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
HMX2	3167	broad.mit.edu	37	10	124908058	124908064	+	Frame_Shift_Del	DEL	AGCCGGA	AGCCGGA	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:124908058_124908064delAGCCGGA	ENST00000339992.3	+	1	421_427	c.164_170delAGCCGGA	c.(163-171)gagccggacfs	p.EPD55fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2			7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)			GAGGAGGAGGAGCCGGACGACGGCTGG	0.710000																								0							SO:0001589	frameshift_variant			ENST00000339992.3	0	1	hg19	CCDS31305.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	1	0	0	16	135	0	27			0	0	0	27		0	0	0	0	0	0		1	0.491941	18	133	1	27	17								-19.999940	1	1	0	0		1	0	1	1	2.044470	0	0.270000	1.810000	0.268024	0.780000	4.700000e-01	1.000000	1.000000	0.789708	0.780000	0	6.100000e-01	0.980000
ARHGAP5	394	broad.mit.edu	37	14	32586406	32586406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr14:32586406delT	ENST00000345122.3	+	3	4093	c.3778delT	c.(3778-3780)tttfs	p.F1260fs	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.F1259fs|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.F1260fs|ARHGAP5_ENST00000433497.1_5'UTR|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.F1259fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5			55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)		AAGTAATTACTTTGGGATGCC	0.343000													NSCLC(9;77 350 3443 29227 41353)											0							SO:0001589	frameshift_variant			ENST00000345122.3	1	0	hg19	CCDS32062.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	1	0	0	88	484	0	78	1	9.735691e-01	9	25	0	78	2	0	0	0	0	0	0		1	1.000000	104	485	2	76	33								-20.000000	1	1	0	0		1	0	2	2	1.919825	1	0.270000	1.810000	0.270000	0.990000	9.300000e-01	1.000000	1.000000	0.996247	0.990000	1	9.900000e-01	1.000000
SLC4A2	6522	broad.mit.edu	37	7	150772809	150772810	+	Frame_Shift_Ins	INS	-	-	A	rs139739553	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			-	A	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:150772809_150772810insA	ENST00000485713.1	+	21	4458_4459	c.3418_3419insA	c.(3418-3420)catfs	p.H1140fs	SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.H1140fs|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Frame_Shift_Ins_p.H1126fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.H1131fs|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.H1058fs|FASTK_ENST00000489884.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2			33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)		TGAGCGGCTGCATCTGCTGCTC	0.599000																								0							SO:0001589	frameshift_variant			ENST00000485713.1	0	1	hg19	CCDS5917.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	1	0	0	27	399	0	104	0	9.955103e-01	0	126	0	104	2	0	0	0	0	0	0		1	1.000000	29	389	0	101	2								-7.132495	1	1	0	0		1	0	1	1	1.978737	0	0.270000	1.810000	0.233797	0.440000	3.000000e-01	0.620000	0.440000	0.458155	0.440000	0	3.600000e-01	0.540000
OGDHL	55753	broad.mit.edu	37	10	50946068	50946068	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:50946068G>A	ENST00000374103.4	-	19	2527	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	OGDHL_ENST00000432695.1_Silent_p.I605I|OGDHL_ENST00000419399.1_Silent_p.I757I|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like			61					AGTTGACCACGATCCAGTTGC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000374103.4	1	1	hg19	CCDS7234.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	1	0	0	48	1029	0	205		0	0	0	0	205	2		0	0	0	0	0	2	1	1.000000	48	1015	0	198	2								-5.060615	1	1	121412	30	50	1	0	0	0	2.033354	0	0.270000	1.810000	0.262030	0.320000	2.400000e-01	0.420000	0.330000	0.331888	0.320000	0	2.700000e-01	0.380000
HSPA8	3312	broad.mit.edu	37	11	122929855	122929855	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:122929855A>G	ENST00000532636.1	-	6	1354	c.1235T>C	c.(1234-1236)gTc>gCc	p.V412A	HSPA8_ENST00000534624.1_Missense_Mutation_p.V412A|HSPA8_ENST00000227378.3_Missense_Mutation_p.V412A|HSPA8_ENST00000533540.1_Missense_Mutation_p.V266A|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000453788.2_Missense_Mutation_p.V412A|HSPA8_ENST00000534319.1_Missense_Mutation_p.V176A|HSPA8_ENST00000526110.1_Missense_Mutation_p.V393A|SNORD14E_ENST00000364009.1_RNA|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8			36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			CTTGATGAGGACAGTCATGAC	0.453000													Colon(21;486 594 5900 6733 14272)											0							SO:0001583	missense			ENST00000532636.1	0	1	hg19	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	1.596	-0.527894	0.04112	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552	T;T;T;T;T;T;T;T	0.00932	5.53;5.53;5.53;5.53;5.53;5.53;5.53;5.53	4.85	4.85	0.62838	.	0.073163	0.52532	D	0.000068	T	0.00875	0.0029	N	0.26092	0.79	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.004;0.001;0.004	T	0.46034	-0.9220	10	0.02654	T	1	-23.4681	14.7123	0.69241	1.0:0.0:0.0:0.0	.	412;412;412	Q53GZ6;P11142-2;P11142	.;.;HSP7C_HUMAN	A	412;266;412;412;412;176;393;3	ENSP00000437125:V412A;ENSP00000437189:V266A;ENSP00000432083:V412A;ENSP00000404372:V412A;ENSP00000227378:V412A;ENSP00000433316:V176A;ENSP00000433584:V393A;ENSP00000435908:V3A	ENSP00000227378:V412A	V	-	2	0	HSPA8	122435065	0.998000	0.40836	0.932000	0.37286	0.060000	0.15804	3.668000	0.54554	1.935000	0.56089	0.459000	0.35465	GTC		TCGA-2J-AAB8-01A-12D-A40W-08	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1	0	0	0	4	287	0	45	1	9.968502e-01	31	948	0	45	2		0	0	0	0	0	2	1	0.889421	4	285	0	42	2								-3.100669	1	1	0	0		1	0	1	1	1.962501	0	0.270000	1.810000	0.230526	0.100000	3.000000e-02	0.230000	0.100000	0.118549	0.100000	0	6.000000e-02	0.170000
KCNA4	3739	broad.mit.edu	37	11	30033513	30033513	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:30033513C>T	ENST00000328224.6	-	2	1946	c.713G>A	c.(712-714)gGa>gAa	p.G238E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4			78				Dalfampridine(DB06637)	CAGGCGGCCTCCTGATTGATA	0.483000																								0							SO:0001583	missense			ENST00000328224.6	1	1	hg19	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291932	0.80914	.	.	ENSG00000182255	ENST00000328224	T	0.81247	-1.47	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91898	0.7435	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.93827	0.7124	10	0.87932	D	0	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	238	P22459	KCNA4_HUMAN	E	238	ENSP00000328511:G238E	ENSP00000328511:G238E	G	-	2	0	KCNA4	29990089	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	GGA		TCGA-2J-AAB8-01A-12D-A40W-08	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	1	0	0	52	675	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	1.000000	52	669	0	148	2								-11.054780	1	1	0	0		1	0	1	1	1.962501	0	0.270000	1.810000	0.230526	0.500000	3.700000e-01	0.640000	0.500000	0.508566	0.500000	0	4.300000e-01	0.570000
