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	7579320	7579321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:7579320_7579321insC	ENST00000269305.4	-	4	555_556	c.366_367insG	c.(364-369)gtgactfs	p.T123fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.T123fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.T123fs	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.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ACCGTGCAAGTCACAGACTTGG	0.550000		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	24	Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(2)						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-IB-AAUU-01A-11D-A377-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	48	280	0	74	0	8.504663e-01	0	22	0	74	2	1	9.994585e-01	18	50	0	55	2	1	1	49	276	0	76	2	0	0	0	0	0	0		-3.145735	1	1	0	0		1	0	1	1	1.363146	1	0.370000	3.300000	0.226994	0.630000	4.800000e-01	0.810000	0.640000	0.647331	0.630000	0	0.550000	0.730000
ZNF566	84924	broad.mit.edu	37	19	36940853	36940853	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:36940853delA	ENST00000434377.2	-	5	364	c.283delT	c.(283-285)tatfs	p.Y95fs	ZNF566_ENST00000454319.1_Frame_Shift_Del_p.Y96fs|ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000424129.2_Frame_Shift_Del_p.Y95fs|ZNF566_ENST00000392170.2_Frame_Shift_Del_p.Y96fs	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566			24	Esophageal squamous(110;0.162)				TCTATTTCATAAATTTCTTTC	0.348000																								0							SO:0001589	frameshift_variant			ENST00000434377.2	1	0	hg19	CCDS12494.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	1	0	0	94	892	0	191	0	1.072795e-01	1	5	0	191	2			0	0	0	0		1	9.932648e-01	132	880	9	189	67	0	0	0	0	0	0		-20.000000	1	1	0	0		1	2	4	6	2.429890	1	0.370000	3.300000	0.578821	0.790000	6.300000e-01	1.000000	0.760000	0.824389	0.790000	0	0.700000	1.000000
HIST1H1B	3009	broad.mit.edu	37	6	27834834	27834845	+	In_Frame_Del	DEL	CTTCTTCGGAGT	CTTCTTCGGAGT	-	rs143393068	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:27834834_27834845delCTTCTTCGGAGT	ENST00000331442.3	-	1	514_525	c.463_474delACTCCGAAGAAG	c.(463-474)actccgaagaagdel	p.TPKK155del		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b			24					GCTTCTTCGCCTTCTTCGGAGTCTTCTTCACT	0.599000																								0							SO:0001651	inframe_deletion			ENST00000331442.3	1	1	hg19	CCDS4635.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	1	0	0	70	1034	0	197			0	0	0	197				0	0	0	0		1	5.591003e-03	169	1124	16	210	119	0	0	0	0	0	0		-11.622140	1	1	0	0		1	1	2	3	1.637296	0	0.370000	3.300000	0.376916	0.340000	2.600000e-01	1.000000	0.350000	0.380840	0.340000	0	0.300000	0.400000
PDCD11	22984	broad.mit.edu	37	10	105182763	105182763	+	Missense_Mutation	SNP	C	C	T	rs142899352		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:105182763C>T	ENST00000369797.3	+	18	2610	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	p.T839M(1)		64		Colorectal(252;0.0747)|Breast(234;0.128)			TTGATCCAGACGCTGGCCGAG	0.527000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000369797.3	1	1	hg19	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669172	0.47677	2.27E-4	0.0	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10288	2.89	5.95	5.04	0.67666	.	0.388932	0.31092	N	0.008272	T	0.12646	0.0307	L	0.51422	1.61	0.35143	D	0.769016	D	0.67145	0.996	B	0.44163	0.443	T	0.07616	-1.0763	10	0.45353	T	0.12	-14.7673	11.5381	0.50651	0.0:0.9178:0.0:0.0822	.	839	Q14690	RRP5_HUMAN	M	839	ENSP00000358812:T839M	ENSP00000358812:T839M	T	+	2	0	PDCD11	105172753	0.029000	0.19370	0.968000	0.41197	0.402000	0.30811	0.122000	0.15687	2.826000	0.97356	0.491000	0.48974	ACG		TCGA-IB-AAUU-01A-11D-A377-08	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	1	0	1	41	270	0	48	1	8.839784e-01	5	22	0	48	2		0	0	0	0	0	2	1	1	40	267	0	48	2		0	0	0	0	48	2	-18.301170	1	1	121374	4	39	1	2	2	4	2.262088	1	0.370000	3.300000	0.540146	0.970000	7.200000e-01	1.000000	1.000000	0.938249	0.970000	1	0.840000	1.000000
FAM160B1	57700	broad.mit.edu	37	10	116608431	116608431	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:116608431G>A	ENST00000369248.4	+	13	2073	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A580T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1			25					ACCGGATGACGCAAAATCCTC	0.403000																								0							SO:0001583	missense			ENST00000369248.4	0	1	hg19	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609124	0.87258	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.16457	2.36;2.34	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	L	0.49126	1.545	0.80722	D	1	D;P	0.56287	0.975;0.598	P;B	0.54100	0.742;0.06	T	0.00849	-1.1541	10	0.15952	T	0.53	-23.8406	19.9439	0.97175	0.0:0.0:1.0:0.0	.	580;580	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	T	580	ENSP00000358251:A580T;ENSP00000358253:A580T	ENSP00000358251:A580T	A	+	1	0	FAM160B1	116598421	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.477000	0.97925	2.797000	0.96272	0.561000	0.74099	GCA		TCGA-IB-AAUU-01A-11D-A377-08	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	0	0	0	4	259	0	43	0	4.961700e-02	0	18	0	43	2		0	0	0	0	0	2	1	8.874457e-01	4	255	0	42	2		0	0	0	0	43	2	-2.936984	1	1	0	0		1	2	2	4	2.262088	1	0.370000	3.300000	0.540146	0.120000	3.000000e-02	0.270000	0.120000	0.139136	0.120000	0	0.070000	0.200000
SLC18A3	6572	broad.mit.edu	37	10	50819803	50819803	+	Silent	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:50819803G>T	ENST00000374115.3	+	1	1457	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3			43					TGCCTCATGTGCTGGGCGTCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000374115.3	1	1	hg19	CCDS7231.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	1	0	1	72	538	0	88	0	1.439934e-02	0	2	0	88	2		0	0	0	0	0	2	1	1	69	529	0	87	2		0	0	0	0	88	2	-20.000000	1	1	0	0		1	2	2	4	2.262088	1	0.370000	3.300000	0.540146	0.870000	6.900000e-01	1.000000	1.000000	0.875944	0.870000	1	0.770000	0.980000
CTNNA3	29119	broad.mit.edu	37	10	68940134	68940134	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:68940134C>T	ENST00000433211.2	-	7	1162	c.988G>A	c.(988-990)Gca>Aca	p.A330T	CTNNA3_ENST00000545309.1_Missense_Mutation_p.A330T|CTNNA3_ENST00000373744.4_Missense_Mutation_p.A330T	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3			95					TTGCATTCTGCGATAATCCGC	0.527000																								0							SO:0001583	missense			ENST00000433211.2	1	1	hg19	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441070	0.63067	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.44083	1.38;1.38;0.93	5.83	3.75	0.43078	.	0.123947	0.35349	N	0.003278	T	0.45558	0.1348	M	0.86178	2.8	0.44234	D	0.997079	B;B;B;B	0.21821	0.013;0.033;0.061;0.031	B;B;B;B	0.25759	0.018;0.03;0.063;0.012	T	0.50541	-0.8816	10	0.54805	T	0.06	-7.2666	7.2252	0.26012	0.0:0.7176:0.0:0.2824	.	330;330;330;330	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	T	330	ENSP00000389714:A330T;ENSP00000362849:A330T;ENSP00000441444:A330T	ENSP00000362849:A330T	A	-	1	0	CTNNA3	68610140	0.971000	0.33674	0.957000	0.39632	0.910000	0.53928	2.199000	0.42715	1.458000	0.47871	0.585000	0.79938	GCA		TCGA-IB-AAUU-01A-11D-A377-08	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	0	0	0	11	331	0	58	0	3.097623e-02	0	8	0	58	2		0	0	0	0	0	2	1	9.982917e-01	11	327	0	55	2		0	0	0	0	58	2	-2.878262	1	1	121404	5	40	1	2	2	4	2.262088	1	0.370000	3.300000	0.540146	0.240000	1.200000e-01	0.410000	0.240000	0.257692	0.240000	0	0.170000	0.330000
MARCH5	54708	broad.mit.edu	37	10	94110927	94110927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:94110927G>A	ENST00000358935.2	+	6	1132	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5			9					CAGGCACACCGCAAAATTCTG	0.353000																								0							SO:0001583	missense			ENST00000358935.2	0	1	hg19	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627017	0.87560	.	.	ENSG00000198060	ENST00000358935	T	0.70986	-0.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88657	0.3186	10	0.87932	D	0	-4.1613	19.6604	0.95864	0.0:0.0:1.0:0.0	.	267	Q9NX47	MARH5_HUMAN	H	267	ENSP00000351813:R267H	ENSP00000351813:R267H	R	+	2	0	MARCH5	94100907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.648000	0.89879	0.655000	0.94253	CGC		TCGA-IB-AAUU-01A-11D-A377-08	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	0	0	0	6	726	0	129	0	2.840820e-01	0	111	0	129	2		0	0	0	0	0	2	1	9.627546e-01	7	710	0	128	2		0	0	0	0	129	2	-2.111543	0	1	0	0		1	2	2	4	2.262088	1	0.370000	3.300000	0.540146	0.060000	0	0.130000	0.080000	0.069162	0.060000	0	0.030000	0.100000
POU2AF1	5450	broad.mit.edu	37	11	111225288	111225288	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:111225288C>T	ENST00000393067.3	-	5	983	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1			5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)			GCGGGCGTGGCGGAGCTTCTT	0.642000			T	BCL6	NHL										Dom	yes		11	11q23.1	5450	POU domain, class 2, associating factor 1 (OBF1)		L	0							SO:0001583	missense			ENST00000393067.3	0	1	hg19	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578757	0.65878	.	.	ENSG00000110777	ENST00000393067	T	0.30448	1.53	4.87	1.8	0.24995	.	0.529845	0.18793	N	0.131018	T	0.26085	0.0636	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.23084	-1.0198	10	0.51188	T	0.08	-25.8385	5.1776	0.15143	0.1407:0.6002:0.0:0.259	.	157	Q16633	OBF1_HUMAN	T	157	ENSP00000376786:A157T	ENSP00000376786:A157T	A	-	1	0	POU2AF1	110730498	0.018000	0.18449	0.001000	0.08648	0.845000	0.48019	0.185000	0.16958	0.189000	0.20188	0.563000	0.77884	GCC		TCGA-IB-AAUU-01A-11D-A377-08	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	0	0	0	6	24	0	18	0	0	0	1	0	18	2		0	0	0	0	0	2	1	9.705328e-01	6	24	0	17	2		0	0	0	0	18	2	-13.682250	1	1	120900	1	25	1	1	2	3	1.932710	1	0.370000	3.300000	0.468354	0.990000	5.800000e-01	1.000000	1.000000	0.954701	0.990000	1	0.900000	1.000000
PCSK7	9159	broad.mit.edu	37	11	117090363	117090363	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:117090363G>A	ENST00000320934.3	-	10	1897	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7			16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)			AGGCAGGGCCGCACCTGCAGC	0.627000			T	IGH@	MLCLS										Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0							SO:0001583	missense			ENST00000320934.3	0	1	hg19	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802841	0.90623	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	D;D	0.87887	-2.31;-2.31	5.69	4.7	0.59300	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94305	0.8170	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94972	0.8118	10	0.72032	D	0.01	-34.1224	16.525	0.84328	0.0:0.0:0.8607:0.1393	.	423	Q16549	PCSK7_HUMAN	W	423;64;423	ENSP00000325917:R423W;ENSP00000441944:R64W	ENSP00000325917:R423W	R	-	1	2	PCSK7	116595573	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.085000	0.71343	2.696000	0.92011	0.557000	0.71058	CGG		TCGA-IB-AAUU-01A-11D-A377-08	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	0	0	0	4	222	0	34	0	5.459129e-01	0	90	0	34	2		0	0	0	0	0	2	1	8.890555e-01	4	220	0	34	2		0	0	0	0	34	2	-2.995169	1	1	0	0		1	1	2	3	1.932710	1	0.370000	3.300000	0.468354	0.120000	3.000000e-02	0.270000	0.120000	0.139730	0.120000	0	0.070000	0.200000
LRRC55	219527	broad.mit.edu	37	11	56950145	56950145	+	Missense_Mutation	SNP	C	C	T	rs143027441	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:56950145C>T	ENST00000497933.1	+	1	925	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	p.R260C(1)		25					CCGGATCCAGCGCTGTACAGC	0.607000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000497933.1	1	1	hg19	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421766	0.62622	2.27E-4	1.16E-4	ENSG00000183908	ENST00000497933	T	0.22743	1.94	5.53	5.53	0.82687	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000016	T	0.33411	0.0862	L	0.43923	1.385	0.58432	D	0.999998	D	0.89917	1.0	P	0.55871	0.786	T	0.01363	-1.1374	10	0.54805	T	0.06	.	16.3896	0.83531	0.0:1.0:0.0:0.0	.	230	Q6ZSA7	LRC55_HUMAN	C	260	ENSP00000419542:R260C	ENSP00000419542:R260C	R	+	1	0	LRRC55	56706721	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.663000	0.37429	2.608000	0.88229	0.561000	0.74099	CGC		TCGA-IB-AAUU-01A-11D-A377-08	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	1	0	1	53	384	0	67	0	7.739058e-02	0	4	0	67	2		0	0	0	0	0	2	1	1	52	375	0	67	2		0	0	0	0	67	2	-19.878260	1	1	0	0		1	2	2	4	2.222719	1	0.370000	3.300000	0.540146	0.890000	6.800000e-01	1.000000	1.000000	0.893641	0.890000	1	0.780000	1.000000
