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
OR10G2	26534	broad.mit.edu	37	14	22102229	22102231	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:22102229_22102231delTAG	ENST00000542433.1	-	1	865_867	c.768_770delCTA	c.(766-771)tactat>tat	p.256_257YY>Y		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2			22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)			ACAGGGGACATAGTAGACTGTGA	0.552000																								0							SO:0001651	inframe_deletion			ENST00000542433.1	0	1	hg19	CCDS32047.1																																																																																				TCGA-HV-A5A4-01A-11D-A26I-08	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1	1	0	0	38	258	0	27			0	0	0	27				0	0	0	0		1	0.157042	50	210	3	29	42	0	0	0	0	0	0		-20.000000	1	0	0	0		1	1	2	3	2.002756	0	0.560000	2	0.656250	0.580000	0.420000	0.770000	0.580000	0.597220	0.580000	0	5.000000e-01	6.800000e-01
PLXNB2	23654	broad.mit.edu	37	22	50717108	50717109	+	Frame_Shift_Ins	INS	-	-	GGAGCCC			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			-	GGAGCCC	-	-		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:50717108_50717109insGGAGCCC	ENST00000449103.1	-	29	4703_4704	c.4563_4564insGGGCTCC	c.(4561-4566)tccacafs	p.T1522fs	PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.T1522fs			O15031	PLXB2_HUMAN	plexin B2			66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			ATCTGCGCTGTGGAGCCCGGAC	0.639000																								0							SO:0001589	frameshift_variant			ENST00000449103.1	0	1	hg19	CCDS43035.1																																																																																				TCGA-HV-A5A4-01A-11D-A26I-08	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	1	0	0	11	134	0	27	0	9.999994e-01	0	423	0	27	2	1	1	114	1663	0	1195	2	1	0.999010	21	134	0	27	2	0	0	0	0	0	0		-16.224910	1	1	0	0		1	1	2	3	2.032619	0	0.560000	2	0.562450	0.280000	0.140000	0.490000	0.270000	0.298554	0.280000	0	2.000000e-01	3.700000e-01
PDCD4	27250	broad.mit.edu	37	10	112649342	112649342	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr10:112649342A>G	ENST00000280154.7	+	7	1103	c.829A>G	c.(829-831)Acc>Gcc	p.T277A	PDCD4_ENST00000393104.2_Missense_Mutation_p.T266A|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)			13		Breast(234;0.0848)|Lung NSC(174;0.238)			TTTATGTAATACCTATATTGA	0.313000													Ovarian(115;1498 1603 9363 40056 40885)											0							SO:0001583	missense			ENST00000280154.7	1	1	hg19	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	11.490000	1.653401	0.294250	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.40225	1.04;1.04	5.790000	4.650000	0.581690	Initiation factor eIF-4 gamma, MA3 (1);Armadillo-type fold (1);	0.131375	0.64402	D	0.000002	T	0.20170	0.0485	N	0.05012	-0.13	0.584320	D	0.999993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.06303	-1.0834	10	0.07990	T	0.79	-2.3734	12.243000	0.545530	0.8724:0.0:0.0:0.1276	.	263;277;266	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	A	277;266	ENSP00000280154:T277A;ENSP00000376816:T266A	ENSP00000280154:T277A	T	+	1	0	PDCD4	112639332	1	0.714170	1	0.803570	0.990000	0.784780	5.923000	0.700450	1.001000	0.390760	0.402000	0.269720	ACC		TCGA-HV-A5A4-01A-11D-A26I-08	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	1	0	1	281	667	0	68	1	1	41	99	0	68	2		0	0	0	0	0	2	1	1.000000	279	663	0	68	2		0	0	0	0	68	2	-20.000000	1	1	0	0		1	0	0	0	1.998602	0	0.560000	2	0.560000	0.990000	0.950000	1.000000	1.000000	0.996526	0.990000	1	9.900000e-01	1
APBB1	322	broad.mit.edu	37	11	6432332	6432332	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr11:6432332C>T	ENST00000609360.1	-	2	345	c.246G>A	c.(244-246)acG>acA	p.T82T	APBB1_ENST00000311051.3_Silent_p.T82T|APBB1_ENST00000389906.2_Silent_p.T82T|APBB1_ENST00000299402.6_Silent_p.T82T	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)			24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)			CACGGTGGGCCGTGGCGGCCC	0.667000													GBM(147;1810 2556 5672 39622)											0							SO:0001819	synonymous_variant			ENST00000609360.1	1	1	hg19																																																																																					TCGA-HV-A5A4-01A-11D-A26I-08	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	1	0	1	493	1188	0	221	1	9.999504e-01	2	35	0	221	2		0	0	0	0	0	2	1	1.000000	490	1169	0	218	2		0	0	0	0	221	2	-19.999050	1	1	0	0		1	0	0	0	2.003133	0	0.560000	2	0.560000	0.990000	0.960000	1.000000	1.000000	0.997733	0.990000	1	9.900000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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	0	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.200000	4.808637	0.907070	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.807220	D	1.000000	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	.	18.371900	0.904090	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	0.714170	1	0.803570	0.998000	0.957120	7.743000	0.850200	2.668000	0.907890	0.563000	0.778840	GGT		TCGA-HV-A5A4-01A-11D-A26I-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	66	79	0	6	1	9.986447e-01	6	10	0	6	2	1	1	209	441	0	467	2	1	1.000000	66	79	0	6	2	1	1	3723	4285	0	6	2	-20.000000	1	1	0	0		1	1	2	3	2.624080	1	0.560000	2	0.656250	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQCH	64799	broad.mit.edu	37	15	67555549	67555549	+	Silent	SNP	C	C	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:67555549C>G	ENST00000335894.4	+	3	330	c.264C>G	c.(262-264)tcC>tcG	p.S88S	IQCH_ENST00000512104.1_Silent_p.S88S|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H			33					CCCAGGCTTCCAAATGGTAAG	0.313000																								0							SO:0001819	synonymous_variant			ENST00000335894.4	1	1	hg19	CCDS32273.1																																																																																				TCGA-HV-A5A4-01A-11D-A26I-08	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	1	0	1	67	152	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	1.000000	67	151	0	25	2		0	0	0	0	25	2	-7.044731	1	1	0	0		1	0	1	1	1.991991	0	0.560000	2	0.558765	0.990000	0.870000	1.000000	1.000000	0.988028	0.990000	1	9.700000e-01	1
CACNA1H	8912	broad.mit.edu	37	16	1270897	1270897	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:1270897G>A	ENST00000348261.5	+	35	7213	c.6965G>A	c.(6964-6966)cGg>cAg	p.R2322Q	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2316Q|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2316Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit			34		Hepatocellular(780;0.00369)		Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GAGAAGAGGCGGGGGCTGTAC	0.652000																								0							SO:0001583	missense			ENST00000348261.5	1	1	hg19	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	0.011000	-1.691971	0.007310	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96396	-4.0;-3.95	3.850000	-3.300000	0.050030	.	7739.210000	0.00166	N	0.000000	D	0.88618	0.6485	N	0.04508	-0.205	0.093100	N	1.000000	B;B;B;B;B	0.12013	0.002;0.001;0.001;0.005;0.001	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0	D	0.84117	0.0404	10	0.11182	T	0.66	.	9.910700	0.414030	0.7772:0.0:0.2228:0.0	.	1068;1046;1052;2316;2322	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	Q	2322;2316	ENSP00000334198:R2322Q;ENSP00000351401:R2316Q	ENSP00000334198:R2322Q	R	+	2	0	CACNA1H	1210898	0	0.058580	0	0.037020	0.017000	0.094130	-0.131000	0.104820	-0.593000	0.058440	-0.998000	0.025120	CGG		TCGA-HV-A5A4-01A-11D-A26I-08	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	1	0	1	145	393	0	105	0	9.999989e-01	0	56	0	105	2		0	0	0	0	0	2	1	1.000000	141	381	0	99	2		0	0	0	0	105	2	-6.968456	1	1	0	0		1	1	2	3	2.023806	0	0.560000	2	0.562450	0.960000	0.830000	1.000000	1.000000	0.954969	0.960000	1	8.900000e-01	1