RAG1	5896	broad.mit.edu	37	11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	rs4151026		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	p.R112L(1)		65	all_lung(20;0.226)	all_hematologic(20;0.107)			CATCTCTGCCGCATCTGTGGG	0.453000									Familial Hemophagocytic Lymphohistiocytosis				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	ENST00000299440.5	0	1	hg19	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146608	0.94603	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.74737	-0.87;-0.87	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	112	P15918	RAG1_HUMAN	H	112	ENSP00000434610:R112H;ENSP00000299440:R112H	ENSP00000299440:R112H	R	+	2	0	RAG1	36551765	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.856000	0.92245	2.937000	0.99478	0.650000	0.86243	CGC		TCGA-2J-AAB8-01A-12D-A40W-08	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	0	0	0	9	410	0	58		0	0	0	0	58	2		0	0	0	0	0	2	0	0.011318	9	402	1	58	22								-2.382451	0	1	121412	3	40	1	0	1	1	1.962501	0	0.270000	1.810000	0.230526	0.150000	7.000000e-02	0.270000	0.150000	0.165595	0.150000	0	1.000000e-01	0.210000
OR52M1	119772	broad.mit.edu	37	11	4566499	4566499	+	Missense_Mutation	SNP	G	G	A	rs138278883		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:4566499G>A	ENST00000360213.1	+	1	79	c.79G>A	c.(79-81)Gtc>Atc	p.V27I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1			18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)			GTCCCTACACGTCTGGCTCTC	0.542000																								0							SO:0001583	missense			ENST00000360213.1	0	1	hg19	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.289704	0.00248	0.0	1.16E-4	ENSG00000197790	ENST00000360213	T	0.00296	8.24	4.82	-2.26	0.06867	.	0.644741	0.13674	N	0.370680	T	0.00073	0.0002	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	10	0.02654	T	1	.	6.5865	0.22624	0.4305:0.4103:0.1592:0.0	.	27	Q8NGK5	O52M1_HUMAN	I	27	ENSP00000353343:V27I	ENSP00000353343:V27I	V	+	1	0	OR52M1	4523075	0.000000	0.05858	0.003000	0.11579	0.145000	0.21501	-1.630000	0.02028	-0.158000	0.11040	-0.294000	0.09567	GTC		TCGA-2J-AAB8-01A-12D-A40W-08	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	0	0	0	6	258	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	0.965056	6	257	0	65	2								-3.307470	1	1	121412	18	43	1	0	1	1	1.962501	0	0.270000	1.810000	0.230526	0.160000	6.000000e-02	0.320000	0.160000	0.182603	0.160000	0	1.100000e-01	0.250000
GPR133	283383	broad.mit.edu	37	12	131471825	131471825	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:131471825G>T	ENST00000261654.5	+	6	1235	c.676G>T	c.(676-678)Gat>Tat	p.D226Y	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.D258Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133			67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				CGGTGCTTTCGATGAGTTCAT	0.542000																								0							SO:0001583	missense			ENST00000261654.5	1	1	hg19	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355239	0.61293	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015	D;D;D	0.82803	-1.65;-1.65;-1.65	4.46	4.46	0.54185	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94367	0.7592	10	0.66056	D	0.02	.	16.1186	0.81325	0.0:0.0:1.0:0.0	.	258;226	B7ZLF7;Q6QNK2	.;GP133_HUMAN	Y	226;166;258	ENSP00000261654:D226Y;ENSP00000442501:D166Y;ENSP00000444425:D258Y	ENSP00000261654:D226Y	D	+	1	0	GPR133	130037778	1.000000	0.71417	0.280000	0.24747	0.426000	0.31534	8.703000	0.91344	2.024000	0.59613	0.591000	0.81541	GAT		TCGA-2J-AAB8-01A-12D-A40W-08	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	0	0	0	9	386	0	90	0	6.961761e-04	0	2	0	90	2		0	0	0	0	0	2	1	0.993714	8	378	0	89	2								-2.683534	1	1	0	0		1	0	1	1	1.830850	1	0.270000	1.810000	0.161305	0.140000	7.000000e-02	0.260000	0.150000	0.160273	0.140000	0	1.000000e-01	0.210000
GSG1	83445	broad.mit.edu	37	12	13240148	13240148	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:13240148C>T	ENST00000396302.3	-	5	898	c.700G>A	c.(700-702)Gac>Aac	p.D234N	GSG1_ENST00000432710.2_Silent_p.A205A|GSG1_ENST00000337630.6_Silent_p.A192A|GSG1_ENST00000351606.6_Missense_Mutation_p.D270N|GSG1_ENST00000457134.2_Silent_p.A141A|GSG1_ENST00000396310.2_Silent_p.A161A|GSG1_ENST00000537302.1_Silent_p.A164A|GSG1_ENST00000324458.8_Silent_p.A228A	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1			10		Prostate(47;0.183)			AGTTGACAGTCGCTTGGAAGA	0.507000																								0							SO:0001583	missense			ENST00000396302.3	1	1	hg19	CCDS8659.2	.	.	.	.	.	.	.	.	.	.	C	3.860	-0.030023	0.07543	.	.	ENSG00000111305	ENST00000396302;ENST00000351606;ENST00000405543	T;T	0.38240	1.16;1.15	5.2	-0.697	0.11284	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.05550	-1.0878	8	0.36615	T	0.2	.	7.5868	0.27998	0.0:0.1412:0.4491:0.4097	.	270;270;234	Q2KHT4-7;G3XAB9;F1T0A0	.;.;.	N	234;270;231	ENSP00000379596:D234N;ENSP00000336857:D270N	ENSP00000336857:D270N	D	-	1	0	GSG1	13131415	0.994000	0.37717	0.994000	0.49952	0.812000	0.45895	0.278000	0.18753	0.004000	0.14682	-0.477000	0.04895	GAC		TCGA-2J-AAB8-01A-12D-A40W-08	GSG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316545.1	1	0	0	82	432	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	1.000000	80	428	0	118	2								-20.000000	1	1	121412	4	35	1	2	2	4	2.151653	1	0.270000	1.810000	0.305622	0.990000	9.900000e-01	1.000000	1.000000	0.999324	0.990000	1	9.900000e-01	1.000000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	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-2J-AAB8-01A-12D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	18	188	0	73	1	2.647824e-01	4	7	0	73	2	1	1	36	335	0	321	2	1	0.999983	17	185	0	69	2								-7.949440	1	1	0	0		1	2	2	4	2.151653	1	0.270000	1.810000	0.305622	0.720000	4.300000e-01	1.000000	1.000000	0.744243	0.720000	0	5.600000e-01	1.000000
KCNA1	3736	broad.mit.edu	37	12	5021099	5021099	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:5021099C>T	ENST00000382545.3	+	2	1662	c.555C>T	c.(553-555)tgC>tgT	p.C185C	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)			63				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TCATCTTTTGCCTGGAGACGC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000382545.3	0	1	hg19	CCDS8535.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	0	0	0	5	348	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	0.935118	5	342	0	56	2								-3.092612	1	1	0	0		1	1	2	3	2.134376	0	0.270000	1.810000	0.285435	0.120000	4.000000e-02	1.000000	0.110000	0.236770	0.120000	0	7.000000e-02	0.230000