STIP1	10963	broad.mit.edu	37	11	63971050	63971050	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:63971050C>T	ENST00000305218.4	+	13	1662	c.1515C>T	c.(1513-1515)cgC>cgT	p.R505R	STIP1_ENST00000358794.5_Silent_p.R552R|STIP1_ENST00000538945.1_Silent_p.R481R	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1			27					CAGCCATGCGCCTTATCCTGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000305218.4	1	1	hg19	CCDS8058.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	1	0	1	54	135	0	28	1	1	220	227	0	28	2		0	0	0	0	0	2	1	1	54	131	0	28	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	1	2	3	1.932710	1	0.370000	3.300000	0.468354	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MUS81	80198	broad.mit.edu	37	11	65630663	65630663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:65630663G>A	ENST00000308110.4	+	7	1082	c.733G>A	c.(733-735)Gct>Act	p.A245T	MUS81_ENST00000533035.1_Missense_Mutation_p.A170T|CFL1_ENST00000534769.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit			13					GCCAGGAGCAGCTTCAGCAGA	0.637000								Homologous recombination																0							SO:0001583	missense			ENST00000308110.4	1	1	hg19	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.761|9.761	1.170193|1.170193	0.21621|0.21621	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855|ENST00000529374;ENST00000530111	T;T|.	0.14766|.	2.48;2.72|.	5.11|5.11	1.93|1.93	0.25924|0.25924	.|.	0.824135|.	0.11566|.	N|.	0.551224|.	T|T	0.34571|0.34571	0.0902|0.0902	L|L	0.41236|0.41236	1.265|1.265	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.21655|0.21655	-1.0239|-1.0239	10|5	0.08599|.	T|.	0.76|.	-6.8355|-6.8355	5.7461|5.7461	0.18120|0.18120	0.1806:0.0:0.6625:0.1569|0.1806:0.0:0.6625:0.1569	.|.	245|.	Q96NY9|.	MUS81_HUMAN|.	T|N	170;245;245|169;140	ENSP00000432287:A170T;ENSP00000307853:A245T|.	ENSP00000307853:A245T|.	A|S	+|+	1|2	0|0	MUS81|MUS81	65387239|65387239	0.107000|0.107000	0.21998|0.21998	0.073000|0.073000	0.20177|0.20177	0.212000|0.212000	0.24457|0.24457	1.083000|1.083000	0.30815|0.30815	1.138000|1.138000	0.42230|0.42230	0.556000|0.556000	0.70494|0.70494	GCT|AGC		TCGA-IB-AAUU-01A-11D-A377-08	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	1	0	1	42	116	0	40	1	1	43	49	0	40	2		0	0	0	0	0	2	1	1	42	112	0	38	2		0	0	0	0	40	2	-20.000000	1	1	0	0		1	1	2	3	1.932710	1	0.370000	3.300000	0.468354	0.990000	9.900000e-01	1.000000	1.000000	0.999992	0.990000	1	0.990000	1.000000
DDX55	57696	broad.mit.edu	37	12	124090516	124090516	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:124090516C>T	ENST00000238146.4	+	2	197	c.147C>T	c.(145-147)gtC>gtT	p.V49V	DDX55_ENST00000538744.1_Silent_p.V49V	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55			14	all_neural(191;0.101)|Medulloblastoma(191;0.163)				ACAAAGATGTCGCTGCAGAAG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000238146.4	0	1	hg19	CCDS9251.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2	0	0	0	5	488	0	108	0	2.436109e-02	0	19	0	108	2		0	0	0	0	0	2	1	9.351190e-01	5	480	0	108	2		0	0	0	0	108	2	-2.425857	0	1	121412	6	41	1	0	3	3	1.750386	1	0.370000	3.300000	0.445862	0.070000	1.000000e-02	1.000000	0.060000	0.244820	0.070000	0	0.040000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-IB-AAUU-01A-11D-A377-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	70	233	0	67	1	9.967793e-01	17	15	0	67	2	1	1	93	272	0	347	2	1	1	69	232	0	67	2	1	1	2913	5108	0	67	2	-20.000000	1	1	0	0		1	2	5	7	2.124773	1	0.370000	3.300000	0.520730	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MYF5	4617	broad.mit.edu	37	12	81110965	81110965	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:81110965G>A	ENST00000228644.3	+	1	275	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5			30					CCTTCGGAGCGCACAAAGCAG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000228644.3	0	1	hg19	CCDS9020.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	0	0	0	4	165	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	8.899358e-01	4	164	0	36	2		0	0	0	0	38	2	-3.516685	1	1	0	0		1	0	3	3	1.750386	1	0.370000	3.300000	0.445862	0.180000	5.000000e-02	1.000000	0.140000	0.329815	0.180000	0	0.100000	1.000000
MYO16	23026	broad.mit.edu	37	13	109779791	109779791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr13:109779791G>A	ENST00000357550.2	+	30	3919	c.3878G>A	c.(3877-3879)cGg>cAg	p.R1293Q	MYO16_ENST00000356711.2_Missense_Mutation_p.R1293Q|MYO16_ENST00000457511.2_Missense_Mutation_p.R805Q	NM_001198950.1	NP_001185879.1			myosin XVI			121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		CCGTCTCCACGGAAACAGCCC	0.662000																								0							SO:0001583	missense			ENST00000357550.2	0	1	hg19	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064283	0.93898	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.50277	0.75;0.75;0.75	5.5	5.5	0.81552	.	0.000000	0.37178	U	0.002219	T	0.70684	0.3252	M	0.79258	2.445	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.71441	-0.4592	9	.	.	.	.	18.4132	0.90559	0.0:0.0:1.0:0.0	.	805;1293	F8W883;Q9Y6X6	.;MYO16_HUMAN	Q	1293;1293;805	ENSP00000349145:R1293Q;ENSP00000350160:R1293Q;ENSP00000401633:R805Q	.	R	+	2	0	MYO16	108577792	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	8.813000	0.91963	2.584000	0.87258	0.563000	0.77884	CGG		TCGA-IB-AAUU-01A-11D-A377-08	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	1	0	1	21	138	0	22	0	0	1	0	0	22	2		0	0	0	0	0	2	1	9.999983e-01	21	136	0	22	2		0	0	0	0	22	2	-20.000000	1	1	121410	1	28	1	2	2	4	2.202007	1	0.370000	3.300000	0.540146	0.980000	6.400000e-01	1.000000	1.000000	0.923909	0.980000	1	0.800000	1.000000
TFDP1	7027	broad.mit.edu	37	13	114277494	114277494	+	Splice_Site	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr13:114277494G>T	ENST00000375370.5	+	4	291		c.e4-1		TFDP1_ENST00000544902.1_Splice_Site|TFDP1_ENST00000465174.1_Splice_Site|TFDP1_ENST00000538138.1_Splice_Site	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1			26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)		TTGTGTTGCAGGCGTGGTGTC	0.532000										TSP Lung(29;0.18)														0							SO:0001630	splice_region_variant			ENST00000375370.5	0	1	hg19	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235800	0.39498	.	.	ENSG00000198176	ENST00000375370;ENST00000408980;ENST00000453989	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5431	0.87853	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TFDP1	113325495	1.000000	0.71417	0.997000	0.53966	0.174000	0.22865	8.046000	0.89438	2.125000	0.65367	0.491000	0.48974	.		TCGA-IB-AAUU-01A-11D-A377-08	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	0	0	0	4	76	0	11		0	0	0	0	11	2	0	0	0	1	0	0	2	0	8.728445e-01	0	74	0	11	2		0	0	0	0	11	2	-7.858123	1	0	0	0		1	2	2	4	2.202007	1	0.370000	3.300000	0.540146	0.410000	1.400000e-01	0.850000	0.360000	0.445690	0.410000	0	0.250000	0.630000
TOX4	9878	broad.mit.edu	37	14	21961173	21961173	+	Silent	SNP	T	T	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:21961173T>C	ENST00000405508.1	+	8	1674	c.1398T>C	c.(1396-1398)ccT>ccC	p.P466P	TOX4_ENST00000448790.2_Silent_p.P443P|TOX4_ENST00000262709.3_Silent_p.P466P			O94842	TOX4_HUMAN	TOX high mobility group box family member 4			18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)		TGCAGCAGCCTCCTCCACTCC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000405508.1	1	1	hg19	CCDS32043.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	1	0	1	53	563	0	106	1	9.999993e-01	29	189	0	106	2		0	0	0	0	0	2	1	1	52	552	0	103	2		0	0	0	0	106	2	-14.466900	1	1	0	0		1	2	2	4	2.205976	1	0.370000	3.300000	0.540146	0.630000	4.800000e-01	0.810000	0.640000	0.646191	0.630000	0	0.550000	0.730000
LTB4R2	56413	broad.mit.edu	37	14	24780173	24780173	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:24780173C>T	ENST00000528054.1	+	1	2013	c.396C>T	c.(394-396)tgC>tgT	p.C132C	CIDEB_ENST00000336557.5_5'UTR|CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000533293.1_Silent_p.C101C|LTB4R_ENST00000345363.3_5'Flank|CIDEB_ENST00000554411.1_5'Flank|LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Silent_p.C101C			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2			3					ACTACGTGTGCGCGCTCAGCA	0.721000																								0							SO:0001819	synonymous_variant			ENST00000528054.1	0	1	hg19																																																																																					TCGA-IB-AAUU-01A-11D-A377-08	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4	1	0	0	35	255	0	20	0	7.811230e-02	1	3	0	20	2		0	0	0	0	0	2	1	1	35	254	0	20	2		0	0	0	0	20	2	-20.000000	1	1	117548	1	29	1	2	2	4	2.205976	1	0.370000	3.300000	0.540146	0.890000	6.400000e-01	1.000000	1.000000	0.886137	0.890000	1	0.760000	1.000000
L2HGDH	79944	broad.mit.edu	37	14	50704423	50704423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:50704423G>A	ENST00000261699.4	-	10	1234	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L				Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase			10	all_epithelial(31;0.000599)|Breast(41;0.0102)				TAGCCAGCTCGGTCCTCTCAC	0.517000																								0							SO:0001583	missense			ENST00000261699.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.45	2.835940	0.50951	.	.	ENSG00000087299	ENST00000261699	D	0.92699	-3.09	4.54	-1.11	0.09840	.	.	.	.	.	D	0.93946	0.8062	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85113	0.0964	8	0.87932	D	0	.	4.3647	0.11218	0.4596:0.1691:0.3713:0.0	.	406	C9JVN9	.	L	406	ENSP00000261699:P406L	ENSP00000261699:P406L	P	-	2	0	L2HGDH	49774173	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-0.086000	0.11233	-0.302000	0.08869	-1.446000	0.01064	CCG		TCGA-IB-AAUU-01A-11D-A377-08	L2HGDH-002	KNOWN	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276871.1	0	0	1	13	105	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.996151e-01	13	104	0	23	2		0	0	0	0	23	2	-3.321531	1	1	116142	1	29	1	2	2	4	2.205976	1	0.370000	3.300000	0.540146	0.830000	4.700000e-01	1.000000	1.000000	0.821978	0.830000	0	0.630000	1.000000
MAP3K9	4293	broad.mit.edu	37	14	71209085	71209085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:71209085C>T	ENST00000554752.2	-	6	1549	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R211H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9			46					GAGGCTGATGCGGTTGCCATC	0.602000													GBM(114;411 1587 13539 28235 50070)											0							SO:0001583	missense			ENST00000554752.2	0	1	hg19		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.47	1.947067	0.34377	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	6.06	5.17	0.71159	Protein kinase-like domain (1);	0.211843	0.49305	D	0.000141	T	0.07413	0.0187	N	0.25245	0.725	0.50171	D	0.999854	B;B;B;B	0.20261	0.001;0.025;0.043;0.005	B;B;B;B	0.20577	0.005;0.009;0.03;0.013	T	0.28332	-1.0047	10	0.35671	T	0.21	.	7.1057	0.25362	0.1401:0.71:0.0:0.1499	.	254;517;517;211	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	H	517;517;211;517;254;245	ENSP00000451612:R517H;ENSP00000451038:R211H;ENSP00000370649:R517H;ENSP00000451921:R254H	ENSP00000005198:R517H	R	-	2	0	MAP3K9	70278838	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.617000	0.54181	1.577000	0.49804	-0.150000	0.13652	CGC		TCGA-IB-AAUU-01A-11D-A377-08	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	0	0	0	5	463	2	69	0	1.112823e-03	0	4	2	69	2		0	0	0	0	0	2	0	9.027197e-06	5	448	2	66	29		0	0	0	2	69	2	-2.178743	0	1	121412	8	42	1	2	2	4	2.205976	1	0.370000	3.300000	0.540146	0.080000	1.000000e-02	0.180000	0.080000	0.093949	0.080000	0	0.040000	0.130000