UMOD	7369	broad.mit.edu	37	16	20357476	20357476	+	Missense_Mutation	SNP	C	C	T	rs141355380		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:20357476C>T	ENST00000570689.1	-	5	1300	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	UMOD_ENST00000396134.2_Missense_Mutation_p.R418Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R385Q|UMOD_ENST00000396138.4_Missense_Mutation_p.R434Q|UMOD_ENST00000424589.1_Missense_Mutation_p.R418Q|UMOD_ENST00000302509.4_Missense_Mutation_p.R385Q			P07911	UROM_HUMAN	uromodulin			41					GGGGCCATCCCGGGCTGGGGT	0.587000																								0							SO:0001583	missense			ENST00000570689.1	1	1	hg19	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	0.028000	-1.351257	0.012560	0.0	2.33E-4	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.850000	1.240000	0.213080	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.284901	0.25117	N	0.033014	T	0.49474	0.1559	N	0.03050	-0.425	0.093100	N	0.999999	B;B	0.16603	0.018;0.001	B;B	0.18263	0.021;0.01	T	0.45308	-0.9270	10	0.02654	T	1	-14.2103	6.751600	0.234890	0.0:0.4899:0.0:0.5101	.	418;385	E9PEA4;P07911	.;UROM_HUMAN	Q	385;418;418;385;363;385	ENSP00000379438:R418Q;ENSP00000416346:R418Q;ENSP00000306279:R385Q;ENSP00000379446:R385Q	ENSP00000306279:R385Q	R	-	2	0	UMOD	20264977	2.500000e-02	0.190820	1.200000e-01	0.217140	0.279000	0.268900	-0.272000	0.085600	0.336000	0.236390	-0.424000	0.059670	CGG		TCGA-HV-A5A4-01A-11D-A26I-08	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1	1	0	1	67	195	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1.000000	67	195	0	37	2		0	0	0	0	37	2	-4.867557	1	1	121412	5	38	1	1	2	3	2.006756	0	0.560000	2	0.561229	0.910000	0.730000	1.000000	1.000000	0.908366	0.910000	1	8.100000e-01	1
TRADD	8717	broad.mit.edu	37	16	67189164	67189164	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:67189164G>T	ENST00000345057.4	-	4	931	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	TRADD_ENST00000566104.1_5'Flank|TRADD_ENST00000486556.1_Missense_Mutation_p.L95M	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain			11		Ovarian(137;0.0563)			GCATCCTCCAGCTCAGCCAGT	0.692000																								0							SO:0001583	missense			ENST00000345057.4	1	1	hg19	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	G	10.520000	1.372993	0.248570	.	.	ENSG00000102871	ENST00000345057	.	.	.	5.250000	2.140000	0.274770	TRADD, N-terminal (4);	0.000000	0.64402	D	0.000002	T	0.67951	0.2948	L	0.61218	1.895	0.401420	D	0.976847	D	0.76494	0.999	D	0.87578	0.998	T	0.67173	-0.5737	9	0.66056	D	0.02	-16.4405	7.194100	0.258430	0.2817:0.0:0.7183:0.0	.	155	Q15628	TRADD_HUMAN	M	155	.	ENSP00000341268:L155M	L	-	1	2	TRADD	65746665	9.970000e-01	0.396340	9.860000e-01	0.454190	0.268000	0.265110	1.890000	0.397280	0.517000	0.283610	0.448000	0.294170	CTG		TCGA-HV-A5A4-01A-11D-A26I-08	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2	1	0	0	24	32	0	17	1	1	54	34	0	17	2		0	0	0	0	0	2	1	1.000000	23	31	0	17	2		0	0	0	0	17	2	-20.000000	1	1	0	0		1	0	1	1	1.453218	1	0.560000	2	0.388889	0.910000	0.700000	1.000000	0.990000	0.901766	0.910000	1	8.100000e-01	9.800000e-01
GFAP	2670	broad.mit.edu	37	17	42992592	42992592	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:42992592C>T	ENST00000253408.5	-	1	328	c.263G>A	c.(262-264)cGc>cAc	p.R88H	GFAP_ENST00000435360.2_Missense_Mutation_p.R88H|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.R88H	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein			23		Prostate(33;0.0959)			TTCCAGGAAGCGAACCTTCTC	0.607000																								0							SO:0001583	missense			ENST00000253408.5	1	1	hg19	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	19.520000	3.843111	0.714880	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360;ENST00000376990	D;D;D	0.91843	-2.92;-2.92;-2.92	4.690000	4.690000	0.590740	Filament (1);	0.000000	0.85682	D	0.000000	D	0.94958	0.8369	L	0.58810	1.83	0.807220	D	1.000000	D;P	0.89917	1.0;0.797	D;P	0.69824	0.966;0.499	D	0.95295	0.8398	10	0.72032	D	0.01	.	17.773600	0.885000	0.0:1.0:0.0:0.0	.	88;88	E9PAX3;P14136	.;GFAP_HUMAN	H	88;63;88;88	ENSP00000253408:R88H;ENSP00000403962:R88H;ENSP00000366189:R88H	ENSP00000253408:R88H	R	-	2	0	GFAP	40348118	1	0.714170	1	0.803570	0.982000	0.717510	7.609000	0.829250	2.609000	0.882690	0.462000	0.415740	CGC		TCGA-HV-A5A4-01A-11D-A26I-08	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	0	0	1	91	305	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	1.000000	89	300	0	56	2		0	0	0	0	56	2	-20.000000	1	1	121412	4	36	1	1	2	3	2.021484	0	0.560000	2	0.562450	0.820000	0.670000	1.000000	0.820000	0.829805	0.820000	0	7.400000e-01	9.100000e-01
GAA	2548	broad.mit.edu	37	17	78086379	78086379	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:78086379C>T	ENST00000302262.3	+	13	1976	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	GAA_ENST00000390015.3_Missense_Mutation_p.A586V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid			21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)	Acarbose(DB00284)|Miglitol(DB00491)	CACCCCAGGGCGCTGGTGAAG	0.682000																								0							SO:0001583	missense			ENST00000302262.3	1	1	hg19	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	C	19.420000	3.823727	0.711430	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.92348	-3.02;-3.02	4.560000	4.560000	0.562230	Glycoside hydrolase, superfamily (1);	0.113983	0.64402	D	0.000017	D	0.95746	0.8616	M	0.83692	2.655	0.584320	D	0.999996	D	0.67145	0.996	D	0.64321	0.924	D	0.96539	0.9399	10	0.87932	D	0	-31.9547	16.071500	0.809400	0.0:1.0:0.0:0.0	.	586	P10253	LYAG_HUMAN	V	586	ENSP00000305692:A586V;ENSP00000374665:A586V	ENSP00000305692:A586V	A	+	2	0	GAA	75700974	1	0.714170	9.640000e-01	0.405700	0.013000	0.082790	7.628000	0.831890	2.068000	0.618860	0.561000	0.740990	GCG		TCGA-HV-A5A4-01A-11D-A26I-08	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1	1	0	1	58	157	0	32	1	1	12	114	0	32	2		0	0	0	0	0	2	1	1.000000	57	155	0	32	2		0	0	0	0	32	2	-20.000000	1	1	121308	2	35	1	1	2	3	2.021484	0	0.560000	2	0.562450	0.960000	0.760000	1.000000	1.000000	0.942329	0.960000	1	8.600000e-01	1
