENSP00000292841:E499K	E	-	1	0	ZNF585A	42334981	0.000000	0.05858	0.499000	0.27577	0.833000	0.47200	0.153000	0.16323	1.621000	0.50320	0.650000	0.86243	GAA		TCGA-FB-A78T-01A-12D-A32N-08	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	1	0	0	84	245	0	74	0	0	0	1	0	74	2		0	0	0	0	0	2	1	1.000000	79	244	0	126	2		0	0	0	0	74	2	-5.501252	1	1	121412	2	31	1	0	0	0	2.033974	0	0.550000	1.940000	0.550000	0.920000	7.600000e-01	1.000000	1.000000	0.920319	0.920000	1	0.830000	1.000000
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MRPS12_ENST00000308018.4_5'UTR|MRPS12_ENST00000402029.3_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000594171.1_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial			15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		GCCCTCGCGCGCATACTCGTA	0.627000											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000221431.6	0	1	hg19	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		TCGA-FB-A78T-01A-12D-A32N-08	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	0	0	0	7	671	0	174	0	6.752113e-02	0	35	0	174	2		0	0	0	0	0	2	1	0.980155	7	666	0	172	2		0	0	0	0	174	2	-1.741491	0	1	121412	2	37	1	0	0	0	2.033974	0	0.550000	1.940000	0.550000	0.030000	0	0.080000	0.040000	0.042681	0.030000	0	0.020000	0.060000
ZNF546	339327	broad.mit.edu	37	19	40520557	40520557	+	Silent	SNP	T	T	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:40520557T>C	ENST00000347077.4	+	7	1596	c.1380T>C	c.(1378-1380)caT>caC	p.H460H	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.H434H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546			34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)				CTCGGCATCATAGAACTCATA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000347077.4	1	0	hg19	CCDS12548.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	0	0	1	96	254	1	70	0	5.243608e-01	1	5	1	70	2		0	0	0	0	0	2	1	1.000000	96	252	0	70	2		0	0	0	1	70	2	-6.665620	1	1	0	0		1	0	0	0	2.033974	0	0.550000	1.940000	0.550000	0.990000	8.200000e-01	1.000000	1.000000	0.965306	0.990000	1	0.900000	1.000000
PLIN4	729359	broad.mit.edu	37	19	4511842	4511842	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:4511842G>A	ENST00000301286.3	-	3	2087	c.2088C>T	c.(2086-2088)gtC>gtT	p.V696V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4			41					TCCCTTTGGCGACATTCACTG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000301286.3	1	1	hg19	CCDS45927.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	0	0	0	236	1656	1	493	0	7.889491e-02	0	4	1	493	2		0	0	0	0	0	2	1	1.000000	230	1493	1	488	14		0	0	0	1	493	2	-2.920853	1	1	121194	11	43	1	1	2	3	2.102795	0	0.550000	1.940000	0.558499	0.460000	4.000000e-01	1.000000	0.460000	0.493496	0.460000	0	0.430000	0.500000
GYS1	2997	broad.mit.edu	37	19	49485993	49485993	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:49485993G>A	ENST00000323798.3	-	6	1121	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	GYS1_ENST00000540532.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)			22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)			AAATGGCCCCGCACAAACTCC	0.542000																								0							SO:0001583	missense			ENST00000323798.3	0	1	hg19	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728447	0.69074	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188	T;T;T	0.73363	-0.74;-0.74;-0.74	4.98	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.95;0.967	D	0.89154	0.3525	10	0.87932	D	0	-25.235	11.3306	0.49473	0.0:0.0:0.7259:0.2741	.	229;245;309	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	W	309;245;229	ENSP00000317904:R309W;ENSP00000263276:R245W;ENSP00000437922:R229W	ENSP00000263276:R245W	R	-	1	2	GYS1	54177805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.141000	0.58038	2.491000	0.84063	0.561000	0.74099	CGG		TCGA-FB-A78T-01A-12D-A32N-08	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	0	0	0	5	624	0	141	0	9.941693e-02	0	54	0	141	2		0	0	0	0	0	2	1	0.935909	5	617	0	138	2		0	0	0	0	141	2	-1.969395	0	1	121412	1	36	1	1	2	3	2.110002	0	0.550000	1.940000	0.558499	0.020000	0	1.000000	0.030000	0.088283	0.020000	0	0.010000	0.060000
MYBPC2	4606	broad.mit.edu	37	19	50963351	50963351	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:50963351C>T	ENST00000357701.5	+	24	2897	c.2846C>T	c.(2845-2847)gCg>gTg	p.A949V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type			1		all_neural(266;0.057)			GGCACGAACGCGCTGGTGGAG	0.537000																								0							SO:0001583	missense			ENST00000357701.5	0	1	hg19	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	c	6.279	0.419576	0.11928	0.0	1.21E-4	ENSG00000086967	ENST00000357701	T	0.54279	0.58	3.51	3.51	0.40186	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.191988	0.22737	U	0.056252	T	0.25717	0.0626	N	0.03084	-0.415	0.38226	D	0.940895	B	0.18610	0.029	B	0.19148	0.024	T	0.23013	-1.0200	10	0.02654	T	1	.	14.6643	0.68896	0.0:1.0:0.0:0.0	.	949	Q14324	MYPC2_HUMAN	V	949	ENSP00000350332:A949V	ENSP00000350332:A949V	A	+	2	0	MYBPC2	55655163	0.263000	0.24083	0.991000	0.47740	0.978000	0.69477	0.788000	0.26872	1.894000	0.54839	0.450000	0.29827	GCG		TCGA-FB-A78T-01A-12D-A32N-08	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	1	0	1	6	30	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	0.928474	5	22	0	6	2		0	0	0	0	9	2	-13.425340	1	0	120130	6	35	1	1	2	3	2.106774	0	0.550000	1.940000	0.558499	0.660000	2.800000e-01	1.000000	1.000000	0.676695	0.660000	0	0.440000	0.950000
HAS1	3036	broad.mit.edu	37	19	52220299	52220299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:52220299G>A	ENST00000222115.1	-	3	884	c.850C>T	c.(850-852)Cga>Tga	p.R284*	HAS1_ENST00000601714.1_Nonsense_Mutation_p.R291*|HAS1_ENST00000594621.1_Nonsense_Mutation_p.R138*|HAS1_ENST00000540069.2_Nonsense_Mutation_p.R283*	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1			40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)			ACCCAGTATCGCAGGCTGCTT	0.602000													NSCLC(132;636 2450 45807 47979)											0							SO:0001587	stop_gained			ENST00000222115.1	0	1	hg19	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	g	36	5.695940	0.96802	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	.	.	.	4.08	2.95	0.34219	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9004	9.8479	0.41039	0.0:0.0:0.6878:0.3122	.	.	.	.	X	283;284;141;138	.	ENSP00000222115:R284X	R	-	1	2	HAS1	56912111	0.220000	0.23631	1.000000	0.80357	0.993000	0.82548	0.628000	0.24522	2.014000	0.59158	0.489000	0.48404	CGA		TCGA-FB-A78T-01A-12D-A32N-08	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	1	0	1	153	392	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1.000000	150	391	0	115	2		0	0	0	0	116	2	-8.885100	1	1	0	0		1	1	2	3	2.106774	0	0.550000	1.940000	0.558499	0.990000	9.000000e-01	1.000000	1.000000	0.988535	0.990000	1	0.960000	1.000000
ADAMTSL4	54507	broad.mit.edu	37	1	150528719	150528719	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:150528719C>T	ENST00000369038.2	+	7	1654	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R508C|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R485C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R485C			Q6UY14	ATL4_HUMAN	ADAMTS-like 4			32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		TTCTACCTGTCGCCTTGTTTC	0.612000																								0							SO:0001583	missense			ENST00000369038.2	1	1	hg19	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599584	0.66332	2.27E-4	0.0	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.72	4.72	0.59763	.	.	.	.	.	T	0.71626	0.3362	M	0.71871	2.18	0.44570	D	0.997533	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;P;P;P	0.63113	0.911;0.901;0.88;0.809	T	0.75736	-0.3213	9	0.87932	D	0	.	10.2988	0.43639	0.1967:0.8033:0.0:0.0	.	508;508;485;485	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	C	485;485;508;485	ENSP00000358037:R485C;ENSP00000271643:R485C;ENSP00000358035:R508C;ENSP00000358034:R485C	ENSP00000271643:R485C	R	+	1	0	ADAMTSL4	148795343	0.400000	0.25295	0.898000	0.35279	0.996000	0.88848	2.063000	0.41423	2.449000	0.82847	0.462000	0.41574	CGC		TCGA-FB-A78T-01A-12D-A32N-08	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	1	0	1	155	568	0	169	1	9.999993e-01	3	72	0	169	2		0	0	0	0	0	2	1	1.000000	154	560	0	166	2		0	0	0	0	169	2	-4.017719	1	1	121412	2	39	1	1	2	3	2.344206	1	0.550000	1.940000	0.606299	0.910000	7.700000e-01	1.000000	0.890000	0.918200	0.910000	1	0.830000	1.000000