YLPM1	56252	broad.mit.edu	37	14	75276279	75276279	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:75276279G>A	ENST00000552421.1	+	6	2724	c.2600G>A	c.(2599-2601)cGa>cAa	p.R867Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R1573Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1378Q			P49750	YLPM1_HUMAN	YLP motif containing 1			62			KIRC - Kidney renal clear cell carcinoma(43;0.238)		GAACAGGAACGATGGGATGAA	0.478000																								0							SO:0001583	missense			ENST00000552421.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	24.1	4.492754	0.84962	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000008	T	0.66386	0.2784	L	0.27053	0.805	0.42961	D	0.994407	D;D	0.89917	0.997;1.0	D;D	0.81914	0.964;0.995	T	0.70139	-0.4954	9	0.72032	D	0.01	-5.0092	17.6519	0.88167	0.0:0.0:1.0:0.0	.	1378;1573	P49750-3;P49750-4	.;.	Q	867;1573;1378;1286	.	ENSP00000238571:R1378Q	R	+	2	0	YLPM1	74346032	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.826000	0.75298	2.588000	0.87417	0.591000	0.81541	CGA		TCGA-IB-AAUU-01A-11D-A377-08	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	1	0	1	27	85	0	20	1	9.997534e-01	19	27	0	20	2		0	0	0	0	0	2	1	1	26	85	0	20	2		0	0	0	0	20	2	-20.000000	1	1	0	0		1	2	2	4	2.205976	1	0.370000	3.300000	0.540146	0.990000	9.900000e-01	1.000000	1.000000	0.999938	0.990000	1	0.990000	1.000000
LRRK1	79705	broad.mit.edu	37	15	101586241	101586241	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:101586241C>T	ENST00000388948.3	+	21	3378	c.3019C>T	c.(3019-3021)Cgg>Tgg	p.R1007W	LRRK1_ENST00000284395.5_Missense_Mutation_p.R1004W|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1			72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		CCACGGTATGCGGCACCCCAC	0.562000																								0							SO:0001583	missense			ENST00000388948.3	0	1	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952657	0.92660	0.001224	0.0	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73152	-0.69;-0.72	5.58	5.58	0.84498	.	0.060599	0.64402	D	0.000003	T	0.72969	0.3527	L	0.55481	1.735	0.46185	D	0.998919	D	0.76494	0.999	P	0.50490	0.642	T	0.75634	-0.3250	10	0.66056	D	0.02	.	13.6371	0.62229	0.0:0.9197:0.0:0.0803	.	1007	Q38SD2	LRRK1_HUMAN	W	1007;1004	ENSP00000373600:R1007W;ENSP00000284395:R1004W	ENSP00000284395:R1004W	R	+	1	2	LRRK1	99403764	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.715000	0.54897	2.769000	0.95229	0.655000	0.94253	CGG		TCGA-IB-AAUU-01A-11D-A377-08	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	0	0	0	5	467	0	76	0	3.750867e-02	0	23	0	76	2		0	0	0	0	0	2	1	9.350053e-01	5	459	0	71	2		0	0	0	0	76	2	-1.878379	0	1	120976	11	45	1	2	2	4	2.228833	1	0.370000	3.300000	0.540146	0.080000	1.000000e-02	0.180000	0.080000	0.093135	0.080000	0	0.040000	0.130000
OCA2	4948	broad.mit.edu	37	15	28211955	28211955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:28211955G>A	ENST00000354638.3	-	15	1672	c.1517C>T	c.(1516-1518)gCc>gTc	p.A506V	OCA2_ENST00000382996.2_Missense_Mutation_p.A506V|OCA2_ENST00000353809.5_Missense_Mutation_p.A482V	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II			85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)			AGTGAATCCGGCAAAGTCCAG	0.507000									Oculocutaneous Albinism															0							SO:0001583	missense	Familial Cancer Database		ENST00000354638.3	0	1	hg19	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907629	0.72868	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	T;T;T	0.80480	-1.38;-1.38;-1.38	5.05	5.05	0.67936	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	N	0.16862	0.45	0.58432	D	0.999997	B;P	0.46621	0.196;0.881	B;P	0.51516	0.098;0.672	T	0.77451	-0.2583	10	0.38643	T	0.18	-19.0275	16.249	0.82472	0.0:0.0:1.0:0.0	.	482;506	Q04671-2;Q04671	.;P_HUMAN	V	506;482;506	ENSP00000346659:A506V;ENSP00000261276:A482V;ENSP00000372457:A506V	ENSP00000261276:A482V	A	-	2	0	OCA2	25885550	1.000000	0.71417	0.942000	0.38095	0.482000	0.33219	6.969000	0.76092	2.494000	0.84150	0.555000	0.69702	GCC		TCGA-IB-AAUU-01A-11D-A377-08	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	0	0	0	4	141	0	34	0	1.378930e-03	0	2	0	34	2		0	0	0	0	0	2	1	8.864814e-01	4	138	0	34	2		0	0	0	0	34	2	-6.256168	1	1	0	0		1	2	2	4	2.224059	1	0.370000	3.300000	0.540146	0.220000	7.000000e-02	0.480000	0.200000	0.250411	0.220000	0	0.130000	0.350000
HERC2	8924	broad.mit.edu	37	15	28517442	28517442	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:28517442G>A	ENST00000261609.7	-	9	1110	c.1002C>T	c.(1000-1002)agC>agT	p.S334S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			AAAGTGGGGCGCTGGTGCCCT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000261609.7	0	1	hg19	CCDS10021.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	0	0	10	358	0	46	0	1.018579e-01	0	18	0	46	2		0	0	0	0	0	2	1	9.965739e-01	10	349	0	44	2		0	0	0	0	46	2	-3.272530	1	1	121412	8	36	1	2	2	4	2.224059	1	0.370000	3.300000	0.540146	0.200000	9.000000e-02	0.350000	0.200000	0.219657	0.200000	0	0.140000	0.280000
CHRNA7	1139	broad.mit.edu	37	15	32460285	32460285	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:32460285G>A	ENST00000306901.3	+	10	1232	c.1135G>A	c.(1135-1137)Gcc>Acc	p.A379T	CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T|CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)			12		all_lung(180;6.35e-11)		Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCCGCCGCCCGCCAGCAACGG	0.716000													Esophageal Squamous(193;529 2900 40232 43193)											0							SO:0001583	missense			ENST00000306901.3	1	1	hg19	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	g	3.425	-0.117298	0.06838	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.19669	2.13;2.13;2.13	3.84	-0.555	0.11807	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.523290	0.01582	N	0.021155	T	0.08179	0.0204	N	0.03000	-0.44	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20505	-1.0273	10	0.12766	T	0.61	.	3.6481	0.08192	0.494:0.0:0.3237:0.1823	.	408;379	B4DFS0;P36544	.;ACHA7_HUMAN	T	289;408;379;198	ENSP00000407546:A408T;ENSP00000303727:A379T;ENSP00000405989:A198T	ENSP00000303727:A379T	A	+	1	0	CHRNA7	30247577	0.000000	0.05858	0.001000	0.08648	0.477000	0.33069	-0.094000	0.11094	-0.091000	0.12440	0.650000	0.86243	GCC		TCGA-IB-AAUU-01A-11D-A377-08	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2	0	0	0	55	225	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	54	194	0	44	2		0	0	0	0	41	2	-3.045821	1	1	120386	8	36	1	2	2	4	2.203689	1	0.370000	3.300000	0.540146	0.990000	9.900000e-01	1.000000	1.000000	0.999918	0.990000	1	0.990000	1.000000
DET1	55070	broad.mit.edu	37	15	89070834	89070834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:89070834G>A	ENST00000268148.8	-	3	1412	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	DET1_ENST00000564406.1_Missense_Mutation_p.R434C|DET1_ENST00000444300.1_Missense_Mutation_p.R434C	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	p.R434C(1)		23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)		GCTTACCGGCGCTGGATCTGC	0.443000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000268148.8	0	1	hg19	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014609	0.75161	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.7	5.7	0.88788	.	0.049043	0.85682	D	0.000000	T	0.78953	0.4365	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64506	0.926;0.926	T	0.80725	-0.1254	9	0.87932	D	0	.	18.8293	0.92132	0.0:0.0:1.0:0.0	.	423;434	Q7L5Y6;B3KNN6	DET1_HUMAN;.	C	434;423	.	ENSP00000268148:R423C	R	-	1	0	DET1	86871838	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.036000	0.76524	2.683000	0.91414	0.655000	0.94253	CGC		TCGA-IB-AAUU-01A-11D-A377-08	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	0	0	0	4	229	1	41	0	2.156863e-03	0	11	1	41	3		0	0	0	0	0	2	0	1.489449e-03	4	225	1	41	18		0	0	0	1	41	2	-4.053565	1	0	120828	5	35	1	2	2	4	2.228833	1	0.370000	3.300000	0.540146	0.140000	4.000000e-02	0.310000	0.120000	0.156907	0.140000	0	0.080000	0.220000
SLC12A3	6559	broad.mit.edu	37	16	56920974	56920974	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:56920974A>G	ENST00000563236.1	+	17	2172	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	SLC12A3_ENST00000262502.5_Missense_Mutation_p.D715G|SLC12A3_ENST00000438926.2_Missense_Mutation_p.D716G|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D715G			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3			50				Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ATTGCCGAGGACCTCCGCAGA	0.582000																								0							SO:0001583	missense			ENST00000563236.1	1	1	hg19	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675396	0.47781	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.66	5.66	0.87406	.	0.153400	0.56097	D	0.000024	T	0.65575	0.2704	M	0.68317	2.08	0.80722	D	1	B;B;B	0.27910	0.193;0.006;0.011	B;B;B	0.34346	0.18;0.017;0.034	T	0.65598	-0.6129	9	0.52906	T	0.07	.	15.9025	0.79392	1.0:0.0:0.0:0.0	.	715;716;716	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	G	715;716	.	ENSP00000262502:D716G	D	+	2	0	SLC12A3	55478475	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	6.121000	0.71602	2.155000	0.67459	0.450000	0.29827	GAC		TCGA-IB-AAUU-01A-11D-A377-08	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1	1	0	0	24	257	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	9.999997e-01	24	253	0	27	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	2	2	4	2.208062	1	0.370000	3.300000	0.540146	0.630000	4.200000e-01	0.900000	0.640000	0.651889	0.630000	0	0.520000	0.770000
HYDIN	54768	broad.mit.edu	37	16	70908762	70908762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:70908762C>T	ENST00000393567.2	-	63	10768	c.10618G>A	c.(10618-10620)Gcg>Acg	p.A3540T	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein			43		Ovarian(137;0.0654)			TAGATATACGCGGTGGTGGGC	0.507000																								0							SO:0001583	missense			ENST00000393567.2	1	1	hg19	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	2.768	-0.256259	0.05829	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00882	5.58	4.66	0.836	0.18891	.	0.563128	0.13263	U	0.401146	T	0.00440	0.0014	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.51028	-0.8757	10	0.17832	T	0.49	.	0.1104	0.00055	0.365:0.2089:0.1834:0.2427	.	3539	F8WD23	.	T	3540;3539	ENSP00000377197:A3540T	ENSP00000313052:A3539T	A	-	1	0	HYDIN	69466263	0.999000	0.42202	0.992000	0.48379	0.039000	0.13416	0.722000	0.25925	0.614000	0.30107	-0.463000	0.05309	GCG		TCGA-IB-AAUU-01A-11D-A377-08	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	1	0	0	30	90	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1	29	87	0	27	2		0	0	0	0	23	2	-19.998650	1	1	120804	5	34	1	2	2	4	2.208062	1	0.370000	3.300000	0.540146	0.990000	9.900000e-01	1.000000	1.000000	0.999983	0.990000	1	0.990000	1.000000
IRF8	3394	broad.mit.edu	37	16	85946826	85946826	+	Silent	SNP	G	G	A	rs146360039	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:85946826G>A	ENST00000268638.5	+	5	959	c.537G>A	c.(535-537)gcG>gcA	p.A179A	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8			24		Prostate(104;0.0771)			ACTGGTGGGCGCAGCAGCCCA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000268638.5	0	1	hg19	CCDS10956.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	0	0	0	6	400	0	49	0	5.519594e-01	0	113	0	49	2		0	0	0	0	0	2	1	9.638836e-01	6	395	0	48	2		0	0	0	0	49	2	-2.531501	1	1	121412	17	45	1	2	2	4	2.208062	1	0.370000	3.300000	0.540146	0.110000	3.000000e-02	0.230000	0.120000	0.126837	0.110000	0	0.070000	0.170000
