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
TP53	7157	broad.mit.edu	37	17	7578484	7578485	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:7578484_7578485insA	ENST00000269305.4	-	5	634_635	c.445_446insT	c.(445-447)tccfs	p.S149fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S149fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S149fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.0?(8)|p.S149F(6)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CGGGGGTGTGGAATCAACCCAC	0.604000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	35	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(5)|Deletion - In frame(3)|Complex - deletion inframe(1)						SO:0001589	frameshift_variant	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1																																																																																				TCGA-HZ-A77P-01A-11D-A33T-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	28	337	0	52	0	9.827555e-01	0	80	0	52	2	1	1	244	1968	0	1622	2	1	1.000000	28	329	0	51	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.787065	1	0.220000	1.990000	0.123596	0.610000	0.420000	0.840000	0.610000	0.626332	0.610000	0	5.100000e-01	7.300000e-01
CEP350	9857	broad.mit.edu	37	1	179989588	179989594	+	Frame_Shift_Del	DEL	TCAGAAG	TCAGAAG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989588_179989594delTCAGAAG	ENST00000367607.3	+	12	3097_3103	c.2679_2685delTCAGAAG	c.(2677-2685)attcagaagfs	p.IQK893fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa			66					CTGCCAGAATTCAGAAGATGCTGGGAA	0.425000																								0							SO:0001589	frameshift_variant			ENST00000367607.3	1	1	hg19	CCDS1336.1																																																																																				TCGA-HZ-A77P-01A-11D-A33T-08	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	1	0	0	42	497	0	83	0	1.869187e-01	0	10	0	83	2			0	0	0	0		1	1.000000	51	497	0	83	2	0	0	0	0	0	0		-3.221883	1	1	0	0		1	1	2	3	2.016180	0	0.220000	1.990000	0.225114	0.710000	0.520000	1.000000	0.710000	0.735397	0.710000	0	6.100000e-01	8.500000e-01
KCNIP2	30819	broad.mit.edu	37	10	103590842	103590842	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:103590842G>A	ENST00000356640.2	-	2	431	c.156C>T	c.(154-156)ccC>ccT	p.P52P	KCNIP2_ENST00000370046.1_Intron|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000461105.1_Silent_p.P52P|KCNIP2_ENST00000358038.3_Silent_p.P52P|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000348850.5_Intron	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2			11		Colorectal(252;0.122)			CACTGACTGAGGGCAGGGCTT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000356640.2	0	1	hg19	CCDS7522.1																																																																																				TCGA-HZ-A77P-01A-11D-A33T-08	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1	1	0	1	19	119	0	16	0	0	0	1	0	16	2		0	0	0	0	0	2	1	0.999993	19	116	0	16	2		0	0	0	0	16	2	-20.000000	1	1	0	0		1	1	2	3	2.021251	0	0.220000	1.990000	0.225960	0.990000	0.800000	1.000000	1.000000	0.985020	0.990000	1	9.900000e-01	1
SVIL	6840	broad.mit.edu	37	10	29822208	29822208	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:29822208G>A	ENST00000355867.4	-	8	1840	c.1088C>T	c.(1087-1089)cCa>cTa	p.P363L	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.P363L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin			112		Breast(68;0.103)			GCCACGGATTGGCTGTCGTGT	0.557000																								0							SO:0001583	missense			ENST00000355867.4	1	1	hg19	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222354	0.58560	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.50277	0.75;0.75	5.85	4.01	0.46588	.	0.127449	0.51477	N	0.000083	T	0.50394	0.1613	M	0.71581	2.175	0.80722	D	1	P	0.51933	0.949	P	0.45310	0.476	T	0.51710	-0.8671	9	.	.	.	-7.9583	12.1685	0.54144	0.137:0.0:0.863:0.0	.	363	O95425	SVIL_HUMAN	L	363	ENSP00000364547:P363L;ENSP00000348128:P363L	.	P	-	2	0	SVIL	29862214	0.999000	0.42202	0.113000	0.21522	0.654000	0.38779	2.965000	0.49200	0.823000	0.34589	0.655000	0.94253	CCA		TCGA-HZ-A77P-01A-11D-A33T-08	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1	1	0	0	39	343	0	60	0	1	0	285	0	60	2		0	0	0	0	0	2	1	1.000000	39	343	0	58	2		0	0	0	0	60	2	-3.221884	1	1	0	0		1	1	2	3	2.006060	0	0.220000	1.990000	0.221712	0.930000	0.670000	1.000000	1.000000	0.909164	0.930000	1	7.900000e-01	1
CUL2	8453	broad.mit.edu	37	10	35317808	35317808	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:35317808G>A	ENST00000374748.1	-	17	1860	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V	CUL2_ENST00000602371.1_Missense_Mutation_p.A459V|CUL2_ENST00000374751.3_Missense_Mutation_p.A516V|CUL2_ENST00000374742.1_Missense_Mutation_p.A516V|CUL2_ENST00000374749.3_Missense_Mutation_p.A516V|CUL2_ENST00000374746.1_Missense_Mutation_p.A516V|CUL2_ENST00000537177.1_Missense_Mutation_p.A535V			Q13617	CUL2_HUMAN	cullin 2			31					AAGAGGCCACGCACCAGCCTA	0.318000																								0							SO:0001583	missense			ENST00000374748.1	1	1	hg19	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511389	0.96386	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.77	5.77	0.91146	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.84745	0.5540	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.995	D	0.84150	0.0422	10	0.59425	D	0.04	-21.1493	20.3626	0.98863	0.0:0.0:1.0:0.0	.	516;535;516	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	V	516;516;516;516;459;516;535	ENSP00000363883:A516V;ENSP00000363880:A516V;ENSP00000363878:A516V;ENSP00000363881:A516V;ENSP00000363874:A516V;ENSP00000444856:A535V	ENSP00000363874:A516V	A	-	2	0	CUL2	35357814	1.000000	0.71417	0.975000	0.42487	0.987000	0.75469	9.864000	0.99589	2.885000	0.99019	0.655000	0.94253	GCG		TCGA-HZ-A77P-01A-11D-A33T-08	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	1	0	1	25	201	0	36	1	9.895377e-01	2	59	0	36	2		0	0	0	0	0	2	1	1.000000	25	200	0	36	2		0	0	0	0	36	2	-11.057850	1	1	0	0		1	1	2	3	2.006060	0	0.220000	1.990000	0.221712	0.990000	0.670000	1.000000	1.000000	0.937111	0.990000	1	8.300000e-01	1
ARNTL	406	broad.mit.edu	37	11	13408297	13408297	+	Silent	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:13408297G>T	ENST00000403290.1	+	20	2230	c.1875G>T	c.(1873-1875)ccG>ccT	p.P625P	ARNTL_ENST00000403510.3_Silent_p.P581P|ARNTL_ENST00000401424.1_Silent_p.P582P|ARNTL_ENST00000403482.3_Silent_p.P623P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000361003.4_Silent_p.P507P|ARNTL_ENST00000396441.3_Silent_p.P624P|ARNTL_ENST00000389707.4_Silent_p.P624P			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like			20					TGCCATGGCCGCTGTAAACAC	0.468000																								0							SO:0001819	synonymous_variant			ENST00000403290.1	1	1	hg19																																																																																					TCGA-HZ-A77P-01A-11D-A33T-08	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	1	0	0	40	450	0	52	1	7.617485e-01	3	30	0	52	2		0	0	0	0	0	2	1	1.000000	40	448	0	52	2		0	0	0	0	52	2	-3.221883	1	1	0	0		1	1	2	3	2.008733	0	0.220000	1.990000	0.223417	0.740000	0.540000	1.000000	0.730000	0.761516	0.740000	0	6.400000e-01	8.800000e-01
PAX6	5080	broad.mit.edu	37	11	31823124	31823124	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:31823124G>A	ENST00000379132.3	-	5	622	c.342C>T	c.(340-342)aaC>aaT	p.N114N	PAX6_ENST00000419022.1_Silent_p.N128N|PAX6_ENST00000379107.2_Silent_p.N128N|PAX6_ENST00000379115.4_Silent_p.N128N|PAX6_ENST00000241001.8_Silent_p.N114N|PAX6_ENST00000379129.2_Silent_p.N128N|PAX6_ENST00000379123.5_Silent_p.N114N|PAX6_ENST00000379111.2_Silent_p.N114N|PAX6_ENST00000533156.1_5'Flank			P26367	PAX6_HUMAN	paired box 6			35	Lung SC(675;0.225)				GTATGTTATCGTTGGTACAGA	0.512000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation															0							SO:0001819	synonymous_variant	Familial Cancer Database	WAGR syndrome	ENST00000379132.3	1	1	hg19	CCDS31451.1																																																																																				TCGA-HZ-A77P-01A-11D-A33T-08	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	1	0	1	46	371	0	48	0	2.679514e-01	0	9	0	48	2		0	0	0	0	0	2	1	1.000000	46	368	0	48	2		0	0	0	0	48	2	-20.000000	1	1	0	0		1	1	2	3	2.008733	0	0.220000	1.990000	0.223417	0.990000	0.750000	1.000000	1.000000	0.953550	0.990000	1	8.700000e-01	1
HSD17B12	51144	broad.mit.edu	37	11	43852525	43852525	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:43852525G>T	ENST00000278353.4	+	7	620		c.e7-1		RP11-613D13.5_ENST00000524643.1_RNA|HSD17B12_ENST00000529261.1_Splice_Site|RP11-613D13.5_ENST00000499066.2_RNA|RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12			10					CTCTCTTGCAGATGACACAAT	0.428000													Ovarian(58;548 1143 13948 16572 34258)											0							SO:0001630	splice_region_variant			ENST00000278353.4	1	1	hg19	CCDS7905.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108041	0.77096	.	.	ENSG00000149084	ENST00000531185;ENST00000278353	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSD17B12	43809101	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.590000	0.82653	2.937000	0.99478	0.650000	0.86243	.		TCGA-HZ-A77P-01A-11D-A33T-08	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1	1	0	0	35	416	0	64	0	2.769610e-01	1	12	0	64	2		0	0	0	0	0	2	1	1.000000	35	411	0	64	2		0	0	0	0	64	2	-3.221883	1	1	0	0		1	1	2	3	2.008733	0	0.220000	1.990000	0.223417	0.710000	0.500000	1.000000	0.700000	0.727512	0.710000	0	6.000000e-01	8.500000e-01