KRT71	112802	broad.mit.edu	37	12	52946543	52946543	+	Missense_Mutation	SNP	C	C	T	rs665522	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:52946543C>T	ENST00000267119.5	-	1	388	c.319G>A	c.(319-321)Gtc>Atc	p.V107I		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71			22					CTCTCATTGACGGTAACCTGG	0.617000																								0							SO:0001583	missense			ENST00000267119.5	1	0	hg19	CCDS8831.1	383	0.17536630036630035	143	0.29065040650406504	60	0.16574585635359115	10	0.017482517482517484	170	0.22427440633245382	C	8.203	0.798579	0.16397	0.300272	0.23686	ENSG00000139648	ENST00000267119	T	0.76839	-1.05	4.82	3.0	0.34707	.	0.000000	0.40728	N	0.001039	T	0.00012	0.0000	L	0.37697	1.125	0.36952	P	0.10709500000000005	B	0.26147	0.143	B	0.21360	0.034	T	0.07501	-1.0769	9	0.23891	T	0.37	.	8.1494	0.31132	0.0:0.6857:0.0:0.3143	rs665522;rs1621577;rs17730179;rs665522	107	Q3SY84	K2C71_HUMAN	I	107	ENSP00000267119:V107I	ENSP00000267119:V107I	V	-	1	0	KRT71	51232810	0.001000	0.12720	0.740000	0.30986	0.941000	0.58515	-0.112000	0.10791	0.579000	0.29504	-0.258000	0.10820	GTC		TCGA-2J-AAB8-01A-12D-A40W-08	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	0	0	1	62	340	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1.000000	61	338	0	58	2								-2.055756	0	1	121410	25482	77	1	1	2	3	2.124965	0	0.270000	1.810000	0.284489	0.990000	9.100000e-01	1.000000	1.000000	0.994994	0.990000	1	9.900000e-01	1.000000
HNRNPA1	3178	broad.mit.edu	37	12	54675182	54675182	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:54675182C>T	ENST00000340913.6	+	2	81	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	CBX5_ENST00000209875.4_5'Flank|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.P10S|RP11-968A15.8_ENST00000553061.1_RNA|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P10S|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P10S	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1			20					TCCTAAAGAGCCCGAACAGCT	0.488000													Colon(83;502 1289 8436 16406 24870)											0							SO:0001583	missense			ENST00000340913.6	1	1	hg19	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701605	0.88924	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.43	4.43	0.53597	.	0.000000	0.50627	D	0.000115	D	0.89167	0.6638	L	0.33189	0.99	0.54753	D	0.999987	D;D;P;B;D;D	0.58620	0.96;0.98;0.952;0.168;0.98;0.983	P;P;P;B;P;P	0.56278	0.575;0.716;0.575;0.191;0.716;0.795	D	0.90171	0.4235	10	0.59425	D	0.04	.	15.3753	0.74598	0.0:1.0:0.0:0.0	.	10;10;10;10;10;10	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	S	10;10;10;10;10;10;10;10;10;10;29	ENSP00000448617:P10S;ENSP00000448229:P10S;ENSP00000341826:P10S;ENSP00000333504:P10S;ENSP00000448117:P10S;ENSP00000447260:P10S;ENSP00000447782:P29S	ENSP00000333504:P10S	P	+	1	0	HNRNPA1	52961449	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.705000	0.84606	2.407000	0.81776	0.491000	0.48974	CCC		TCGA-2J-AAB8-01A-12D-A40W-08	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	1	0	1	58	367	0	90	1	1	181	487	0	90	2		0	0	0	0	0	2	1	1.000000	57	362	0	88	2								-19.999980	1	1	0	0		1	1	2	3	2.124965	0	0.270000	1.810000	0.284489	0.990000	8.000000e-01	1.000000	1.000000	0.971104	0.990000	1	9.100000e-01	1.000000
ITGA7	3679	broad.mit.edu	37	12	56086734	56086734	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:56086734C>T	ENST00000555728.1	-	22	2898	c.2870G>A	c.(2869-2871)cGg>cAg	p.R957Q	ITGA7_ENST00000452168.2_Missense_Mutation_p.R820Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R913Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R917Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R907Q|ITGA7_ENST00000257880.7_Missense_Mutation_p.R957Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R913Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R917Q			Q13683	ITA7_HUMAN	integrin, alpha 7			50					CAGCTCCCGCCGCCTCCTATC	0.597000																								0							SO:0001583	missense			ENST00000555728.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	31	5.096296	0.94197	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.17	5.17	0.71159	Integrin alpha-2 (1);	0.262756	0.29861	N	0.011019	T	0.57169	0.2035	M	0.72353	2.195	0.34499	D	0.705846	D;P;D;D	0.60160	0.963;0.948;0.969;0.987	P;P;P;P	0.56612	0.745;0.768;0.802;0.776	T	0.69709	-0.5072	10	0.56958	D	0.05	.	14.1032	0.65070	0.0:1.0:0.0:0.0	.	820;957;917;976	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	Q	917;913;907;820;957;917;913;786;957	ENSP00000452120:R917Q;ENSP00000257879:R913Q;ENSP00000343009:R907Q;ENSP00000393844:R820Q;ENSP00000257880:R957Q;ENSP00000377777:R917Q;ENSP00000377776:R913Q;ENSP00000452387:R957Q	ENSP00000257879:R913Q	R	-	2	0	ITGA7	54373001	0.899000	0.30636	1.000000	0.80357	0.989000	0.77384	1.504000	0.35726	2.706000	0.92434	0.585000	0.79938	CGG		TCGA-2J-AAB8-01A-12D-A40W-08	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	1	0	0	17	190	0	23	0	1.806042e-01	0	9	0	23	2		0	0	0	0	0	2	1	0.999967	17	186	0	22	2								-3.142732	1	1	121412	3	37	1	1	2	3	2.124965	0	0.270000	1.810000	0.284489	0.650000	3.800000e-01	1.000000	0.620000	0.684621	0.650000	0	5.000000e-01	0.900000
LATS2	26524	broad.mit.edu	37	13	21562295	21562295	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:21562295G>T	ENST00000382592.4	-	4	2029	c.1624C>A	c.(1624-1626)Cag>Aag	p.Q542K	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Missense_Mutation_p.Q542K	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2			45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)			CGGAGGCTCTGCTCCATGCCT	0.657000																								0							SO:0001583	missense			ENST00000382592.4	1	1	hg19	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592668	0.46214	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.58652	0.32;0.32	5.12	5.12	0.69794	.	0.189519	0.37577	N	0.002035	T	0.46288	0.1385	N	0.22421	0.69	0.45979	D	0.998794	P	0.47762	0.9	B	0.40940	0.344	T	0.42172	-0.9467	10	0.30854	T	0.27	.	18.8138	0.92070	0.0:0.0:1.0:0.0	.	542	Q9NRM7	LATS2_HUMAN	K	542	ENSP00000372035:Q542K;ENSP00000441817:Q542K	ENSP00000372035:Q542K	Q	-	1	0	LATS2	20460295	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.679000	0.61649	2.691000	0.91804	0.549000	0.68633	CAG		TCGA-2J-AAB8-01A-12D-A40W-08	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1	1	0	0	42	303	0	67	0	2.608791e-01	0	8	0	67	2		0	0	0	0	0	2	1	1.000000	42	296	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.232580	1	0.270000	1.810000	0.325542	0.990000	7.300000e-01	1.000000	1.000000	0.951615	0.990000	1	8.600000e-01	1.000000