RNF213	57674	broad.mit.edu	37	17	78282819	78282819	+	Splice_Site	SNP	A	A	T	rs143170125		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:78282819A>T	ENST00000582970.1	+	14	2646	c.2503A>T	c.(2503-2505)Att>Ttt	p.I835F	RNF213_ENST00000319921.4_Splice_Site_p.I835F|RNF213_ENST00000508628.2_Splice_Site_p.I884F|RNF213_ENST00000456466.1_Splice_Site_p.I835F	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213			130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		GCGGGGCAGGATTCCCGAGGA	0.478000																								0							SO:0001630	splice_region_variant			ENST00000582970.1	0	1	hg19	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	10.630000	1.404440	0.253780	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.13538	2.58;2.58	5.380000	-4.180000	0.038460	.	0.582430	0.16075	N	0.230818	T	0.22551	0.0544	L	0.60455	1.87	0.093100	N	1.000000	D;D	0.67145	0.993;0.996	P;D	0.65010	0.878;0.931	T	0.04467	-1.0949	10	0.62326	D	0.03	-8.6268	7.225900	0.260160	0.2421:0.2827:0.4752:0.0	.	835;835	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	F	835;884;835;835	ENSP00000392123:I835F;ENSP00000324392:I835F	ENSP00000324392:I835F	I	+	1	0	RNF213	75897414	3.900000e-01	0.252130	0	0.037020	0.004000	0.042600	0.107000	0.153750	-0.398000	0.076790	0.533000	0.621200	ATT		TCGA-HV-A5A4-01A-11D-A26I-08	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	0	0	153	469	0	77	1	8.645865e-01	4	9	0	77	2	1	1	246	597	0	656	2	1	1.000000	152	465	0	76	2		0	0	0	0	77	2	-20.000000	1	0	0	0		1	1	2	3	2.021484	0	0.560000	2	0.562450	0.880000	0.760000	1.000000	0.880000	0.885445	0.880000	1	8.100000e-01	9.500000e-01
NPC1	4864	broad.mit.edu	37	18	21136301	21136301	+	Missense_Mutation	SNP	C	C	T	rs77080672	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:21136301C>T	ENST00000269228.5	-	8	1786	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	NPC1_ENST00000412552.2_Missense_Mutation_p.R161Q|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1			38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)				GAGAGGGGCCCGGATGATGAG	0.557000																								0							SO:0001583	missense			ENST00000269228.5	1	1	hg19	CCDS11878.1	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	1	0.0017482517482517483	0	0.0	C	10.600000	1.395669	0.252050	0.005901	0.0	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.88431	-2.38;-2.38	5.450000	-6.010000	0.021990	.	0.659654	0.15769	N	0.245512	T	0.66567	0.2802	N	0.11560	0.145	0.093100	N	1.000000	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.53514	-0.8428	10	0.19147	T	0.46	-6.5932	13.467800	0.612660	0.0:0.1727:0.0923:0.735	.	422;411	Q59GR1;O15118	.;NPC1_HUMAN	Q	411;161;256	ENSP00000269228:R411Q;ENSP00000408606:R161Q	ENSP00000269228:R411Q	R	-	2	0	NPC1	19390299	4.000000e-02	0.199960	2.170000e-01	0.237590	0.982000	0.717510	0.001000	0.130380	-1.632000	0.015410	-0.137000	0.144490	CGG		TCGA-HV-A5A4-01A-11D-A26I-08	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	1	0	1	87	267	0	51	1	9.854672e-01	7	16	0	51	2		0	0	0	0	0	2	1	1.000000	88	265	0	50	2		0	0	0	0	51	2	-2.841094	1	1	0	0		1	0	0	0	1.923068	0	0.560000	2	0.539363	0.830000	0.680000	0.990000	0.840000	0.840485	0.830000	0	7.500000e-01	9.200000e-01
SMAD4	4089	broad.mit.edu	37	18	48604736	48604736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:48604736G>T	ENST00000342988.3	+	12	2096	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)|p.E520*(1)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			GAGCATCAAAGAAACACCTTG	0.488000																								39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000342988.3	0	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	42.000000	9.212720	0.991010	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.080000	5.210000	0.722930	.	0.097880	0.64402	D	0.000002	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.538500	0.679790	0.0714:0.0:0.9286:0.0	.	.	.	.	X	520	.	ENSP00000341551:E520X	E	+	1	0	SMAD4	46858734	1	0.714170	9.860000e-01	0.454190	0.978000	0.694770	7.414000	0.801170	1.582000	0.498810	0.655000	0.942530	GAA		TCGA-HV-A5A4-01A-11D-A26I-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	124	204	0	46	1	1	25	36	0	46	2	1	1	253	371	0	692	2	1	1.000000	124	201	0	46	2		0	0	0	0	46	2	-20.000000	1	1	0	0		1	0	1	1	1.429926	1	0.560000	2	0.391256	0.940000	0.820000	1.000000	1.000000	0.940809	0.940000	1	8.800000e-01	9.900000e-01
TJP3	27134	broad.mit.edu	37	19	3740730	3740730	+	Silent	SNP	C	C	T	rs139746746	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:3740730C>T	ENST00000541714.2	+	14	2274	c.1812C>T	c.(1810-1812)taC>taT	p.Y604Y	TJP3_ENST00000587686.1_Silent_p.Y623Y|TJP3_ENST00000539908.2_Silent_p.Y568Y|TJP3_ENST00000262968.9_Silent_p.Y637Y|TJP3_ENST00000589378.1_Silent_p.Y613Y|TJP3_ENST00000382008.3_Silent_p.Y618Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3			26					AGGGCCGCTACCCGCCCTACG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000541714.2	1	1	hg19	CCDS32873.2																																																																																				TCGA-HV-A5A4-01A-11D-A26I-08	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1	1	0	1	45	165	0	53	1	1	89	124	0	53	2		0	0	0	0	0	2	1	1.000000	44	163	0	51	2		0	0	0	0	53	2	-20.000000	1	1	121198	26	42	1	1	2	3	2.032916	0	0.560000	2	0.562450	0.760000	0.580000	1.000000	0.760000	0.777863	0.760000	0	6.700000e-01	8.800000e-01
PLIN4	729359	broad.mit.edu	37	19	4513275	4513275	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:4513275C>T	ENST00000301286.3	-	3	654	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4			41					TCTTTGGTGCCGGTCAGCACA	0.577000																								0							SO:0001583	missense			ENST00000301286.3	1	1	hg19	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	14.740000	2.625887	0.468400	.	.	ENSG00000167676	ENST00000301286	T	0.15256	2.44	5.010000	5.010000	0.668630	.	0.000000	0.53938	D	0.000057	T	0.43897	0.1268	M	0.80982	2.52	0.350750	D	0.762835	D	0.89917	1.0	D	0.97110	1.0	T	0.60393	-0.7272	10	0.66056	D	0.02	-30.3146	13.817100	0.632990	0.0:1.0:0.0:0.0	.	219	Q96Q06	PLIN4_HUMAN	S	219	ENSP00000301286:G219S	ENSP00000301286:G219S	G	-	1	0	PLIN4	4464275	1.000000e-03	0.127200	9.000000e-01	0.353740	0.006000	0.054640	0.305000	0.192540	2.313000	0.780550	0.561000	0.740990	GGC		TCGA-HV-A5A4-01A-11D-A26I-08	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	1	0	1	274	783	0	134	0	0	1	0	0	134	2		0	0	0	0	0	2	1	1.000000	273	777	0	134	2		0	0	0	0	134	2	-8.731358	1	1	121110	1	38	1	1	2	3	2.032916	0	0.560000	2	0.562450	0.920000	0.830000	1.000000	1.000000	0.930678	0.920000	1	8.700000e-01	9.800000e-01
KLK2	3817	broad.mit.edu	37	19	51378013	51378013	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:51378013G>T	ENST00000325321.3	+	2	308	c.83G>T	c.(82-84)gGc>gTc	p.G28V	KLK2_ENST00000358049.4_Missense_Mutation_p.G28V|KLK2_ENST00000597509.1_3'UTR|AC037199.1_ENST00000594218.1_Missense_Mutation_p.P10T|KLK2_ENST00000391810.2_Intron			P20151	KLK2_HUMAN	kallikrein-related peptidase 2		KLK2/ETV1(3)|KLK2/ETV4(2)	11		all_neural(266;0.026)			ATTGTGGGAGGCTGGGAGTGT	0.622000			T	ETV4	prostate										Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0							SO:0001583	missense			ENST00000325321.3	1	1	hg19	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	G	17.010000	3.280438	0.597580	.	.	ENSG00000167751	ENST00000325321;ENST00000358049	T;T	0.61392	0.11;0.11	2.460000	2.460000	0.299800	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.35646	N	0.003067	T	0.81163	0.4765	H	0.95917	3.74	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85452	0.1161	10	0.87932	D	0	.	11.042900	0.478420	0.0:0.0:1.0:0.0	.	28;28	P20151-2;P20151	.;KLK2_HUMAN	V	28	ENSP00000313581:G28V;ENSP00000350748:G28V	ENSP00000313581:G28V	G	+	2	0	KLK2	56069825	9.990000e-01	0.422020	1.040000e-01	0.212590	0.171000	0.227310	3.232000	0.513020	1.306000	0.449260	0.455000	0.322230	GGC		TCGA-HV-A5A4-01A-11D-A26I-08	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	1	0	1	85	257	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1.000000	85	253	0	50	2		0	0	0	0	50	2	-20.000000	1	1	0	0		1	1	2	3	2.024108	0	0.560000	2	0.562450	0.890000	0.730000	1.000000	1.000000	0.892192	0.890000	1	8.000000e-01	9.800000e-01