COASY	80347	broad.mit.edu	37	17	40714771	40714771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:40714771G>A	ENST00000393818.2	+	1	587	c.131G>A	c.(130-132)gGc>gAc	p.G44D	COASY_ENST00000420359.1_Missense_Mutation_p.G44D|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000449624.1_Intron|COASY_ENST00000421097.2_Missense_Mutation_p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase			21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)			CTGCAGCCGGGCATGAGCCTG	0.662000																								0							SO:0001583	missense			ENST00000393818.2	0	1	hg19	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783426	0.70222	4.54E-4	0.0	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818;ENST00000426807	T;T	0.33438	1.41;1.41	5.84	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	L	0.32530	0.975	0.80722	D	1	P;B	0.41041	0.736;0.043	B;B	0.38500	0.275;0.024	T	0.03068	-1.1076	10	0.48119	T	0.1	-18.0729	12.532	0.56120	0.0803:0.0:0.9197:0.0	.	73;44	Q13057-2;Q13057	.;COASY_HUMAN	D	73;44;44;44	ENSP00000413338:G44D;ENSP00000377406:G44D	ENSP00000377406:G44D	G	+	2	0	COASY	37968297	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	6.902000	0.75699	1.483000	0.48342	0.561000	0.74099	GGC		TCGA-IB-AAUU-01A-11D-A377-08	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	0	0	0	6	507	0	69	0	4.133932e-01	0	107	0	69	2		0	0	0	0	0	2	1	9.631976e-01	6	498	0	69	2		0	0	0	0	69	2	-1.930375	0	1	121388	3	39	1	2	2	4	2.240639	1	0.370000	3.300000	0.540146	0.090000	2.000000e-02	0.180000	0.080000	0.100443	0.090000	0	0.050000	0.140000
DHX8	1659	broad.mit.edu	37	17	41570293	41570293	+	Missense_Mutation	SNP	C	C	T	rs146727331		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:41570293C>T	ENST00000262415.3	+	6	820	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	DHX8_ENST00000540306.1_Missense_Mutation_p.R250W	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8			42		Breast(137;0.00908)			GGATAGATGGCGGGATAAGCA	0.507000													NSCLC(56;1548 1661 49258 49987)											0							SO:0001583	missense			ENST00000262415.3	1	1	hg19	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901639	0.52227	0.0	1.16E-4	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.56611	0.45;0.45	5.33	0.831	0.18860	.	0.131203	0.50627	D	0.000103	T	0.35128	0.0921	N	0.08118	0	0.47183	D	0.999343	D;D	0.69078	0.997;0.995	P;P	0.51657	0.627;0.676	T	0.20672	-1.0268	10	0.59425	D	0.04	.	4.9162	0.13847	0.4807:0.3354:0.1111:0.0729	.	250;250	F5H658;Q14562	.;DHX8_HUMAN	W	250	ENSP00000437886:R250W;ENSP00000262415:R250W	ENSP00000262415:R250W	R	+	1	2	DHX8	38925819	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	3.269000	0.51592	0.205000	0.20568	-0.293000	0.09583	CGG		TCGA-IB-AAUU-01A-11D-A377-08	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1	1	0	1	117	339	0	109	1	9.958452e-01	5	21	0	109	2		0	0	0	0	0	2	1	1	114	333	0	107	2		0	0	0	0	109	2	-20.000000	1	1	121412	7	42	1	2	2	4	2.240639	1	0.370000	3.300000	0.540146	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
TANC2	26115	broad.mit.edu	37	17	61483573	61483573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:61483573G>A	ENST00000424789.2	+	19	3306	c.3302G>A	c.(3301-3303)cGc>cAc	p.R1101H	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1101H|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2			44					AAGCAGGGCCGCACTCCCCTG	0.512000											OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000424789.2	0	1	hg19	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398436	0.96030	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.66280	-0.2;-0.2	5.48	5.48	0.80851	Ankyrin repeat-containing domain (4);	0.055575	0.64402	D	0.000001	T	0.76357	0.3976	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.77368	-0.2614	10	0.66056	D	0.02	.	19.3674	0.94469	0.0:0.0:1.0:0.0	.	1101;1101	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	H	1101	ENSP00000374171:R1101H;ENSP00000387593:R1101H	ENSP00000374171:R1101H	R	+	2	0	TANC2	58837305	1.000000	0.71417	0.966000	0.40874	0.973000	0.67179	9.810000	0.99221	2.587000	0.87381	0.462000	0.41574	CGC		TCGA-IB-AAUU-01A-11D-A377-08	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1	0	0	0	5	475	0	104	0	1.804077e-04	0	2	0	104	2		0	0	0	0	0	2	1	9.368114e-01	5	472	0	102	2		0	0	0	0	104	2	-2.083755	0	1	0	0		1	1	2	3	1.969332	1	0.370000	3.300000	0.468354	0.070000	1.000000e-02	0.150000	0.060000	0.079379	0.070000	0	0.040000	0.110000
DNAH2	146754	broad.mit.edu	37	17	7727588	7727588	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:7727588C>T	ENST00000572933.1	+	76	13088	c.11628C>T	c.(11626-11628)atC>atT	p.I3876I	DNAH2_ENST00000389173.2_Silent_p.I3876I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2			189		all_cancers(10;4.66e-07)|Prostate(122;0.081)			AGGCCCCCATCGCTGCTCGGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000572933.1	1	1	hg19	CCDS32551.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	1	23	114	0	44	1	6.289709e-01	8	4	0	44	2		0	0	0	0	0	2	1	9.999996e-01	23	111	0	42	2		0	0	0	0	44	2	-20.000000	1	1	121196	3	38	1	0	1	1	1.363146	1	0.370000	3.300000	0.226994	0.720000	4.800000e-01	0.950000	0.720000	0.729876	0.720000	0	0.590000	0.860000
ZNF700	90592	broad.mit.edu	37	19	12060731	12060731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:12060731C>T	ENST00000254321.5	+	4	2035	c.1892C>T	c.(1891-1893)tCt>tTt	p.S631F	ZNF700_ENST00000482090.1_Missense_Mutation_p.S613F|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700		ZNF700/MAST1_ENST00000251472(2)	33					GCCTTCAGATCTGCCTCAAAC	0.438000																								0							SO:0001583	missense			ENST00000254321.5	1	0	hg19	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	0.399	-0.919390	0.02396	.	.	ENSG00000196757	ENST00000254321	T	0.03580	3.88	0.563	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09024	0.0223	M	0.62723	1.935	0.09310	N	1	D	0.67145	0.996	D	0.64877	0.93	T	0.24512	-1.0158	9	0.10636	T	0.68	.	7.1331	0.25512	0.0:0.7162:0.2837:0.0	.	631	Q9H0M5	ZN700_HUMAN	F	631	ENSP00000254321:S631F	ENSP00000254321:S631F	S	+	2	0	ZNF700	11921731	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.497000	0.02289	-0.437000	0.07243	0.313000	0.20887	TCT		TCGA-IB-AAUU-01A-11D-A377-08	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	1	0	1	74	344	0	148	1	9.956576e-01	13	28	0	148	2		0	0	0	0	0	2	1	1	71	340	0	146	2		0	0	0	0	148	2	-3.201776	1	1	0	0		1	1	3	4	1.989907	1	0.370000	3.300000	0.486008	0.990000	9.500000e-01	1.000000	1.000000	0.997413	0.990000	1	0.990000	1.000000
HMG20B	10362	broad.mit.edu	37	19	3574395	3574395	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:3574395C>T	ENST00000333651.6	+	4	237	c.162C>T	c.(160-162)cgC>cgT	p.R54R	MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B			1		Hepatocellular(1079;0.137)			TGAAGAAACGCGGCTGGCCCA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000333651.6	0	1	hg19	CCDS45919.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159407	0.38119	.	.	ENSG00000064961	ENST00000262949	.	.	.	4.03	-8.05	0.01106	.	0.000000	0.64402	U	0.000001	T	0.49745	0.1575	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	T	0.62067	-0.6932	6	0.72032	D	0.01	-7.5678	2.2814	0.04115	0.4628:0.0954:0.2597:0.182	.	.	.	.	W	59	.	ENSP00000262949:R59W	R	+	1	2	HMG20B	3525395	0.000000	0.05858	0.325000	0.25375	0.925000	0.55904	-2.871000	0.00720	-3.088000	0.00248	0.491000	0.48974	CGG		TCGA-IB-AAUU-01A-11D-A377-08	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	1	0	0	11	33	0	12	1	9.999996e-01	34	90	0	12	2		0	0	0	0	0	2	1	9.987482e-01	10	32	0	12	2		0	0	0	0	12	2	-19.998840	1	1	0	0		1	0	3	3	1.729192	1	0.370000	3.300000	0.441316	0.990000	8.900000e-01	1.000000	1.000000	0.993476	0.990000	1	0.990000	1.000000
PSG6	5675	broad.mit.edu	37	19	43420517	43420517	+	Missense_Mutation	SNP	T	T	C	rs140507212		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:43420517T>C	ENST00000292125.2	-	2	231	c.187A>G	c.(187-189)Act>Gct	p.T63A	PSG6_ENST00000187910.2_Missense_Mutation_p.T63A|PSG6_ENST00000601833.1_5'UTR|PSG6_ENST00000402603.4_Missense_Mutation_p.T63A	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6			44		Prostate(69;0.00899)			ATGTAGCCAGTAAGATTCTGG	0.463000																								0							SO:0001583	missense			ENST00000292125.2	0	1	hg19	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.914902	0.00503	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.01464	4.86;4.86;4.86	1.58	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00784	0.0026	N	0.11651	0.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.002;0.001;0.006	T	0.46020	-0.9221	9	0.05959	T	0.93	.	0.9301	0.01333	0.2963:0.2272:0.3254:0.1511	.	63;63;63	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	A	63	ENSP00000187910:T63A;ENSP00000385736:T63A;ENSP00000292125:T63A	ENSP00000187910:T63A	T	-	1	0	PSG6	48112357	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.985000	0.00163	-2.639000	0.00430	-1.366000	0.01203	ACT		TCGA-IB-AAUU-01A-11D-A377-08	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	0	0	0	7	1311	0	353		0	0	0	0	353	2		0	0	0	0	0	2	1	9.789671e-01	6	1283	0	348	2		0	0	0	0	353	2	-4.032797	1	0	121316	16	48	1	1	3	4	2.057851	1	0.370000	3.300000	0.511097	0.030000	0	1.000000	0.040000	0.197100	0.030000	0	0.010000	1.000000
ERCC2	2068	broad.mit.edu	37	19	45867502	45867502	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:45867502G>A	ENST00000391945.4	-	9	883	c.806C>T	c.(805-807)aCg>aTg	p.T269M	ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.T191M|ERCC2_ENST00000391940.4_Missense_Mutation_p.T245M|ERCC2_ENST00000485403.2_Missense_Mutation_p.T245M	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2			9		Ovarian(192;0.0728)|all_neural(266;0.112)			CCTGAGCACCGTCTTCTGCAG	0.692000			Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)		E	0							SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000391945.4	1	1	hg19	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485655	0.63962	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.63913	-0.07;-0.07;-0.07	4.72	4.72	0.59763	Helicase-like, DEXD box c2 type (1);Domain of unknown function DUF1227 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.359147	0.31071	N	0.008304	T	0.71091	0.3299	M	0.72118	2.19	0.80722	D	1	P;P;B	0.47841	0.468;0.901;0.04	B;P;B	0.51487	0.376;0.671;0.264	T	0.74748	-0.3560	10	0.59425	D	0.04	-24.3907	15.5543	0.76180	0.0:0.0:1.0:0.0	.	191;245;269	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	M	219;245;269;191;245	ENSP00000375809:T269M;ENSP00000375808:T191M;ENSP00000375804:T245M	ENSP00000375804:T245M	T	-	2	0	ERCC2	50559342	1.000000	0.71417	0.997000	0.53966	0.662000	0.39071	4.390000	0.59646	2.601000	0.87937	0.561000	0.74099	ACG		TCGA-IB-AAUU-01A-11D-A377-08	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	1	0	0	45	275	0	30	1	9.791805e-01	7	33	0	30	2		0	0	0	0	0	2	1	1	45	270	0	29	2		0	0	0	0	30	2	-20.000000	1	1	0	0		1	4	6	10	2.664688	1	0.370000	3.300000	0.618459	0.990000	9.600000e-01	1.000000	1.000000	0.997505	0.990000	1	0.990000	1.000000
KLK4	9622	broad.mit.edu	37	19	51411880	51411880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:51411880C>T	ENST00000324041.1	-	3	429	c.430G>A	c.(430-432)Gcg>Acg	p.A144T	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Missense_Mutation_p.A95T	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4			19		all_neural(266;0.026)			GAGTTCCCCGCGGTAGGGCAC	0.602000																								0							SO:0001583	missense			ENST00000324041.1	0	1	hg19	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	c	6.881	0.532035	0.13127	.	.	ENSG00000167749	ENST00000324041;ENST00000431178	D;D	0.89415	-2.51;-2.51	3.99	-7.97	0.01139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.234540	0.06113	N	0.667494	T	0.76307	0.3969	N	0.25201	0.72	0.09310	N	1	B;B	0.33964	0.434;0.248	B;B	0.27076	0.076;0.012	T	0.68296	-0.5446	10	0.41790	T	0.15	.	8.5105	0.33215	0.171:0.1988:0.5598:0.0703	.	95;144	Q96JD7;Q9Y5K2	.;KLK4_HUMAN	T	144;95	ENSP00000326159:A144T;ENSP00000399448:A95T	ENSP00000326159:A144T	A	-	1	0	KLK4	56103692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.743000	0.00797	-2.474000	0.00527	-1.157000	0.01802	GCG		TCGA-IB-AAUU-01A-11D-A377-08	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	0	0	0	5	223	1	63	0	7.905138e-04	0	2	1	63	2		0	0	0	0	0	2	0	4.049618e-02	5	219	1	63	13		0	0	0	1	63	2	-3.084110	1	1	0	0		1	0	2	2	1.683231	1	0.370000	3.300000	0.370000	0.120000	4.000000e-02	0.260000	0.120000	0.139946	0.120000	0	0.070000	0.190000