LATS2	26524	broad.mit.edu	37	13	21562296	21562296	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:21562296C>T	ENST00000382592.4	-	4	2028	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Silent_p.E541E	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2			45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)			GGAGGCTCTGCTCCATGCCTG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000382592.4	1	1	hg19	CCDS9294.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1	1	0	0	44	303	0	65	0	3.265337e-01	0	9	0	65	2		0	0	0	0	0	2	1	1.000000	44	296	0	62	2								-20.000000	1	1	121390	2	35	1	1	2	3	2.232580	1	0.270000	1.810000	0.325542	0.990000	7.700000e-01	1.000000	1.000000	0.966245	0.990000	1	9.000000e-01	1.000000
TJP1	7082	broad.mit.edu	37	15	30020212	30020212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:30020212G>A	ENST00000346128.6	-	16	2503	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	TJP1_ENST00000356107.6_Nonsense_Mutation_p.R677*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R677*|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000400011.2_Nonsense_Mutation_p.R681*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1			68		all_lung(180;7.48e-11)|Breast(32;0.000153)			CCAGCGTCTCGTGGTTCACTC	0.393000													Melanoma(77;681 1843 6309 6570)											0							SO:0001587	stop_gained			ENST00000346128.6	0	1	hg19	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	38	7.086799	0.98055	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.42	3.2	0.36748	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9192	0.52783	0.0:0.0:0.419:0.581	.	.	.	.	X	677;681;677;677;677	.	.	R	-	1	2	TJP1	27807504	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.681000	0.61663	1.366000	0.46076	0.655000	0.94253	CGA		TCGA-2J-AAB8-01A-12D-A40W-08	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	0	0	1	31	255	1	71	1	3.238952e-01	3	15	1	71	3		0	0	0	0	0	2	1	0.997561	31	255	1	71	14								-3.075765	1	1	0	0		1	1	2	3	2.057332	0	0.270000	1.810000	0.271966	0.800000	5.600000e-01	1.000000	1.000000	0.812378	0.800000	0	6.700000e-01	0.960000
ATP8B4	79895	broad.mit.edu	37	15	50223420	50223420	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:50223420C>T	ENST00000284509.6	-	16	1679	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4			73		all_lung(180;0.00183)			CTCTGGGGTCCGGGATTTAAA	0.398000																								0							SO:0001583	missense			ENST00000284509.6	1	1	hg19	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454782	0.96223	.	.	ENSG00000104043	ENST00000284509	T	0.72505	-0.66	5.61	5.61	0.85477	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.90082	3.085	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.89451	0.3730	10	0.87932	D	0	.	17.1302	0.86724	0.0:1.0:0.0:0.0	.	513	Q8TF62	AT8B4_HUMAN	Q	513	ENSP00000284509:R513Q	ENSP00000284509:R513Q	R	-	2	0	ATP8B4	48010712	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.532000	0.81985	2.648000	0.89879	0.585000	0.79938	CGG		TCGA-2J-AAB8-01A-12D-A40W-08	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	1	0	1	41	301	0	69	0	0	0	1	0	69	2		0	0	0	0	0	2	1	1.000000	41	298	0	68	2								-3.075779	1	1	0	0		1	1	2	3	2.061404	0	0.270000	1.810000	0.271966	0.890000	6.500000e-01	1.000000	1.000000	0.883329	0.890000	1	7.600000e-01	1.000000
HCN4	10021	broad.mit.edu	37	15	73616169	73616169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:73616169G>T	ENST00000261917.3	-	8	3258	c.2265C>A	c.(2263-2265)tgC>tgA	p.C755*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4			55					CGCGGTGCGCGCAGTGGGCCA	0.637000																								0							SO:0001587	stop_gained			ENST00000261917.3	0	1	hg19	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	43	10.237229	0.99366	.	.	ENSG00000138622	ENST00000261917	.	.	.	3.45	-4.57	0.03421	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	5.844	0.18652	0.4255:0.0:0.4383:0.1362	.	.	.	.	X	755	.	ENSP00000261917:C755X	C	-	3	2	HCN4	71403222	0.001000	0.12720	0.425000	0.26659	0.252000	0.25951	-1.587000	0.02108	-1.258000	0.02471	0.305000	0.20034	TGC		TCGA-2J-AAB8-01A-12D-A40W-08	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	1	0	1	36	192	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1.000000	36	189	0	43	2								-3.345269	1	1	0	0		1	1	2	3	2.061404	0	0.270000	1.810000	0.271966	0.990000	8.500000e-01	1.000000	1.000000	0.987738	0.990000	1	9.900000e-01	1.000000
UMOD	7369	broad.mit.edu	37	16	20355441	20355441	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:20355441G>A	ENST00000570689.1	-	6	1382	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	UMOD_ENST00000396134.2_Silent_p.I445I|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396142.2_Silent_p.I412I|UMOD_ENST00000396138.4_Silent_p.I461I|UMOD_ENST00000424589.1_Silent_p.I445I|UMOD_ENST00000302509.4_Silent_p.I412I			P07911	UROM_HUMAN	uromodulin			41					CACGGATGATGATCTCATCTG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000570689.1	1	1	hg19	CCDS10583.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1	1	0	0	18	256	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	0.999983	17	255	0	54	2								-3.318794	1	1	0	0		1	1	2	3	2.123221	0	0.270000	1.810000	0.283541	0.520000	3.100000e-01	1.000000	0.490000	0.568936	0.520000	0	4.000000e-01	0.710000
SRCAP	10847	broad.mit.edu	37	16	30723277	30723277	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:30723277C>G	ENST00000262518.4	+	12	1999	c.1614C>G	c.(1612-1614)agC>agG	p.S538R	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.S538R|SRCAP_ENST00000395059.2_Missense_Mutation_p.S538R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein			136			Colorectal(24;0.198)		AATCACAGAGCCAAGCAGATG	0.498000																								0							SO:0001583	missense			ENST00000262518.4	1	1	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	7.096	0.573060	0.13623	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91237	-2.81;-2.79;-2.79	4.74	3.79	0.43588	.	0.097043	0.46442	D	0.000291	D	0.83078	0.5176	L	0.36672	1.1	0.28350	N	0.920921	P;P;P	0.37276	0.589;0.589;0.454	B;B;B	0.33454	0.108;0.164;0.079	T	0.74934	-0.3495	10	0.25751	T	0.34	-10.7481	10.4907	0.44750	0.0:0.9073:0.0:0.0927	.	538;538;538	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	R	538	ENSP00000262518:S538R;ENSP00000378499:S538R;ENSP00000343042:S538R	ENSP00000262518:S538R	S	+	3	2	SRCAP	30630778	0.997000	0.39634	1.000000	0.80357	0.863000	0.49368	0.795000	0.26972	1.355000	0.45865	0.563000	0.77884	AGC		TCGA-2J-AAB8-01A-12D-A40W-08	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	1	0	1	33	275	0	42	0	3.015895e-01	1	9	0	42	2		0	0	0	0	0	2	1	1.000000	33	274	0	42	2								-12.847140	1	1	0	0		1	1	2	3	2.093897	0	0.270000	1.810000	0.278763	0.810000	5.700000e-01	1.000000	1.000000	0.823192	0.810000	0	6.800000e-01	0.990000