OR4A47	403253	broad.mit.edu	37	11	48510911	48510911	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:48510911C>A	ENST00000446524.1	+	1	643	c.567C>A	c.(565-567)gaC>gaA	p.D189E		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47			29					TCTGCACTGACACCCATGCTA	0.438000																								0							SO:0001583	missense			ENST00000446524.1	1	1	hg19	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	8.025	0.760507	0.15914	.	.	ENSG00000237388	ENST00000446524	T	0.00227	8.5	4.59	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.222293	0.31415	N	0.007693	T	0.00300	0.0009	M	0.88105	2.93	0.18873	N	0.999985	B	0.23442	0.085	B	0.28784	0.094	T	0.31308	-0.9948	10	0.72032	D	0.01	.	8.1997	0.31417	0.0:0.728:0.0:0.272	.	189	Q6IF82	O4A47_HUMAN	E	189	ENSP00000412752:D189E	ENSP00000412752:D189E	D	+	3	2	OR4A47	48467487	0.229000	0.23729	0.652000	0.29579	0.089000	0.18198	-0.085000	0.11250	0.911000	0.36747	0.205000	0.17691	GAC		TCGA-HZ-A77P-01A-11D-A33T-08	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	1	0	0	71	706	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1.000000	71	698	0	91	2		0	0	0	0	91	2	-18.922180	1	1	0	0		1	1	2	3	2.008733	0	0.220000	1.990000	0.223417	0.830000	0.650000	1.000000	1.000000	0.842556	0.830000	0	7.400000e-01	9.400000e-01
SIPA1	6494	broad.mit.edu	37	11	65408965	65408965	+	Silent	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:65408965C>T	ENST00000394224.3	+	2	869	c.573C>T	c.(571-573)aaC>aaT	p.N191N	SIPA1_ENST00000394227.3_Silent_p.N191N|SIPA1_ENST00000534313.1_Silent_p.N191N|SIPA1_ENST00000527525.1_Silent_p.N191N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1			10					CACTGCCCAACGCGGCCGTGT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000394224.3	1	1	hg19	CCDS8108.1																																																																																				TCGA-HZ-A77P-01A-11D-A33T-08	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	1	0	0	34	389	0	52	0	9.439446e-01	0	57	0	52	2		0	0	0	0	0	2	1	1.000000	34	386	0	52	2		0	0	0	0	52	2	-20.000000	1	1	121338	6	36	1	1	4	5	2.665389	1	0.220000	1.990000	0.413534	0.970000	0.690000	1.000000	1.000000	0.931520	0.970000	1	8.200000e-01	1
PDE3A	5139	broad.mit.edu	37	12	20801641	20801641	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:20801641G>A	ENST00000359062.3	+	13	2625	c.2585G>A	c.(2584-2586)cGt>cAt	p.R862H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited			58	Esophageal squamous(101;0.125)	Breast(259;0.134)		Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TATAACGATCGTTCAGTTTTG	0.363000																								0							SO:0001583	missense			ENST00000359062.3	1	1	hg19	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017327	0.93404	.	.	ENSG00000172572	ENST00000359062	D	0.81908	-1.55	5.76	5.76	0.90799	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.097634	0.64402	D	0.000001	D	0.91988	0.7462	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92298	0.5847	10	0.87932	D	0	.	19.9617	0.97254	0.0:0.0:1.0:0.0	.	862	Q14432	PDE3A_HUMAN	H	862	ENSP00000351957:R862H	ENSP00000351957:R862H	R	+	2	0	PDE3A	20692908	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.412000	0.97347	2.722000	0.93159	0.650000	0.86243	CGT		TCGA-HZ-A77P-01A-11D-A33T-08	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	1	59	537	0	91	0	9.583613e-01	0	48	0	91	2		0	0	0	0	0	2	1	1.000000	58	533	0	91	2		0	0	0	0	91	2	-18.046600	1	1	0	0		1	0	1	1	1.999210	0	0.220000	1.990000	0.218280	0.890000	0.690000	1.000000	1.000000	0.891801	0.890000	1	7.800000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	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	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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-HZ-A77P-01A-11D-A33T-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	9	116	0	18	1	3.854232e-01	3	14	0	18	2	1	9.999993e-01	38	470	0	438	2	1	0.994774	9	116	0	18	2	1	1	1231	6779	0	18	2	-5.633668	1	1	0	0		1	0	1	1	1.999210	0	0.220000	1.990000	0.218280	0.660000	0.330000	1.000000	1.000000	0.683693	0.660000	0	4.800000e-01	8.900000e-01
ADAMTS20	80070	broad.mit.edu	37	12	43847747	43847747	+	Missense_Mutation	SNP	C	C	T	rs150619594		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:43847747C>T	ENST00000389420.3	-	12	1722	c.1723G>A	c.(1723-1725)Gga>Aga	p.G575R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G575R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20			95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)			CTTTCGATTCCGCCTCCACAT	0.418000																								0							SO:0001583	missense			ENST00000389420.3	0	1	hg19	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774087	0.90108	2.27E-4	0.0	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.83673	-1.75;-1.75	4.77	4.77	0.60923	.	0.279795	0.24949	N	0.034312	D	0.94847	0.8335	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96742	0.9547	10	0.87932	D	0	.	18.6648	0.91485	0.0:1.0:0.0:0.0	.	575	P59510	ATS20_HUMAN	R	575	ENSP00000374071:G575R;ENSP00000448341:G575R	ENSP00000374068:G575R	G	-	1	0	ADAMTS20	42134014	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.196000	0.77805	2.586000	0.87340	0.585000	0.79938	GGA		TCGA-HZ-A77P-01A-11D-A33T-08	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	0	0	0	7	83	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	0.980503	7	81	0	21	2		0	0	0	0	21	2	-11.690400	1	1	121388	3	33	1	0	1	1	1.999210	0	0.220000	1.990000	0.218280	0.720000	0.330000	1.000000	1.000000	0.729536	0.720000	0	5.000000e-01	1
FGF23	8074	broad.mit.edu	37	12	4479899	4479899	+	Silent	SNP	G	G	A	rs145147639		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:4479899G>A	ENST00000237837.1	-	3	511	c.366C>T	c.(364-366)aaC>aaT	p.N122N		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23			22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		CGTCGTACCCGTTTTCCAGCG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000237837.1	1	1	hg19	CCDS8526.1																																																																																				TCGA-HZ-A77P-01A-11D-A33T-08	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1	1	0	1	78	665	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1.000000	78	654	0	110	2		0	0	0	0	112	2	-19.999930	1	1	121410	2	34	1	0	1	1	1.991977	0	0.220000	1.990000	0.215686	0.940000	0.750000	1.000000	1.000000	0.931910	0.940000	1	8.400000e-01	1
COL2A1	1280	broad.mit.edu	37	12	48367243	48367243	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:48367243C>T	ENST00000380518.3	-	54	4575	c.4411G>A	c.(4411-4413)Gga>Aga	p.G1471R	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1402R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1			64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)		Collagenase(DB00048)	TCGGGCCCTCCTATGTCCATG	0.527000																								0							SO:0001583	missense			ENST00000380518.3	1	1	hg19	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940351	0.73557	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.78126	-1.15;-1.15	4.65	4.65	0.58169	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.91112	0.7202	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93677	0.6995	10	0.87932	D	0	.	17.4825	0.87677	0.0:1.0:0.0:0.0	.	1402;1471	P02458-1;P02458	.;CO2A1_HUMAN	R	1471;1402;1402	ENSP00000369889:G1471R;ENSP00000338213:G1402R	ENSP00000338213:G1402R	G	-	1	0	COL2A1	46653510	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.725000	0.84808	2.274000	0.75844	0.561000	0.74099	GGA		TCGA-HZ-A77P-01A-11D-A33T-08	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	1	0	1	64	542	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1.000000	62	539	0	78	2		0	0	0	0	78	2	-2.774725	1	1	0	0		1	0	1	1	1.999210	0	0.220000	1.990000	0.218280	0.950000	0.740000	1.000000	1.000000	0.934226	0.950000	1	8.400000e-01	1
KRT86	3892	broad.mit.edu	37	12	52695732	52695732	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:52695732C>A	ENST00000423955.2	+	3	210	c.32C>A	c.(31-33)gCc>gAc	p.A11D	KRT86_ENST00000293525.5_Missense_Mutation_p.A11D|KRT86_ENST00000544024.1_Missense_Mutation_p.A11D			O43790	KRT86_HUMAN	keratin 86			10					GGTGGCCGCGCCTTCAGCTGC	0.667000																								0							SO:0001583	missense			ENST00000423955.2	0	1	hg19	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225010	0.39300	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.81330	-1.48;-1.48;-1.48	5.01	5.01	0.66863	.	1.824800	0.03602	U	0.233611	T	0.75064	0.3799	L	0.27053	0.805	0.34929	D	0.749164	B	0.06786	0.001	B	0.04013	0.001	T	0.58411	-0.7641	10	0.56958	D	0.05	.	11.9409	0.52901	0.0:0.8097:0.1903:0.0	.	11	O43790	KRT86_HUMAN	D	11	ENSP00000443169:A11D;ENSP00000444533:A11D;ENSP00000293525:A11D	ENSP00000293525:A11D	A	+	2	0	AC021066.1;KRT86	50981999	0.630000	0.27155	0.988000	0.46212	0.777000	0.43975	0.609000	0.24238	2.320000	0.78422	0.643000	0.83706	GCC		TCGA-HZ-A77P-01A-11D-A33T-08	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	0	0	0	12	576	0	68	0	5.219536e-04	0	2	0	68	2		0	0	0	0	0	2	1	0.999080	12	571	0	67	2		0	0	0	0	68	2	-3.365024	1	1	121260	1	32	1	0	1	1	1.999210	0	0.220000	1.990000	0.218280	0.180000	0.090000	0.310000	0.180000	0.198654	0.180000	0	1.300000e-01	2.500000e-01