LCE1A	353131	broad.mit.edu	37	1	152800035	152800035	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:152800035C>T	ENST00000335123.2	+	1	87	c.87C>T	c.(85-87)tgC>tgT	p.C29C		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A			8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)		ctcctaagtgccccccaaagt	0.667000																								0							SO:0001819	synonymous_variant			ENST00000335123.2	0	1	hg19	CCDS1028.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	0	0	0	6	545	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	0.962894	6	534	0	128	2		0	0	0	0	132	2	-2.266049	0	1	121412	3	38	1	1	2	3	2.344206	1	0.550000	1.940000	0.606299	0.050000	0	1.000000	0.050000	0.281685	0.050000	0	0.020000	1.000000
PBXIP1	57326	broad.mit.edu	37	1	154918319	154918319	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:154918319G>A	ENST00000368463.3	-	10	1902	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	PBXIP1_ENST00000368465.1_Missense_Mutation_p.R582W|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R438W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R456W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1			24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)		TCCTGTTGCCGCACTGGGGCT	0.627000																								0							SO:0001583	missense			ENST00000368463.3	0	1	hg19	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303611	0.60305	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.16743	2.32;2.34;2.38;2.36	4.72	3.79	0.43588	.	0.612341	0.15264	N	0.271642	T	0.23289	0.0563	M	0.62723	1.935	0.30294	N	0.790065	D	0.89917	1.0	D	0.66196	0.942	T	0.03121	-1.1070	10	0.87932	D	0	-17.2576	11.8382	0.52338	0.0:0.0:0.8238:0.1762	.	611	Q96AQ6	PBIP1_HUMAN	W	582;611;438;387;456	ENSP00000357450:R582W;ENSP00000357448:R611W;ENSP00000440142:R438W;ENSP00000438584:R456W	ENSP00000357448:R611W	R	-	1	2	PBXIP1	153184943	0.564000	0.26602	0.999000	0.59377	0.959000	0.62525	1.282000	0.33226	1.157000	0.42530	0.462000	0.41574	CGG		TCGA-FB-A78T-01A-12D-A32N-08	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	0	0	0	5	430	0	85	0	8.854273e-01	0	338	0	85	2		0	0	0	0	0	2	1	0.937122	5	428	0	85	2		0	0	0	0	85	2	-2.659484	1	1	121410	2	30	1	1	2	3	2.344206	1	0.550000	1.940000	0.606299	0.050000	0	1.000000	0.050000	0.285034	0.050000	0	0.030000	1.000000
TRIM46	80128	broad.mit.edu	37	1	155149492	155149492	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:155149492C>T	ENST00000334634.4	+	4	754	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.R252W|TRIM46_ENST00000543729.1_Missense_Mutation_p.R259W|TRIM46_ENST00000368382.1_Missense_Mutation_p.R229W|TRIM46_ENST00000392451.2_Missense_Mutation_p.R252W|TRIM46_ENST00000368385.4_Missense_Mutation_p.R252W|TRIM46_ENST00000545012.1_Missense_Mutation_p.R126W|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46			29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		CTGCCGGGTGCGGCGCACCCA	0.572000											OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000334634.4	0	1	hg19	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082698	0.76528	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.43	3.49	0.39957	Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	L	0.59436	1.845	0.40970	D	0.984693	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77557	0.938;0.99;0.981;0.99;0.987	T	0.48445	-0.9035	10	0.49607	T	0.09	.	12.1901	0.54266	0.4685:0.5314:0.0:0.0	.	239;252;229;252;252	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	W	259;239;252;126;252;252;229;252	ENSP00000442719:R259W;ENSP00000357369:R252W;ENSP00000440254:R126W;ENSP00000376245:R252W;ENSP00000357367:R252W;ENSP00000357366:R229W;ENSP00000334657:R252W	ENSP00000334657:R252W	R	+	1	2	TRIM46	153416116	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	0.515000	0.22801	0.690000	0.31570	0.655000	0.94253	CGG		TCGA-FB-A78T-01A-12D-A32N-08	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	0	0	0	6	553	0	108	0	0	0	1	0	108	2		0	0	0	0	0	2	1	0.963337	6	544	0	108	2		0	0	0	0	108	2	-2.502898	1	1	121412	1	34	1	1	2	3	2.344206	1	0.550000	1.940000	0.606299	0.050000	0	1.000000	0.050000	0.281090	0.050000	0	0.020000	1.000000
POU2F1	5451	broad.mit.edu	37	1	167384904	167384904	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:167384904G>A	ENST00000541643.3	+	17	2251	c.2089G>A	c.(2089-2091)Gca>Aca	p.A697T	POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.A709T|POU2F1_ENST00000429375.2_Missense_Mutation_p.A657T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A720T			P14859	PO2F1_HUMAN	POU class 2 homeobox 1			30					CTCTGCCGCCGCAGCATCTGC	0.602000																								0							SO:0001583	missense			ENST00000541643.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.83	3.901045	0.72754	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000541643;ENST00000367862	D;D;D;D;D	0.89746	-2.55;-2.53;-2.53;-2.52;-2.56	5.29	5.29	0.74685	.	0.188821	0.44902	D	0.000419	T	0.81211	0.4775	N	0.19112	0.55	0.35590	D	0.806972	D;D;D;P	0.56521	0.96;0.976;0.976;0.892	B;B;P;B	0.46510	0.151;0.29;0.519;0.151	D	0.85609	0.1257	9	0.87932	D	0	.	17.295	0.87168	0.0:0.0:1.0:0.0	.	657;709;695;697	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	T	720;657;695;697;709	ENSP00000356840:A720T;ENSP00000401217:A657T;ENSP00000356839:A695T;ENSP00000441285:A697T;ENSP00000356836:A709T	ENSP00000356836:A709T	A	+	1	0	POU2F1	165651528	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.572000	0.60886	2.746000	0.94184	0.591000	0.81541	GCA		TCGA-FB-A78T-01A-12D-A32N-08	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	6	957	0	194	0	8.313247e-03	0	18	0	194	2		0	0	0	0	0	2	1	0.963151	6	941	0	194	2		0	0	0	0	194	2	-1.903956	0	1	121412	2	40	1	1	2	3	2.329890	1	0.550000	1.940000	0.605350	0.020000	0	1.000000	0.030000	0.264545	0.020000	0	0.010000	1.000000
PRELP	5549	broad.mit.edu	37	1	203452587	203452587	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:203452587G>A	ENST00000343110.2	+	2	402	c.275G>A	c.(274-276)cGc>cAc	p.R92H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein			36			BRCA - Breast invasive adenocarcinoma(75;0.109)		TGTGATAGCCGCAACCTGCGA	0.587000																								0							SO:0001583	missense			ENST00000343110.2	0	1	hg19	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.136216	0.77662	.	.	ENSG00000188783	ENST00000343110	D	0.97066	-4.23	4.71	4.71	0.59529	Leucine-rich repeat-containing N-terminal (2);	0.065635	0.64402	D	0.000012	D	0.98115	0.9378	M	0.76727	2.345	0.54753	D	0.999984	D	0.89917	1.0	D	0.83275	0.996	D	0.98206	1.0470	10	0.40728	T	0.16	-15.1291	16.2483	0.82460	0.0:0.0:1.0:0.0	.	92	P51888	PRELP_HUMAN	H	92	ENSP00000343924:R92H	ENSP00000343924:R92H	R	+	2	0	PRELP	201719210	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.990000	0.56965	2.165000	0.68154	0.462000	0.41574	CGC		TCGA-FB-A78T-01A-12D-A32N-08	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	0	0	0	6	579	0	141	0	4.885853e-01	0	144	0	141	2		0	0	0	0	0	2	1	0.962615	6	567	0	140	2		0	0	0	0	141	2	-1.922904	0	1	0	0		1	1	2	3	2.349500	1	0.550000	1.940000	0.603437	0.050000	0	1.000000	0.050000	0.279287	0.050000	0	0.020000	1.000000
CR2	1380	broad.mit.edu	37	1	207642232	207642232	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:207642232T>A	ENST00000367058.3	+	4	911	c.722T>A	c.(721-723)tTc>tAc	p.F241Y	CR2_ENST00000458541.2_Missense_Mutation_p.F241Y|CR2_ENST00000367057.3_Missense_Mutation_p.F241Y|CR2_ENST00000367059.3_Missense_Mutation_p.F241Y|CR2_ENST00000485707.1_3'UTR	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2			69					GCAAACTTTTTCTGTGATGAA	0.433000																								0							SO:0001583	missense			ENST00000367058.3	1	1	hg19	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	7.620	0.676604	0.14841	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.36	-0.327	0.12694	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46092	0.1375	N	0.11284	0.12	0.09310	N	1	B;P;B	0.40578	0.376;0.722;0.325	B;P;B	0.48921	0.426;0.595;0.3	T	0.37596	-0.9699	9	0.51188	T	0.08	.	3.5273	0.07763	0.3165:0.4366:0.0:0.2469	.	241;241;241	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Y	241	ENSP00000356025:F241Y;ENSP00000356024:F241Y;ENSP00000356026:F241Y;ENSP00000404222:F241Y	ENSP00000356024:F241Y	F	+	2	0	CR2	205708855	0.003000	0.15002	0.016000	0.15963	0.002000	0.02628	0.038000	0.13862	-0.015000	0.14150	-1.098000	0.02139	TTC		TCGA-FB-A78T-01A-12D-A32N-08	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	1	0	0	15	312	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	0.999863	15	306	0	50	2		0	0	0	0	50	2	-16.783320	1	1	0	0		1	1	2	3	2.349500	1	0.550000	1.940000	0.603437	0.210000	1.100000e-01	1.000000	0.190000	0.394126	0.210000	0	0.150000	1.000000