MARVELD3	91862	broad.mit.edu	37	16	71674725	71674725	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:71674725G>A	ENST00000299952.4	+	3	1071	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3			17		Ovarian(137;0.125)			CTCTATGCCCGCAAGGGTCTC	0.587000																								0							SO:0001583	missense			ENST00000299952.4	0	1	hg19	CCDS32478.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120380	0.94385	.	.	ENSG00000140832	ENST00000299952	D	0.86865	-2.18	5.79	5.79	0.91817	.	0.096682	0.64402	D	0.000001	D	0.93288	0.7861	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.93287	0.6665	9	0.59425	D	0.04	-23.7209	17.535	0.87827	0.0:0.0:1.0:0.0	.	343	Q96A59-2	.	H	343	ENSP00000299952:R343H	ENSP00000299952:R343H	R	+	2	0	MARVELD3	70232226	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.861000	0.75478	2.739000	0.93911	0.655000	0.94253	CGC		TCGA-2J-AAB8-01A-12D-A40W-08	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	0	0	0	5	265	0	60	0	5.788246e-02	0	17	0	60	2		0	0	0	0	0	2	1	0.936269	5	262	0	60	2								-2.838471	1	1	121412	1	26	1	1	2	3	2.099584	0	0.270000	1.810000	0.279724	0.150000	5.000000e-02	1.000000	0.140000	0.231663	0.150000	0	9.000000e-02	0.260000
RPA1	6117	broad.mit.edu	37	17	1792037	1792037	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:1792037C>T	ENST00000254719.5	+	14	1553	c.1443C>T	c.(1441-1443)tgC>tgT	p.C481C		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa			10					ACCAAGCCTGCCCGACTCAGG	0.483000								Nucleotide excision repair (NER)																0							SO:0001819	synonymous_variant			ENST00000254719.5	0	1	hg19	CCDS11014.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	0	0	0	5	328	0	71	0	2.465291e-01	0	53	0	71	2		0	0	0	0	0	2	1	0.936504	5	325	0	68	2								-3.002491	1	1	0	0		1	0	1	1	1.819173	1	0.270000	1.810000	0.156069	0.100000	3.000000e-02	0.210000	0.100000	0.112894	0.100000	0	6.000000e-02	0.160000
IGFBP4	3487	broad.mit.edu	37	17	38609333	38609333	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:38609333G>A	ENST00000269593.4	+	2	721	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	IGFBP4_ENST00000542955.1_Missense_Mutation_p.R49Q	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4			5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)		ATTCGAGACCGGAGCACCAGT	0.602000													GBM(160;940 3581 26177)											0							SO:0001583	missense			ENST00000269593.4	0	1	hg19	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632840	0.47049	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.26223	1.75;2.1	5.92	4.88	0.63580	Thyroglobulin type-1 (1);	0.660269	0.15633	N	0.252297	T	0.18383	0.0441	N	0.19112	0.55	0.33413	D	0.578843	B	0.24043	0.096	B	0.09377	0.004	T	0.09840	-1.0656	10	0.35671	T	0.21	-4.9399	15.905	0.79419	0.0:0.0:0.8563:0.1437	.	149	P22692	IBP4_HUMAN	Q	49;149	ENSP00000437734:R49Q;ENSP00000269593:R149Q	ENSP00000269593:R149Q	R	+	2	0	IGFBP4	35862859	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.924000	0.48876	2.818000	0.97014	0.655000	0.94253	CGG		TCGA-2J-AAB8-01A-12D-A40W-08	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	0	0	0	4	199	0	29	0	9.978706e-01	0	750	0	29	2		0	0	0	0	0	2	1	0.888876	4	197	0	28	2								-3.587982	1	1	0	0		1	0	1	1	2.046865	0	0.270000	1.810000	0.268024	0.160000	5.000000e-02	0.340000	0.140000	0.177768	0.160000	0	9.000000e-02	0.250000
MAPT	4137	broad.mit.edu	37	17	44060812	44060812	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:44060812C>T	ENST00000571987.1	+	5	642	c.642C>T	c.(640-642)agC>agT	p.S214S	MAPT_ENST00000431008.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Silent_p.S214S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Silent_p.S214S|MAPT_ENST00000415613.2_Silent_p.S214S			P10636	TAU_HUMAN	microtubule-associated protein tau			38		Melanoma(429;0.216)		Docetaxel(DB01248)|Paclitaxel(DB01229)	GGCCGGGGAGCAAGGAGGAGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000571987.1	1	1	hg19	CCDS11501.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	0	0	0	6	77	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	0.959792	6	72	0	23	2								-10.833970	1	1	0	0		1	0	1	1	2.046865	0	0.270000	1.810000	0.268024	0.550000	2.300000e-01	1.000000	1.000000	0.583700	0.550000	0	3.700000e-01	0.790000
PITPNM3	83394	broad.mit.edu	37	17	6428759	6428759	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:6428759G>A	ENST00000262483.8	-	3	230	c.143C>T	c.(142-144)gCc>gTc	p.A48V	PITPNM3_ENST00000421306.3_Intron	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3			36					AATGAGGATGGCATTCTTCCC	0.542000																								0							SO:0001583	missense			ENST00000262483.8	0	1	hg19	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	9.783	1.175926	0.21704	.	.	ENSG00000091622	ENST00000262483	T	0.19806	2.12	4.67	4.67	0.58626	.	0.121347	0.53938	D	0.000043	T	0.32133	0.0819	L	0.34521	1.04	0.41624	D	0.988988	D	0.89917	1.0	D	0.83275	0.996	T	0.02371	-1.1169	10	0.10636	T	0.68	.	15.866	0.79067	0.0:0.0:1.0:0.0	.	48	Q9BZ71	PITM3_HUMAN	V	48	ENSP00000262483:A48V	ENSP00000262483:A48V	A	-	2	0	PITPNM3	6369483	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.935000	0.87658	2.538000	0.85594	0.460000	0.39030	GCC		TCGA-2J-AAB8-01A-12D-A40W-08	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	0	0	0	6	383	0	114	0	1.079356e-03	0	3	0	114	2		0	0	0	0	0	2	1	0.963841	6	378	0	112	2								-2.614401	1	1	0	0		1	0	1	1	1.819173	1	0.270000	1.810000	0.156069	0.100000	4.000000e-02	0.200000	0.100000	0.113112	0.100000	0	6.000000e-02	0.150000
DLG4	1742	broad.mit.edu	37	17	7099798	7099798	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7099798G>C	ENST00000399506.2	-	10	1371	c.1180C>G	c.(1180-1182)Cca>Gca	p.P394A	DLG4_ENST00000399510.2_Missense_Mutation_p.P437A|DLG4_ENST00000302955.6_Missense_Mutation_p.P391A			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)			18				Guanidine(DB00536)	GTACCTTCTGGTTTATACTGA	0.547000																								0							SO:0001583	missense			ENST00000399506.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.12	3.552948	0.65425	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.53857	0.6;0.6;0.6	4.28	4.28	0.50868	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.69708	0.3141	M	0.72353	2.195	0.80722	D	1	D;D;P;P	0.76494	0.999;0.999;0.77;0.914	D;D;P;P	0.71656	0.953;0.974;0.632;0.698	T	0.74375	-0.3686	9	0.87932	D	0	.	14.277	0.66187	0.0:0.0:1.0:0.0	.	434;394;391;437	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	A	394;391;437;437;334;437	ENSP00000382425:P394A;ENSP00000307471:P391A;ENSP00000382428:P437A	ENSP00000293813:P437A	P	-	1	0	DLG4	7040522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.219000	0.78000	2.210000	0.71456	0.563000	0.77884	CCA		TCGA-2J-AAB8-01A-12D-A40W-08	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	1	0	1	38	195	0	64	0	5.619105e-01	1	10	0	64	2		0	0	0	0	0	2	1	1.000000	37	194	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.819173	1	0.270000	1.810000	0.156069	0.910000	7.100000e-01	1.000000	0.990000	0.900550	0.910000	1	8.100000e-01	0.980000