FRY	10129	broad.mit.edu	37	13	32783787	32783787	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:32783787A>T	ENST00000380250.3	+	33	4837	c.4341A>T	c.(4339-4341)aaA>aaT	p.K1447N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)			132		Lung SC(185;0.0271)			ACAATGAGAAATGGAGCAACA	0.463000																								0							SO:0001583	missense			ENST00000380250.3	1	1	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827518	0.50845	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23754	1.89	5.48	-6.97	0.01616	.	0.048340	0.85682	D	0.000000	T	0.15609	0.0376	N	0.22421	0.69	0.58432	D	0.999997	B	0.33345	0.409	B	0.38755	0.281	T	0.03335	-1.1047	10	0.18710	T	0.47	.	16.3704	0.83355	0.4617:0.0:0.5383:0.0	.	1447	Q5TBA9	FRY_HUMAN	N	1447;284	ENSP00000369600:K1447N	ENSP00000369600:K1447N	K	+	3	2	FRY	31681787	0.173000	0.23056	0.847000	0.33407	0.862000	0.49288	-0.307000	0.08167	-1.244000	0.02516	-0.379000	0.06801	AAA		TCGA-HZ-A77P-01A-11D-A33T-08	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	0	0	1	93	464	0	70	0	4.603075e-01	1	8	0	70	2		0	0	0	0	0	2	1	1.000000	91	460	0	70	2		0	0	0	0	70	2	-20.000000	1	1	0	0		1	1	2	3	2.223144	1	0.220000	1.990000	0.297297	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESR2	2100	broad.mit.edu	37	14	64727336	64727336	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr14:64727336G>A	ENST00000341099.4	-	5	1200	c.783C>T	c.(781-783)gaC>gaT	p.D261D	ESR2_ENST00000357782.2_Silent_p.D261D|ESR2_ENST00000557772.1_Silent_p.D261D|ESR2_ENST00000267525.6_Silent_p.D261D|ESR2_ENST00000353772.3_Silent_p.D261D|ESR2_ENST00000542956.1_Silent_p.D261D|ESR2_ENST00000555278.1_Silent_p.D261D|ESR2_ENST00000553796.1_Silent_p.D261D|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Silent_p.D261D|ESR2_ENST00000554572.1_Silent_p.D261D	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	p.D261D(2)		23				Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GGCTCAGGGCGTCCAGCAGCA	0.682000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000341099.4	1	1	hg19	CCDS9762.1																																																																																				TCGA-HZ-A77P-01A-11D-A33T-08	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1	1	0	1	78	272	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	1.000000	75	268	0	63	2		0	0	0	0	63	2	-4.189801	1	1	121288	3	34	1	0	1	1	1.989380	1	0.220000	1.990000	0.123596	0.980000	0.910000	1.000000	0.990000	0.980654	0.980000	1	9.500000e-01	1
MKL2	57496	broad.mit.edu	37	16	14280893	14280893	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:14280893G>T	ENST00000341243.5	+	1	121		c.e1+1		MKL2_ENST00000571589.1_Intron|MKL2_ENST00000572567.1_Splice_Site|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2			42					CTCAAGGAAGGTCAGTCTGTC	0.478000																								0							SO:0001630	splice_region_variant			ENST00000341243.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.48	3.633236	0.67015	.	.	ENSG00000186260	ENST00000389126;ENST00000341243	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9209	0.92525	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MKL2	14188394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.420000	0.73349	2.884000	0.98904	0.655000	0.94253	.		TCGA-HZ-A77P-01A-11D-A33T-08	MKL2-202	KNOWN	basic	protein_coding	protein_coding		0	0	0	10	95	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	0.997345	10	95	0	19	2		0	0	0	0	20	2	-16.563630	1	1	0	0		1	1	2	3	2.004797	0	0.220000	1.990000	0.221712	0.880000	0.460000	1.000000	1.000000	0.842927	0.880000	1	6.400000e-01	1
WWP2	11060	broad.mit.edu	37	16	69951707	69951707	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:69951707G>A	ENST00000359154.2	+	10	1201	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	WWP2_ENST00000542271.1_Missense_Mutation_p.R251H|WWP2_ENST00000356003.2_Missense_Mutation_p.R367H|WWP2_ENST00000448661.1_Missense_Mutation_p.R367H|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2			42					GAGTACGTGCGCAACTATGAG	0.592000																								0							SO:0001583	missense			ENST00000359154.2	0	1	hg19	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217011	0.95104	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.34072	1.4;1.4;1.4;1.38	5.72	4.77	0.60923	.	0.102760	0.64402	D	0.000006	T	0.55641	0.1933	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	P	0.59825	0.864	T	0.59177	-0.7503	9	.	.	.	.	14.8283	0.70130	0.0689:0.0:0.9311:0.0	.	367	O00308	WWP2_HUMAN	H	367;367;367;254;251	ENSP00000352069:R367H;ENSP00000396871:R367H;ENSP00000348283:R367H;ENSP00000445616:R251H	.	R	+	2	0	WWP2	68509208	1.000000	0.71417	0.931000	0.37212	0.958000	0.62258	9.869000	0.99810	1.417000	0.47077	0.655000	0.94253	CGC		TCGA-HZ-A77P-01A-11D-A33T-08	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	0	0	0	5	308	0	24	0	2.673187e-01	0	53	0	24	2	1	9.986635e-01	2	934	0	700	2	1	0.936974	5	306	0	24	2		0	0	0	0	24	2	-4.333833	1	0	121410	3	36	1	1	2	3	2.004797	0	0.220000	1.990000	0.221712	0.150000	0.050000	0.350000	0.140000	0.179715	0.150000	0	9.000000e-02	2.400000e-01
UBB	7314	broad.mit.edu	37	17	16285438	16285438	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:16285438C>G	ENST00000395837.1	+	2	398	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	UBB_ENST00000395839.1_Missense_Mutation_p.L73V|UBB_ENST00000535788.1_Missense_Mutation_p.L73V|UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Missense_Mutation_p.L73V	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B			16					GGTCCTGCGTCTGAGAGGTGG	0.547000													Melanoma(163;1126 3406 34901)											0							SO:0001583	missense			ENST00000395837.1	1	1	hg19	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999368	0.35226	.	.	ENSG00000170315	ENST00000302182;ENST00000535788;ENST00000395839;ENST00000395837	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.05	4.05	0.47172	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.42420	U	0.000711	T	0.79347	0.4430	M	0.88181	2.935	0.80722	D	1	B	0.10296	0.003	B	0.20955	0.032	T	0.81180	-0.1050	10	0.87932	D	0	.	15.641	0.77001	0.0:1.0:0.0:0.0	.	73	P0CG47	UBB_HUMAN	V	73	ENSP00000304697:L73V;ENSP00000437475:L73V;ENSP00000379180:L73V;ENSP00000379178:L73V	ENSP00000304697:L73V	L	+	1	2	UBB	16226163	1.000000	0.71417	0.926000	0.36857	0.847000	0.48162	4.164000	0.58190	1.989000	0.58080	0.644000	0.83932	CTG		TCGA-HZ-A77P-01A-11D-A33T-08	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	1	0	0	52	385	0	87	1	1	734	5595	0	87	2		0	0	0	0	0	2	1	1.000000	46	311	0	97	2		0	0	0	0	87	2	-20.000000	1	1	0	0		1	0	1	1	1.787065	1	0.220000	1.990000	0.123596	0.890000	0.700000	1.000000	0.950000	0.889295	0.890000	1	8.000000e-01	9.700000e-01
LRRC45	201255	broad.mit.edu	37	17	79983019	79983019	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:79983019T>G	ENST00000306688.3	+	4	839	c.497T>G	c.(496-498)cTa>cGa	p.L166R	STRA13_ENST00000306704.6_5'Flank|STRA13_ENST00000392359.3_5'Flank|STRA13_ENST00000583767.1_5'Flank|LRRC45_ENST00000583383.1_3'UTR|STRA13_ENST00000580435.1_5'Flank|STRA13_ENST00000584347.1_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45			5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		GAGCTGGCCCTAGCCCTGAAG	0.687000																								0							SO:0001583	missense			ENST00000306688.3	0	1	hg19	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.085981	0.55861	.	.	ENSG00000169683	ENST00000306688	T	0.51817	0.69	3.85	2.75	0.32379	.	0.387055	0.24833	N	0.035239	T	0.36248	0.0960	N	0.04373	-0.215	0.36634	D	0.876484	D	0.53462	0.96	P	0.59424	0.857	T	0.32107	-0.9919	9	.	.	.	-12.8284	8.6719	0.34156	0.0:0.0939:0.0:0.9061	.	166	Q96CN5	LRC45_HUMAN	R	166	ENSP00000306760:L166R	.	L	+	2	0	LRRC45	77576308	1.000000	0.71417	0.999000	0.59377	0.468000	0.32798	3.635000	0.54309	1.530000	0.49136	0.460000	0.39030	CTA		TCGA-HZ-A77P-01A-11D-A33T-08	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	1	0	1	13	106	0	16	1	8.692702e-01	9	23	0	16	2		0	0	0	0	0	2	1	0.999614	13	105	0	16	2		0	0	0	0	16	2	-19.890940	1	1	0	0		1	1	2	3	2.013756	0	0.220000	1.990000	0.224267	0.990000	0.570000	1.000000	1.000000	0.915341	0.990000	1	7.700000e-01	1