OBSCN	84033	broad.mit.edu	37	1	228480445	228480445	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:228480445G>A	ENST00000422127.1	+	40	10869	c.10825G>A	c.(10825-10827)Gtg>Atg	p.V3609M	OBSCN_ENST00000284548.11_Missense_Mutation_p.V3609M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V728M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V4038M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2456M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V728M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			GTACTCGTGCGTGTGCGGGCA	0.577000																								0							SO:0001583	missense			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499541	0.44455	2.33E-4	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.38	1.45	0.22620	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167348	0.41097	N	0.000958	T	0.68348	0.2991	M	0.81112	2.525	0.22266	N	0.999248	P;P	0.48407	0.91;0.89	P;P	0.46585	0.521;0.454	T	0.60860	-0.7179	10	0.33940	T	0.23	.	10.045	0.42182	0.2732:0.0:0.7268:0.0	.	3609;3609	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	3609;3609;728;728;2456	ENSP00000284548:V3609M;ENSP00000409493:V3609M;ENSP00000355668:V728M;ENSP00000355670:V728M;ENSP00000352613:V2456M	ENSP00000284548:V3609M	V	+	1	0	OBSCN	226547068	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	-0.104000	0.10923	0.017000	0.15025	0.561000	0.74099	GTG		TCGA-FB-A78T-01A-12D-A32N-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	139	459	0	140	0	5.474210e-02	0	2	0	140	2		0	0	0	0	0	2	1	1.000000	139	452	0	137	2		0	0	0	0	140	2	-4.848147	1	1	121168	5	42	1	1	2	3	2.333656	1	0.550000	1.940000	0.603437	0.980000	8.200000e-01	1.000000	1.000000	0.960648	0.980000	1	0.890000	1.000000
MANEAL	149175	broad.mit.edu	37	1	38265867	38265867	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:38265867C>T	ENST00000373045.6	+	4	1747	c.1366C>T	c.(1366-1368)Ctc>Ttc	p.L456F	MANEAL_ENST00000525897.1_Missense_Mutation_p.L262F|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.L234F|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like			7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)			GGAGCAGTGGCTCATGTGAGG	0.582000																								0							SO:0001583	missense			ENST00000373045.6	1	1	hg19	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824681	0.71143	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	4.51	0.55191	.	0.063428	0.64402	D	0.000006	T	0.68284	0.2984	M	0.65975	2.015	0.51767	D	0.999932	D;D	0.64830	0.962;0.994	P;P	0.59889	0.528;0.865	T	0.70414	-0.4878	9	0.62326	D	0.03	-8.2914	11.3578	0.49625	0.0:0.8696:0.0:0.1304	.	234;456	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	F	456;262;234	.	ENSP00000328770:L234F	L	+	1	0	MANEAL	38038454	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.014000	0.49590	2.662000	0.90505	0.655000	0.94253	CTC		TCGA-FB-A78T-01A-12D-A32N-08	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	1	0	1	37	272	0	83	1	8.166006e-01	5	20	0	83	2		0	0	0	0	0	2	1	1.000000	37	261	0	79	2		0	0	0	0	83	2	-20.000000	1	1	0	0		1	0	1	1	1.824016	1	0.550000	1.940000	0.488055	0.380000	2.700000e-01	0.500000	0.380000	0.389232	0.380000	0	0.320000	0.450000
NCOA6	23054	broad.mit.edu	37	20	33345146	33345146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:33345146G>A	ENST00000374796.2	-	8	3975	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q469*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6			107					CTGACAGGCTGCTGAAATCCC	0.557000																								0							SO:0001587	stop_gained			ENST00000374796.2	0	1	hg19	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	55	23.676371	0.99956	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-2.9148	19.8745	0.96864	0.0:0.0:1.0:0.0	.	.	.	.	X	469	.	ENSP00000351894:Q469X	Q	-	1	0	NCOA6	32808807	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.229000	0.95273	2.704000	0.92352	0.467000	0.42956	CAG		TCGA-FB-A78T-01A-12D-A32N-08	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	0	0	1	159	435	0	137	1	9.896963e-01	5	17	0	137	2		0	0	0	0	0	2	1	1.000000	155	430	0	136	2		0	0	0	0	137	2	-20.000000	1	1	0	0		1	0	0	0	2.037065	0	0.550000	1.940000	0.550000	0.960000	8.400000e-01	1.000000	1.000000	0.958971	0.960000	1	0.900000	1.000000
PTPRT	11122	broad.mit.edu	37	20	40980846	40980846	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:40980846T>C	ENST00000373187.1	-	10	1639	c.1640A>G	c.(1639-1641)aAt>aGt	p.N547S	PTPRT_ENST00000373198.4_Missense_Mutation_p.N547S|PTPRT_ENST00000356100.2_Missense_Mutation_p.N547S|PTPRT_ENST00000373184.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373201.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373190.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373193.3_Missense_Mutation_p.N547S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T			176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)			GTGGGTTTCATTCCGGAGCTT	0.567000																								0							SO:0001583	missense			ENST00000373187.1	1	1	hg19	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112398	0.56398	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.093376	0.64402	D	0.000001	T	0.49541	0.1563	L	0.47190	1.495	0.58432	D	0.999992	B;B	0.32893	0.337;0.389	B;B	0.33454	0.102;0.164	T	0.48340	-0.9044	10	0.46703	T	0.11	.	16.5549	0.84482	0.0:0.0:0.0:1.0	.	547;547	O14522-1;O14522	.;PTPRT_HUMAN	S	547	ENSP00000362286:N547S;ENSP00000362283:N547S;ENSP00000362289:N547S;ENSP00000348408:N547S;ENSP00000362294:N547S;ENSP00000362280:N547S;ENSP00000362297:N547S	ENSP00000348408:N547S	N	-	2	0	PTPRT	40414260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	2.310000	0.77875	0.450000	0.29827	AAT		TCGA-FB-A78T-01A-12D-A32N-08	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	0	0	1	114	313	0	103	0	7.231528e-02	0	2	0	103	2		0	0	0	0	0	2	1	1.000000	114	311	0	101	2		0	0	0	0	103	2	-20.000000	1	0	0	0		1	0	0	0	2.037065	0	0.550000	1.940000	0.550000	0.960000	8.100000e-01	1.000000	1.000000	0.953353	0.960000	1	0.880000	1.000000
TOX2	84969	broad.mit.edu	37	20	42695426	42695426	+	Silent	SNP	A	A	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:42695426A>T	ENST00000358131.5	+	7	1567	c.1359A>T	c.(1357-1359)ccA>ccT	p.P453P	TOX2_ENST00000372999.1_Silent_p.P429P|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.P471P|TOX2_ENST00000423191.2_Silent_p.P429P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2			26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)		CACCTGGCCCATCCAACCCCA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000358131.5	0	1	hg19	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	A	5.215	0.225183	0.09916	.	.	ENSG00000124191	ENST00000372992;ENST00000413823	.	.	.	5.78	-11.3	0.00108	.	.	.	.	.	T	0.74997	0.3790	.	.	.	0.38329	D	0.943755	.	.	.	.	.	.	D	0.87310	0.2311	5	0.87932	D	0	.	20.2522	0.98409	0.8527:0.0:0.1473:0.0	.	.	.	.	L	78	.	ENSP00000362083:H78L	H	+	2	0	TOX2	42128840	0.071000	0.21146	0.033000	0.17914	0.065000	0.16274	-0.405000	0.07196	-3.008000	0.00273	-2.200000	0.00306	CAT		TCGA-FB-A78T-01A-12D-A32N-08	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	1	0	0	28	676	0	158	0	5.076338e-03	0	3	0	158	2		0	0	0	0	0	2	1	1.000000	28	663	0	158	2		0	0	0	0	158	2	-4.558762	1	1	0	0		1	0	0	0	2.037065	0	0.550000	1.940000	0.550000	0.140000	9.000000e-02	0.200000	0.140000	0.149179	0.140000	0	0.110000	0.180000