ACOX1	51	broad.mit.edu	37	17	73947567	73947567	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:73947567C>T	ENST00000301608.4	-	8	1096	c.1036G>A	c.(1036-1038)Gca>Aca	p.A346T	ACOX1_ENST00000537812.1_Missense_Mutation_p.A308T|ACOX1_ENST00000293217.5_Missense_Mutation_p.A346T	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl			14				Flavin adenine dinucleotide(DB03147)	TTCATGTATGCGCCCACAAAC	0.488000																								0							SO:0001583	missense			ENST00000301608.4	0	1	hg19	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	8.782	0.928597	0.18131	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.69806	-0.43;-0.43;-0.43	5.72	2.1	0.27182	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.481838	0.25035	N	0.033647	T	0.42517	0.1206	N	0.16743	0.435	0.09310	N	1	B;B;B;B	0.23735	0.09;0.09;0.005;0.016	B;B;B;B	0.25987	0.065;0.065;0.007;0.01	T	0.20605	-1.0270	10	0.13853	T	0.58	-0.7919	4.8255	0.13414	0.1402:0.581:0.0:0.2789	.	278;308;346;346	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	T	346;346;308;346;278	ENSP00000301608:A346T;ENSP00000293217:A346T;ENSP00000441257:A308T	ENSP00000293217:A346T	A	-	1	0	ACOX1	71459162	0.180000	0.23148	0.027000	0.17364	0.863000	0.49368	1.554000	0.36266	0.137000	0.18759	0.462000	0.41574	GCA		TCGA-2J-AAB8-01A-12D-A40W-08	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1	0	0	0	5	471	0	84	0	2.117014e-02	0	17	0	84	2		0	0	0	0	0	2	1	0.936101	5	466	0	84	2								-1.855854	0	1	121412	3	41	1	0	1	1	1.821458	1	0.270000	1.810000	0.156069	0.060000	2.000000e-02	0.150000	0.070000	0.079508	0.060000	0	4.000000e-02	0.110000
EVPL	2125	broad.mit.edu	37	17	74014618	74014618	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:74014618C>T	ENST00000301607.3	-	12	1601	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	EVPL_ENST00000586740.1_Missense_Mutation_p.V450M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin			54					GGGCCCTGCACGACCCAGGCG	0.662000																								0							SO:0001583	missense			ENST00000301607.3	0	1	hg19	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892323	0.72524	.	.	ENSG00000167880	ENST00000301607	T	0.72167	-0.63	5.12	5.12	0.69794	.	0.138638	0.48286	D	0.000181	D	0.84415	0.5467	M	0.78637	2.42	0.49213	D	0.999762	D;D	0.89917	1.0;1.0	D;D	0.69142	0.96;0.962	D	0.86389	0.1734	10	0.87932	D	0	-42.0999	18.9474	0.92627	0.0:1.0:0.0:0.0	.	450;450	B7ZLH8;Q92817	.;EVPL_HUMAN	M	450	ENSP00000301607:V450M	ENSP00000301607:V450M	V	-	1	0	EVPL	71526213	0.998000	0.40836	0.798000	0.32154	0.603000	0.37013	4.206000	0.58473	2.573000	0.86826	0.561000	0.74099	GTG		TCGA-2J-AAB8-01A-12D-A40W-08	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1	13	69	0	11	1	3.922743e-01	7	1	0	11	2		0	0	0	0	0	2	1	0.999518	13	64	0	11	2								-19.998860	1	1	121316	26	41	1	0	1	1	1.821458	1	0.270000	1.810000	0.156069	0.830000	5.200000e-01	0.990000	0.960000	0.821129	0.830000	0	6.800000e-01	0.950000
TP53	7157	broad.mit.edu	37	17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7578433G>T	ENST00000269305.4	-	5	686	c.497C>A	c.(496-498)tCa>tAa	p.S166*	TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000420246.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*	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.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CATGTGCTGTGACTGCTTGTA	0.632000		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	56	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - Missense(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(1)						SO:0001587	stop_gained	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	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721457	0.48728	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	4.63	0.57726	.	0.284727	0.34002	N	0.004360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3004	12.6801	0.56916	0.0803:0.0:0.9197:0.0	.	.	.	.	X	166;166;166;166;166;166;155;73;34;73;34	.	ENSP00000269305:S166X	S	-	2	0	TP53	7519158	0.909000	0.30893	0.776000	0.31678	0.112000	0.19704	4.756000	0.62205	1.513000	0.48852	0.655000	0.94253	TCA		TCGA-2J-AAB8-01A-12D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	58	225	0	85	0	9.208186e-01	1	18	0	85	2	1	1	205	937	0	1373	2	1	1.000000	57	223	0	82	2								-20.000000	1	1	0	0		1	0	1	1	1.819173	1	0.270000	1.810000	0.156069	0.960000	8.400000e-01	1.000000	0.990000	0.957667	0.960000	1	9.100000e-01	1.000000
DNAH2	146754	broad.mit.edu	37	17	7696378	7696378	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7696378G>A	ENST00000572933.1	+	48	8884	c.7424G>A	c.(7423-7425)gGc>gAc	p.G2475D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G2475D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	p.G2475D(1)		189		all_cancers(10;4.66e-07)|Prostate(122;0.081)			CCATTCGGGGGCAAAAGCATG	0.512000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000572933.1	0	1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608500	0.87258	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.64260	-0.09	4.39	4.39	0.52855	ATPase, AAA+ type, core (1);	0.127184	0.52532	D	0.000078	D	0.85071	0.5613	H	0.96430	3.82	0.80722	D	1	D	0.63880	0.993	D	0.73708	0.981	D	0.90106	0.4188	10	0.72032	D	0.01	.	15.9412	0.79756	0.0:0.0:1.0:0.0	.	2475	Q9P225	DYH2_HUMAN	D	2475	ENSP00000373825:G2475D	ENSP00000353818:G2475D	G	+	2	0	DNAH2	7637103	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.091000	0.94151	2.295000	0.77249	0.632000	0.83419	GGC		TCGA-2J-AAB8-01A-12D-A40W-08	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	0	0	7	399	1	82	0	0	0	1	1	82	2		0	0	0	0	0	2	0	0.028789	7	397	1	80	17								-2.394499	0	1	121412	1	30	1	0	1	1	1.819173	1	0.270000	1.810000	0.156069	0.110000	4.000000e-02	0.210000	0.110000	0.123959	0.110000	0	7.000000e-02	0.160000