PEG3	5178	broad.mit.edu	37	19	57327380	57327380	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:57327380G>A	ENST00000326441.9	-	10	2793	c.2430C>T	c.(2428-2430)ttC>ttT	p.F810F	PEG3_ENST00000598410.1_Silent_p.F686F|PEG3_ENST00000423103.2_Silent_p.F810F|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.F684F|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	p.F810F(2)		170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			TGATAGCATCGAAGCTCTGAA	0.468000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000326441.9	1	1	hg19	CCDS12948.1																																																																																				TCGA-HV-A5A4-01A-11D-A26I-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	0	299	800	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1.000000	298	792	0	91	2		0	0	0	0	91	2	-11.618940	1	1	0	0		1	1	2	3	2.039655	0	0.560000	2	0.564873	0.970000	0.880000	1.000000	1.000000	0.971773	0.970000	1	9.300000e-01	1
PTCHD2	57540	broad.mit.edu	37	1	11596541	11596541	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:11596541C>T	ENST00000294484.6	+	21	4115	c.3977C>T	c.(3976-3978)aCg>aTg	p.T1326M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T1326M|PTCHD2_ENST00000304391.6_Silent_p.H212H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2			76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)			GCACTCAACACGGGCGTGTCC	0.607000																								0							SO:0001583	missense			ENST00000294484.6	1	1	hg19	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	22.000000	4.236822	0.798000	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.91180	-2.8;-1.95	4.780000	4.780000	0.611600	Membrane transport protein, MMPL type (1);	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	L	0.55834	1.745	0.584320	D	0.999990	D	0.89917	1.0	D	0.97110	1.0	D	0.91570	0.5271	10	0.22109	T	0.4	-9.8263	16.833200	0.859500	0.0:1.0:0.0:0.0	.	1326	Q9P2K9	PTHD2_HUMAN	M	1326	ENSP00000294484:T1326M;ENSP00000374226:T1326M	ENSP00000294484:T1326M	T	+	2	0	PTCHD2	11519128	1	0.714170	9.670000e-01	0.410340	0.979000	0.700020	4.789000	0.624460	2.214000	0.716950	0.561000	0.740990	ACG		TCGA-HV-A5A4-01A-11D-A26I-08	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	1	0	1	107	263	0	72	0	8.483957e-02	0	2	0	72	2		0	0	0	0	0	2	1	1.000000	107	260	0	72	2		0	0	0	0	72	2	-20.000000	1	1	121374	3	37	1	1	2	3	2.021444	0	0.560000	2	0.562450	0.990000	0.870000	1.000000	1.000000	0.983100	0.990000	1	9.500000e-01	1
TNFAIP8L2	79626	broad.mit.edu	37	1	151131265	151131265	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:151131265T>C	ENST00000368910.3	+	2	218	c.92T>C	c.(91-93)aTa>aCa	p.I31T		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2			3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		CATCTCTTCATAGATGAGACA	0.567000																								0							SO:0001583	missense			ENST00000368910.3	1	1	hg19	CCDS985.1	.	.	.	.	.	.	.	.	.	.	T	15.910000	2.971377	0.536140	.	.	ENSG00000163154	ENST00000368910	T	0.38240	1.15	5.670000	4.550000	0.560140	.	0.154981	0.56097	D	0.000023	T	0.24967	0.0606	M	0.62209	1.925	0.584320	D	0.999997	B	0.21147	0.052	B	0.32677	0.15	T	0.12243	-1.0555	10	0.66056	D	0.02	-0.0065	10.754300	0.462280	0.0:0.0756:0.0:0.9244	.	31	Q6P589	TP8L2_HUMAN	T	31	ENSP00000357906:I31T	ENSP00000357906:I31T	I	+	2	0	TNFAIP8L2	149397889	1	0.714170	3.960000e-01	0.262960	0.981000	0.711380	6.301000	0.727820	0.979000	0.384970	0.533000	0.621200	ATA		TCGA-HV-A5A4-01A-11D-A26I-08	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	1	0	1	225	295	0	40	0	9.954511e-01	0	14	0	40	2		0	0	0	0	0	2	1	1.000000	223	291	0	40	2		0	0	0	0	40	2	-20.000000	1	1	121412	1	30	1	1	2	3	2.525127	1	0.560000	2	0.654739	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AQP10	89872	broad.mit.edu	37	1	154296116	154296116	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:154296116C>T	ENST00000324978.3	+	5	581	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_Missense_Mutation_p.R181W|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	p.R181W(2)		23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		CCTGGACAGACGGAACAAGGG	0.612000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000324978.3	1	1	hg19	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	15.640000	2.894226	0.521210	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85955	-2.05;-2.05	4.900000	1.670000	0.240750	Aquaporin-like (2);	0.410133	0.24642	N	0.036791	D	0.90542	0.7036	H	0.95043	3.615	0.093100	N	1.000000	D;D	0.67145	0.996;0.994	P;P	0.59889	0.742;0.865	D	0.84976	0.0885	10	0.66056	D	0.02	.	12.930000	0.582820	0.5075:0.4925:0.0:0.0	.	181;181	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	W	181	ENSP00000318355:R181W;ENSP00000420341:R181W	ENSP00000318355:R181W	R	+	1	2	AQP10	152562740	3.000000e-03	0.150020	1.090000e-01	0.214070	0.949000	0.601150	0.450000	0.217620	0.639000	0.305640	0.555000	0.697020	CGG		TCGA-HV-A5A4-01A-11D-A26I-08	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	1	0	1	548	821	0	136	1	1.605253e-01	2	0	0	136	2		0	0	0	0	0	2	1	1.000000	544	814	0	135	2		0	0	0	0	136	2	-20.000000	1	1	121412	6	39	1	1	2	3	2.525127	1	0.560000	2	0.654739	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCST1	149095	broad.mit.edu	37	1	155007014	155007014	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:155007014C>T	ENST00000295542.1	+	3	261	c.165C>T	c.(163-165)ggC>ggT	p.G55G	DCST1_ENST00000392480.1_Silent_p.G55G|DCST1_ENST00000368419.2_Silent_p.G55G|DCST2_ENST00000368424.3_5'Flank|DCST2_ENST00000295536.5_5'Flank|DCST1_ENST00000423025.2_Silent_p.G55G	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1			27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)		TGGGGGCAGGCGCTGGGGGGC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000295542.1	1	0	hg19	CCDS1083.1																																																																																				TCGA-HV-A5A4-01A-11D-A26I-08	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	1	0	1	177	893	0	111	0	2.608006e-01	0	6	0	111	2		0	0	0	0	0	2	1	1.000000	174	881	0	111	2		0	0	0	0	111	2	-20.000000	1	1	0	0		1	1	2	3	2.525127	1	0.560000	2	0.654739	0.750000	0.640000	0.870000	0.750000	0.757765	0.750000	0	6.900000e-01	8.100000e-01
PES1	23481	broad.mit.edu	37	22	30975143	30975143	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:30975143T>C	ENST00000405677.1	-	15	2028	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	PES1_ENST00000354694.7_Missense_Mutation_p.E501G|PES1_ENST00000335214.6_Missense_Mutation_p.E496G|PES1_ENST00000402284.3_Missense_Mutation_p.E484G|PES1_ENST00000402281.1_Missense_Mutation_p.E362G	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1			29					CATCCTCTGCTCTTCCAGGGC	0.602000																								0							SO:0001583	missense			ENST00000405677.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	12.590000	1.982573	0.349420	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	4.020000	4.020000	0.467330	.	0.584696	0.17257	N	0.180925	T	0.40272	0.1110	M	0.81942	2.565	0.807220	D	1.000000	B;B;B;B	0.16603	0.008;0.018;0.013;0.008	B;B;B;B	0.17098	0.007;0.011;0.017;0.007	T	0.35176	-0.9799	10	0.42905	T	0.14	-12.7264	9.766700	0.405650	0.0:0.0:0.2307:0.7693	.	501;484;496;501	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	G	501;362;362;484;496	ENSP00000346725:E501G;ENSP00000384366:E362G;ENSP00000385654:E362G;ENSP00000384252:E484G;ENSP00000334612:E496G	ENSP00000334612:E496G	E	-	2	0	PES1	29305143	6.800000e-02	0.210570	1	0.803570	0.905000	0.533440	1.076000	0.307290	1.591000	0.500070	0.379000	0.241790	GAG		TCGA-HV-A5A4-01A-11D-A26I-08	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	1	0	0	46	103	0	19	1	1	75	148	0	19	2		0	0	0	0	0	2	1	1.000000	46	103	0	19	2		0	0	0	0	19	2	-20.000000	1	1	0	0		1	1	2	3	2.020961	0	0.560000	2	0.562450	0.990000	0.850000	1.000000	1.000000	0.985653	0.990000	1	9.700000e-01	1