TCF4	6925	broad.mit.edu	37	18	53017618	53017618	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:53017618C>T	ENST00000356073.4	-	8	1132	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	TCF4_ENST00000398339.1_Missense_Mutation_p.R276Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R174Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R174Q|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000568740.1_Missense_Mutation_p.R149Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R172Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R44Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R150Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R174Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R150Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R44Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R132Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R44Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R150Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R103Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R103Q|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000354452.3_Missense_Mutation_p.R174Q	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4			41					AGGAACTTTTCGAACTTTCTT	0.368000																								0							SO:0001583	missense			ENST00000356073.4	1	1	hg19	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347222	0.82022	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.48	5.48	0.80851	.	0.105285	0.42172	D	0.000742	T	0.69269	0.3092	M	0.71036	2.16	0.35708	D	0.816131	D;P;D;D;P;D;D	0.62365	0.991;0.938;0.991;0.984;0.88;0.973;0.973	P;B;P;P;B;P;B	0.47376	0.545;0.346;0.545;0.465;0.115;0.545;0.406	T	0.79983	-0.1573	10	0.87932	D	0	-15.0974	18.1047	0.89516	0.0:1.0:0.0:0.0	.	150;174;150;276;174;132;103	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	Q	174;174;132;150;150;103;44;276	ENSP00000346440:R174Q;ENSP00000348374:R174Q;ENSP00000439656:R132Q;ENSP00000445202:R150Q;ENSP00000440731:R150Q;ENSP00000441562:R103Q;ENSP00000439827:R44Q;ENSP00000381382:R276Q	ENSP00000346440:R174Q	R	-	2	0	TCF4	51168616	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.985000	0.70556	2.582000	0.87167	0.491000	0.48974	CGA		TCGA-HZ-A77P-01A-11D-A33T-08	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	1	0	1	36	218	0	49	0	8.348268e-01	0	22	0	49	2		0	0	0	0	0	2	1	1.000000	36	214	0	49	2		0	0	0	0	49	2	-3.322927	1	1	0	0		1	0	1	1	1.759170	1	0.220000	1.990000	0.123596	0.920000	0.730000	1.000000	0.990000	0.915927	0.920000	1	8.400000e-01	9.800000e-01
EPB41L3	23136	broad.mit.edu	37	18	5419762	5419762	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:5419762C>T	ENST00000341928.2	-	12	1794	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q	EPB41L3_ENST00000540638.2_Missense_Mutation_p.R503Q|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R503Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R485Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R503Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3			105					ccccttcctccgtttgtcctc	0.552000																								0							SO:0001583	missense			ENST00000341928.2	1	1	hg19	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703468	0.30232	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	T;D;T;D	0.82255	-1.37;-1.56;-1.37;-1.59	5.61	4.73	0.59995	.	1.452490	0.04085	N	0.310269	T	0.76723	0.4027	L	0.49126	1.545	0.30694	N	0.751003	P;D;B;P;P	0.54601	0.938;0.967;0.357;0.709;0.535	B;B;B;B;B	0.37267	0.245;0.124;0.038;0.131;0.023	T	0.69209	-0.5205	10	0.40728	T	0.16	.	4.881	0.13679	0.18:0.644:0.0:0.1761	.	503;64;394;503;485	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	Q	485;394;503;394;485;503	ENSP00000343158:R485Q;ENSP00000441174:R503Q;ENSP00000341138:R485Q;ENSP00000382981:R503Q	ENSP00000343158:R485Q	R	-	2	0	EPB41L3	5409762	0.999000	0.42202	0.059000	0.19551	0.335000	0.28730	2.452000	0.44961	1.469000	0.48083	0.655000	0.94253	CGG		TCGA-HZ-A77P-01A-11D-A33T-08	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	1	0	1	47	321	0	47	0	9.961116e-01	0	60	0	47	2		0	0	0	0	0	2	1	1.000000	46	314	0	46	2		0	0	0	0	47	2	-2.966682	1	1	121412	2	40	1	1	2	3	2.029318	0	0.220000	1.990000	0.227646	0.990000	0.880000	1.000000	1.000000	0.991972	0.990000	1	9.900000e-01	1
ANKRD24	170961	broad.mit.edu	37	19	4219626	4219626	+	Silent	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:4219626C>T	ENST00000600132.1	+	19	3318	c.3042C>T	c.(3040-3042)caC>caT	p.H1014H	ANKRD24_ENST00000318934.4_Silent_p.H1014H|ANKRD24_ENST00000262970.5_Silent_p.H1104H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24			21					GTGAGCGACACGCAGCCGAGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000600132.1	1	1	hg19	CCDS45925.1																																																																																				TCGA-HZ-A77P-01A-11D-A33T-08	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	1	0	1	60	497	0	68	0	6.209867e-02	0	4	0	68	2		0	0	0	0	0	2	1	1.000000	60	490	0	67	2		0	0	0	0	68	2	-19.825400	1	1	121320	2	34	1	1	2	3	2.015827	0	0.220000	1.990000	0.225114	0.990000	0.760000	1.000000	1.000000	0.950621	0.990000	1	8.700000e-01	1
MZF1	7593	broad.mit.edu	37	19	59073841	59073841	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:59073841C>G	ENST00000215057.2	-	6	2363	c.1803G>C	c.(1801-1803)gaG>gaC	p.E601D	MZF1_ENST00000599369.1_Missense_Mutation_p.E601D|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1			11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)			GCTGGCCACACTCGGGGCAGG	0.662000																								0							SO:0001583	missense			ENST00000215057.2	0	1	hg19	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300340	0.40694	.	.	ENSG00000099326	ENST00000215057	T	0.32988	1.43	3.21	0.896	0.19253	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.231155	0.22357	N	0.061125	T	0.15869	0.0382	N	0.17594	0.5	0.31431	N	0.673168	B	0.06786	0.001	B	0.09377	0.004	T	0.09509	-1.0671	10	0.37606	T	0.19	-7.1772	7.2841	0.26328	0.1919:0.6218:0.1863:0.0	.	601	P28698	MZF1_HUMAN	D	601	ENSP00000215057:E601D	ENSP00000215057:E601D	E	-	3	2	MZF1	63765653	0.000000	0.05858	0.985000	0.45067	0.990000	0.78478	-1.097000	0.03349	0.320000	0.23234	0.462000	0.41574	GAG		TCGA-HZ-A77P-01A-11D-A33T-08	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	1	0	1	11	75	0	9	1	9.799199e-01	9	40	0	9	2		0	0	0	0	0	2	1	0.998616	11	74	0	9	2		0	0	0	0	9	2	-18.919900	1	1	121282	1	26	1	1	2	3	2.022047	0	0.220000	1.990000	0.225960	0.990000	0.640000	1.000000	1.000000	0.956591	0.990000	1	8.800000e-01	1
ATP1A2	477	broad.mit.edu	37	1	160098814	160098814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:160098814C>T	ENST00000361216.3	+	10	1350	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R421*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide			69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		GGCCCTGTCTCGAATTGCTGG	0.562000																								0							SO:0001587	stop_gained			ENST00000361216.3	0	1	hg19	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	37	6.313929	0.97467	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	.	.	.	4.13	2.17	0.27698	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6931	0.51527	0.322:0.678:0.0:0.0	.	.	.	.	X	421;421;124	.	ENSP00000354490:R421X	R	+	1	2	ATP1A2	158365438	0.565000	0.26610	0.987000	0.45799	0.612000	0.37316	1.260000	0.32968	0.472000	0.27344	0.561000	0.74099	CGA		TCGA-HZ-A77P-01A-11D-A33T-08	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	1	0	0	10	109	0	14	0	9.610789e-01	0	64	0	14	2		0	0	0	0	0	2	1	0.997286	10	109	0	14	2		0	0	0	0	14	2	-15.275600	1	1	0	0		1	1	2	3	2.022475	0	0.220000	1.990000	0.225960	0.800000	0.410000	1.000000	1.000000	0.790910	0.800000	0	5.800000e-01	1
CEP350	9857	broad.mit.edu	37	1	179989235	179989235	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989235G>T	ENST00000367607.3	+	12	2744	c.2326G>T	c.(2326-2328)Gaa>Taa	p.E776*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa			66					TAAGGATTTTGAATCTATTTT	0.403000																								0							SO:0001587	stop_gained			ENST00000367607.3	0	1	hg19	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	42	9.531776	0.99196	.	.	ENSG00000135837	ENST00000367607	.	.	.	6.02	6.02	0.97574	.	0.258735	0.26812	N	0.022367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3137	0.90210	0.0:0.0:1.0:0.0	.	.	.	.	X	776	.	.	E	+	1	0	CEP350	178255858	1.000000	0.71417	0.991000	0.47740	0.696000	0.40369	6.394000	0.73223	2.865000	0.98341	0.655000	0.94253	GAA		TCGA-HZ-A77P-01A-11D-A33T-08	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	1	0	1	61	500	0	88	0	3.411656e-02	1	2	0	88	2		0	0	0	0	0	2	1	1.000000	60	498	0	88	2		0	0	0	0	88	2	-19.806210	1	1	0	0		1	1	2	3	2.016180	0	0.220000	1.990000	0.225114	0.990000	0.770000	1.000000	1.000000	0.955165	0.990000	1	8.800000e-01	1
CEP350	9857	broad.mit.edu	37	1	179989793	179989793	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989793G>C	ENST00000367607.3	+	12	3302	c.2884G>C	c.(2884-2886)Gat>Cat	p.D962H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa			66					TTCTAGCTCTGATATGCAAGC	0.468000																								0							SO:0001583	missense			ENST00000367607.3	1	1	hg19	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593039	0.46214	.	.	ENSG00000135837	ENST00000367607	T	0.14022	2.54	6.02	6.02	0.97574	.	0.124193	0.35585	N	0.003120	T	0.19565	0.0470	L	0.29908	0.895	0.39682	D	0.970914	D;B	0.54397	0.966;0.303	P;B	0.52710	0.707;0.095	T	0.00756	-1.1579	9	.	.	.	.	17.26	0.87067	0.0:0.0:1.0:0.0	.	962;962	E7EU22;Q5VT06	.;CE350_HUMAN	H	962	ENSP00000356579:D962H	.	D	+	1	0	CEP350	178256416	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.938000	0.87678	2.865000	0.98341	0.655000	0.94253	GAT		TCGA-HZ-A77P-01A-11D-A33T-08	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	1	0	1	86	532	0	66	0	2.015626e-01	1	5	0	66	2		0	0	0	0	0	2	1	1.000000	85	524	0	66	2		0	0	0	0	66	2	-3.221904	1	1	0	0		1						0.220000	1.990000									0	0