SMAD4	4089	broad.mit.edu	37	18	48584787	48584787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:48584787C>T	ENST00000342988.3	+	7	1403	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q289*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)|p.Q289*(1)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			CGGCCATCTTCAGCACCACCC	0.463000																								39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000342988.3	0	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	41	8.836430	0.98972	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000341551:Q289X	Q	+	1	0	SMAD4	46838785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.603000	0.82811	2.941000	0.99782	0.655000	0.94253	CAG		TCGA-2J-AAB8-01A-12D-A40W-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0	22	371	0	107	0	1.136932e-01	0	10	0	107	2	1	1	41	829	0	1025	2	1	0.999998	22	351	0	103	2								-5.631406	1	1	0	0		1	0	0	0	1.664015	1	0.270000	1.810000	0.096870	0.330000	2.100000e-01	0.470000	0.330000	0.340057	0.330000	0	2.600000e-01	0.410000
ZNF407	55628	broad.mit.edu	37	18	72347372	72347372	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:72347372C>T	ENST00000299687.5	+	1	4397	c.4397C>T	c.(4396-4398)gCc>gTc	p.A1466V	ZNF407_ENST00000309902.6_Missense_Mutation_p.A1466V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A1466V|ZNF407_ENST00000577538.1_Missense_Mutation_p.A1466V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407			67		Esophageal squamous(42;0.131)|Prostate(75;0.173)			CTGGCTAGTGCCGGCCACATG	0.498000																								0							SO:0001583	missense			ENST00000299687.5	0	1	hg19	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639450	0.87760	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.11495	2.77;3.22	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.067772	0.56097	D	0.000026	T	0.14056	0.0340	N	0.04880	-0.145	0.39317	D	0.965188	D;D;D	0.67145	0.995;0.995;0.996	D;D;D	0.66602	0.909;0.909;0.945	T	0.18808	-1.0325	10	0.44086	T	0.13	.	12.8789	0.58006	0.0:0.9256:0.0:0.0744	.	1466;1466;1466	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	V	1466	ENSP00000299687:A1466V;ENSP00000310359:A1466V	ENSP00000299687:A1466V	A	+	2	0	ZNF407	70476360	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	4.654000	0.61469	0.041000	0.15688	-0.482000	0.04802	GCC		TCGA-2J-AAB8-01A-12D-A40W-08	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	1	0	0	4	78	0	17	0	2.256845e-02	0	4	0	17	2		0	0	0	0	0	2	1	0.889214	4	77	0	17	2								-7.451235	1	1	120846	1	30	1	0	0	0	1.664015	1	0.270000	1.810000	0.096870	0.280000	1.000000e-01	0.530000	0.270000	0.303841	0.280000	0	1.700000e-01	0.420000
EPOR	2057	broad.mit.edu	37	19	11492697	11492697	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:11492697G>A	ENST00000222139.6	-	3	440	c.336C>T	c.(334-336)gcC>gcT	p.A112A	EPOR_ENST00000592375.2_Silent_p.A112A	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor			5				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	TCGACGTGTCGGCTGTAGGCA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000222139.6	1	1	hg19	CCDS12260.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1	1	0	1	35	233	0	38	0	0	1	0	0	38	2		0	0	0	0	0	2	1	1.000000	35	232	0	37	2								-15.897840	1	1	0	0		1	1	2	3	2.088449	0	0.270000	1.810000	0.277800	0.990000	7.000000e-01	1.000000	1.000000	0.937271	0.990000	1	8.300000e-01	1.000000
JUNB	3726	broad.mit.edu	37	19	12902601	12902601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:12902601G>T	ENST00000302754.4	+	1	292	c.16G>T	c.(16-18)Gaa>Taa	p.E6*		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene			6					CACTAAAATGGAACAGCCCTT	0.662000																								0							SO:0001587	stop_gained			ENST00000302754.4	0	1	hg19	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	G	39	7.821621	0.98507	.	.	ENSG00000171223	ENST00000302754	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.2411	17.7449	0.88418	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000303315:E6X	E	+	1	0	JUNB	12763601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.484000	0.83849	0.561000	0.74099	GAA		TCGA-2J-AAB8-01A-12D-A40W-08	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	0	0	0	5	96	0	25	1	9.984014e-01	42	245	0	25	2		0	0	0	0	0	2	1	0.932357	5	92	0	24	2								-8.488070	1	1	0	0		1	1	2	3	2.088449	0	0.270000	1.810000	0.277800	0.410000	1.500000e-01	1.000000	0.360000	0.461756	0.410000	0	2.600000e-01	0.650000
NWD1	284434	broad.mit.edu	37	19	16910925	16910925	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:16910925C>T	ENST00000552788.1	+	15	3688	c.3688C>T	c.(3688-3690)Ccc>Tcc	p.P1230S	NWD1_ENST00000379808.3_Missense_Mutation_p.P1230S|NWD1_ENST00000524140.2_Missense_Mutation_p.P1230S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1095S|NWD1_ENST00000523826.1_Missense_Mutation_p.P1024S|CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000549814.1_Missense_Mutation_p.P1188S			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1			67					CGTCTACTTCCCCAAAATTGG	0.512000																								0							SO:0001583	missense			ENST00000552788.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.3	3.959887	0.74016	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70045	0.55;-0.45;0.55;2.27;1.74;2.27	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.156902	0.43579	D	0.000556	T	0.68091	0.2963	N	0.12569	0.235	0.37668	D	0.923031	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.994	T	0.71836	-0.4472	10	0.33141	T	0.24	-35.9247	16.6115	0.84884	0.0:1.0:0.0:0.0	.	1230;1230;1095	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	S	1095;1230;1188;1230;1024;1230;1095	ENSP00000428579:P1230S;ENSP00000447548:P1188S;ENSP00000369136:P1230S;ENSP00000428955:P1024S;ENSP00000447224:P1230S;ENSP00000340159:P1095S	ENSP00000340159:P1095S	P	+	1	0	NWD1	16771925	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.938000	0.48987	2.520000	0.84964	0.650000	0.86243	CCC		TCGA-2J-AAB8-01A-12D-A40W-08	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	1	0	1	80	428	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1.000000	80	423	0	102	2								-2.645510	1	1	0	0		1	1	2	3	2.088449	0	0.270000	1.810000	0.277800	0.990000	9.500000e-01	1.000000	1.000000	0.997426	0.990000	1	9.900000e-01	1.000000
EMR1	2015	broad.mit.edu	37	19	6926610	6926610	+	Silent	SNP	T	T	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:6926610T>C	ENST00000312053.4	+	16	2257	c.2220T>C	c.(2218-2220)aaT>aaC	p.N740N	EMR1_ENST00000381407.5_Silent_p.N599N|EMR1_ENST00000450315.3_Silent_p.N563N|EMR1_ENST00000250572.8_Silent_p.N675N|EMR1_ENST00000381404.4_Silent_p.N688N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1			62	all_hematologic(4;0.166)				GAATGCATAATCGGTGAGTGA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000312053.4	0	1	hg19	CCDS12175.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1	0	0	0	7	376	1	70		0	0	0	1	70	2		0	0	0	0	0	2	0	0.017816	7	370	1	69	18								-7.385072	1	1	0	0		1	1	2	3	2.088449	0	0.270000	1.810000	0.277800	0.140000	6.000000e-02	1.000000	0.130000	0.208924	0.140000	0	9.000000e-02	0.230000