TTN	7273	broad.mit.edu	37	2	179599224	179599224	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:179599224G>C	ENST00000591111.1	-	50	14600	c.14376C>G	c.(14374-14376)ttC>ttG	p.F4792L	TTN_ENST00000342992.6_Missense_Mutation_p.F3865L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.F5109L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TCTTGTCTTTGAACCAGCTAA	0.383000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.640000	1.405691	0.253780	.	.	ENSG00000155657	ENST00000342992	T	0.69685	-0.42	5.760000	2.580000	0.309490	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51415	0.1673	L	0.31804	0.96	0.807220	D	1.000000	B	0.12013	0.005	B	0.14578	0.011	T	0.50013	-0.8877	9	0.87932	D	0	.	7.701000	0.286230	0.4401:0.0:0.5599:0.0	.	4792	Q8WZ42	TITIN_HUMAN	L	3865	ENSP00000343764:F3865L	ENSP00000343764:F3865L	F	-	3	2	TTN	179307469	1	0.714170	1	0.803570	0.997000	0.918780	1.267000	0.330500	0.761000	0.331300	0.563000	0.778840	TTC		TCGA-HV-A5A4-01A-11D-A26I-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	154	488	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1.000000	154	488	0	62	2		0	0	0	0	63	2	-20.000000	1	1	0	0		1	0	0	0	1.999884	0	0.560000	2	0.560000	0.850000	0.730000	0.970000	0.860000	0.858273	0.850000	1	7.900000e-01	9.200000e-01
STXBP5L	9515	broad.mit.edu	37	3	120673880	120673880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:120673880C>T	ENST00000273666.6	+	3	554	c.283C>T	c.(283-285)Cga>Tga	p.R95*	STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R95*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like			68					AGGTGCTATACGAATGTATCC	0.363000																								0							SO:0001587	stop_gained			ENST00000273666.6	0	1	hg19	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	28.300000	4.910776	0.921780	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	.	.	.	5.550000	2.530000	0.305400	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.3558	12.379800	0.553010	0.4358:0.5642:0.0:0.0	.	.	.	.	X	95	.	ENSP00000273666:R95X	R	+	1	2	STXBP5L	122156570	1	0.714170	1	0.803570	0.962000	0.633680	1.116000	0.312210	0.648000	0.307320	-0.314000	0.088100	CGA		TCGA-HV-A5A4-01A-11D-A26I-08	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	0	76	169	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1.000000	75	166	0	18	2		0	0	0	0	19	2	-20.000000	1	1	0	0		1	0	0	0	1.997110	0	0.560000	2	0.560000	0.990000	0.900000	1.000000	1.000000	0.992445	0.990000	1	9.900000e-01	1
FYCO1	79443	broad.mit.edu	37	3	46008034	46008034	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:46008034T>C	ENST00000296137.2	-	8	2997	c.2792A>G	c.(2791-2793)cAg>cGg	p.Q931R	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q931R	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1			54					CTGGAGCTCCTGGACAGCACA	0.627000																								0							SO:0001583	missense			ENST00000296137.2	1	1	hg19	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	0.969000	-0.700659	0.032790	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.78481	-1.18;-1.18	5.170000	1.530000	0.231410	.	0.305477	0.32081	N	0.006616	T	0.67192	0.2867	L	0.50919	1.6	0.093100	N	1.000000	B;B	0.13145	0.007;0.005	B;B	0.10450	0.005;0.002	T	0.53975	-0.8362	10	0.31617	T	0.26	-12.6091	7.646200	0.283210	0.0:0.2406:0.0:0.7594	.	931;931	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	R	931	ENSP00000296137:Q931R;ENSP00000441178:Q931R	ENSP00000296137:Q931R	Q	-	2	0	FYCO1	45983038	5.400000e-02	0.205910	9.410000e-01	0.380090	0.062000	0.159950	0.895000	0.283630	0.307000	0.228800	0.533000	0.621200	CAG		TCGA-HV-A5A4-01A-11D-A26I-08	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	1	0	1	52	436	0	71	0	7.968182e-01	1	26	0	71	2		0	0	0	0	0	2	1	1.000000	51	435	0	71	2		0	0	0	0	71	2	-17.863500	1	1	0	0		1	0	0	0	1.997110	0	0.560000	2	0.560000	0.370000	0.280000	0.480000	0.380000	0.385664	0.370000	0	3.300000e-01	4.300000e-01
PRKCD	5580	broad.mit.edu	37	3	53218900	53218900	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:53218900G>T	ENST00000394729.2	+	9	1126	c.798G>T	c.(796-798)atG>atT	p.M266I	PRKCD_ENST00000330452.3_Missense_Mutation_p.M266I	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta			26		Ovarian(412;0.0728)		Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	ACTGCGGCATGAATGTGCACC	0.597000																								0							SO:0001583	missense			ENST00000394729.2	1	1	hg19	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	G	19.860000	3.904970	0.728680	.	.	ENSG00000163932	ENST00000394729;ENST00000330452;ENST00000464818	D;D;D	0.84298	-1.83;-1.83;-1.83	5.910000	5.910000	0.952730	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	L	0.29908	0.895	0.807220	D	1.000000	B;B	0.29188	0.236;0.05	B;B	0.41174	0.349;0.093	T	0.82424	-0.0464	10	0.59425	D	0.04	.	19.070000	0.931300	0.0:0.0:1.0:0.0	.	43;266	B0KZ81;Q05655	.;KPCD_HUMAN	I	266;266;194	ENSP00000378217:M266I;ENSP00000331602:M266I;ENSP00000419629:M194I	ENSP00000331602:M266I	M	+	3	0	PRKCD	53193940	1	0.714170	1	0.803570	0.975000	0.680410	9.869000	0.998100	2.793000	0.961210	0.655000	0.942530	ATG		TCGA-HV-A5A4-01A-11D-A26I-08	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1	1	0	1	105	374	0	89	1	1	45	82	0	89	2		0	0	0	0	0	2	1	1.000000	103	369	0	89	2		0	0	0	0	89	2	-20.000000	1	0	0	0		1	0	0	0	1.997110	0	0.560000	2	0.560000	0.770000	0.650000	0.910000	0.780000	0.785730	0.770000	0	7.100000e-01	8.500000e-01
PDZRN3	23024	broad.mit.edu	37	3	73433778	73433778	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:73433778G>A	ENST00000263666.4	-	10	2053	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304C|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3			69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)			AGGAGCTCGCGGAAGCGCTCG	0.662000																								0							SO:0001583	missense			ENST00000263666.4	1	1	hg19	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	17.630000	3.438370	0.629550	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.13901	2.55;3.25;3.14;3.14;3.26;3.21	4.280000	4.280000	0.508680	.	0.058403	0.64402	D	0.000002	T	0.35038	0.0918	M	0.71036	2.16	0.807220	D	1.000000	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;P;P;P	0.64321	0.924;0.739;0.901;0.739	T	0.24512	-1.0158	10	0.87932	D	0	.	16.521500	0.843180	0.0:0.0:1.0:0.0	.	369;364;364;647	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	C	647;369;304;304;364;345	ENSP00000263666:R647C;ENSP00000442026:R369C;ENSP00000418168:R304C;ENSP00000418484:R304C;ENSP00000418624:R364C;ENSP00000419250:R345C	ENSP00000263666:R647C	R	-	1	0	PDZRN3	73516468	1	0.714170	1	0.803570	0.998000	0.957120	4.857000	0.629390	2.212000	0.715760	0.655000	0.942530	CGC		TCGA-HV-A5A4-01A-11D-A26I-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	1	223	520	0	128	0	9.999699e-01	0	38	0	128	2		0	0	0	0	0	2	1	1.000000	220	515	0	126	2		0	0	0	0	128	2	-13.161310	1	1	0	0		1	0	0	0	1.997110	0	0.560000	2	0.560000	0.990000	0.950000	1.000000	1.000000	0.996789	0.990000	1	9.900000e-01	1