ZNF648	127665	broad.mit.edu	37	1	182027016	182027016	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:182027016C>T	ENST00000339948.3	-	2	337	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648			40					CCCTCTTTTTCGGCCTCCCCA	0.577000													NSCLC(71;908 1374 5429 20458 35642)											0							SO:0001583	missense			ENST00000339948.3	1	1	hg19	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	5.419	0.262519	0.10294	.	.	ENSG00000179930	ENST00000339948	T	0.07114	3.22	2.76	0.83	0.18854	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46638	-0.9177	9	0.07813	T	0.8	.	9.5485	0.39295	0.0:0.782:0.0:0.218	.	44	Q5T619	ZN648_HUMAN	K	44	ENSP00000344129:E44K	ENSP00000344129:E44K	E	-	1	0	ZNF648	180293639	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.124000	0.10595	-0.031000	0.13781	-1.814000	0.00607	GAA		TCGA-HZ-A77P-01A-11D-A33T-08	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	1	0	1	48	407	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1.000000	48	404	0	65	2		0	0	0	0	65	2	-15.995280	1	1	121412	1	33	1	1	2	3	2.015766	0	0.220000	1.990000	0.225114	0.970000	0.720000	1.000000	1.000000	0.936225	0.970000	1	8.400000e-01	1
FOXD3	27022	broad.mit.edu	37	1	63789346	63789346	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:63789346C>T	ENST00000371116.2	+	1	617	c.617C>T	c.(616-618)cCg>cTg	p.P206L	RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3			5					CCCCGCGAGCCGGGCAACCCG	0.632000													Pancreas(68;276 1750 11966 31252)											0							SO:0001583	missense			ENST00000371116.2	1	1	hg19	CCDS624.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038446	0.75617	.	.	ENSG00000187140	ENST00000371116	D	0.95412	-3.7	2.6	2.6	0.31112	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.96288	0.8789	M	0.72353	2.195	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	D	0.96508	0.9376	10	0.87932	D	0	.	13.9222	0.63940	0.0:1.0:0.0:0.0	.	206	Q9UJU5	FOXD3_HUMAN	L	206	ENSP00000360157:P206L	ENSP00000360157:P206L	P	+	2	0	FOXD3	63561934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.344000	0.44010	1.759000	0.51996	0.460000	0.39030	CCG		TCGA-HZ-A77P-01A-11D-A33T-08	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1	1	0	0	95	779	0	123	0	3.842954e-01	0	12	0	123	2		0	0	0	0	0	2	1	1.000000	92	749	0	116	2		0	0	0	0	123	2	-20.000000	1	1	0	0		1	1	2	3	2.030203	0	0.220000	1.990000	0.227646	0.990000	0.810000	1.000000	1.000000	0.965276	0.990000	1	9.000000e-01	1
DEFB119	245932	broad.mit.edu	37	20	29978252	29978252	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:29978252A>G	ENST00000376321.3	-	1	154	c.35T>C	c.(34-36)cTg>cCg	p.L12P	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_Missense_Mutation_p.L12P|DEFB119_ENST00000376315.2_Missense_Mutation_p.L12P	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119			4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		TTCTATGGCCAGAAGGATGGC	0.547000																								0							SO:0001583	missense			ENST00000376321.3	1	1	hg19	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	A	8.498	0.863675	0.17250	.	.	ENSG00000180483	ENST00000339144;ENST00000376321;ENST00000376315	T;T	0.50277	0.9;0.75	3.56	3.56	0.40772	.	0.251087	0.21123	N	0.079786	T	0.64103	0.2568	.	.	.	0.45066	D	0.998088	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.952;0.98	T	0.66976	-0.5787	9	0.87932	D	0	-10.6634	8.8245	0.35047	1.0:0.0:0.0:0.0	.	12;12;12	Q8N690-2;Q8N690;Q5TH42	.;DB119_HUMAN;.	P	12	ENSP00000365499:L12P;ENSP00000365492:L12P	ENSP00000345768:L12P	L	-	2	0	DEFB119	29441913	0.995000	0.38212	0.957000	0.39632	0.058000	0.15608	3.346000	0.52190	1.865000	0.54081	0.374000	0.22700	CTG		TCGA-HZ-A77P-01A-11D-A33T-08	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	1	0	1	124	571	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1.000000	124	564	0	81	2		0	0	0	0	82	2	-20.000000	1	1	0	0		1	2	2	4	2.293173	1	0.220000	1.990000	0.320202	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SON	6651	broad.mit.edu	37	21	34922087	34922087	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr21:34922087G>T	ENST00000356577.4	+	3	1025	c.550G>T	c.(550-552)Gca>Tca	p.A184S	SON_ENST00000290239.6_Missense_Mutation_p.A184S|SON_ENST00000381679.4_Missense_Mutation_p.A184S|SON_ENST00000300278.4_Missense_Mutation_p.A184S|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein			72					TGAATCCCCTGCAGTTGTGCT	0.448000											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001583	missense			ENST00000356577.4	1	1	hg19	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185090	0.38609	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.14144	2.72;2.71;2.71;2.53	5.77	-1.16	0.09678	.	0.483837	0.19324	N	0.117068	T	0.07324	0.0185	N	0.24115	0.695	0.09310	N	1	P;P;P	0.46859	0.817;0.885;0.794	B;B;B	0.43052	0.23;0.406;0.406	T	0.23119	-1.0197	10	0.62326	D	0.03	.	1.2414	0.01964	0.1591:0.2573:0.3049:0.2787	.	184;184;184	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	S	184	ENSP00000348984:A184S;ENSP00000290239:A184S;ENSP00000300278:A184S;ENSP00000371095:A184S	ENSP00000290239:A184S	A	+	1	0	SON	33843957	0.268000	0.24133	0.147000	0.22382	0.381000	0.30169	0.044000	0.13992	-0.100000	0.12241	0.655000	0.94253	GCA		TCGA-HZ-A77P-01A-11D-A33T-08	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	1	0	1	55	416	0	75	1	9.909461e-01	7	50	0	75	2		0	0	0	0	0	2	1	1.000000	55	415	0	75	2		0	0	0	0	75	2	-19.855490	1	1	0	0		1	1	2	3	2.005489	0	0.220000	1.990000	0.221712	0.990000	0.810000	1.000000	1.000000	0.975696	0.990000	1	9.300000e-01	1
SEZ6L	23544	broad.mit.edu	37	22	26743709	26743709	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:26743709C>T	ENST00000248933.6	+	11	2332	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L	SEZ6L_ENST00000403121.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S746L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S746L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S519L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like			80					GACTCCTGCTCGGATTTACCC	0.517000																								0							SO:0001583	missense			ENST00000248933.6	1	1	hg19	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592053	0.66219	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.88	3.84	0.44239	Complement control module (2);Sushi/SCR/CCP (3);	0.161209	0.29100	N	0.013144	T	0.47764	0.1463	L	0.35487	1.065	0.80722	D	1	B;B;B;P;B;B;B	0.35208	0.429;0.192;0.083;0.49;0.228;0.115;0.115	B;B;B;B;B;B;B	0.28305	0.088;0.08;0.016;0.081;0.081;0.08;0.08	T	0.57136	-0.7863	10	0.72032	D	0.01	.	12.7022	0.57041	0.0:0.9192:0.0:0.0808	.	746;746;519;746;746;746;746	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	L	746;746;746;746;746;519;519	ENSP00000384772:S746L;ENSP00000437037:S746L;ENSP00000354185:S746L;ENSP00000248933:S746L;ENSP00000342661:S746L;ENSP00000384838:S519L;ENSP00000384733:S519L	ENSP00000248933:S746L	S	+	2	0	SEZ6L	25073709	1.000000	0.71417	0.963000	0.40424	0.901000	0.52897	5.529000	0.67135	2.543000	0.85770	0.655000	0.94253	TCG		TCGA-HZ-A77P-01A-11D-A33T-08	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3	1	0	1	43	330	0	38	0	0	0	1	0	38	2		0	0	0	0	0	2	1	1.000000	42	325	0	36	2		0	0	0	0	38	2	-2.966615	1	1	121412	4	37	1	1	2	3	2.015543	0	0.220000	1.990000	0.225114	0.990000	0.780000	1.000000	1.000000	0.969113	0.990000	1	9.100000e-01	1
UGP2	7360	broad.mit.edu	37	2	64117237	64117237	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:64117237T>C	ENST00000337130.5	+	9	1813	c.1337T>C	c.(1336-1338)tTt>tCt	p.F446S	UGP2_ENST00000394417.2_Missense_Mutation_p.F435S|UGP2_ENST00000467648.2_Missense_Mutation_p.F435S|UGP2_ENST00000445915.2_Missense_Mutation_p.F455S	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2			18					CTAAGAAGATTTGAAAGTATA	0.303000																								0							SO:0001583	missense			ENST00000337130.5	1	1	hg19	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.881893	0.91740	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.82	5.82	0.92795	.	0.044427	0.85682	D	0.000000	T	0.59514	0.2199	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72127	-0.4384	10	0.87932	D	0	-9.7442	16.1814	0.81903	0.0:0.0:0.0:1.0	.	455;446	E7EUC7;Q16851	.;UGPA_HUMAN	S	435;435;446;455	ENSP00000377939:F435S;ENSP00000420793:F435S;ENSP00000338703:F446S;ENSP00000411803:F455S	ENSP00000338703:F446S	F	+	2	0	UGP2	63970741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.234000	0.73211	0.533000	0.62120	TTT		TCGA-HZ-A77P-01A-11D-A33T-08	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	1	0	0	28	278	0	34	1	1	30	374	0	34	2		0	0	0	0	0	2	1	1.000000	27	276	0	34	2		0	0	0	0	34	2	-20.000000	1	1	0	0		1	0	1	1	1.995445	0	0.220000	1.990000	0.216553	0.820000	0.560000	1.000000	1.000000	0.829437	0.820000	0	6.800000e-01	9.800000e-01