ADORA3	140	broad.mit.edu	37	1	112042946	112042946	+	Missense_Mutation	SNP	C	C	T	rs143962803	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:112042946C>T	ENST00000241356.4	-	2	988	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	p.A195T(1)		12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	AGATAGATGGCGCACATGACA	0.433000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000241356.4	1	1	hg19	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	9.584	1.124357	0.20959	0.005447	1.16E-4	ENSG00000121933	ENST00000241356	T	0.37058	1.22	5.01	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10852	0.0265	L	0.39467	1.215	0.23174	N	0.998173	P	0.41784	0.762	B	0.36534	0.227	T	0.11717	-1.0576	9	0.27785	T	0.31	.	8.8535	0.35214	0.0:0.6997:0.0:0.3003	.	195	P33765	AA3R_HUMAN	T	195	ENSP00000241356:A195T	ENSP00000241356:A195T	A	-	1	0	ADORA3	111844469	0.077000	0.21312	0.173000	0.22940	0.021000	0.10359	1.197000	0.32211	0.227000	0.20999	0.655000	0.94253	GCC		TCGA-IB-AAUU-01A-11D-A377-08	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	1	0	1	139	321	0	107	0	6.737607e-01	0	7	0	107	2		0	0	0	0	0	2	1	1	136	312	0	105	2		0	0	0	0	107	2	-3.017764	1	1	121412	56	51	1	1	2	3	1.940352	1	0.370000	3.300000	0.468354	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SPTA1	6708	broad.mit.edu	37	1	158585164	158585164	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:158585164C>T	ENST00000368147.4	-	48	6810	c.6630G>A	c.(6628-6630)aaG>aaA	p.K2210K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				TTAGTTGACGCTTCATCGCCT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000368147.4	0	1	hg19	CCDS41423.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	0	0	6	704	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	9.625253e-01	6	688	0	116	2		0	0	0	0	119	2	-2.960638	1	1	0	0		1	2	2	4	2.208983	1	0.370000	3.300000	0.540146	0.060000	0	0.140000	0.080000	0.071525	0.060000	0	0.030000	0.100000
DCAF6	55827	broad.mit.edu	37	1	167960489	167960489	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:167960489C>T	ENST00000312263.6	+	6	804	c.600C>T	c.(598-600)tgC>tgT	p.C200C	DCAF6_ENST00000367843.3_Silent_p.C200C|DCAF6_ENST00000432587.2_Silent_p.C169C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367840.3_Silent_p.C200C	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6			36					TTGCTATTTGCCCACCAATAC	0.393000																								0							SO:0001819	synonymous_variant			ENST00000312263.6	0	1	hg19	CCDS30933.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	0	0	0	5	522	1	114	0	1.034541e-02	0	64	1	114	4		0	0	0	0	0	2	0	1.133879e-02	5	514	1	114	16		0	0	0	1	114	2	-2.291945	0	1	0	0		1	2	2	4	2.208983	1	0.370000	3.300000	0.540146	0.070000	1.000000e-02	0.160000	0.080000	0.083120	0.070000	0	0.030000	0.120000
HEATR1	55127	broad.mit.edu	37	1	236762848	236762848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:236762848G>A	ENST00000366582.3	-	4	550	c.436C>T	c.(436-438)Cga>Tga	p.R146*	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R146*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1			87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		TGTATGACTCGCACAAATATT	0.368000																								0							SO:0001587	stop_gained			ENST00000366582.3	0	1	hg19	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	38	7.045839	0.98025	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6914	0.77457	0.0:0.0:0.855:0.145	.	.	.	.	X	146	.	ENSP00000355540:R146X	R	-	1	2	HEATR1	234829471	1.000000	0.71417	0.945000	0.38365	0.991000	0.79684	1.649000	0.37281	2.812000	0.96745	0.561000	0.74099	CGA		TCGA-IB-AAUU-01A-11D-A377-08	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	0	0	0	6	463	0	90	0	1.024651e-02	0	10	0	90	2		0	0	0	0	0	2	1	9.640146e-01	6	458	0	87	2		0	0	0	0	90	2	-2.380664	0	1	0	0		1	2	2	4	2.206397	1	0.370000	3.300000	0.540146	0.100000	2.000000e-02	0.200000	0.090000	0.109884	0.100000	0	0.060000	0.150000
ZNF362	149076	broad.mit.edu	37	1	33745956	33745956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:33745956G>A	ENST00000539719.1	+	5	751	c.581G>A	c.(580-582)cGc>cAc	p.R194H	ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362			10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)			GAACGCGGCCGCAAAAAGATC	0.647000													Pancreas(162;1431 2676 35353 38425)											0							SO:0001583	missense			ENST00000539719.1	0	1	hg19	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	36	5.713649	0.96830	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.09163	3.01;3.01	5.99	5.99	0.97316	.	0.468737	0.18085	N	0.152172	T	0.37404	0.1002	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.02512	-1.1148	10	0.87932	D	0	-36.2752	18.0311	0.89285	0.0:0.0:1.0:0.0	.	194	Q5T0B9	ZN362_HUMAN	H	181;194;194	ENSP00000446335:R194H;ENSP00000362527:R194H	ENSP00000362527:R194H	R	+	2	0	ZNF362	33518543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.314000	0.96306	2.857000	0.98124	0.650000	0.86243	CGC		TCGA-IB-AAUU-01A-11D-A377-08	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	0	0	0	5	182	0	21	0	2.145633e-01	0	27	0	21	2		0	0	0	0	0	2	1	9.357119e-01	5	179	0	19	2		0	0	0	0	21	2	-2.743451	1	1	0	0		1	1	3	4	1.977741	1	0.370000	3.300000	0.479726	0.220000	7.000000e-02	1.000000	0.180000	0.395069	0.220000	0	0.130000	1.000000
GLMN	11146	broad.mit.edu	37	1	92755861	92755861	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:92755861T>A	ENST00000370360.3	-	5	369	c.288A>T	c.(286-288)ttA>ttT	p.L96F	GLMN_ENST00000534881.1_Missense_Mutation_p.L96F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein			17		all_lung(203;0.00827)|Lung NSC(277;0.0295)			TTGGATTGCATAACTATAAAA	0.308000									Multiple Glomus Tumors (of the Skin), Familial															0							SO:0001583	missense	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	ENST00000370360.3	1	1	hg19	CCDS738.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543108	0.65198	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.50548	0.74;0.74	5.65	1.87	0.25490	.	0.418315	0.26231	N	0.025566	T	0.40067	0.1102	L	0.56769	1.78	0.47737	D	0.9995	D;D	0.59767	0.986;0.982	P;P	0.62813	0.907;0.875	T	0.50338	-0.8840	10	0.66056	D	0.02	-2.3571	0.2648	0.00223	0.2109:0.2274:0.2068:0.3549	.	96;96	B4DJ85;Q92990	.;GLMN_HUMAN	F	96	ENSP00000359385:L96F;ENSP00000440156:L96F	ENSP00000359385:L96F	L	-	3	2	GLMN	92528449	0.519000	0.26242	1.000000	0.80357	0.995000	0.86356	-0.704000	0.05058	1.033000	0.39918	0.533000	0.62120	TTA		TCGA-IB-AAUU-01A-11D-A377-08	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	0	0	1	50	256	0	98	0	2.786534e-02	0	2	0	98	2		0	0	0	0	0	2	1	1	50	252	0	99	2		0	0	0	0	98	2	-20.000000	1	1	121394	1	28	1	1	3	4	1.977741	1	0.370000	3.300000	0.479726	0.990000	8.300000e-01	1.000000	1.000000	0.982261	0.990000	1	0.960000	1.000000
PREX1	57580	broad.mit.edu	37	20	47262580	47262580	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr20:47262580G>A	ENST00000371941.3	-	26	3343	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	PREX1_ENST00000396220.1_Silent_p.I1107I	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1			110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		TGGGCTCTGTGATGGTGGACA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000371941.3	1	1	hg19	CCDS13410.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	1	0	1	73	182	0	36	1	9.996427e-01	2	31	0	36	2		0	0	0	0	0	2	1	1	71	181	0	34	2		0	0	0	0	36	2	-20.000000	1	1	0	0		1	2	2	4	2.168958	1	0.370000	3.300000	0.532572	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
BACH1	571	broad.mit.edu	37	21	30699086	30699086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr21:30699086C>T	ENST00000399921.1	+	3	1184	c.941C>T	c.(940-942)tCc>tTc	p.S314F	BACH1_ENST00000286800.3_Missense_Mutation_p.S314F	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1			27					CACAATTCTTCCATAGACCCT	0.388000																								0							SO:0001583	missense			ENST00000399921.1	1	1	hg19	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077636	0.36662	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.72167	-0.63;-0.63	5.38	5.38	0.77491	.	0.248068	0.36034	N	0.002837	T	0.54695	0.1874	N	0.14661	0.345	0.09310	N	1	B	0.34372	0.451	B	0.26517	0.07	T	0.58233	-0.7672	10	0.72032	D	0.01	-16.0467	18.0715	0.89408	0.0:1.0:0.0:0.0	.	314	O14867	BACH1_HUMAN	F	314	ENSP00000286800:S314F;ENSP00000382805:S314F	ENSP00000286800:S314F	S	+	2	0	BACH1	29620957	0.098000	0.21812	0.093000	0.20910	0.624000	0.37722	4.125000	0.57931	2.813000	0.96785	0.655000	0.94253	TCC		TCGA-IB-AAUU-01A-11D-A377-08	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	1	0	1	103	499	0	212	1	9.872332e-01	12	23	0	212	2		0	0	0	0	0	2	1	1	102	493	0	207	2		0	0	0	0	212	2	-20.000000	1	1	0	0		1	0	1	1	1.607975	0	0.370000	3.300000	0.368832	0.910000	7.600000e-01	1.000000	1.000000	0.917420	0.910000	1	0.830000	1.000000
DIP2A	23181	broad.mit.edu	37	21	47976980	47976980	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr21:47976980C>T	ENST00000417564.2	+	30	3648	c.3627C>T	c.(3625-3627)tgC>tgT	p.C1209C	DIP2A_ENST00000400274.1_Silent_p.C1205C|DIP2A_ENST00000318711.7_Silent_p.C1210C			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)			43	Breast(49;0.0933)				GGTGTCTGTGCAGGTGAGTGC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000417564.2	0	1	hg19	CCDS46655.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	1	0	1	9	74	0	10	1	5.240832e-01	2	13	0	10	2		0	0	0	0	0	2	1	9.941661e-01	9	71	0	10	2		0	0	0	0	10	2	-15.453780	1	1	0	0		1	1	2	3	1.942018	0	0.370000	3.300000	0.468354	0.710000	3.600000e-01	1.000000	1.000000	0.726181	0.710000	0	0.510000	0.950000
ACR	49	broad.mit.edu	37	22	51182600	51182600	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr22:51182600C>T	ENST00000216139.5	+	4	717	c.677C>T	c.(676-678)gCg>gTg	p.A226V	ACR_ENST00000527761.1_3'UTR|AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin			7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			AATGTGTGCGCGGGGTATCCT	0.577000																								0							SO:0001583	missense			ENST00000216139.5	0	1	hg19	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	N	13.55	2.272141	0.40194	.	.	ENSG00000100312	ENST00000216139	D	0.91124	-2.79	4.48	3.44	0.39384	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000561	D	0.93455	0.7912	M	0.75884	2.315	0.32305	N	0.564555	D	0.89917	1.0	D	0.91635	0.999	D	0.92392	0.5922	10	0.66056	D	0.02	-19.6881	7.0808	0.25229	0.0:0.7985:0.0:0.2014	.	226	P10323	ACRO_HUMAN	V	226	ENSP00000216139:A226V	ENSP00000216139:A226V	A	+	2	0	ACR	49529466	0.988000	0.35896	0.865000	0.33974	0.031000	0.12232	3.250000	0.51445	2.335000	0.79485	0.450000	0.29827	GCG		TCGA-IB-AAUU-01A-11D-A377-08	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	0	0	0	8	386	0	78	0	5.724754e-04	0	2	0	78	2		0	0	0	0	0	2	1	9.883788e-01	7	377	0	84	2		0	0	0	0	78	2	-3.042878	1	1	121412	13	43	1	0	2	2	1.681803	1	0.370000	3.300000	0.370000	0.110000	4.000000e-02	0.210000	0.110000	0.122303	0.110000	0	0.070000	0.160000
SCN2A	6326	broad.mit.edu	37	2	166201198	166201198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:166201198G>A	ENST00000375437.2	+	16	2986	c.2696G>A	c.(2695-2697)gGc>gAc	p.G899D	SCN2A_ENST00000357398.3_Missense_Mutation_p.G899D|SCN2A_ENST00000375427.2_Missense_Mutation_p.G899D|SCN2A_ENST00000283256.6_Missense_Mutation_p.G899D	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit			118				Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGTGGTCGGCATGCAGCTC	0.443000																								0							SO:0001583	missense			ENST00000375437.2	0	1	hg19	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064264	0.93898	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99444	0.9803	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98030	1.0376	10	0.87932	D	0	.	19.9329	0.97127	0.0:0.0:1.0:0.0	.	899;899	Q99250-2;Q99250	.;SCN2A_HUMAN	D	899	ENSP00000364586:G899D;ENSP00000349973:G899D;ENSP00000283256:G899D;ENSP00000364576:G899D	ENSP00000283256:G899D	G	+	2	0	SCN2A	165909444	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.735000	0.98825	2.714000	0.92807	0.650000	0.86243	GGC		TCGA-IB-AAUU-01A-11D-A377-08	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	0	0	0	7	784	0	170		0	0	0	0	170	2		0	0	0	0	0	2	1	9.785993e-01	7	764	0	169	2		0	0	0	0	170	2	-1.741427	0	1	0	0		1	2	2	4	2.162446	1	0.370000	3.300000	0.531285	0.060000	1.000000e-02	1.000000	0.080000	0.124319	0.060000	0	0.030000	0.110000