DKK2	27123	broad.mit.edu	37	4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:107845202C>T	ENST00000285311.3	-	4	1394	c.689G>A	c.(688-690)cGt>cAt	p.R230H	DKK2_ENST00000510463.1_Missense_Mutation_p.R184H|DKK2_ENST00000513208.1_Missense_Mutation_p.R130H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	p.R230H(3)		32		Hepatocellular(203;0.217)			ACAGTCGCAACGCTGGAAAAT	0.488000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000285311.3	1	1	hg19	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	28.200000	4.897895	0.919620	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.57595	0.39;0.52;0.54	5.640000	5.640000	0.866020	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.81341	2.54	0.807220	D	1.000000	D	0.76494	0.999	D	0.73380	0.98	T	0.77051	-0.2731	10	0.59425	D	0.04	-11.8314	19.687600	0.959860	0.0:1.0:0.0:0.0	.	230	Q9UBU2	DKK2_HUMAN	H	230;130;184	ENSP00000285311:R230H;ENSP00000421255:R130H;ENSP00000423797:R184H	ENSP00000285311:R230H	R	-	2	0	DKK2	108064651	1	0.714170	1	0.803570	0.692000	0.402120	7.487000	0.813280	2.657000	0.903040	0.585000	0.799380	CGT		TCGA-HV-A5A4-01A-11D-A26I-08	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4	1	0	1	192	571	0	78	0	2.658525e-01	0	4	0	78	2		0	0	0	0	0	2	1	1.000000	191	570	0	78	2		0	0	0	0	78	2	-20.000000	1	1	0	0		1	1	2	3	2.009687	0	0.560000	2	0.561229	0.890000	0.780000	1.000000	0.900000	0.901519	0.890000	1	8.400000e-01	9.600000e-01
PDGFRB	5159	broad.mit.edu	37	5	149513526	149513526	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:149513526C>T	ENST00000261799.4	-	5	1146	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide			75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACCCTGGCGGACCACAGT	0.542000			T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML										Dom	yes		5	5q31-q32	5159	platelet-derived growth factor receptor, beta polypeptide		L	0							SO:0001583	missense			ENST00000261799.4	1	1	hg19	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	25.000000	4.595320	0.869530	.	.	ENSG00000113721	ENST00000261799	T	0.13307	2.6	5.930000	5.930000	0.959200	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000040	T	0.22627	0.0546	L	0.33753	1.03	0.335790	D	0.599595	B;D;D	0.76494	0.134;0.995;0.999	B;P;P	0.58210	0.015;0.835;0.813	T	0.06807	-1.0806	10	0.56958	D	0.05	.	14.484400	0.676060	0.0:0.9302:0.0:0.0698	.	226;226;226	B5A957;A8KAM8;P09619	.;.;PGFRB_HUMAN	H	226	ENSP00000261799:R226H	ENSP00000261799:R226H	R	-	2	0	PDGFRB	149493719	9.960000e-01	0.388240	1	0.803570	0.962000	0.633680	2.085000	0.416340	2.814000	0.968580	0.563000	0.778840	CGC		TCGA-HV-A5A4-01A-11D-A26I-08	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	1	0	1	107	355	0	44	0	1	0	194	0	44	2		0	0	0	0	0	2	1	1.000000	106	352	0	43	2		0	0	0	0	44	2	-4.326728	1	1	0	0		1	0	0	0	2.000883	0	0.560000	2	0.560000	0.820000	0.690000	0.960000	0.820000	0.829616	0.820000	0	7.500000e-01	9.000000e-01
ATP10B	23120	broad.mit.edu	37	5	160063232	160063232	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:160063232A>T	ENST00000327245.5	-	11	1931	c.1085T>A	c.(1084-1086)cTt>cAt	p.L362H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B			75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GAAGCCCCCAAGGGCACTGGG	0.522000																								0							SO:0001583	missense			ENST00000327245.5	1	0	hg19	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	A	16.850000	3.236676	0.588860	.	.	ENSG00000118322	ENST00000327245	D	0.88818	-2.43	5.180000	5.180000	0.714440	ATPase, P-type, ATPase-associated domain (1);	0.072522	0.56097	D	0.000029	D	0.94853	0.8337	M	0.88241	2.94	0.584320	D	0.999998	D;D;D;D	0.76494	0.998;0.967;0.999;0.999	D;P;D;D	0.71870	0.967;0.881;0.967;0.975	D	0.95432	0.8517	9	.	.	.	.	14.542600	0.680050	1.0:0.0:0.0:0.0	.	406;362;334;362	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	H	362	ENSP00000313600:L362H	.	L	-	2	0	ATP10B	159995810	1	0.714170	1.400000e-01	0.222210	0.752000	0.427620	5.287000	0.656450	2.087000	0.629580	0.454000	0.307480	CTT		TCGA-HV-A5A4-01A-11D-A26I-08	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	1	0	0	38	250	0	44	0	5.026565e-02	0	3	0	44	2		0	0	0	0	0	2	1	1.000000	49	249	0	44	2		0	0	0	0	44	2	-20.000000	1	0	0	0		1	0	0	0	2.000883	0	0.560000	2	0.560000	0.470000	0.340000	0.620000	0.470000	0.478979	0.470000	0	4.000000e-01	5.500000e-01
ATP10B	23120	broad.mit.edu	37	5	160063251	160063251	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:160063251T>A	ENST00000327245.5	-	11	1912	c.1066A>T	c.(1066-1068)Agc>Tgc	p.S356C	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B			75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GGAAGGAAGCTGCCATTGGCA	0.527000																								0							SO:0001583	missense			ENST00000327245.5	1	0	hg19	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	15.890000	2.967852	0.535070	.	.	ENSG00000118322	ENST00000327245	T	0.50001	0.76	5.180000	-2.040000	0.073430	ATPase, P-type, ATPase-associated domain (1);	0.959783	0.08779	N	0.895025	T	0.54711	0.1875	L	0.59967	1.855	0.093100	N	1.000000	D;D;D;D	0.57899	0.973;0.981;0.967;0.978	P;P;P;P	0.61275	0.886;0.818;0.818;0.75	T	0.48490	-0.9031	9	.	.	.	.	5.290000	0.157210	0.0:0.2169:0.2542:0.5289	.	400;356;328;356	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	C	356	ENSP00000313600:S356C	.	S	-	1	0	ATP10B	159995829	0	0.058580	8.000000e-03	0.141370	0.485000	0.333110	-0.543000	0.060840	-0.507000	0.065490	0.454000	0.307480	AGC		TCGA-HV-A5A4-01A-11D-A26I-08	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	1	0	0	12	238	0	44	0	8.226738e-03	1	2	0	44	2		0	0	0	0	0	2	0	0.998811	0	235	0	44	2		0	0	0	0	44	2	-14.787640	1	0	0	0		1	0	0	0	2.000883	0	0.560000	2	0.560000	0.170000	0.090000	0.280000	0.170000	0.183647	0.170000	0	1.200000e-01	2.300000e-01
DOCK2	1794	broad.mit.edu	37	5	169509808	169509808	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:169509808C>A	ENST00000256935.8	+	52	5519	c.5439C>A	c.(5437-5439)agC>agA	p.S1813R	DOCK2_ENST00000520908.1_Missense_Mutation_p.S1305R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.S874R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2			160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		AGCTGGCCAGCAAATCGGCTG	0.512000																								0							SO:0001583	missense			ENST00000256935.8	1	1	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	13.900000	2.374649	0.421050	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09350	3.65;3.27;2.99	4.300000	4.300000	0.512180	.	0.413850	0.25622	N	0.029413	T	0.07098	0.0180	N	0.14661	0.345	0.326120	N	0.524500	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.06338	-1.0832	10	0.37606	T	0.19	.	12.478300	0.558270	0.0:1.0:0.0:0.0	.	1305;369;1813	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	R	1813;1305;874	ENSP00000256935:S1813R;ENSP00000429283:S1305R;ENSP00000438827:S874R	ENSP00000256935:S1813R	S	+	3	2	DOCK2	169442386	1	0.714170	9.980000e-01	0.565050	0.657000	0.388880	3.201000	0.510590	2.407000	0.817760	0.650000	0.862430	AGC		TCGA-HV-A5A4-01A-11D-A26I-08	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	0	24	223	0	30	0	9.175972e-01	0	42	0	30	2		0	0	0	0	0	2	1	1.000000	24	221	0	30	2		0	0	0	0	30	2	-10.081910	1	1	0	0		1	0	0	0	2.000883	0	0.560000	2	0.560000	0.340000	0.220000	0.490000	0.340000	0.357428	0.340000	0	2.800000e-01	4.200000e-01