ZC3H6	376940	broad.mit.edu	37	2	113089550	113089550	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:113089550G>A	ENST00000409871.1	+	12	3456	c.3055G>A	c.(3055-3057)Ggg>Agg	p.G1019R	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G1019R|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6			35					TTCTGGTTCCGGGGCTCTGCC	0.507000																								0							SO:0001583	missense			ENST00000409871.1	1	1	hg19	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	5.393	0.257724	0.10239	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.13538	2.58;2.58	5.33	3.27	0.37495	.	0.565940	0.18877	N	0.128691	T	0.11452	0.0279	L	0.44542	1.39	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.25152	-1.0140	10	0.33141	T	0.24	-0.002	8.1676	0.31237	0.2758:0.0:0.7242:0.0	.	1019	P61129	ZC3H6_HUMAN	R	1019	ENSP00000386764:G1019R;ENSP00000340298:G1019R	ENSP00000340298:G1019R	G	+	1	0	ZC3H6	112806021	1.000000	0.71417	0.162000	0.22713	0.473000	0.32948	4.501000	0.60393	0.434000	0.26340	0.591000	0.81541	GGG		TCGA-FB-A78T-01A-12D-A32N-08	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	1	0	1	40	149	0	51	0	3.801537e-01	0	6	0	51	2		0	0	0	0	0	2	1	1.000000	40	146	0	51	2		0	0	0	0	51	2	-3.114658	1	1	0	0		1	0	0	0	2.020472	0	0.550000	1.940000	0.547511	0.760000	5.600000e-01	0.980000	0.770000	0.771945	0.760000	0	0.660000	0.880000
VSNL1	7447	broad.mit.edu	37	2	17830679	17830679	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:17830679C>A	ENST00000406397.1	+	3	690	c.165C>A	c.(163-165)ttC>ttA	p.F55L	VSNL1_ENST00000295156.4_Missense_Mutation_p.F55L|VSNL1_ENST00000404666.2_Missense_Mutation_p.F55L			P62760	VISL1_HUMAN	visinin-like 1			13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				CTTTGCAGTTCTTTCCTTATG	0.572000																								0							SO:0001583	missense			ENST00000406397.1	1	1	hg19	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911958	0.52439	.	.	ENSG00000163032	ENST00000404666;ENST00000457525;ENST00000295156;ENST00000451533;ENST00000406397	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	4.34	3.44	0.39384	EF-hand-like domain (1);	0.104574	0.64402	D	0.000002	T	0.28134	0.0694	M	0.79123	2.44	0.58432	D	0.999991	B	0.12013	0.005	B	0.10450	0.005	T	0.28713	-1.0035	10	0.72032	D	0.01	.	7.306	0.26447	0.0:0.7406:0.0:0.2594	.	55	P62760	VISL1_HUMAN	L	55	ENSP00000384014:F55L;ENSP00000405511:F55L;ENSP00000295156:F55L;ENSP00000390124:F55L;ENSP00000384719:F55L	ENSP00000295156:F55L	F	+	3	2	VSNL1	17694160	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.151000	0.42263	2.122000	0.65172	0.454000	0.30748	TTC		TCGA-FB-A78T-01A-12D-A32N-08	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	1	0	1	55	386	0	120	0	8.095731e-02	1	2	0	120	2		0	0	0	0	0	2	1	1.000000	55	382	0	120	2		0	0	0	0	120	2	-19.993120	1	1	0	0		1	0	0	0	2.020472	0	0.550000	1.940000	0.547511	0.440000	3.400000e-01	0.570000	0.450000	0.456292	0.440000	0	0.390000	0.510000
TTN	7273	broad.mit.edu	37	2	179425623	179425623	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:179425623A>C	ENST00000591111.1	-	276	80537	c.80313T>G	c.(80311-80313)caT>caG	p.H26771Q	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H25844Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H19347Q|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H28412Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H19539Q|TTN_ENST00000359218.5_Missense_Mutation_p.H19472Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TTAACAAAGTATGATTGTCTG	0.433000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	3.073	-0.190763	0.06299	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.97	-0.842	0.10748	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49795	0.1578	L	0.41961	1.31	0.09310	N	0.999996	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.17979	0.011;0.011;0.02;0.02	T	0.49360	-0.8948	9	0.87932	D	0	.	6.1603	0.20360	0.543:0.0:0.3354:0.1216	.	19347;19472;19539;26771	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	25844;19347;19539;19472;19345	ENSP00000343764:H25844Q;ENSP00000434586:H19347Q;ENSP00000340554:H19539Q;ENSP00000352154:H19472Q	ENSP00000340554:H19539Q	H	-	3	2	TTN	179133869	0.000000	0.05858	0.039000	0.18376	0.227000	0.25037	-0.205000	0.09411	0.170000	0.19704	0.533000	0.62120	CAT		TCGA-FB-A78T-01A-12D-A32N-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	7	187	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	0.980476	7	185	0	43	2		0	0	0	0	43	2	-9.667730	1	1	0	0		1	0	0	0	2.020472	0	0.550000	1.940000	0.547511	0.130000	5.000000e-02	0.250000	0.130000	0.146980	0.130000	0	0.090000	0.200000
TNS1	7145	broad.mit.edu	37	2	218683151	218683151	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:218683151G>A	ENST00000171887.4	-	24	4044	c.3592C>T	c.(3592-3594)Cgg>Tgg	p.R1198W	TNS1_ENST00000419504.1_Missense_Mutation_p.R1185W|TNS1_ENST00000430930.1_Missense_Mutation_p.R1177W	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1			79		Renal(207;0.0483)|Lung NSC(271;0.213)			TTGATGGCCCGCCAGCCGAAG	0.632000																								0							SO:0001583	missense			ENST00000171887.4	0	1	hg19	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344661	0.61073	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.92965	-3.14;1.75;-3.13;-3.13	4.61	4.61	0.57282	.	0.275476	0.28784	N	0.014151	D	0.93569	0.7947	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.976;0.995;0.994	D	0.93425	0.6780	10	0.72032	D	0.01	.	10.717	0.46019	0.0:0.0:0.6693:0.3307	.	1198;1177;1185	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	W	1198;336;1185;1177	ENSP00000171887:R1198W;ENSP00000394171:R336W;ENSP00000408724:R1185W;ENSP00000406016:R1177W	ENSP00000171887:R1198W	R	-	1	2	TNS1	218391396	0.758000	0.28405	0.999000	0.59377	0.780000	0.44128	0.682000	0.25335	2.403000	0.81681	0.563000	0.77884	CGG		TCGA-FB-A78T-01A-12D-A32N-08	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	0	0	0	6	529	0	140	0	1.836221e-01	1	57	0	140	2		0	0	0	0	0	2	1	0.962393	6	516	0	138	2		0	0	0	0	140	2	-2.414124	0	1	121412	6	37	1	0	0	0	2.020472	0	0.550000	1.940000	0.547511	0.030000	0	0.090000	0.040000	0.047008	0.030000	0	0.020000	0.070000
NCAPH	23397	broad.mit.edu	37	2	97033078	97033078	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:97033078G>A	ENST00000240423.4	+	15	2008	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	NCAPH_ENST00000455200.1_Silent_p.L644L|NCAPH_ENST00000427946.1_Silent_p.L519L	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H			28		Ovarian(717;0.0221)			GGAGTCTGCTGACAGCGCTCT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000240423.4	1	1	hg19	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	4.855	0.158883	0.09236	.	.	ENSG00000121152	ENST00000435349	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	T	0.64000	0.2559	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60895	-0.7172	4	.	.	.	-11.9218	11.4063	0.49900	0.0812:0.0:0.9188:0.0	.	.	.	.	N	96	.	.	D	+	1	0	NCAPH	96396805	1.000000	0.71417	0.995000	0.50966	0.514000	0.34195	2.854000	0.48325	2.890000	0.99128	0.650000	0.86243	GAC		TCGA-FB-A78T-01A-12D-A32N-08	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	1	0	0	16	327	0	86	0	3.309498e-01	1	23	0	86	2		0	0	0	0	0	2	1	0.999932	16	323	0	86	2		0	0	0	0	86	2	-4.807584	1	1	0	0		1	0	0	0	2.020472	0	0.550000	1.940000	0.547511	0.160000	9.000000e-02	0.260000	0.170000	0.177770	0.160000	0	0.130000	0.220000
TMEM131	23505	broad.mit.edu	37	2	98377121	98377121	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:98377121G>T	ENST00000186436.5	-	38	5271	c.5043C>A	c.(5041-5043)aaC>aaA	p.N1681K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131			57					AACCTGTTTTGTTTGAAGAAA	0.507000																								0							SO:0001583	missense			ENST00000186436.5	1	1	hg19	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992820	0.35131	.	.	ENSG00000075568	ENST00000186436	T	0.30714	1.52	5.39	2.12	0.27331	.	0.600408	0.18546	N	0.138053	T	0.13927	0.0337	N	0.24115	0.695	0.80722	D	1	B;B	0.16396	0.002;0.017	B;B	0.12837	0.001;0.008	T	0.12734	-1.0536	10	0.05721	T	0.95	-8.0245	4.4318	0.11531	0.3871:0.0:0.4636:0.1493	.	1681;61	Q92545;Q0P631	TM131_HUMAN;.	K	1681	ENSP00000186436:N1681K	ENSP00000186436:N1681K	N	-	3	2	TMEM131	97743553	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	1.997000	0.40786	0.764000	0.33197	0.643000	0.83706	AAC		TCGA-FB-A78T-01A-12D-A32N-08	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	1	35	65	0	33	1	1	29	70	0	33	2		0	0	0	0	0	2	1	1.000000	35	65	0	33	2		0	0	0	0	33	2	-20.000000	1	1	0	0		1	0	0	0	2.020472	0	0.550000	1.940000	0.547511	0.990000	9.300000e-01	1.000000	1.000000	0.996526	0.990000	1	0.990000	1.000000