TTN	7273	broad.mit.edu	37	2	179407109	179407109	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:179407109C>T	ENST00000591111.1	-	299	92675	c.92451G>A	c.(92449-92451)acG>acA	p.T30817T	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.T29890T|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.T23393T|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.T32458T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.T23585T|TTN_ENST00000359218.5_Silent_p.T23518T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TAAACTTAAACGTGGACCTAG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-AAUU-01A-11D-A377-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	51	134	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	1	50	132	0	36	2		0	0	0	0	36	2	-20.000000	1	1	0	0		1	2	2	4	2.162446	1	0.370000	3.300000	0.531285	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
HECW2	57520	broad.mit.edu	37	2	197187274	197187274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:197187274C>T	ENST00000260983.3	-	7	994	c.812G>A	c.(811-813)cGt>cAt	p.R271H	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					GATGATGGGACGGCTCTTGGC	0.423000																								0							SO:0001583	missense			ENST00000260983.3	1	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137069	0.94517	.	.	ENSG00000138411	ENST00000260983	T	0.46451	0.87	5.49	4.6	0.57074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.191653	0.47455	D	0.000223	T	0.44973	0.1319	M	0.75447	2.3	0.58432	D	0.999998	B	0.29627	0.252	B	0.26614	0.071	T	0.51741	-0.8667	10	0.87932	D	0	.	14.9482	0.71050	0.0:0.9304:0.0:0.0696	.	271	Q9P2P5	HECW2_HUMAN	H	271	ENSP00000260983:R271H	ENSP00000260983:R271H	R	-	2	0	HECW2	196895519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.912000	0.69948	2.878000	0.98634	0.650000	0.86243	CGT		TCGA-IB-AAUU-01A-11D-A377-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1	97	711	0	140	0	4.057401e-02	0	3	0	140	2		0	0	0	0	0	2	1	1	94	706	0	138	2		0	0	0	0	140	2	-20.000000	1	1	0	0		1	2	2	4	2.117468	1	0.370000	3.300000	0.520730	0.860000	7.000000e-01	1.000000	1.000000	0.873874	0.860000	1	0.770000	1.000000
HK2	3099	broad.mit.edu	37	2	75118049	75118049	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:75118049G>A	ENST00000290573.2	+	18	3335	c.2735G>A	c.(2734-2736)cGt>cAt	p.R912H	HK2_ENST00000409174.1_Missense_Mutation_p.R884H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	p.R912L(1)		43					TGCCGCATCCGTGAGGCTGGA	0.542000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000290573.2	0	1	hg19	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882526	0.72294	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97553	-4.43;-4.43	4.99	4.99	0.66335	.	0.056749	0.64402	D	0.000001	D	0.93926	0.8056	L	0.41079	1.255	0.80722	D	1	D	0.61080	0.989	B	0.39027	0.288	D	0.93726	0.7037	10	0.40728	T	0.16	-11.9165	15.8192	0.78626	0.0:0.0:1.0:0.0	.	912	P52789	HXK2_HUMAN	H	912;912;884	ENSP00000290573:R912H;ENSP00000387140:R884H	ENSP00000290573:R912H	R	+	2	0	HK2	74971557	1.000000	0.71417	0.961000	0.40146	0.996000	0.88848	4.459000	0.60102	2.609000	0.88269	0.561000	0.74099	CGT		TCGA-IB-AAUU-01A-11D-A377-08	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	0	0	0	5	447	0	125	0	7.343498e-01	0	225	0	125	2		0	0	0	0	0	2	1	9.341313e-01	5	438	0	120	2		0	0	0	0	125	2	-3.139917	1	1	121412	1	28	1	2	2	4	2.171339	1	0.370000	3.300000	0.532572	0.080000	1.000000e-02	1.000000	0.080000	0.138256	0.080000	0	0.050000	0.150000
EPHB1	2047	broad.mit.edu	37	3	134884864	134884864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:134884864C>T	ENST00000398015.3	+	8	2010	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V	EPHB1_ENST00000493838.1_Missense_Mutation_p.A108V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1			130					GGCTCGGCAGCGGCCGGGGTC	0.567000																								0							SO:0001583	missense			ENST00000398015.3	0	1	hg19	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129979	0.56721	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.10477	2.87;2.87	6.07	6.07	0.98685	.	0.056918	0.64402	D	0.000002	T	0.09598	0.0236	L	0.31065	0.9	0.80722	D	1	B	0.14805	0.011	B	0.11329	0.006	T	0.14117	-1.0484	10	0.02654	T	1	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	547	P54762	EPHB1_HUMAN	V	547;108	ENSP00000381097:A547V;ENSP00000419574:A108V	ENSP00000381097:A547V	A	+	2	0	EPHB1	136367554	1.000000	0.71417	0.879000	0.34478	0.743000	0.42351	7.794000	0.85869	2.884000	0.98904	0.655000	0.94253	GCG		TCGA-IB-AAUU-01A-11D-A377-08	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	0	0	0	10	450	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	9.960064e-01	10	427	0	64	2		0	0	0	0	65	2	-2.612578	1	1	0	0		1	1	2	3	1.906089	1	0.370000	3.300000	0.468354	0.140000	6.000000e-02	0.250000	0.150000	0.152126	0.140000	0	0.100000	0.200000
CLSTN2	64084	broad.mit.edu	37	3	140178467	140178467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:140178467G>A	ENST00000458420.3	+	7	1268	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	RP11-68L1.2_ENST00000503357.1_RNA|RP11-68L1.1_ENST00000483759.2_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2			87					CAAGTTTGACGGCAGGCAGGG	0.572000										HNSCC(16;0.037)			GBM(45;858 913 3709 36904 37282)											0							SO:0001583	missense			ENST00000458420.3	1	1	hg19	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305899	0.95629	.	.	ENSG00000158258	ENST00000458420	T	0.02863	4.13	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00174	-1.1956	10	0.62326	D	0.03	-35.2726	16.6974	0.85339	0.0:0.0:1.0:0.0	.	360	Q9H4D0	CSTN2_HUMAN	S	360	ENSP00000402460:G360S	ENSP00000402460:G360S	G	+	1	0	CLSTN2	141661157	1.000000	0.71417	0.959000	0.39883	0.923000	0.55619	9.869000	0.99810	2.552000	0.86080	0.655000	0.94253	GGC		TCGA-IB-AAUU-01A-11D-A377-08	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	1	0	1	38	162	0	30	0	9.883776e-02	0	3	0	30	2		0	0	0	0	0	2	1	9.936295e-01	38	160	1	27	21		0	0	0	0	30	2	-3.356241	1	1	121412	7	40	1	1	2	3	1.906089	1	0.370000	3.300000	0.468354	0.990000	8.900000e-01	1.000000	1.000000	0.993423	0.990000	1	0.990000	1.000000
GRK7	131890	broad.mit.edu	37	3	141535562	141535562	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:141535562G>T	ENST00000264952.2	+	4	1469	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7			26					ACAGAGAAAAGTCTGATGATC	0.413000																								0							SO:0001583	missense			ENST00000264952.2	1	1	hg19	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281990	0.23392	.	.	ENSG00000114124	ENST00000264952	T	0.24350	1.86	5.4	-0.397	0.12423	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.206992	0.43260	D	0.000593	T	0.07458	0.0188	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17745	-1.0359	10	0.51188	T	0.08	-3.3201	0.3395	0.00331	0.2689:0.2271:0.2739:0.2301	.	444	Q8WTQ7	GRK7_HUMAN	N	444	ENSP00000264952:K444N	ENSP00000264952:K444N	K	+	3	2	GRK7	143018252	0.000000	0.05858	0.992000	0.48379	0.976000	0.68499	-0.314000	0.08092	-0.010000	0.14271	0.467000	0.42956	AAG		TCGA-IB-AAUU-01A-11D-A377-08	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	1	0	1	42	287	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	41	286	0	97	2		0	0	0	0	97	2	-20.000000	1	1	120062	2	35	1	1	2	3	1.906089	1	0.370000	3.300000	0.468354	0.810000	6.000000e-01	1.000000	1.000000	0.824383	0.810000	0	0.700000	0.940000
P2RY12	64805	broad.mit.edu	37	3	151055628	151055628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:151055628G>A	ENST00000302632.3	-	3	1305	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12			17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TCTTCATTTGGGTCACCACCA	0.368000																								0							SO:0001583	missense			ENST00000302632.3	0	1	hg19	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519990	0.27211	.	.	ENSG00000169313	ENST00000302632;ENST00000455408	T	0.59906	0.23	5.48	4.6	0.57074	.	0.944449	0.08953	N	0.869875	T	0.31734	0.0806	N	0.08118	0	0.09310	N	1	B	0.31026	0.304	B	0.23419	0.046	T	0.18808	-1.0325	10	0.15499	T	0.54	-2.2908	5.6313	0.17512	0.1514:0.0:0.6808:0.1678	.	336	Q9H244	P2Y12_HUMAN	S	336;239	ENSP00000307259:P336S	ENSP00000307259:P336S	P	-	1	0	P2RY12	152538318	0.161000	0.22892	0.037000	0.18230	0.021000	0.10359	0.759000	0.26461	1.435000	0.47434	-0.169000	0.13324	CCA		TCGA-IB-AAUU-01A-11D-A377-08	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1	0	0	0	7	602	0	151	0	5.695090e-04	0	3	0	151	2		0	0	0	0	0	2	1	9.798811e-01	7	595	0	150	2		0	0	0	0	151	2	-2.364652	0	1	0	0		1	1	2	3	1.906089	1	0.370000	3.300000	0.468354	0.070000	2.000000e-02	0.150000	0.070000	0.083806	0.070000	0	0.040000	0.110000
GPR149	344758	broad.mit.edu	37	3	154055947	154055947	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:154055947C>T	ENST00000389740.2	-	4	1836	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149			47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		TTATTTTTTGCCCTTCTGCGC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000389740.2	0	1	hg19	CCDS43162.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	0	0	0	6	799	0	182		0	0	0	0	182	2		0	0	0	0	0	2	1	9.633826e-01	6	788	0	176	2		0	0	0	0	182	2	-1.673033	0	1	0	0		1	1	2	3	1.906089	1	0.370000	3.300000	0.468354	0.040000	0	0.100000	0.060000	0.054652	0.040000	0	0.020000	0.080000
PLCL2	23228	broad.mit.edu	37	3	17052241	17052241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:17052241G>A	ENST00000418129.2	+	2	1490	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	PLCL2_ENST00000432376.1_Missense_Mutation_p.R342Q|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.R342Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2			43					ATGGGTTGCCGGAGTGTTGAA	0.423000																								0							SO:0001583	missense			ENST00000418129.2	0	1	hg19	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.776979|4.776979	0.90195|0.90195	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.81163	.|-1.46;-1.46;-1.46	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.053332	.|0.64402	.|N	.|0.000001	D|D	0.90841|0.90841	0.7123|0.7123	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.90920|0.90920	0.4782|0.4782	4|9	.|0.87932	.|D	.|0	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|468	.|Q9UPR0	.|PLCL2_HUMAN	R|Q	86|342;469;342;342	.|ENSP00000409637:R342Q;ENSP00000379979:R342Q;ENSP00000412836:R342Q	.|ENSP00000285094:R469Q	G|R	+|+	1|2	0|0	PLCL2|PLCL2	17027245|17027245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	9.869000|9.869000	0.99810|0.99810	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GGA|CGG		TCGA-IB-AAUU-01A-11D-A377-08	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3	0	0	0	6	651	0	131	0	2.082527e-02	0	20	0	131	2		0	0	0	0	0	2	1	9.632171e-01	6	640	0	130	2		0	0	0	0	131	2	-2.288576	0	1	0	0		1	2	3	5	2.498643	1	0.370000	3.300000	0.593404	0.080000	1.000000e-02	0.170000	0.100000	0.087270	0.080000	0	0.040000	0.130000
ZFP42	132625	broad.mit.edu	37	4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:188924640G>A	ENST00000326866.4	+	4	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein			27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)			GAAAGCGTTCGTTGAGAGCTC	0.502000																								0							SO:0001583	missense			ENST00000326866.4	1	1	hg19	CCDS3849.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.42	1.345682	0.24426	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.41400	1.0;1.0	4.39	-8.78	0.00824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.214960	0.06385	N	0.715986	T	0.16171	0.0389	N	0.16478	0.41	0.09310	N	1	B	0.27316	0.175	B	0.14023	0.01	T	0.08953	-1.0697	10	0.17832	T	0.49	.	1.3926	0.02253	0.1903:0.3391:0.2374:0.2333	.	227	Q96MM3	ZFP42_HUMAN	I	227	ENSP00000317686:V227I;ENSP00000424662:V227I	ENSP00000317686:V227I	V	+	1	0	ZFP42	189161634	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.295000	0.19065	-3.355000	0.00180	-0.892000	0.02923	GTT		TCGA-IB-AAUU-01A-11D-A377-08	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	1	0	1	55	283	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	55	281	0	96	2		0	0	0	0	98	2	-3.162619	1	1	121412	2	32	1	1	2	3	1.922928	0	0.370000	3.300000	0.467523	0.990000	8.000000e-01	1.000000	1.000000	0.970440	0.990000	1	0.910000	1.000000