SYNE1	23345	broad.mit.edu	37	6	152614868	152614868	+	Missense_Mutation	SNP	C	C	T	rs80265744	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:152614868C>T	ENST00000367255.5	-	95	18468	c.17867G>A	c.(17866-17868)cGc>cAc	p.R5956H	SYNE1_ENST00000341594.5_Missense_Mutation_p.R5568H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5956H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R480H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5885H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		ATAGAGTGTGCGCTGCTTCTC	0.468000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	C	21.600000	4.166008	0.783390	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.370000	5.370000	0.771650	.	0.000000	0.52532	D	0.000064	T	0.51024	0.1650	L	0.57536	1.79	0.466780	D	0.999154	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.74674	0.845;0.964;0.964;0.984	T	0.52403	-0.8580	10	0.62326	D	0.03	.	19.116300	0.933430	0.0:1.0:0.0:0.0	.	371;5956;5956;5885	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	5956;5885;5956;5885;5568;480;131;178	ENSP00000356224:R5956H;ENSP00000396024:R5885H;ENSP00000265368:R5956H;ENSP00000390975:R5885H;ENSP00000341887:R5568H;ENSP00000349276:R480H;ENSP00000437411:R131H	ENSP00000265368:R5956H	R	-	2	0	SYNE1	152656561	9.730000e-01	0.338510	9.870000e-01	0.457990	0.984000	0.730920	2.334000	0.439200	2.488000	0.839620	0.655000	0.942530	CGC		TCGA-HV-A5A4-01A-11D-A26I-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	155	405	0	49	0	8.100668e-01	0	10	0	49	2		0	0	0	0	0	2	1	1.000000	155	403	0	48	2		0	0	0	0	49	2	-8.328959	1	1	121412	42	47	1	0	0	0	1.981248	0	0.560000	2	0.557522	0.970000	0.840000	1.000000	1.000000	0.964534	0.970000	1	9.100000e-01	1
BRD2	6046	broad.mit.edu	37	6	32944179	32944179	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:32944179C>T	ENST00000374825.4	+	6	2464	c.763C>T	c.(763-765)Cac>Tac	p.H255Y	BRD2_ENST00000395289.2_Missense_Mutation_p.H255Y|BRD2_ENST00000374831.4_Missense_Mutation_p.H255Y|BRD2_ENST00000443797.2_Missense_Mutation_p.H135Y|BRD2_ENST00000449085.2_Missense_Mutation_p.H208Y|BRD2_ENST00000395287.1_Missense_Mutation_p.H255Y	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2			5					CAAGTCCTTGCACTCTGCTGG	0.562000																								0							SO:0001583	missense			ENST00000374825.4	1	1	hg19	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	7.346000	0.621976	0.141930	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.07800	3.35;3.35;3.35;3.16;3.35;3.32	5.630000	5.630000	0.862330	.	0.000000	0.50627	D	0.000111	T	0.09158	0.0226	L	0.55481	1.735	0.584320	D	0.999993	P;P	0.41188	0.741;0.7	P;B	0.45232	0.474;0.082	T	0.01935	-1.1244	10	0.51188	T	0.08	-17.7006	17.544900	0.878580	0.0:1.0:0.0:0.0	.	255;255	A2AAU0;P25440	.;BRD2_HUMAN	Y	255;255;255;135;255;208	ENSP00000363958:H255Y;ENSP00000363964:H255Y;ENSP00000378704:H255Y;ENSP00000413495:H135Y;ENSP00000378702:H255Y;ENSP00000409145:H208Y	ENSP00000363958:H255Y	H	+	1	0	BRD2	33052157	1	0.714170	1	0.803570	0.968000	0.652780	4.175000	0.582630	2.815000	0.969180	0.643000	0.837060	CAC		TCGA-HV-A5A4-01A-11D-A26I-08	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2	1	0	1	151	432	0	63	1	1	74	177	0	63	2		0	0	0	0	0	2	1	1.000000	148	431	0	61	2		0	0	0	0	63	2	-20.000000	1	1	0	0		1	0	0	0	1.981248	0	0.560000	2	0.557522	0.910000	0.790000	1.000000	1.000000	0.917765	0.910000	1	8.500000e-01	9.800000e-01
BACH2	60468	broad.mit.edu	37	6	90660535	90660535	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:90660535G>A	ENST00000257749.4	-	7	1997	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.S430S|BACH2_ENST00000343122.3_Silent_p.S430S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2			45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)			AGAAGATCACGCTCCTCCGGT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000257749.4	1	1	hg19	CCDS5026.1																																																																																				TCGA-HV-A5A4-01A-11D-A26I-08	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	1	0	0	80	286	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	1.000000	80	285	0	56	2		0	0	0	0	56	2	-20.000000	1	1	0	0		1	0	0	0	1.981248	0	0.560000	2	0.557522	0.770000	0.620000	0.920000	0.770000	0.779926	0.770000	0	6.900000e-01	8.500000e-01
TNRC18	84629	broad.mit.edu	37	7	5410118	5410118	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:5410118C>A	ENST00000430969.1	-	11	4455	c.4107G>T	c.(4105-4107)gaG>gaT	p.E1369D	TNRC18_ENST00000399537.4_Missense_Mutation_p.E1369D	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18			11		Ovarian(82;0.142)			CTTCCAGCTTCTCCAAGGCCT	0.662000																								0							SO:0001583	missense			ENST00000430969.1	0	1	hg19	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	8.565000	0.878582	0.173950	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.12039	2.72;2.72	4.720000	3.840000	0.442390	.	0.000000	0.33916	N	0.004428	T	0.16769	0.0403	M	0.67953	2.075	0.307830	N	0.741791	P	0.50528	0.936	B	0.42462	0.388	T	0.10683	-1.0619	10	0.37606	T	0.19	.	11.064900	0.479700	0.0:0.9125:0.0:0.0875	.	1369	O15417	TNC18_HUMAN	D	1369;1369;424;424	ENSP00000382452:E1369D;ENSP00000395538:E1369D	ENSP00000330383:E424D	E	-	3	2	TNRC18	5376644	9.740000e-01	0.339450	8.610000e-01	0.338410	0.317000	0.281520	1.132000	0.314180	0.979000	0.384970	0.313000	0.208870	GAG		TCGA-HV-A5A4-01A-11D-A26I-08	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	14	38	0	8	1	9.999860e-01	24	43	0	8	2		0	0	0	0	0	2	1	0.999891	14	38	0	8	2		0	0	0	0	8	2	-20.000000	1	1	0	0		1	1	2	3	2.006727	0	0.560000	2	0.561229	0.960000	0.580000	1.000000	1.000000	0.904234	0.960000	1	7.600000e-01	1
MAGI2	9863	broad.mit.edu	37	7	78636417	78636417	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:78636417C>T	ENST00000354212.4	-	2	660	c.407G>A	c.(406-408)cGc>cAc	p.R136H	MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H|MAGI2-AS2_ENST00000411616.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2			84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)			TGGCACCGTGCGGAGGTAGAG	0.373000																								0							SO:0001583	missense			ENST00000354212.4	1	1	hg19	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	17.350000	3.367062	0.615130	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.41758	0.99;0.99;0.99	5.290000	5.290000	0.746850	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.53400	0.1794	L	0.31926	0.97	0.807220	D	1.000000	D;D	0.89917	0.958;1.0	P;D	0.91635	0.493;0.999	T	0.42481	-0.9449	9	0.21540	T	0.41	.	17.919900	0.889630	0.0:1.0:0.0:0.0	.	136;136	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	H	136	ENSP00000405766:R136H;ENSP00000346151:R136H;ENSP00000428389:R136H	ENSP00000346151:R136H	R	-	2	0	MAGI2	78474353	1	0.714170	1	0.803570	0.993000	0.825480	7.683000	0.840930	2.470000	0.834450	0.637000	0.834800	CGC		TCGA-HV-A5A4-01A-11D-A26I-08	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	1	179	415	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1.000000	178	413	0	39	2		0	0	0	0	41	2	-20.000000	1	1	0	0		1	1	2	3	2.006727	0	0.560000	2	0.561229	0.990000	0.940000	1.000000	1.000000	0.996283	0.990000	1	9.900000e-01	1