ARHGAP31	57514	broad.mit.edu	37	3	119132851	119132851	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:119132851C>T	ENST00000264245.4	+	12	2607	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31			67					AGTCTGGGGCCCTTTATTCCC	0.562000													Pancreas(7;176 297 5394 51128 51241)											0							SO:0001583	missense			ENST00000264245.4	1	1	hg19	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896949	0.33535	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06142	3.34	4.89	4.01	0.46588	.	0.998160	0.08112	N	0.996113	T	0.06325	0.0163	L	0.32530	0.975	0.09310	N	0.999999	B	0.27229	0.172	B	0.22386	0.039	T	0.34750	-0.9816	10	0.48119	T	0.1	.	7.3783	0.26841	0.1709:0.7374:0.0:0.0917	.	692	Q2M1Z3	RHG31_HUMAN	L	692	ENSP00000264245:P692L	ENSP00000264245:P692L	P	+	2	0	ARHGAP31	120615541	0.000000	0.05858	0.016000	0.15963	0.012000	0.07955	1.015000	0.29963	1.284000	0.44531	-0.169000	0.13324	CCC		TCGA-FB-A78T-01A-12D-A32N-08	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	1	0	1	179	625	0	177	0	4.850921e-01	0	7	0	177	2		0	0	0	0	0	2	1	1.000000	178	617	0	175	2		0	0	0	0	177	2	-4.594515	1	1	0	0		1	0	0	0	2.030228	0	0.550000	1.940000	0.550000	0.800000	7.000000e-01	0.910000	0.810000	0.811256	0.800000	0	0.750000	0.860000
PARP9	83666	broad.mit.edu	37	3	122274267	122274267	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:122274267C>A	ENST00000360356.2	-	4	1083	c.856G>T	c.(856-858)Gct>Tct	p.A286S	PARP9_ENST00000477522.2_Missense_Mutation_p.A251S|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.A251S|PARP9_ENST00000462315.1_Missense_Mutation_p.A251S	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9			34					TTAAAGGCAGCAACAGTAGGG	0.448000																								0							SO:0001583	missense			ENST00000360356.2	1	1	hg19	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746139	0.49151	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.38	4.37	0.52481	Appr-1-p processing (1);	0.787865	0.11079	N	0.601994	T	0.23965	0.0580	L	0.58428	1.81	0.28693	N	0.904515	B;P;P	0.46395	0.094;0.877;0.835	B;B;P	0.45794	0.056;0.339;0.493	T	0.05241	-1.0897	10	0.15499	T	0.54	.	7.7777	0.29048	0.0:0.7824:0.0:0.2176	.	251;286;251	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	S	286;251;251;209;251	ENSP00000353512:A286S;ENSP00000419506:A251S;ENSP00000419001:A251S;ENSP00000418894:A251S	ENSP00000353512:A286S	A	-	1	0	PARP9	123756957	0.010000	0.17322	0.992000	0.48379	0.940000	0.58332	0.631000	0.24568	1.254000	0.44035	0.655000	0.94253	GCT		TCGA-FB-A78T-01A-12D-A32N-08	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	1	0	1	182	542	0	148	1	9.999949e-01	22	32	0	148	2		0	0	0	0	0	2	1	1.000000	181	537	0	146	2		0	0	0	0	148	2	-20.000000	1	1	0	0		1	0	0	0	2.030228	0	0.550000	1.940000	0.550000	0.900000	7.900000e-01	1.000000	1.000000	0.913388	0.900000	1	0.850000	0.970000
CLSTN2	64084	broad.mit.edu	37	3	140282022	140282022	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:140282022G>A	ENST00000458420.3	+	15	2649	c.2459G>A	c.(2458-2460)cGg>cAg	p.R820Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2			87					CCTGAGTCCCGGAGTAGCATC	0.512000										HNSCC(16;0.037)			GBM(45;858 913 3709 36904 37282)											0							SO:0001583	missense			ENST00000458420.3	1	1	hg19	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	9.283	1.048756	0.19827	.	.	ENSG00000158258	ENST00000458420	T	0.32515	1.45	5.4	-1.53	0.08611	.	1.541910	0.04448	N	0.372030	T	0.11239	0.0274	N	0.01352	-0.895	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27157	-1.0082	9	.	.	.	-9.2662	9.9589	0.41684	0.5434:0.0:0.4566:0.0	.	820	Q9H4D0	CSTN2_HUMAN	Q	820	ENSP00000402460:R820Q	.	R	+	2	0	CLSTN2	141764712	0.000000	0.05858	0.988000	0.46212	0.992000	0.81027	0.351000	0.20096	-0.222000	0.09958	0.655000	0.94253	CGG		TCGA-FB-A78T-01A-12D-A32N-08	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	1	0	1	112	346	0	110	0	6.074696e-02	0	2	0	110	2		0	0	0	0	0	2	1	1.000000	109	342	0	110	2		0	0	0	0	110	2	-4.421752	1	1	121412	2	37	1	0	0	0	2.030228	0	0.550000	1.940000	0.550000	0.880000	7.400000e-01	1.000000	1.000000	0.889191	0.880000	1	0.810000	0.960000
ABCF3	55324	broad.mit.edu	37	3	183911015	183911015	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:183911015A>G	ENST00000429586.2	+	19	2061	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	ABCF3_ENST00000292808.5_Missense_Mutation_p.M620V|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3			39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		TCAGATGACTATGCCCTGGTG	0.557000																								0							SO:0001583	missense			ENST00000429586.2	1	1	hg19	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107864	0.56291	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.84800	-1.9;-1.9	4.8	4.8	0.61643	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	N	0.10945	0.07	0.80722	D	1	P;P	0.43352	0.619;0.804	B;B	0.44044	0.341;0.439	T	0.80070	-0.1536	10	0.52906	T	0.07	-29.4571	13.9755	0.64271	1.0:0.0:0.0:0.0	.	620;626	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	V	626;620	ENSP00000411471:M626V;ENSP00000292808:M620V	ENSP00000292808:M620V	M	+	1	0	ABCF3	185393709	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.064000	0.71169	2.140000	0.66376	0.460000	0.39030	ATG		TCGA-FB-A78T-01A-12D-A32N-08	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	1	0	1	144	415	0	135	1	1	54	138	0	135	2		0	0	0	0	0	2	1	1.000000	142	410	0	134	2		0	0	0	0	135	2	-20.000000	1	1	0	0		1	0	0	0	2.030228	0	0.550000	1.940000	0.550000	0.930000	8.000000e-01	1.000000	1.000000	0.931625	0.930000	1	0.860000	1.000000
ZNF385D	79750	broad.mit.edu	37	3	21706481	21706481	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:21706481C>T	ENST00000281523.2	-	2	580	c.62G>A	c.(61-63)cGt>cAt	p.R21H	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D			46					GGCTGGTGGACGGACAAGGGC	0.517000																								0							SO:0001583	missense			ENST00000281523.2	1	1	hg19	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106592	0.56291	.	.	ENSG00000151789	ENST00000281523	T	0.33654	1.4	5.62	4.75	0.60458	.	0.129051	0.52532	N	0.000066	T	0.35189	0.0923	L	0.55481	1.735	0.38752	D	0.954131	B	0.09022	0.002	B	0.04013	0.001	T	0.23048	-1.0199	10	0.51188	T	0.08	-8.954	13.2857	0.60241	0.0:0.924:0.0:0.076	.	21	Q9H6B1	Z385D_HUMAN	H	21	ENSP00000281523:R21H	ENSP00000281523:R21H	R	-	2	0	ZNF385D	21681485	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.054000	0.57434	1.376000	0.46267	0.591000	0.81541	CGT		TCGA-FB-A78T-01A-12D-A32N-08	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	1	0	1	50	159	0	58	0	0	0	1	0	58	2		0	0	0	0	0	2	1	1.000000	49	158	0	58	2		0	0	0	0	58	2	-20.000000	1	1	121404	4	37	1	0	0	0	2.030228	0	0.550000	1.940000	0.550000	0.860000	6.600000e-01	1.000000	1.000000	0.868427	0.860000	1	0.760000	0.980000
UBP1	7342	broad.mit.edu	37	3	33467138	33467138	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:33467138G>A	ENST00000283629.3	-	2	738	c.209C>T	c.(208-210)gCt>gTt	p.A70V	UBP1_ENST00000283628.5_Missense_Mutation_p.A70V|UBP1_ENST00000447368.2_Missense_Mutation_p.A70V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)			23					TGACGTTGCAGCACACATCAC	0.423000																								0							SO:0001583	missense			ENST00000283629.3	0	1	hg19	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478314	0.84747	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.92	5.92	0.95590	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	M	0.92459	3.31	0.80722	D	1	B;D	0.54207	0.275;0.965	B;P	0.55161	0.046;0.77	T	0.74259	-0.3723	10	0.87932	D	0	-11.8325	20.33	0.98713	0.0:0.0:1.0:0.0	.	70;70	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	V	70	ENSP00000283629:A70V;ENSP00000395558:A70V;ENSP00000283628:A70V;ENSP00000401614:A70V	ENSP00000283628:A70V	A	-	2	0	UBP1	33442142	1.000000	0.71417	0.961000	0.40146	0.928000	0.56348	9.869000	0.99810	2.810000	0.96702	0.585000	0.79938	GCT		TCGA-FB-A78T-01A-12D-A32N-08	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	0	0	0	4	135	0	39	0	3.671485e-01	0	37	0	39	2		0	0	0	0	0	2	1	0.888059	3	134	0	39	2		0	0	0	0	39	2	-6.255616	1	0	0	0		1	0	0	0	2.030228	0	0.550000	1.940000	0.550000	0.110000	3.000000e-02	0.250000	0.100000	0.128174	0.110000	0	0.060000	0.180000