NFKBIZ	64332	broad.mit.edu	37	3	101574269	101574269	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:101574269C>A	ENST00000326172.5	+	8	1736	c.1621C>A	c.(1621-1623)Cag>Aag	p.Q541K	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.Q441K|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.Q419K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta			24					GGGAAGTAATCAGTTTGTGGA	0.413000																								0							SO:0001583	missense			ENST00000326172.5	1	1	hg19	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294456	0.81025	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.66	5.66	0.87406	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000002	T	0.43919	0.1269	N	0.16708	0.43	0.54753	D	0.99998	P;D	0.53885	0.907;0.963	P;P	0.60682	0.568;0.878	T	0.36065	-0.9763	10	0.42905	T	0.14	-20.6546	19.7324	0.96188	0.0:1.0:0.0:0.0	.	419;541	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	K	441;441;419;541	ENSP00000419800:Q441K;ENSP00000377618:Q441K;ENSP00000325593:Q419K;ENSP00000325663:Q541K	ENSP00000325593:Q419K	Q	+	1	0	NFKBIZ	103056959	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.654000	0.61469	2.663000	0.90544	0.655000	0.94253	CAG		TCGA-HZ-A77P-01A-11D-A33T-08	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	1	0	1	59	458	0	68	1	9.176416e-01	6	28	0	68	2		0	0	0	0	0	2	1	1.000000	59	452	0	68	2		0	0	0	0	68	2	-3.142702	1	1	0	0		1	1	2	3	2.007888	0	0.220000	1.990000	0.223417	0.990000	0.800000	1.000000	1.000000	0.971361	0.990000	1	9.100000e-01	1
MYH15	22989	broad.mit.edu	37	3	108110745	108110745	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:108110745C>A	ENST00000273353.3	-	38	5408	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15			105					TGGTGTCTTGCTTCTTCTTCA	0.428000																								0							SO:0001583	missense			ENST00000273353.3	1	1	hg19	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101562	0.56183	.	.	ENSG00000144821	ENST00000273353	T	0.77489	-1.1	5.62	0.606	0.17559	Myosin tail (1);	.	.	.	.	T	0.65709	0.2717	N	0.19112	0.55	0.34830	D	0.739586	B	0.29671	0.254	B	0.39465	0.3	T	0.65212	-0.6223	9	0.87932	D	0	.	5.9578	0.19283	0.121:0.6092:0.0:0.2698	.	1784	Q9Y2K3	MYH15_HUMAN	N	1784	ENSP00000273353:K1784N	ENSP00000273353:K1784N	K	-	3	2	MYH15	109593435	1.000000	0.71417	0.823000	0.32752	0.870000	0.49936	1.227000	0.32576	0.040000	0.15660	0.655000	0.94253	AAG		TCGA-HZ-A77P-01A-11D-A33T-08	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	0	0	1	88	755	1	114		0	0	0	1	114	2		0	0	0	0	0	2	1	1.000000	89	750	0	114	2		0	0	0	1	114	2	-20.000000	1	1	0	0		1	1	2	3	2.007888	0	0.220000	1.990000	0.223417	0.950000	0.770000	1.000000	1.000000	0.938259	0.950000	1	8.500000e-01	1
SPSB4	92369	broad.mit.edu	37	3	140866041	140866041	+	Missense_Mutation	SNP	G	G	A	rs79933965		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:140866041G>A	ENST00000310546.2	+	3	1496	c.752G>A	c.(751-753)cGc>cAc	p.R251H	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4			4					GCCCTGGGCCGCCAGCGCCTG	0.617000																								0							SO:0001583	missense			ENST00000310546.2	1	1	hg19	CCDS3115.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892680	0.91889	0.0	1.16E-4	ENSG00000175093	ENST00000310546	T	0.47528	0.84	5.67	5.67	0.87782	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.72353	2.195	0.47621	D	0.999479	B	0.31655	0.334	B	0.28011	0.085	T	0.45789	-0.9237	10	0.34782	T	0.22	-25.8085	17.2564	0.87057	0.0:0.0:1.0:0.0	.	251	Q96A44	SPSB4_HUMAN	H	251	ENSP00000311609:R251H	ENSP00000311609:R251H	R	+	2	0	SPSB4	142348731	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.577000	0.82486	2.676000	0.91093	0.561000	0.74099	CGC		TCGA-HZ-A77P-01A-11D-A33T-08	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	1	0	0	27	257	0	48	0	5.078390e-02	0	4	0	48	2		0	0	0	0	0	2	1	1.000000	25	254	0	47	2		0	0	0	0	48	2	-2.774726	1	1	121412	1	32	1	1	2	3	2.007888	0	0.220000	1.990000	0.223417	0.870000	0.590000	1.000000	1.000000	0.864220	0.870000	1	7.200000e-01	1
SCN5A	6331	broad.mit.edu	37	3	38622673	38622673	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:38622673C>T	ENST00000333535.4	-	17	3126	c.2977G>A	c.(2977-2979)Gca>Aca	p.A993T	SCN5A_ENST00000450102.2_Missense_Mutation_p.A993T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A993T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A993T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A993T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A993T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A993T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A993T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A993T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A993T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAAGGGCTGCGGGCTTCTGA	0.692000																								0							SO:0001583	missense			ENST00000333535.4	0	1	hg19	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	2.132	-0.398935	0.04865	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.38	2.53	0.30540	Sodium ion transport-associated (1);	1.066670	0.07154	N	0.849551	T	0.76104	0.3941	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.001;0.002;0.003;0.001;0.001;0.002;0.001	B;B;B;B;B;B;B	0.08055	0.003;0.003;0.002;0.003;0.003;0.003;0.002	T	0.54925	-0.8220	10	0.13853	T	0.58	.	9.7536	0.40490	0.0:0.7672:0.0:0.2328	.	993;993;993;993;993;993;993	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	T	993	ENSP00000398962:A993T;ENSP00000398266:A993T;ENSP00000410257:A993T;ENSP00000388797:A993T;ENSP00000397915:A993T;ENSP00000416634:A993T;ENSP00000328968:A993T;ENSP00000399524:A993T;ENSP00000403355:A993T;ENSP00000413996:A993T	ENSP00000328968:A993T	A	-	1	0	SCN5A	38597677	0.014000	0.17966	0.000000	0.03702	0.045000	0.14185	0.343000	0.19944	0.221000	0.20879	0.561000	0.74099	GCA		TCGA-HZ-A77P-01A-11D-A33T-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1	15	100	0	21	0	1.970158e-02	0	2	0	21	2		0	0	0	0	0	2	1	0.999910	15	100	0	20	2		0	0	0	0	21	2	-3.332992	1	1	120716	2	26	1	1	2	3	2.007888	0	0.220000	1.990000	0.223417	0.990000	0.710000	1.000000	1.000000	0.969221	0.990000	1	9.300000e-01	1
LETM1	3954	broad.mit.edu	37	4	1838239	1838239	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:1838239G>A	ENST00000302787.2	-	4	951	c.655C>T	c.(655-657)Ccg>Tcg	p.P219S		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1			13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		TCCATGAACGGCACCACCACG	0.557000																								0							SO:0001583	missense			ENST00000302787.2	0	1	hg19	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839614	0.91117	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.79033	-1.23	4.01	4.01	0.46588	LETM1-like (1);	0.000000	0.85682	D	0.000000	D	0.90099	0.6907	M	0.92412	3.305	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.964;0.948	D	0.93036	0.6453	10	0.87932	D	0	-35.3303	16.3116	0.82873	0.0:0.0:1.0:0.0	.	219;219	O95202-3;O95202	.;LETM1_HUMAN	S	219;179	ENSP00000305653:P219S	ENSP00000305653:P219S	P	-	1	0	LETM1	1808037	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.506000	0.97992	2.077000	0.62373	0.563000	0.77884	CCG		TCGA-HZ-A77P-01A-11D-A33T-08	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1	0	0	0	8	543	0	64	0	1.587078e-01	0	43	0	64	2		0	0	0	0	0	2	1	0.988974	8	537	0	63	2		0	0	0	0	64	2	-2.626279	1	1	0	0		1	1	2	3	2.013189	0	0.220000	1.990000	0.224267	0.140000	0.060000	1.000000	0.130000	0.180194	0.140000	0	9.000000e-02	2.100000e-01
SNX2	6643	broad.mit.edu	37	5	122163297	122163297	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:122163297G>A	ENST00000379516.2	+	14	1573	c.1465G>A	c.(1465-1467)Gtt>Att	p.V489I	SNX2_ENST00000514949.1_Missense_Mutation_p.V372I|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	p.V489I(1)		19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)		TTTTAAAACCGTTATCATCAA	0.299000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000379516.2	1	1	hg19	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539584	0.27563	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.57907	0.37;0.37	5.72	4.85	0.62838	Vps5 C-terminal (1);	0.118494	0.64402	D	0.000018	T	0.32823	0.0842	N	0.11255	0.115	0.41069	D	0.985434	B	0.02656	0.0	B	0.06405	0.002	T	0.12268	-1.0554	10	0.14252	T	0.57	-0.4711	15.1561	0.72743	0.068:0.0:0.932:0.0	.	489	O60749	SNX2_HUMAN	I	489;372	ENSP00000368831:V489I;ENSP00000421663:V372I	ENSP00000368831:V489I	V	+	1	0	SNX2	122191196	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.406000	0.59748	1.551000	0.49450	0.650000	0.86243	GTT		TCGA-HZ-A77P-01A-11D-A33T-08	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	1	0	0	23	230	0	41	1	1	12	308	0	41	2		0	0	0	0	0	2	1	1.000000	23	230	0	41	2		0	0	0	0	41	2	-8.892238	1	1	121404	1	31	1	1	2	3	2.009179	0	0.220000	1.990000	0.223417	0.830000	0.550000	1.000000	1.000000	0.834756	0.830000	0	6.800000e-01	1