CYP3A5	1577	broad.mit.edu	37	7	99258126	99258126	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:99258126T>C	ENST00000222982.4	-	10	1121	c.1022A>G	c.(1021-1023)aAt>aGt	p.N341S	CYP3A5_ENST00000343703.5_Missense_Mutation_p.N331S|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5			16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)			ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCTCACCTTATTGGGCAAAAC	0.458000																								0							SO:0001583	missense			ENST00000222982.4	1	1	hg19	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	T	11.110000	1.543326	0.275630	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.67523	-0.27;-0.27	4.510000	2.070000	0.269550	.	0.240715	0.46442	D	0.000298	T	0.54647	0.1871	L	0.43757	1.38	0.807220	D	1.000000	B;B	0.17038	0.02;0.012	B;B	0.19391	0.015;0.025	T	0.47849	-0.9085	10	0.62326	D	0.03	.	7.190800	0.258240	0.0:0.1948:0.0:0.8052	.	331;341	F5H4S0;P20815	.;CP3A5_HUMAN	S	341;331	ENSP00000222982:N341S;ENSP00000342969:N331S	ENSP00000222982:N341S	N	-	2	0	CYP3A5	99096062	1	0.714170	9.980000e-01	0.565050	0.488000	0.334010	3.836000	0.558130	0.133000	0.186540	0.528000	0.532280	AAT		TCGA-HV-A5A4-01A-11D-A26I-08	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1	1	0	1	198	455	0	63	1	1	327	381	0	63	2		0	0	0	0	0	2	1	1.000000	197	452	0	63	2		0	0	0	0	63	2	-20.000000	1	1	121412	1	37	1	1	2	3	2.006727	0	0.560000	2	0.561229	0.990000	0.950000	1.000000	1.000000	0.997466	0.990000	1	9.900000e-01	1
CACNA1B	774	broad.mit.edu	37	9	140919489	140919489	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:140919489G>A	ENST00000371372.1	+	20	3296	c.3151G>A	c.(3151-3153)Gtg>Atg	p.V1051M	CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371367.5_Missense_Mutation_p.V35M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V243M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1052M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1052M|CACNA1B_ENST00000545473.1_Missense_Mutation_p.V35M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit			80	all_cancers(76;0.166)			Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTCCAGAAGGTGGAGGAACA	0.562000																								0							SO:0001583	missense			ENST00000371372.1	1	1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	18.340000	3.602173	0.664450	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371367;ENST00000545473	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.020000	5.020000	0.671250	.	10.830000	0.00166	N	0.000000	T	0.56124	0.1964	L	0.42245	1.32	0.369250	D	0.891580	D;D;D	0.55172	0.97;0.97;0.97	P;P;P	0.54889	0.682;0.763;0.682	T	0.35201	-0.9798	10	0.48119	T	0.1	.	13.326700	0.604630	0.0:0.0:0.842:0.158	.	1051;1052;1051	B1AQK4;B1AQK7;B1AQK6	.;.;.	M	1051;1051;243;1051;1052;1052;35;35	ENSP00000360423:V1051M;ENSP00000277551:V1051M;ENSP00000277549:V243M;ENSP00000360414:V1051M;ENSP00000360408:V1052M;ENSP00000360406:V1052M;ENSP00000360418:V35M;ENSP00000441232:V35M	ENSP00000277549:V243M	V	+	1	0	CACNA1B	140039310	1	0.714170	1	0.803570	0.988000	0.763860	3.321000	0.519990	2.327000	0.790520	0.561000	0.740990	GTG		TCGA-HV-A5A4-01A-11D-A26I-08	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1	19	74	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	0.999995	19	73	0	12	2		0	0	0	0	12	2	-20.000000	1	1	0	0		1	1	2	3	2.013390	0	0.560000	2	0.561229	0.730000	0.470000	1.000000	1.000000	0.743961	0.730000	0	5.900000e-01	8.900000e-01
C9orf66	157983	broad.mit.edu	37	9	215392	215392	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:215392C>T	ENST00000382387.2	-	1	501	c.5G>A	c.(4-6)aGa>aAa	p.R2K	DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66			4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)		CACGGAGTGTCTCATAAACGG	0.597000																								0							SO:0001583	missense			ENST00000382387.2	1	1	hg19	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	C	10.030000	1.237657	0.227110	.	.	ENSG00000183784	ENST00000382387	T	0.21932	1.98	3.020000	2.080000	0.270320	.	.	.	.	.	T	0.11537	0.0281	N	0.08118	0	0.193000	N	0.999970	B	0.32573	0.376	B	0.37267	0.245	T	0.24870	-1.0148	9	0.87932	D	0	.	5.389000	0.162340	0.0:0.8357:0.0:0.1643	.	2	Q5T8R8	CI066_HUMAN	K	2	ENSP00000371824:R2K	ENSP00000371824:R2K	R	-	2	0	C9orf66	205392	2.100000e-02	0.187460	1.000000e-03	0.086480	0.032000	0.123920	0.775000	0.266890	0.806000	0.341830	0.462000	0.415740	AGA		TCGA-HV-A5A4-01A-11D-A26I-08	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	1	0	0	86	243	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1.000000	86	242	0	48	2		0	0	0	0	48	2	-20.000000	1	1	0	0		1						0.560000	2									0	0
NOL8	55035	broad.mit.edu	37	9	95077968	95077968	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:95077968C>T	ENST00000535387.1	-	6	938	c.939G>A	c.(937-939)gcG>gcA	p.A313A	NOL8_ENST00000358855.4_Silent_p.A245A|NOL8_ENST00000545558.1_Silent_p.A313A|NOL8_ENST00000542053.1_Silent_p.A245A|NOL8_ENST00000442668.2_Silent_p.A313A					nucleolar protein 8			16					TTTCCTCTTTCGCAATCATCA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000535387.1	1	1	hg19	CCDS47993.1																																																																																				TCGA-HV-A5A4-01A-11D-A26I-08	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	1	0	0	47	101	0	10	1	9.978953e-01	8	16	0	10	2		0	0	0	0	0	2	1	1.000000	47	100	0	10	2		0	0	0	0	10	2	-20.000000	1	1	120782	15	39	1	0	0	0	1.988549	0	0.560000	2	0.557522	0.990000	0.870000	1.000000	1.000000	0.988896	0.990000	1	9.900000e-01	1
ZCCHC16	340595	broad.mit.edu	37	X	111697971	111697971	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:111697971G>A	ENST00000340433.2	+	1	245	c.15G>A	c.(13-15)acG>acA	p.T5T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16			27					AGAAGTGCACGAAATCATCAT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000340433.2	1	1	hg19	CCDS35369.1																																																																																				TCGA-HV-A5A4-01A-11D-A26I-08	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	1	0	1	197	604	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1.000000	196	602	0	96	2		0	0	0	0	96	2	-6.478828	1	1	121136	5	40	1	0	1	1			0.560000	2	0.560000	0.870000	0.760000	0.980000	0.880000	0.879432	0.870000	1	8.100000e-01	9.300000e-01
VGLL1	51442	broad.mit.edu	37	X	135618242	135618242	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:135618242G>A	ENST00000370634.3	+	2	233	c.63G>A	c.(61-63)acG>acA	p.T21T		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	p.T21T(1)		20	Acute lymphoblastic leukemia(192;0.000127)				CTATAAAGACGGAATGGAATT	0.493000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000370634.3	1	1	hg19	CCDS14658.1																																																																																				TCGA-HV-A5A4-01A-11D-A26I-08	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	1	0	1	206	523	0	75	0	8.046467e-02	0	2	0	75	2		0	0	0	0	0	2	1	1.000000	206	516	0	74	2		0	0	0	0	75	2	-10.310530	1	1	121410	4	36	1	0	1	1			0.560000	2	0.560000	0.990000	0.880000	1.000000	1.000000	0.980924	0.990000	1	9.400000e-01	1