WDFY3	23001	broad.mit.edu	37	4	85708746	85708746	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr4:85708746G>A	ENST00000295888.4	-	23	4197	c.3790C>T	c.(3790-3792)Cgc>Tgc	p.R1264C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1264C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3			134		Hepatocellular(203;0.114)			GGTCCCAGGCGCCAAACCAAT	0.473000																								0							SO:0001583	missense			ENST00000295888.4	0	1	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384949	0.95967	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.67865	-0.29;-0.29	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	P	0.50791	0.65	T	0.79472	-0.1789	10	0.87932	D	0	.	20.3523	0.98815	0.0:0.0:1.0:0.0	.	1264	Q8IZQ1	WDFY3_HUMAN	C	1264	ENSP00000318466:R1264C;ENSP00000295888:R1264C	ENSP00000295888:R1264C	R	-	1	0	WDFY3	85927770	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.464000	0.97655	2.821000	0.97095	0.484000	0.47621	CGC		TCGA-FB-A78T-01A-12D-A32N-08	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	0	0	0	5	306	0	80	0	4.060952e-03	0	5	0	80	2		0	0	0	0	0	2	1	0.936433	5	303	0	80	2		0	0	0	0	80	2	-2.657713	1	1	0	0		1	1	2	3	2.065685	0	0.550000	1.940000	0.552461	0.060000	1.000000e-02	0.150000	0.060000	0.079008	0.060000	0	0.030000	0.100000
PCDHA9	9752	broad.mit.edu	37	5	140229343	140229343	+	Nonsense_Mutation	SNP	C	C	A	rs150560525	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140229343C>A	ENST00000532602.1	+	1	2296	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Nonsense_Mutation_p.Y421*|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9			59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGTCCGCCTACGAGCTGGTGG	0.642000													Melanoma(55;1800 1972 14909)											0							SO:0001587	stop_gained			ENST00000532602.1	0	1	hg19	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	37	6.376177	0.97515	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	.	.	.	3.6	-1.97	0.07503	.	0.000000	0.29522	U	0.011906	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2054	0.43109	0.0:0.5102:0.0:0.4898	.	.	.	.	X	421	.	ENSP00000367362:Y421X	Y	+	3	2	PCDHA9	140209527	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-0.684000	0.05173	-0.474000	0.06862	-0.752000	0.03492	TAC		TCGA-FB-A78T-01A-12D-A32N-08	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	1	0	1	200	573	0	215		0	0	0	0	215	2		0	0	0	0	0	2	1	1.000000	199	564	0	212	2		0	0	0	0	215	2	-3.142717	1	1	120848	27	50	1	1	2	3	2.051732	0	0.550000	1.940000	0.551234	0.930000	8.200000e-01	1.000000	1.000000	0.939302	0.930000	1	0.880000	1.000000
TRIO	7204	broad.mit.edu	37	5	14369548	14369548	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:14369548G>A	ENST00000344204.4	+	18	3156	c.3132G>A	c.(3130-3132)gcG>gcA	p.A1044A	TRIO_ENST00000509967.2_Silent_p.A995A|TRIO_ENST00000537187.1_Silent_p.A1044A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor			118	Lung NSC(4;0.000742)				GTGGCGGGGCGGATAAGCTGG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000344204.4	0	1	hg19	CCDS3883.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	0	0	0	5	386	0	87	1	6.874335e-02	2	25	0	87	2		0	0	0	0	0	2	1	0.934026	5	377	0	84	2		0	0	0	0	87	2	-5.116934	1	1	121412	1	26	1	1	2	3	2.051732	0	0.550000	1.940000	0.551234	0.040000	0	0.110000	0.040000	0.055476	0.040000	0	0.020000	0.080000
NOP16	51491	broad.mit.edu	37	5	175815524	175815524	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:175815524C>T	ENST00000389158.5	-	1	452	c.17G>A	c.(16-18)gGc>gAc	p.G6D	NOP16_ENST00000510123.1_Missense_Mutation_p.G6D|NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein			8					CCGGGTTTTGCCCTTGGCCTT	0.602000																								0							SO:0001583	missense			ENST00000389158.5	0	1	hg19	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532671	0.85812	0.0	1.17E-4	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000507413;ENST00000451293;ENST00000509257	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.67050	0.2852	L	0.47716	1.5	0.40902	D	0.984165	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.988;0.999;0.999	T	0.61579	-0.7034	8	0.25751	T	0.34	.	12.1692	0.54148	0.0:0.9225:0.0:0.0775	.	6;6;6;6	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	D	6	.	ENSP00000373810:G6D	G	-	2	0	NOP16	175748130	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	2.518000	0.45537	2.894000	0.99253	0.655000	0.94253	GGC		TCGA-FB-A78T-01A-12D-A32N-08	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	0	0	0	6	551	0	170	0	6.700683e-01	0	201	0	170	2		0	0	0	0	0	2	1	0.963124	6	541	0	169	2		0	0	0	0	170	2	-2.294449	0	1	0	0		1	1	2	3	2.051732	0	0.550000	1.940000	0.551234	0.030000	0	0.090000	0.040000	0.045481	0.030000	0	0.020000	0.060000
POLK	51426	broad.mit.edu	37	5	74886218	74886218	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:74886218G>C	ENST00000241436.4	+	11	1481	c.1309G>C	c.(1309-1311)Gaa>Caa	p.E437Q	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.E347Q|POLK_ENST00000504026.1_Missense_Mutation_p.E437Q|POLK_ENST00000352007.5_Intron|POLK_ENST00000515295.1_Missense_Mutation_p.E437Q	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa			27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)			CCTATGTCAAGAACTTTGCAG	0.338000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000241436.4	1	1	hg19	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845069	0.71603	.	.	ENSG00000122008	ENST00000241436;ENST00000515295;ENST00000504026;ENST00000380481	T;T;T;T	0.44083	1.25;0.93;0.93;1.25	5.41	5.41	0.78517	DNA polymerase IV/DinB homologue, little finger domain (1);DNA polymerase, Y-family, little finger domain (2);	0.088157	0.85682	D	0.000000	T	0.56587	0.1995	L	0.43152	1.355	0.80722	D	1	P;D;D	0.56746	0.603;0.969;0.977	P;P;D	0.65573	0.457;0.662;0.936	T	0.52931	-0.8509	10	0.46703	T	0.11	-19.1778	17.7307	0.88376	0.0:0.0:1.0:0.0	.	437;437;437	Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;POLK_HUMAN	Q	437;437;437;347	ENSP00000241436:E437Q;ENSP00000424174:E437Q;ENSP00000425075:E437Q;ENSP00000369848:E347Q	ENSP00000241436:E437Q	E	+	1	0	POLK	74921974	1.000000	0.71417	0.998000	0.56505	0.465000	0.32709	9.536000	0.98067	2.701000	0.92244	0.591000	0.81541	GAA		TCGA-FB-A78T-01A-12D-A32N-08	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	1	0	0	23	385	0	89	0	2.844600e-01	1	17	0	89	2		0	0	0	0	0	2	1	0.999999	23	382	0	87	2		0	0	0	0	89	2	-5.449141	1	1	0	0		1	1	2	3	2.051732	0	0.550000	1.940000	0.551234	0.200000	1.300000e-01	0.300000	0.200000	0.213020	0.200000	0	0.160000	0.260000
HIST1H2BM	8342	broad.mit.edu	37	6	27782982	27782982	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:27782982G>A	ENST00000359465.4	+	1	161	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm			12					CCCGACACCGGCATCTCTTCC	0.542000																								0							SO:0001583	missense			ENST00000359465.4	0	1	hg19	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	13.76	2.332818	0.41297	.	.	ENSG00000196374	ENST00000359465	T	0.69435	-0.4	4.29	4.29	0.51040	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000016	D	0.86648	0.5983	H	0.98487	4.245	0.80722	D	1	D	0.58970	0.984	D	0.65140	0.932	D	0.91772	0.5428	10	0.87932	D	0	.	16.2598	0.82535	0.0:0.0:1.0:0.0	.	54	Q99879	H2B1M_HUMAN	D	54	ENSP00000352442:G54D	ENSP00000352442:G54D	G	+	2	0	HIST1H2BM	27890961	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	9.147000	0.94646	2.373000	0.80994	0.563000	0.77884	GGC		TCGA-FB-A78T-01A-12D-A32N-08	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	0	0	0	7	802	0	207	0	0	0	1	0	207	2		0	0	0	0	0	2	1	0.980556	7	801	0	204	2		0	0	0	0	207	2	-1.711836	0	1	0	0		1	0	0	0	2.011151	0	0.550000	1.940000	0.544995	0.020000	0	0.070000	0.040000	0.034970	0.020000	0	0.010000	0.050000
MAS1L	116511	broad.mit.edu	37	6	29455344	29455344	+	Silent	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:29455344G>T	ENST00000377127.3	-	1	394	c.336C>A	c.(334-336)atC>atA	p.I112I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor			28					CCAGGTGGAGGATGTATACCA	0.527000													NSCLC(153;755 1987 3859 11251 32945)											0							SO:0001819	synonymous_variant			ENST00000377127.3	1	1	hg19	CCDS4661.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	1	0	1	64	189	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1.000000	63	189	0	51	2		0	0	0	0	52	2	-20.000000	1	1	0	0		1	0	0	0	2.011151	0	0.550000	1.940000	0.544995	0.900000	7.200000e-01	1.000000	1.000000	0.903010	0.900000	1	0.810000	1.000000