TBC1D1	23216	broad.mit.edu	37	4	38023260	38023260	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:38023260G>T	ENST00000261439.4	+	6	1486	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	TBC1D1_ENST00000508802.1_Missense_Mutation_p.Q377H	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1			36					CCGCAGTGCAGCAGACAGCTA	0.517000																								0							SO:0001583	missense			ENST00000261439.4	0	1	hg19	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.32|17.32	3.358757|3.358757	0.61403|0.61403	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000508802;ENST00000261439;ENST00000446803	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.76|5.76	4.01|4.01	0.46588|0.46588	.|Phosphotyrosine interaction domain (1);	.|0.112392	.|0.39985	.|N	.|0.001213	T|T	0.26738|0.26738	0.0654|0.0654	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D;B;D	.|0.89917	.|1.0;1.0;0.028;1.0	.|D;D;B;D	.|0.81914	.|0.99;0.995;0.018;0.99	T|T	0.02713|0.02713	-1.1120|-1.1120	5|10	.|0.40728	.|T	.|0.16	-24.9276|-24.9276	5.7525|5.7525	0.18154|0.18154	0.1938:0.0:0.6522:0.154|0.1938:0.0:0.6522:0.154	.|.	.|377;377;109;377	.|B9A6J6;E9PGH8;Q6PJJ8;Q86TI0	.|.;.;.;TBCD1_HUMAN	S|H	25|377;377;248	.|ENSP00000423651:Q377H;ENSP00000261439:Q377H;ENSP00000396877:Q248H	.|ENSP00000261439:Q377H	A|Q	+|+	1|3	0|2	TBC1D1|TBC1D1	37699655|37699655	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	6.142000|6.142000	0.71750|0.71750	0.761000|0.761000	0.33130|0.33130	0.591000|0.591000	0.81541|0.81541	GCA|CAG		TCGA-IB-AAUU-01A-11D-A377-08	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	1	0	0	8	100	0	21	1	8.613083e-01	2	45	0	21	2		0	0	0	0	0	2	1	9.894837e-01	8	98	0	21	2		0	0	0	0	21	2	-12.812990	1	1	0	0		1	2	2	4	2.192112	1	0.370000	3.300000	0.538901	0.570000	2.700000e-01	1.000000	1.000000	0.596307	0.570000	0	0.400000	0.790000
SLAIN2	57606	broad.mit.edu	37	4	48379970	48379970	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:48379970C>G	ENST00000264313.6	+	3	1014	c.596C>G	c.(595-597)cCt>cGt	p.P199R	SLAIN2_ENST00000512093.1_Missense_Mutation_p.P6R|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2			13					TACACCAGTCCTTACAGTCCA	0.413000																								0							SO:0001583	missense			ENST00000264313.6	1	1	hg19	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377180	0.61735	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.76	5.76	0.90799	.	0.207938	0.42420	D	0.000708	T	0.52613	0.1745	L	0.29908	0.895	0.46131	D	0.998881	B	0.34200	0.441	B	0.36030	0.216	T	0.55866	-0.8073	9	0.87932	D	0	-3.4428	19.9601	0.97247	0.0:1.0:0.0:0.0	.	199	Q9P270	SLAI2_HUMAN	R	199;6	.	ENSP00000264313:P199R	P	+	2	0	SLAIN2	48074727	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.168000	0.64978	2.720000	0.93068	0.655000	0.94253	CCT		TCGA-IB-AAUU-01A-11D-A377-08	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	1	0	1	132	351	0	101	1	9.999582e-01	12	30	0	101	2		0	0	0	0	0	2	1	1	132	348	0	101	2		0	0	0	0	101	2	-7.211354	1	1	0	0		1	2	2	4	2.192112	1	0.370000	3.300000	0.538901	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
GRM6	2916	broad.mit.edu	37	5	178413350	178413350	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:178413350G>A	ENST00000517717.1	-	9	1943	c.1905C>T	c.(1903-1905)taC>taT	p.Y635Y	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.Y635Y			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6			55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AGGTGATGGCGTAGATGAGGA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000517717.1	1	1	hg19	CCDS4442.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2	0	0	1	54	124	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1	54	124	0	28	2		0	0	0	0	28	2	-3.222074	1	1	121406	42	44	1	1	2	3	1.913234	0	0.370000	3.300000	0.465014	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ITGA2	3673	broad.mit.edu	37	5	52356793	52356793	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:52356793G>A	ENST00000296585.5	+	12	1518	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)			47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)			TGCTCCTCGGGCAAATTATAC	0.443000																								0							SO:0001583	missense			ENST00000296585.5	0	1	hg19	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297090	0.60086	.	.	ENSG00000164171	ENST00000296585	T	0.11169	2.8	5.77	3.84	0.44239	.	0.165528	0.56097	D	0.000037	T	0.07548	0.0190	L	0.46885	1.475	0.38632	D	0.951406	B;P	0.36412	0.104;0.552	B;B	0.27076	0.04;0.076	T	0.11591	-1.0581	10	0.37606	T	0.19	.	5.5765	0.17227	0.1627:0.0:0.5942:0.2431	.	459;459	E7ESP4;P17301	.;ITA2_HUMAN	T	459	ENSP00000296585:A459T	ENSP00000296585:A459T	A	+	1	0	ITGA2	52392550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.461000	0.53035	2.720000	0.93068	0.650000	0.86243	GCA		TCGA-IB-AAUU-01A-11D-A377-08	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	0	0	0	5	408	0	84	0	1.193541e-01	0	40	0	84	2		0	0	0	0	0	2	1	9.367007e-01	7	403	0	82	2		0	0	0	0	84	2	-2.526493	1	1	0	0		1	1	2	3	1.920332	0	0.370000	3.300000	0.462480	0.080000	2.000000e-02	1.000000	0.080000	0.141955	0.080000	0	0.040000	0.140000
TTBK1	84630	broad.mit.edu	37	6	43222815	43222815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:43222815C>T	ENST00000259750.4	+	7	688	c.605C>T	c.(604-606)aCg>aTg	p.T202M	TTBK1_ENST00000304139.5_Missense_Mutation_p.T151M	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1			53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		TTTCGAGGAACGGTTCGCTAT	0.617000																								0							SO:0001583	missense			ENST00000259750.4	0	1	hg19	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712948	0.89112	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.76839	-1.05	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92756	0.7697	H	0.99336	4.52	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.95848	0.8872	10	0.87932	D	0	.	16.6948	0.85332	0.0:1.0:0.0:0.0	.	202	Q5TCY1	TTBK1_HUMAN	M	151;202;151	ENSP00000259750:T202M	ENSP00000259750:T202M	T	+	2	0	TTBK1	43330793	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	7.413000	0.80104	2.242000	0.73789	0.655000	0.94253	ACG		TCGA-IB-AAUU-01A-11D-A377-08	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3	0	0	0	5	214	0	39	0	8.560597e-04	0	2	0	39	2		0	0	0	0	0	2	1	9.367475e-01	5	212	0	38	2		0	0	0	0	39	2	-3.330339	1	1	121412	1	28	1	2	2	4	1.720841	1	0.370000	3.300000	0.411380	0.150000	5.000000e-02	1.000000	0.140000	0.278793	0.150000	0	0.090000	0.320000
DGKI	9162	broad.mit.edu	37	7	137263014	137263014	+	Splice_Site	SNP	A	A	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:137263014A>C	ENST00000288490.5	-	16	1699		c.e16+1		DGKI_ENST00000424189.2_Splice_Site|DGKI_ENST00000446122.1_Splice_Site|DGKI_ENST00000453654.2_Splice_Site	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota			84					ATGTATACCTACCCCTGCATA	0.313000																								0							SO:0001630	splice_region_variant			ENST00000288490.5	1	1	hg19	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262490	0.80358	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9475	0.71044	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGKI	136913554	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.096000	0.94182	2.080000	0.62538	0.379000	0.24179	.		TCGA-IB-AAUU-01A-11D-A377-08	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	1	0	0	23	213	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	9.999994e-01	23	209	0	44	2		0	0	0	0	45	2	-20.000000	1	1	0	0		1	2	2	4	2.161656	1	0.370000	3.300000	0.531285	0.720000	4.700000e-01	1.000000	1.000000	0.742537	0.720000	0	0.580000	0.910000
ABCB5	340273	broad.mit.edu	37	7	20793112	20793112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:20793112G>A	ENST00000404938.2	+	27	4211	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D742N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5			77					TTCAGCCCTCGATAATGACAG	0.393000																								0							SO:0001583	missense			ENST00000404938.2	1	1	hg19	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614824	0.87359	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.95756	-3.8;-3.8	5.16	4.26	0.50523	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.56097	D	0.000024	D	0.98169	0.9395	H	0.96365	3.81	0.54753	D	0.999981	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.913	D	0.98395	1.0565	10	0.87932	D	0	.	13.0851	0.59135	0.0806:0.0:0.9194:0.0	.	1187;742	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	N	1187;742	ENSP00000384881:D1187N;ENSP00000258738:D742N	ENSP00000258738:D742N	D	+	1	0	ABCB5	20759637	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.641000	0.83368	2.683000	0.91414	0.555000	0.69702	GAT		TCGA-IB-AAUU-01A-11D-A377-08	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	1	64	393	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	62	390	0	88	2		0	0	0	0	88	2	-3.075973	1	1	121410	4	34	1	2	2	4	2.177772	1	0.370000	3.300000	0.535124	0.990000	8.000000e-01	1.000000	1.000000	0.969155	0.990000	1	0.910000	1.000000
CPVL	54504	broad.mit.edu	37	7	29132283	29132283	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:29132283G>A	ENST00000409850.1	-	10	1144	c.498C>T	c.(496-498)caC>caT	p.H166H	CPVL_ENST00000265394.5_Silent_p.H166H|CPVL_ENST00000396276.3_Silent_p.H166H			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like			28					CTGCATATCCGTGGGTATCAT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000409850.1	1	1	hg19	CCDS5419.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	1	0	1	31	219	0	42	1	9.999929e-01	30	104	0	42	2		0	0	0	0	0	2	1	1	30	217	0	41	2		0	0	0	0	42	2	-3.018182	1	1	121412	4	34	1	2	2	4	2.177772	1	0.370000	3.300000	0.535124	0.920000	6.400000e-01	1.000000	1.000000	0.897332	0.920000	1	0.770000	1.000000
PRSS55	203074	broad.mit.edu	37	8	10383123	10383123	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:10383123C>T	ENST00000328655.3	+	1	68	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	PRSS55_ENST00000522210.1_Silent_p.L10L|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55			31					GTTGCTGCTCCTGTCCCTGGT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000328655.3	1	1	hg19	CCDS5976.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	1	0	1	99	161	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	99	159	0	42	2		0	0	0	0	42	2	-20.000000	1	1	0	0		1	0	2	2	1.672263	1	0.370000	3.300000	0.370000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
WHSC1L1	54904	broad.mit.edu	37	8	38205614	38205614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:38205614C>T	ENST00000317025.8	-	2	593	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A26T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A26T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A26T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1			24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		CGGATGTTGGCGGAGTCAATG	0.453000			T	NUP98	AML										Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0							SO:0001583	missense			ENST00000317025.8	0	1	hg19	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358909	0.95854	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.96651	-4.08;-4.02;-4.02;-0.76;0.39	5.56	5.56	0.83823	.	0.000000	0.47852	U	0.000201	D	0.97420	0.9156	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.996;0.999;0.99	D	0.98006	1.0363	10	0.87932	D	0	.	19.8909	0.96929	0.0:1.0:0.0:0.0	.	26;26;26;26	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	T	26	ENSP00000393284:A26T;ENSP00000313983:A26T;ENSP00000434730:A26T;ENSP00000313410:A26T;ENSP00000435422:A26T	ENSP00000313410:A26T	A	-	1	0	WHSC1L1	38324771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.745000	0.68672	2.765000	0.95021	0.655000	0.94253	GCC		TCGA-IB-AAUU-01A-11D-A377-08	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	0	0	0	5	424	0	122	0	1.973842e-01	0	58	0	122	2		0	0	0	0	0	2	1	9.359450e-01	5	419	0	120	2		0	0	0	0	122	2	-2.224503	0	1	0	0		1	0	2	2	1.672263	1	0.370000	3.300000	0.370000	0.060000	1.000000e-02	0.140000	0.060000	0.074928	0.060000	0	0.030000	0.100000