ADAMTS19	171019	broad.mit.edu	37	5	129037148	129037148	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:129037148G>A	ENST00000274487.4	+	20	3149	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19			91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CAGACAAGTGGCCTGTACCCA	0.532000																								0							SO:0001583	missense			ENST00000274487.4	1	1	hg19	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487084	0.26686	.	.	ENSG00000145808	ENST00000274487	T	0.50813	0.73	4.0	3.13	0.36017	.	0.088465	0.44902	D	0.000406	T	0.15478	0.0373	N	0.00869	-1.13	0.38121	D	0.93784	B	0.14012	0.009	B	0.15052	0.012	T	0.09037	-1.0693	9	.	.	.	.	9.1005	0.36664	0.1723:0.0:0.8277:0.0	.	1002	Q8TE59	ATS19_HUMAN	T	1002	ENSP00000274487:A1002T	.	A	+	1	0	ADAMTS19	129065047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.694000	0.54742	1.273000	0.44346	0.650000	0.86243	GCC		TCGA-HZ-A77P-01A-11D-A33T-08	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	1	0	1	47	398	0	78	0	1.169265e-02	0	2	0	78	2		0	0	0	0	0	2	1	1.000000	47	392	0	78	2		0	0	0	0	78	2	-16.446480	1	0	0	0		1	1	2	3	2.009179	0	0.220000	1.990000	0.223417	0.960000	0.720000	1.000000	1.000000	0.934026	0.960000	1	8.300000e-01	1
PCDHGA3	56112	broad.mit.edu	37	5	140725483	140725483	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140725483C>T	ENST00000253812.6	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3			1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GAGGTGCGCACGGCGCGAGCC	0.697000																								0							SO:0001583	missense			ENST00000253812.6	0	1	hg19	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.230592	0.79688	.	.	ENSG00000254245	ENST00000253812	T	0.56941	0.43	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004248	T	0.80586	0.4651	H	0.95402	3.665	0.40444	D	0.980074	D;D	0.89917	1.0;0.998	D;D	0.64776	0.928;0.929	D	0.86843	0.2018	10	0.72032	D	0.01	.	18.9241	0.92537	0.0:1.0:0.0:0.0	.	628;628	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	628	ENSP00000253812:T628M	ENSP00000253812:T628M	T	+	2	0	PCDHGA3	140705667	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.478000	0.81082	2.636000	0.89361	0.558000	0.71614	ACG		TCGA-HZ-A77P-01A-11D-A33T-08	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	1	0	0	46	386	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	0.999998	18	147	0	130	2		0	0	0	0	76	2	-20.000000	1	1	0	0		1	1	2	3	2.009179	0	0.220000	1.990000	0.223417	0.970000	0.720000	1.000000	1.000000	0.937655	0.970000	1	8.400000e-01	1
PCDHGB1	56104	broad.mit.edu	37	5	140729951	140729951	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140729951G>A	ENST00000523390.1	+	1	124	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1			16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCTAGCCAACGGCTCACGGGT	0.527000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000523390.1	0	1	hg19	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	27.1	4.796737	0.90453	.	.	ENSG00000254221	ENST00000523390	T	0.51574	0.7	5.52	5.52	0.82312	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.78923	0.4360	H	0.95260	3.645	0.39854	D	0.97328	D;D	0.76494	0.998;0.999	D;D	0.71870	0.947;0.975	D	0.85452	0.1161	9	0.72032	D	0.01	.	19.4222	0.94726	0.0:0.0:1.0:0.0	.	42;42	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	S	42	ENSP00000429273:G42S	ENSP00000429273:G42S	G	+	1	0	PCDHGB1	140710135	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	6.223000	0.72257	2.756000	0.94617	0.563000	0.77884	GGC		TCGA-HZ-A77P-01A-11D-A33T-08	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	1	0	0	13	145	0	19	0	8.152174e-03	0	2	0	19	2		0	0	0	0	0	2	1	0.999553	13	142	0	19	2		0	0	0	0	19	2	-6.687618	1	1	0	0		1	1	2	3	2.009179	0	0.220000	1.990000	0.223417	0.760000	0.430000	1.000000	1.000000	0.771383	0.760000	0	5.800000e-01	1
PCDHGC3	5098	broad.mit.edu	37	5	140856777	140856777	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140856777C>T	ENST00000308177.3	+	1	1198	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3			29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCCGAGGATGCCCCTCTGGGG	0.582000																								0							SO:0001583	missense			ENST00000308177.3	0	1	hg19	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706593	0.89018	.	.	ENSG00000240184	ENST00000308177	T	0.55588	0.51	5.49	5.49	0.81192	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.69450	0.3112	L	0.54965	1.715	0.39337	D	0.965512	D;D	0.89917	0.999;1.0	D;D	0.75020	0.985;0.984	T	0.68375	-0.5425	9	0.48119	T	0.1	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	365;365	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	V	365	ENSP00000312070:A365V	ENSP00000312070:A365V	A	+	2	0	PCDHGC3	140836961	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	5.915000	0.69973	2.865000	0.98341	0.655000	0.94253	GCC		TCGA-HZ-A77P-01A-11D-A33T-08	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	0	0	0	5	259	0	36	0	3.301946e-01	1	52	0	36	2		0	0	0	0	0	2	1	0.938126	5	259	0	36	2		0	0	0	0	36	2	-4.029790	1	0	0	0		1	1	2	3	2.009179	0	0.220000	1.990000	0.223417	0.190000	0.060000	1.000000	0.170000	0.226192	0.190000	0	1.100000e-01	2.900000e-01
ARAP3	64411	broad.mit.edu	37	5	141044614	141044614	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:141044614G>A	ENST00000239440.4	-	19	2740	c.2675C>T	c.(2674-2676)aCg>aTg	p.T892M	ARAP3_ENST00000508305.1_Missense_Mutation_p.T794M|ARAP3_ENST00000513878.1_Missense_Mutation_p.T554M|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3			53					GTTCCATGCCGTGAAGTCCAG	0.657000											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000239440.4	0	1	hg19	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687765	0.29962	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.29655	1.56;1.56;1.56	4.83	4.83	0.62350	Pleckstrin homology domain (1);	0.555087	0.17874	N	0.159088	T	0.19127	0.0459	N	0.24115	0.695	0.24003	N	0.996205	B;B;B	0.27498	0.155;0.18;0.113	B;B;B	0.23574	0.047;0.01;0.005	T	0.12142	-1.0559	10	0.16896	T	0.51	.	11.2395	0.48962	0.0843:0.0:0.9157:0.0	.	554;794;892	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	M	794;892;554	ENSP00000421826:T794M;ENSP00000239440:T892M;ENSP00000421468:T554M	ENSP00000239440:T892M	T	-	2	0	ARAP3	141024798	0.979000	0.34478	0.993000	0.49108	0.395000	0.30598	4.406000	0.59748	2.518000	0.84900	0.650000	0.86243	ACG		TCGA-HZ-A77P-01A-11D-A33T-08	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	0	0	0	5	189	0	28	1	3.199931e-01	2	36	0	28	2		0	0	0	0	0	2	1	0.935778	5	186	0	27	2		0	0	0	0	28	2	-3.551343	1	0	121408	1	30	1	1	2	3	2.009179	0	0.220000	1.990000	0.223417	0.250000	0.090000	1.000000	0.240000	0.295417	0.250000	0	1.600000e-01	4.000000e-01
AHRR	57491	broad.mit.edu	37	5	434517	434517	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:434517G>T	ENST00000505113.1	+	11	1718	c.1674G>T	c.(1672-1674)tgG>tgT	p.W558C	AHRR_ENST00000316418.5_Missense_Mutation_p.W576C|AHRR_ENST00000512529.1_Missense_Mutation_p.W404C|AHRR_ENST00000506456.1_Missense_Mutation_p.W414C	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor			20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		GCCAGGTGTGGCTGGGGGCCA	0.607000																								0							SO:0001583	missense			ENST00000505113.1	1	1	hg19	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580075	0.28180	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.73152	0.77;0.82;0.59;0.58;-0.72	4.74	2.94	0.34122	.	0.201899	0.46758	N	0.000278	T	0.74512	0.3726	L	0.36672	1.1	0.54753	D	0.999981	B;D;D	0.89917	0.023;1.0;1.0	B;D;D	0.91635	0.024;0.998;0.999	T	0.72903	-0.4151	10	0.56958	D	0.05	.	9.5858	0.39514	0.0:0.1544:0.6854:0.1602	.	414;558;576	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	C	558;576;404;414;213	ENSP00000424601:W558C;ENSP00000323816:W576C;ENSP00000424880:W404C;ENSP00000426932:W414C;ENSP00000426076:W213C	ENSP00000323816:W576C	W	+	3	0	AHRR	487517	1.000000	0.71417	0.841000	0.33234	0.040000	0.13550	3.498000	0.53302	0.523000	0.28482	0.555000	0.69702	TGG		TCGA-HZ-A77P-01A-11D-A33T-08	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	1	0	0	18	201	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	0.999975	17	189	0	38	2		0	0	0	0	39	2	-19.999940	1	1	0	0		1	0	0	0	1.989587	0	0.220000	1.990000	0.213075	0.740000	0.460000	1.000000	1.000000	0.753867	0.740000	0	5.900000e-01	9.200000e-01
BTN3A1	11119	broad.mit.edu	37	6	26406286	26406286	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:26406286T>C	ENST00000289361.6	+	3	603	c.235T>C	c.(235-237)Tat>Cat	p.Y79H	BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y79H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1			28					GGTGAACGTGTATGCAGATGG	0.562000																								0							SO:0001583	missense			ENST00000289361.6	1	1	hg19	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	13.89	2.371832	0.42003	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000506698;ENST00000414912	T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;4.1;-0.12	2.21	-3.57	0.04612	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56217	0.1970	M	0.67625	2.065	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.50725	-0.8794	9	0.54805	T	0.06	.	4.3804	0.11291	0.0:0.3702:0.1798:0.4499	.	79;79;79;79	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	H	79	ENSP00000420010:Y79H;ENSP00000289361:Y79H;ENSP00000394937:Y79H;ENSP00000396684:Y79H;ENSP00000427013:Y79H;ENSP00000406667:Y79H	ENSP00000289361:Y79H	Y	+	1	0	BTN3A1	26514265	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-0.501000	0.06398	-0.918000	0.03808	0.454000	0.30748	TAT		TCGA-HZ-A77P-01A-11D-A33T-08	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3	0	0	0	63	575	0	105	0	4.141757e-01	1	13	0	105	2		0	0	0	0	0	2	1	1.000000	52	528	0	151	2		0	0	0	0	105	2	-20.000000	1	1	0	0		1	0	0	0	1.977284	0	0.220000	1.990000	0.207800	0.870000	0.680000	1.000000	1.000000	0.880828	0.870000	1	7.700000e-01	9.900000e-01