PIK3CG	5294	broad.mit.edu	37	7	106508903	106508903	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:106508903C>T	ENST00000359195.3	+	2	1207	c.897C>T	c.(895-897)aaC>aaT	p.N299N	PIK3CG_ENST00000496166.1_Silent_p.N299N|PIK3CG_ENST00000440650.2_Silent_p.N299N	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	p.N299N(1)		132					GCCTCAAGAACGGAGAAGAGA	0.587000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000359195.3	1	1	hg19	CCDS5739.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1	1	0	1	55	196	0	66	0	0	0	1	0	66	2		0	0	0	0	0	2	1	1.000000	55	196	0	65	2		0	0	0	0	66	2	-20.000000	1	1	0	0		1	1	2	3	2.056105	0	0.550000	1.940000	0.552461	0.800000	6.200000e-01	1.000000	0.800000	0.807597	0.800000	0	0.700000	0.900000
ZC3HAV1	56829	broad.mit.edu	37	7	138738203	138738203	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:138738203C>T	ENST00000242351.5	-	12	2759	c.2443G>A	c.(2443-2445)Gga>Aga	p.G815R	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.G937R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1			37					TAACCTTTTCCGTATTTGTTT	0.363000																								0							SO:0001583	missense			ENST00000242351.5	1	1	hg19	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550249	0.65311	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.78364	-1.17;-1.17	5.2	5.2	0.72013	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.48767	D	0.000172	D	0.90971	0.7161	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93057	0.6471	10	0.87932	D	0	.	14.6188	0.68569	0.0:1.0:0.0:0.0	.	815	Q7Z2W4	ZCCHV_HUMAN	R	815;937	ENSP00000242351:G815R;ENSP00000418385:G937R	ENSP00000242351:G815R	G	-	1	0	ZC3HAV1	138388743	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	5.613000	0.67688	2.584000	0.87258	0.563000	0.77884	GGA		TCGA-FB-A78T-01A-12D-A32N-08	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	0	0	0	11	413	0	81	0	6.813275e-02	1	14	0	81	2		0	0	0	0	0	2	1	0.998246	10	408	0	80	2		0	0	0	0	81	2	-2.445877	0	1	0	0		1	1	2	3	2.056105	0	0.550000	1.940000	0.552461	0.090000	4.000000e-02	0.180000	0.100000	0.111585	0.090000	0	0.060000	0.130000
CYP11B2	1585	broad.mit.edu	37	8	143994080	143994080	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:143994080G>A	ENST00000323110.2	-	8	1266	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2			39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)			Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGATTATACCGCTCAGGCCTC	0.622000									Familial Hyperaldosteronism type I															0							SO:0001583	missense	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	ENST00000323110.2	0	1	hg19	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	14.36	2.511841	0.44660	.	.	ENSG00000179142	ENST00000323110	T	0.70164	-0.46	3.52	0.551	0.17225	.	0.399630	0.21610	N	0.071815	T	0.78272	0.4257	M	0.89968	3.075	0.26442	N	0.975755	D	0.76494	0.999	D	0.64877	0.93	T	0.67142	-0.5745	10	0.87932	D	0	.	3.2888	0.06942	0.1067:0.1729:0.5433:0.1771	.	422	P19099	C11B2_HUMAN	W	422	ENSP00000325822:R422W	ENSP00000325822:R422W	R	-	1	2	CYP11B2	143991082	0.994000	0.37717	0.171000	0.22900	0.001000	0.01503	1.534000	0.36051	0.253000	0.21552	-0.302000	0.09304	CGG		TCGA-FB-A78T-01A-12D-A32N-08	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1	0	0	0	6	474	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	0.964501	5	472	0	97	2		0	0	0	0	99	2	-2.964584	1	1	121412	4	41	1	1	2	3	2.090910	0	0.550000	1.940000	0.557304	0.040000	1.000000e-02	1.000000	0.040000	0.098035	0.040000	0	0.020000	0.080000
ZNF483	158399	broad.mit.edu	37	9	114304261	114304261	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:114304261G>A	ENST00000309235.5	+	6	1204	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	p.R349H(1)		31					GTTCTGAACCGCAAGGAGAAA	0.423000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000309235.5	0	1	hg19	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281994	0.23392	.	.	ENSG00000173258	ENST00000309235	T	0.04917	3.53	4.55	2.71	0.32032	.	0.470780	0.18592	N	0.136701	T	0.01489	0.0048	N	0.00138	-2.015	0.25163	N	0.990339	B	0.18968	0.032	B	0.10450	0.005	T	0.43798	-0.9369	10	0.30854	T	0.27	-6.2832	9.1112	0.36730	0.1807:0.0:0.8193:0.0	.	349	Q8TF39	ZN483_HUMAN	H	349	ENSP00000311679:R349H	ENSP00000311679:R349H	R	+	2	0	ZNF483	113344082	0.000000	0.05858	0.765000	0.31456	0.035000	0.12851	0.761000	0.26489	0.858000	0.35431	-0.150000	0.13652	CGC		TCGA-FB-A78T-01A-12D-A32N-08	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	0	0	0	6	544	0	107	0	0	0	1	0	107	2		0	0	0	0	0	2	1	0.963730	6	537	0	106	2		0	0	0	0	107	2	-2.056923	0	1	121412	4	41	1	1	2	3	2.051407	0	0.550000	1.940000	0.551234	0.030000	0	0.090000	0.040000	0.046073	0.030000	0	0.020000	0.070000
FAM129B	64855	broad.mit.edu	37	9	130271305	130271305	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:130271305C>A	ENST00000373312.3	-	10	1480	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.V410L	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B			25					GTGCTGGACACATCAAATCGC	0.622000																								0							SO:0001583	missense			ENST00000373312.3	0	1	hg19	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695162	0.68386	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.26067	1.76;1.76	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.61218	1.895	0.53688	D	0.999974	D;P;P	0.57899	0.981;0.763;0.763	P;P;P	0.58780	0.845;0.453;0.453	T	0.09707	-1.0662	10	0.25106	T	0.35	-28.7207	16.6857	0.85304	0.0:1.0:0.0:0.0	.	73;410;423	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	L	410;73;423	ENSP00000362411:V410L;ENSP00000362409:V423L	ENSP00000362409:V423L	V	-	1	0	FAM129B	129311126	1.000000	0.71417	0.991000	0.47740	0.708000	0.40852	4.604000	0.61112	2.532000	0.85374	0.561000	0.74099	GTG		TCGA-FB-A78T-01A-12D-A32N-08	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	0	0	0	10	223	0	61	1	9.999889e-01	2	557	0	61	2		0	0	0	0	0	2	0	0.996165	0	221	0	59	2		0	0	0	0	61	2	-12.259800	1	0	0	0		1	1	2	3	2.066662	0	0.550000	1.940000	0.552461	0.160000	7.000000e-02	0.300000	0.160000	0.178680	0.160000	0	0.110000	0.220000
EDF1	8721	broad.mit.edu	37	9	139756786	139756786	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:139756786G>A	ENST00000224073.1	-	5	424	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	EDF1_ENST00000371649.1_3'UTR	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1			1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)			TCCTTTCCCCGGAGCTTGAGG	0.597000																								0							SO:0001583	missense			ENST00000224073.1	0	1	hg19	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836360	0.71373	.	.	ENSG00000107223	ENST00000224073	.	.	.	5.05	3.16	0.36331	Helix-turn-helix type 3 (2);	0.055037	0.85682	D	0.000000	T	0.77246	0.4102	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76982	-0.2757	9	0.87932	D	0	.	8.8018	0.34914	0.0792:0.0:0.771:0.1497	.	133	O60869	EDF1_HUMAN	W	133	.	ENSP00000224073:R133W	R	-	1	2	EDF1	138876607	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.545000	0.67237	0.513000	0.28278	-0.136000	0.14681	CGG		TCGA-FB-A78T-01A-12D-A32N-08	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1	0	0	0	6	723	0	205	1	9.998472e-01	2	2594	0	205	2		0	0	0	0	0	2	1	0.963851	7	714	0	201	2		0	0	0	0	205	2	-2.052955	0	0	0	0		1	1	2	3	2.066662	0	0.550000	1.940000	0.552461	0.020000	0	0.070000	0.040000	0.043684	0.020000	0	0.010000	0.050000