ADAM2	2515	broad.mit.edu	37	8	39646232	39646232	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:39646232C>A	ENST00000265708.4	-	8	701	c.598G>T	c.(598-600)Gtt>Ttt	p.V200F	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.V181F|ADAM2_ENST00000521880.1_Missense_Mutation_p.V200F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2			53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)		TGAGCGACAACAGTTGTATCA	0.274000																								0							SO:0001583	missense			ENST00000265708.4	1	1	hg19	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653517	0.29425	.	.	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.64438	-0.1;-0.1;-0.1	4.7	-5.11	0.02901	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.72645	0.3486	M	0.71036	2.16	0.09310	N	1	P;P;P	0.41947	0.766;0.723;0.766	P;P;P	0.60609	0.877;0.73;0.824	T	0.70008	-0.4990	8	.	.	.	.	12.6789	0.56910	0.0:0.1977:0.0:0.8023	.	200;181;200	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	F	181;200;200	ENSP00000343854:V181F;ENSP00000265708:V200F;ENSP00000429352:V200F	.	V	-	1	0	ADAM2	39765389	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.932000	0.00688	-0.905000	0.03871	0.650000	0.86243	GTT		TCGA-IB-AAUU-01A-11D-A377-08	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	1	0	0	40	479	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	40	476	0	61	2		0	0	0	0	62	2	-20.000000	1	1	0	0		1	1	7	8	3.766971	1	0.370000	3.300000	0.701422	0.880000	6.300000e-01	1.000000	1.000000	0.877360	0.880000	1	0.750000	1.000000
ZMAT4	79698	broad.mit.edu	37	8	40532370	40532370	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:40532370C>G	ENST00000297737.6	-	5	576	c.430G>C	c.(430-432)Gac>Cac	p.D144H	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4			18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)		CAGTATCTGTCTGAATCTCTT	0.507000																								0							SO:0001583	missense			ENST00000297737.6	1	1	hg19	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608201	0.87258	.	.	ENSG00000165061	ENST00000297737;ENST00000519406	T;T	0.42513	0.97;0.97	5.88	5.88	0.94601	Zinc finger, U1-type (1);	0.260803	0.46442	D	0.000283	T	0.34803	0.0910	N	0.24115	0.695	0.58432	D	0.999996	P	0.49961	0.93	P	0.44732	0.459	T	0.03773	-1.1005	10	0.15066	T	0.55	-30.1803	18.7792	0.91925	0.0:1.0:0.0:0.0	.	144	Q9H898	ZMAT4_HUMAN	H	144	ENSP00000297737:D144H;ENSP00000428423:D144H	ENSP00000297737:D144H	D	-	1	0	ZMAT4	40651527	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	7.376000	0.79658	2.782000	0.95742	0.557000	0.71058	GAC		TCGA-IB-AAUU-01A-11D-A377-08	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	1	0	0	228	2986	0	177	0	0	0	1	0	177	2		0	0	0	0	0	2	1	1	226	2952	0	175	2		0	0	0	0	177	2	-20.000000	1	1	0	0		1	1	15	16	7.312373	1	0.370000	3.300000	0.824513	0.990000	9.900000e-01	1.000000	1.000000	0.999998	0.990000	1	0.990000	1.000000
CHMP4C	92421	broad.mit.edu	37	8	82670525	82670525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:82670525G>A	ENST00000297265.4	+	4	825	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C			10					CGTCGATCCCGAGCAGGTCTG	0.458000																								0							SO:0001583	missense			ENST00000297265.4	1	1	hg19	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727483	0.30593	.	.	ENSG00000164695	ENST00000297265	T	0.52526	0.66	6.17	5.3	0.74995	.	0.268617	0.28908	N	0.013750	T	0.25232	0.0613	N	0.08118	0	0.43334	D	0.995379	B	0.29037	0.231	B	0.17722	0.019	T	0.10497	-1.0627	10	0.15499	T	0.54	-2.4061	13.2245	0.59907	0.0759:0.0:0.9241:0.0	.	211	Q96CF2	CHM4C_HUMAN	Q	211	ENSP00000297265:R211Q	ENSP00000297265:R211Q	R	+	2	0	CHMP4C	82833080	0.991000	0.36638	0.925000	0.36789	0.351000	0.29236	1.321000	0.33678	1.633000	0.50488	0.655000	0.94253	CGA		TCGA-IB-AAUU-01A-11D-A377-08	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	1	0	1	56	245	0	75	1	9.999999e-01	37	69	0	75	2		0	0	0	0	0	2	1	1	55	241	0	73	2		0	0	0	0	75	2	-2.893999	1	1	121402	2	33	1	1	2	3	1.874590	1	0.370000	3.300000	0.468354	0.990000	9.200000e-01	1.000000	1.000000	0.995640	0.990000	1	0.990000	1.000000
TGFBR1	7046	broad.mit.edu	37	9	101907091	101907091	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:101907091G>C	ENST00000374994.4	+	6	1168	c.1051G>C	c.(1051-1053)Gac>Cac	p.D351H	TGFBR1_ENST00000552516.1_Missense_Mutation_p.D355H|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D274H|RNA5SP290_ENST00000517133.1_RNA|TGFBR1_ENST00000550253.1_Missense_Mutation_p.D282H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1			27		Acute lymphoblastic leukemia(62;0.0559)			CTGTATTGCAGACTTAGGACT	0.358000																								0							SO:0001583	missense			ENST00000374994.4	0	1	hg19	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867703	0.91587	.	.	ENSG00000106799	ENST00000374994;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042450	0.85682	N	0.000000	D	0.98726	0.9572	H	0.99964	5.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99063	1.0831	10	0.87932	D	0	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	274;351	P36897-3;P36897	.;TGFR1_HUMAN	H	351;274;355;282	ENSP00000364133:D351H;ENSP00000364129:D274H;ENSP00000447297:D355H;ENSP00000450052:D282H	ENSP00000364129:D274H	D	+	1	0	TGFBR1	100946912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.796000	0.99103	2.854000	0.98071	0.655000	0.94253	GAC		TCGA-IB-AAUU-01A-11D-A377-08	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3	0	0	0	7	319	0	94	0	1.613972e-01	0	29	0	94	2	1	9.688136e-01	3	280	0	296	2	1	9.804713e-01	7	317	0	93	2		0	0	0	0	94	2	-7.506397	1	1	0	0		1	0	2	2	1.610059	1	0.370000	3.300000	0.370000	0.120000	4.000000e-02	0.230000	0.120000	0.131135	0.120000	0	0.080000	0.170000
MUSK	4593	broad.mit.edu	37	9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:113547892C>T	ENST00000374448.4	+	13	1806	c.1672C>T	c.(1672-1674)Ccg>Tcg	p.P558S	MUSK_ENST00000416899.2_Missense_Mutation_p.P550S|MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase			49					CCAGAGGATGCCGCTCCTTCT	0.498000																								0							SO:0001583	missense			ENST00000374448.4	0	1	hg19	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084498	0.76642	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88664	-0.83;-2.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90595	0.4540	10	0.33940	T	0.23	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	558	O15146	MUSK_HUMAN	S	564;558;558;472;472;74;556;74	ENSP00000363571:P558S;ENSP00000363561:P74S	ENSP00000189978:P564S	P	+	1	0	MUSK	112587713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	CCG		TCGA-IB-AAUU-01A-11D-A377-08	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	6	723	0	165		0	0	0	0	165	2		0	0	0	0	0	2	1	9.637002e-01	6	714	0	163	2		0	0	0	0	165	2	-1.857201	0	1	0	0		1	0	0	0	1.569305	0	0.370000	3.300000	0.348298	0.040000	0	0.090000	0.040000	0.049920	0.040000	0	0.020000	0.070000
LHX3	8022	broad.mit.edu	37	9	139090879	139090879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:139090879G>A	ENST00000371748.5	-	4	577	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	LHX3_ENST00000371746.3_Missense_Mutation_p.R166C	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3			8		Myeloproliferative disorder(178;0.0511)			ATGGTCGTGCGCGGCCGCTTG	0.761000																								0							SO:0001583	missense			ENST00000371748.5	1	0	hg19	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683978	0.88639	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.99186	-5.53;-5.53	3.81	3.81	0.43845	Homeobox (3);Zinc finger, LIM-type (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99425	4.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97659	1.0159	10	0.87932	D	0	.	10.2927	0.43605	0.0:0.0:0.8028:0.1972	.	161;166	Q9UBR4;F1T0D9	LHX3_HUMAN;.	C	161;166;164	ENSP00000360813:R161C;ENSP00000360811:R166C	ENSP00000319224:R164C	R	-	1	0	LHX3	138230700	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.984000	0.76186	1.959000	0.56917	0.555000	0.69702	CGC		TCGA-IB-AAUU-01A-11D-A377-08	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3	1	0	0	19	57	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.999967e-01	19	57	0	9	2		0	0	0	0	9	2	-20.000000	1	1	0	0		1	0	2	2	1.649119	1	0.370000	3.300000	0.370000	0.990000	8.700000e-01	1.000000	1.000000	0.992339	0.990000	1	0.990000	1.000000
PDCD1LG2	80380	broad.mit.edu	37	9	5535034	5535034	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:5535034G>A	ENST00000397747.3	+	3	593	c.345G>A	c.(343-345)ctG>ctA	p.L115L	PDCD1LG2_ENST00000397745.2_Silent_p.L115L	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2			8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)			ACAAGTACCTGACTCTGAAAG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000397747.3	1	1	hg19	CCDS6465.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051634.1	1	0	1	9	77	0	30	0	1.404494e-02	0	2	0	30	2		0	0	0	0	0	2	1	9.950543e-01	9	77	0	28	2		0	0	0	0	30	2	-15.492490	1	1	0	0		1	0	2	2	1.586295	1	0.370000	3.300000	0.370000	0.570000	2.900000e-01	0.960000	1.000000	0.600135	0.570000	0	0.420000	0.770000
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	p.Q394Q(1)		43					gctgctgctgctgttgttggt	0.582000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000524145.1	0	1	hg19	CCDS48154.1																																																																																				TCGA-IB-AAUU-01A-11D-A377-08	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	0	0	0	4	120	0	30	0	1.029019e-02	0	4	0	30	2	0	0	0	1	0	1	2	1	8.857989e-01	3	119	0	29	2		0	0	0	0	30	2	-2.472580	0	1	0	0		1	0	1	1			0.370000	3.300000	0.370000	0.090000	2.000000e-02	0.200000	0.090000	0.105781	0.090000	0	0.050000	0.150000
VGLL1	51442	broad.mit.edu	37	X	135630884	135630884	+	Silent	SNP	G	G	A	rs151216817		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:135630884G>A	ENST00000370634.3	+	3	521	c.351G>A	c.(349-351)ccG>ccA	p.P117P	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1			20	Acute lymphoblastic leukemia(192;0.000127)				AGTTCTCACCGTCCCTGGCTA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000370634.3	0	1	hg19	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.672630	0.00758	0.0	1.49E-4	ENSG00000102243	ENST00000440515	.	.	.	5.81	2.14	0.27477	.	.	.	.	.	T	0.37945	0.1022	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23084	-1.0198	4	.	.	.	1.9921	10.4023	0.44237	0.224:0.0:0.776:0.0	.	.	.	.	I	82	.	.	V	+	1	0	VGLL1	135458550	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.073000	0.14640	0.000000	0.14550	-2.015000	0.00435	GTC		TCGA-IB-AAUU-01A-11D-A377-08	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	0	0	0	7	654	0	134	0	4.482178e-02	0	26	0	134	2		0	0	0	0	0	2	1	9.801466e-01	7	649	0	134	2		0	0	0	0	134	2	-2.230565	0	1	121410	9	46	1	0	1	1			0.370000	3.300000	0.370000	0.020000	0	0.060000	0.030000	0.032537	0.020000	0	0.010000	0.040000
FAM47C	442444	broad.mit.edu	37	X	37026745	37026745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:37026745G>A	ENST00000358047.3	+	1	314	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C			120					AGGTCCCCAAGCTGACCCCAA	0.532000																								0							SO:0001583	missense			ENST00000358047.3	1	1	hg19	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900661	0.17686	.	.	ENSG00000198173	ENST00000358047	T	0.20069	2.1	0.502	-0.96	0.10340	.	.	.	.	.	T	0.18383	0.0441	L	0.43701	1.375	0.09310	N	1	B	0.28584	0.216	B	0.36959	0.237	T	0.38243	-0.9670	9	0.33940	T	0.23	.	5.7074	0.17915	0.0:0.3376:0.6624:0.0	.	88	Q5HY64	FA47C_HUMAN	T	88	ENSP00000367913:A88T	ENSP00000367913:A88T	A	+	1	0	FAM47C	36936666	0.001000	0.12720	0.002000	0.10522	0.010000	0.07245	0.310000	0.19356	-0.497000	0.06641	0.292000	0.19580	GCT		TCGA-IB-AAUU-01A-11D-A377-08	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	1	0	1	146	131	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	143	130	0	55	2		0	0	0	0	55	2	-20.000000	1	1	0	0		1	0	1	1			0.370000	3.300000	0.370000	0.980000	9.400000e-01	1.000000	0.990000	0.989971	0.980000	1	0.970000	1.000000