GPX5	2880	broad.mit.edu	37	6	28501886	28501886	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:28501886C>T	ENST00000412168.2	+	5	697	c.608C>T	c.(607-609)aCg>aTg	p.T203M	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)			16				Glutathione(DB00143)	CACCGGGCTACGGTCAGCTCA	0.522000																								0							SO:0001583	missense			ENST00000412168.2	1	1	hg19	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	C	7.568	0.666106	0.14710	0.0	1.16E-4	ENSG00000224586	ENST00000412168	T	0.04194	3.68	4.52	2.7	0.31948	Thioredoxin-like fold (2);	0.659654	0.15691	N	0.249449	T	0.02727	0.0082	M	0.63843	1.955	0.09310	N	1	D	0.59767	0.986	P	0.44772	0.46	T	0.40117	-0.9580	10	0.48119	T	0.1	-14.0316	7.4322	0.27134	0.1803:0.73:0.0:0.0897	.	203	O75715	GPX5_HUMAN	M	203	ENSP00000392398:T203M	ENSP00000392398:T203M	T	+	2	0	GPX5	28609865	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	1.329000	0.33770	0.793000	0.33875	-0.119000	0.15052	ACG		TCGA-HZ-A77P-01A-11D-A33T-08	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2	1	0	1	50	403	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1.000000	50	398	0	67	2		0	0	0	0	67	2	-20.000000	1	1	121412	2	34	1	0	0	0	1.977284	0	0.220000	1.990000	0.207800	0.980000	0.740000	1.000000	1.000000	0.945063	0.980000	1	8.500000e-01	1
TAF2	6873	broad.mit.edu	37	8	120770369	120770369	+	Silent	SNP	A	A	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:120770369A>G	ENST00000378164.2	-	21	3010	c.2712T>C	c.(2710-2712)taT>taC	p.Y904Y	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa			49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)		GCAGTTCTTCATAACTTCTGT	0.289000																								0							SO:0001819	synonymous_variant			ENST00000378164.2	1	1	hg19	CCDS34937.1																																																																																				TCGA-HZ-A77P-01A-11D-A33T-08	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	1	0	0	63	616	0	80	1	9.419205e-01	5	43	0	80	2		0	0	0	0	0	2	1	1.000000	62	614	0	80	2		0	0	0	0	80	2	-20.000000	1	1	0	0		1	0	1	1	1.991446	0	0.220000	1.990000	0.215686	0.830000	0.650000	1.000000	1.000000	0.841758	0.830000	0	7.300000e-01	9.400000e-01
XPO7	23039	broad.mit.edu	37	8	21846540	21846540	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:21846540G>A	ENST00000252512.9	+	16	1914	c.1814G>A	c.(1813-1815)cGt>cAt	p.R605H	XPO7_ENST00000433566.4_Missense_Mutation_p.R606H|XPO7_ENST00000434536.1_Missense_Mutation_p.R614H	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7			36					TACTGGGGCCGTTGTGAACCA	0.448000																								0							SO:0001583	missense			ENST00000252512.9	1	1	hg19	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390951	0.42410	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.65916	-0.18;-0.18;-0.18	5.89	5.89	0.94794	Armadillo-type fold (1);	0.052693	0.85682	D	0.000000	T	0.50240	0.1604	N	0.16656	0.425	0.80722	D	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.36359	-0.9751	10	0.37606	T	0.19	-10.0541	19.8455	0.96706	0.0:0.0:1.0:0.0	.	606;614;605	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	H	614;605;606	ENSP00000404853:R614H;ENSP00000252512:R605H;ENSP00000410249:R606H	ENSP00000252512:R605H	R	+	2	0	XPO7	21902486	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.327000	0.79147	2.800000	0.96347	0.650000	0.86243	CGT		TCGA-HZ-A77P-01A-11D-A33T-08	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	1	0	0	17	148	0	27	1	9.690950e-01	11	42	0	27	2		0	0	0	0	0	2	1	0.999971	16	147	0	27	2		0	0	0	0	27	2	-19.999960	1	1	120856	3	31	1	0	1	1	1.793560	1	0.220000	1.990000	0.127907	0.790000	0.500000	1.000000	1.000000	0.789070	0.790000	0	6.300000e-01	9.400000e-01
CNBD1	168975	broad.mit.edu	37	8	88365930	88365930	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:88365930G>A	ENST00000518476.1	+	10	1270	c.1219G>A	c.(1219-1221)Gtc>Atc	p.V407I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	p.V407I(1)		32					TGAGATTAGCGTCCTTCTTCA	0.323000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000518476.1	1	1	hg19	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388099	0.25118	2.72E-4	2.45E-4	ENSG00000176571	ENST00000518476	D	0.92397	-3.03	4.98	2.73	0.32206	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.322185	0.21804	N	0.068869	T	0.75273	0.3827	N	0.11560	0.145	0.09310	N	1	P	0.36647	0.563	B	0.28011	0.085	T	0.69789	-0.5050	10	0.05351	T	0.99	-13.7869	6.2957	0.21085	0.2887:0.0:0.7113:0.0	.	407	Q8NA66	CNBD1_HUMAN	I	407	ENSP00000430073:V407I	ENSP00000430073:V407I	V	+	1	0	CNBD1	88435046	0.171000	0.23029	0.437000	0.26809	0.931000	0.56810	-0.057000	0.11768	0.288000	0.22398	0.555000	0.69702	GTC		TCGA-HZ-A77P-01A-11D-A33T-08	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	1	0	1	32	221	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1.000000	32	218	0	31	2		0	0	0	0	31	2	-6.203033	1	1	120800	12	42	1	0	1	1	1.991446	0	0.220000	1.990000	0.215686	0.990000	0.800000	1.000000	1.000000	0.980532	0.990000	1	9.600000e-01	1
MATN2	4147	broad.mit.edu	37	8	99045355	99045355	+	Silent	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:99045355C>T	ENST00000520016.1	+	16	2791	c.2667C>T	c.(2665-2667)gaC>gaT	p.D889D	MATN2_ENST00000522025.2_Silent_p.D605D|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000521689.1_Silent_p.D870D|MATN2_ENST00000524308.1_Silent_p.D848D|MATN2_ENST00000254898.5_Silent_p.D889D			O00339	MATN2_HUMAN	matrilin 2			31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)		TTGAAGAAGACAATCTTTTAC	0.358000																								0							SO:0001819	synonymous_variant			ENST00000520016.1	0	1	hg19	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.191|8.191	0.795925|0.795925	0.16327|0.16327	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000518154|ENST00000519582;ENST00000522135	.|.	.|.	.|.	5.76|5.76	1.72|1.72	0.24424|0.24424	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51736	.|0.1692	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42899	.|-0.9424	.|4	.|.	.|.	.|.	-37.6152|-37.6152	5.185|5.185	0.15180|0.15180	0.0:0.5998:0.1496:0.2506|0.0:0.5998:0.1496:0.2506	.|.	.|.	.|.	.|.	X|I	653|126;52	.|.	.|.	Q|T	+|+	1|2	0|0	MATN2|MATN2	99114531|99114531	0.064000|0.064000	0.20934|0.20934	0.989000|0.989000	0.46669|0.46669	0.981000|0.981000	0.71138|0.71138	-0.162000|-0.162000	0.10012|0.10012	0.790000|0.790000	0.33803|0.33803	-0.137000|-0.137000	0.14449|0.14449	CAA|ACA		TCGA-HZ-A77P-01A-11D-A33T-08	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1	1	0	0	6	81	0	14	1	9.998933e-01	14	312	0	14	2		0	0	0	0	0	2	1	0.962897	5	79	0	14	2		0	0	0	0	14	2	-10.722830	1	1	0	0		1	0	1	1	1.991446	0	0.220000	1.990000	0.215686	0.640000	0.270000	1.000000	1.000000	0.665287	0.640000	0	4.300000e-01	9.100000e-01
PPP2R3B	28227	broad.mit.edu	37	X	299380	299380	+	Silent	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:299380G>T	ENST00000390665.3	-	12	1554	c.1536C>A	c.(1534-1536)atC>atA	p.I512I		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta			11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			CGGCCACCAGGATGTCGTACT	0.692000																								0							SO:0001819	synonymous_variant			ENST00000390665.3	1	1	hg19	CCDS14104.1																																																																																				TCGA-HZ-A77P-01A-11D-A33T-08	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	1	0	0	13	155	0	25	1	6.725906e-01	5	24	0	25	2		0	0	0	0	0	2	1	0.999550	13	153	0	25	2		0	0	0	0	25	2	-8.393803	1	1	0	0		1	0	1	1			0.220000	1.990000	0.220000	0.350000	0.190000	0.550000	0.340000	0.366476	0.350000	0	2.600000e-01	4.600000e-01
CXorf36	79742	broad.mit.edu	37	X	45011191	45011191	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:45011191G>A	ENST00000398000.2	-	5	1082	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36			7					AAACCAGGCAGCTAAAAATGT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000398000.2	0	1	hg19	CCDS48096.1																																																																																				TCGA-HZ-A77P-01A-11D-A33T-08	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	1	0	1	8	24	0	10	0	9.678263e-01	0	22	0	10	2		0	0	0	0	0	2	1	0.990223	8	22	0	10	2		0	0	0	0	10	2	-17.704660	1	1	118268	2	29	1	0	1	1			0.220000	1.990000	0.220000	0.820000	0.470000	0.990000	0.990000	0.807820	0.820000	0	6.500000e-01	9.500000e-01