KIAA1432	0	broad.mit.edu	37	9	5720313	5720313	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:5720313A>G	ENST00000414202.2	+	5	763	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	KIAA1432_ENST00000449720.2_Missense_Mutation_p.Q112R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.Q191R|KIAA1432_ENST00000418622.3_Missense_Mutation_p.Q112R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.Q112R|RP11-207C16.4_ENST00000426764.1_RNA	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2						45		Acute lymphoblastic leukemia(23;0.154)			GTAGACCTGCAGTCATCTAGA	0.388000																								0							SO:0001583	missense			ENST00000414202.2	1	1	hg19	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316285	0.60524	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	T;T;T	0.70282	-0.47;-0.47;-0.47	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	L	0.55990	1.75	0.58432	D	0.999999	P;B;P	0.39665	0.682;0.103;0.634	B;B;B	0.36766	0.154;0.034;0.232	T	0.63171	-0.6697	10	0.16896	T	0.51	-13.9966	16.1502	0.81611	1.0:0.0:0.0:0.0	.	112;191;191	B7ZM67;Q4ADV7;G5E932	.;RIC1_HUMAN;.	R	191;191;112;112;112	ENSP00000370943:Q112R;ENSP00000402240:Q112R;ENSP00000398823:Q112R	ENSP00000251879:Q191R	Q	+	2	0	KIAA1432	5710313	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	8.057000	0.89457	2.203000	0.70933	0.460000	0.39030	CAG		TCGA-FB-A78T-01A-12D-A32N-08	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3	1	0	1	166	501	0	160	1	8.702241e-01	5	8	0	160	2		0	0	0	0	0	2	1	1.000000	165	494	0	156	2		0	0	0	0	160	2	-20.000000	1	1	0	0		1	1	2	3	2.046515	0	0.550000	1.940000	0.551234	0.900000	7.800000e-01	1.000000	1.000000	0.907069	0.900000	1	0.840000	0.970000
STAG2	10735	broad.mit.edu	37	X	123181288	123181288	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:123181288A>C	ENST00000371160.1	+	9	1042	c.752A>C	c.(751-753)gAa>gCa	p.E251A	STAG2_ENST00000354548.5_Missense_Mutation_p.E182A|STAG2_ENST00000371157.3_Missense_Mutation_p.E251A|STAG2_ENST00000218089.9_Missense_Mutation_p.E251A|STAG2_ENST00000371145.3_Missense_Mutation_p.E251A|STAG2_ENST00000371144.3_Missense_Mutation_p.E251A|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2			78					TATGAAGCAGAACGGAATAAA	0.338000																								0							SO:0001583	missense			ENST00000371160.1	1	1	hg19	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756245	0.89843	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.58	5.58	0.84498	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.983	D	0.84849	0.0812	10	0.52906	T	0.07	-8.161	14.6793	0.69004	1.0:0.0:0.0:0.0	.	251;251	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	A	251;251;182;251;251;251;251	ENSP00000218089:E251A;ENSP00000397265:E251A;ENSP00000346555:E182A;ENSP00000360202:E251A;ENSP00000360199:E251A;ENSP00000360187:E251A;ENSP00000360186:E251A	ENSP00000218089:E251A	E	+	2	0	STAG2	123008969	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.335000	0.96500	1.847000	0.53656	0.486000	0.48141	GAA		TCGA-FB-A78T-01A-12D-A32N-08	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	1	0	0	19	373	0	79	0	6.573628e-01	0	45	0	79	2		0	0	0	0	0	2	1	0.999991	19	370	0	78	2		0	0	0	0	79	2	-5.002641	1	1	0	0		1	0	1	1			0.550000	1.940000	0.550000	0.170000	1.000000e-01	0.260000	0.180000	0.184186	0.170000	0	0.130000	0.220000
DCAF12L1	139170	broad.mit.edu	37	X	125685938	125685938	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:125685938C>T	ENST00000371126.1	-	1	896	c.654G>A	c.(652-654)gcG>gcA	p.A218A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1			68					TCCGCCACAGCGCCACAGTGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000371126.1	1	1	hg19	CCDS14610.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	1	0	1	83	210	0	101	0	0	0	1	0	101	2		0	0	0	0	0	2	1	1.000000	74	230	0	104	2		0	0	0	0	101	2	-20.000000	1	0	0	0		1	0	1	1			0.550000	1.940000	0.550000	0.990000	8.400000e-01	1.000000	1.000000	0.976239	0.990000	1	0.930000	1.000000
ARHGAP36	158763	broad.mit.edu	37	X	130222630	130222630	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:130222630C>T	ENST00000276211.5	+	12	1860	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	ARHGAP36_ENST00000370921.1_Silent_p.S369S|ARHGAP36_ENST00000370922.1_Silent_p.S493S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36			71					CTGTGCCTTCCGGCACTGCCC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000276211.5	1	1	hg19	CCDS14628.1																																																																																				TCGA-FB-A78T-01A-12D-A32N-08	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	1	0	1	42	120	0	47	0	6.991870e-02	0	2	0	47	2		0	0	0	0	0	2	1	1.000000	42	119	0	47	2		0	0	0	0	47	2	-4.551987	1	1	121408	5	37	1	0	1	1			0.550000	1.940000	0.550000	0.930000	7.100000e-01	1.000000	1.000000	0.920112	0.930000	1	0.810000	1.000000
GPR112	139378	broad.mit.edu	37	X	135487991	135487991	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:135487991G>A	ENST00000394143.1	+	23	9086	c.8795G>A	c.(8794-8796)cGg>cAg	p.R2932Q	GPR112_ENST00000412101.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R2932Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000287534.4_Missense_Mutation_p.R2685Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	p.R2932Q(1)		199	Acute lymphoblastic leukemia(192;0.000127)				AAGACTCGGCGGAAGATGATC	0.458000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000394143.1	0	1	hg19	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883870	0.33255	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.71	-2.74	0.05932	GPCR, family 2-like (1);	.	.	.	.	T	0.28300	0.0699	L	0.39147	1.195	0.09310	N	1	P;B	0.36048	0.534;0.129	B;B	0.33750	0.059;0.169	T	0.13176	-1.0519	9	0.66056	D	0.02	.	13.1032	0.59233	0.6964:0.0:0.3036:0.0	.	2727;2932	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Q	2932;2932;2727;2685;2727	ENSP00000377699:R2932Q;ENSP00000359686:R2932Q;ENSP00000416526:R2727Q;ENSP00000287534:R2685Q;ENSP00000377697:R2727Q	ENSP00000287534:R2685Q	R	+	2	0	GPR112	135315657	0.000000	0.05858	0.001000	0.08648	0.385000	0.30292	-0.544000	0.06077	-0.868000	0.04058	-0.208000	0.12717	CGG		TCGA-FB-A78T-01A-12D-A32N-08	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	0	0	0	5	685	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	0.935561	5	676	0	135	2		0	0	0	0	136	2	-2.165546	0	1	0	0		1	0	1	1			0.550000	1.940000	0.550000	0.020000	0	0.060000	0.020000	0.030667	0.020000	0	0.010000	0.050000
PHKA2	5256	broad.mit.edu	37	X	18929061	18929061	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:18929061G>A	ENST00000379942.4	-	20	2820	c.2155C>T	c.(2155-2157)Ccg>Tcg	p.P719S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)			61	Hepatocellular(33;0.183)				ACTTTAGTCGGCAAAGTCATG	0.363000																								0							SO:0001583	missense			ENST00000379942.4	0	1	hg19	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922393	0.33908	.	.	ENSG00000044446	ENST00000379942	D	0.90563	-2.69	5.75	5.75	0.90469	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	L	0.60455	1.87	0.58432	D	0.999996	B	0.24576	0.106	B	0.36378	0.223	D	0.86944	0.2081	10	0.26408	T	0.33	-10.3521	17.078	0.86591	0.0:0.0:1.0:0.0	.	719	P46019	KPB2_HUMAN	S	719	ENSP00000369274:P719S	ENSP00000369274:P719S	P	-	1	0	PHKA2	18838982	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	6.010000	0.70753	2.412000	0.81896	0.600000	0.82982	CCG		TCGA-FB-A78T-01A-12D-A32N-08	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	0	0	0	5	426	0	134	0	1.393399e-01	0	46	0	134	2		0	0	0	0	0	2	1	0.937502	5	425	0	133	2		0	0	0	0	134	2	-2.109078	0	1	0	0		1	0	1	1			0.550000	1.940000	0.550000	0.040000	0	0.090000	0.040000	0.050128	0.040000	0	0.020000	0.070000
MAGEB6	158809	broad.mit.edu	37	X	26213152	26213152	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:26213152G>C	ENST00000379034.1	+	2	1338	c.1189G>C	c.(1189-1191)Gat>Cat	p.D397H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6			33					CGCTTTGATAGATGAGGTAGA	0.502000																								0							SO:0001583	missense			ENST00000379034.1	1	1	hg19	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906303	0.33628	.	.	ENSG00000176746	ENST00000379034	T	0.02837	4.14	3.29	2.4	0.29515	.	0.345998	0.25771	U	0.028418	T	0.12347	0.0300	M	0.83012	2.62	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.02860	-1.1101	10	0.87932	D	0	.	6.0678	0.19873	0.1475:0.0:0.8525:0.0	.	397	Q8N7X4	MAGB6_HUMAN	H	397	ENSP00000368320:D397H	ENSP00000368320:D397H	D	+	1	0	MAGEB6	26123073	0.020000	0.18652	0.001000	0.08648	0.001000	0.01503	1.154000	0.31688	0.742000	0.32697	0.594000	0.82650	GAT		TCGA-FB-A78T-01A-12D-A32N-08	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	1	0	1	184	366	0	195		0	0	0	0	195	2		0	0	0	0	0	2	1	1.000000	182	362	0	192	2		0	0	0	0	195	2	-20.000000	1	1	0	0		1	0	1	1			0.550000	1.940000	0.550000	0.990000	9.900000e-01	1.000000	1.000000	0.999978	0.990000	1	0.990000	1.000000