PTCHD2	57540	broad.mit.edu	37	1	11561268	11561268	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:11561268T>G	ENST00000294484.6	+	2	357	c.219T>G	c.(217-219)tgT>tgG	p.C73W	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C73W	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2			76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)			ATCCGTGCTGTGCTGGGCTGG	0.627000																								0							SO:0001583	missense			ENST00000294484.6	1	1	hg19	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.335812	0.60853	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.26223	1.75;1.75	5.91	-8.89	0.00785	.	0.141145	0.47455	U	0.000239	T	0.26122	0.0637	N	0.24115	0.695	0.50039	D	0.999844	D	0.63880	0.993	P	0.55923	0.787	T	0.53865	-0.8378	10	0.87932	D	0	-15.4806	20.8583	0.99727	0.0:0.6554:0.0:0.3446	.	73	Q9P2K9	PTHD2_HUMAN	W	73	ENSP00000294484:C73W;ENSP00000374226:C73W	ENSP00000294484:C73W	C	+	3	2	PTCHD2	11483855	0.014000	0.17966	0.389000	0.26208	0.982000	0.71751	-1.193000	0.03049	-1.737000	0.01350	-0.250000	0.11733	TGT		TCGA-2J-AAB8-01A-12D-A40W-08	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	0	0	0	10	293	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	0.996800	10	289	0	47	2								-11.089900	1	1	0	0		1	0	1	1	1.921568	0	0.270000	1.810000	0.203318	0.220000	1.100000e-01	0.390000	0.220000	0.241637	0.220000	0	1.600000e-01	0.310000
PIAS3	10401	broad.mit.edu	37	1	145578668	145578668	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:145578668G>A	ENST00000393045.2	+	3	564	c.474G>A	c.(472-474)gcG>gcA	p.A158A	PIAS3_ENST00000369298.1_Silent_p.A123A|PIAS3_ENST00000369299.3_Silent_p.A149A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3			28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				TTGAGGAAGCGCACTTTACCT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000393045.2	1	1	hg19	CCDS920.2																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	0	0	0	44	724	0	157	1	5.433264e-01	2	29	0	157	2		0	0	0	0	0	2	1	1.000000	44	717	0	155	2								-6.947408	1	1	121412	30	50	1	2	2	4	2.399819	1	0.270000	1.810000	0.380411	0.520000	3.700000e-01	1.000000	0.500000	0.615345	0.520000	0	4.400000e-01	1.000000
F5	2153	broad.mit.edu	37	1	169529961	169529961	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169529961G>A	ENST00000367797.3	-	4	618	c.417C>T	c.(415-417)gaC>gaT	p.D139D	F5_ENST00000367796.3_Silent_p.D139D|F5_ENST00000546081.1_Silent_p.D2D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)			128	all_hematologic(923;0.208)			ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCACAGCGTCGTCCATCTTCT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000367797.3	1	1	hg19	CCDS1281.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	0	0	16	475	0	63	0	3.672915e-03	0	3	0	63	2		0	0	0	0	0	2	1	0.999928	16	469	0	62	2								-3.313834	1	1	121412	3	37	1	1	3	4	2.399507	1	0.270000	1.810000	0.367363	0.310000	1.700000e-01	1.000000	0.280000	0.461486	0.310000	0	2.300000e-01	1.000000
SELL	6402	broad.mit.edu	37	1	169677858	169677858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169677858G>A	ENST00000236147.4	-	3	371	c.211C>T	c.(211-213)Cga>Tga	p.R71*	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L			15	all_hematologic(923;0.208)				TAATTGTCTCGGCAGAATCTT	0.433000																								0							SO:0001587	stop_gained			ENST00000236147.4	0	1	hg19	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223393	0.58668	.	.	ENSG00000188404	ENST00000236147	.	.	.	5.2	2.14	0.27477	.	1.276940	0.05720	N	0.597599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-1.1421	13.8848	0.63702	0.0:0.0:0.312:0.688	.	.	.	.	X	71	.	ENSP00000236147:R71X	R	-	1	2	SELL	167944482	0.205000	0.23458	0.276000	0.24689	0.016000	0.09150	0.447000	0.21710	0.150000	0.19136	0.585000	0.79938	CGA		TCGA-2J-AAB8-01A-12D-A40W-08	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	1	0	0	7	84	0	18	0	2.297439e-02	0	3	0	18	2		0	0	0	0	0	2	1	0.980502	7	82	0	18	2								-5.150747	1	1	0	0		1	1	3	4	2.399507	1	0.270000	1.810000	0.367363	0.790000	3.300000e-01	1.000000	1.000000	0.772105	0.790000	0	5.100000e-01	1.000000
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:175331865C>T	ENST00000367674.2	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K			Q92752	TENR_HUMAN	tenascin R	p.E930K(2)		177	Renal(580;0.146)				AGGCTGATTTCGTATTCGGTA	0.532000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000367674.2	1	1	hg19	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717377	0.30413	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58210	0.35;0.35	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	L	0.31420	0.93	0.80722	D	1	P	0.44578	0.838	B	0.40534	0.332	T	0.21042	-1.0257	10	0.15066	T	0.55	.	17.3759	0.87391	0.0:1.0:0.0:0.0	.	930	Q92752	TENR_HUMAN	K	930;930;840	ENSP00000356646:E930K;ENSP00000263525:E930K	ENSP00000263525:E930K	E	-	1	0	TNR	173598488	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	6.819000	0.75262	2.625000	0.88918	0.650000	0.86243	GAA		TCGA-2J-AAB8-01A-12D-A40W-08	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1	115	353	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1.000000	115	345	0	86	2								-5.289538	1	1	121412	3	37	1	1	3	4	2.399507	1	0.270000	1.810000	0.367363	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
OBSCN	84033	broad.mit.edu	37	1	228525760	228525760	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:228525760G>A	ENST00000422127.1	+	67	16960	c.16916G>A	c.(16915-16917)cGc>cAc	p.R5639H	OBSCN_ENST00000284548.11_Missense_Mutation_p.R5639H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3273H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6596H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2758H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			CACCCACTGCGCTGGCTTGTC	0.642000																								0							SO:0001583	missense			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159631	0.78226	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	4.35	2.47	0.30058	Src homology-3 domain (2);	0.296783	0.25143	N	0.032814	T	0.19805	0.0476	N	0.19112	0.55	0.31810	N	0.627308	B;B	0.21381	0.033;0.055	B;B	0.16722	0.007;0.016	T	0.11036	-1.0604	10	0.66056	D	0.02	.	4.4143	0.11448	0.4487:0.0:0.5513:0.0	.	5639;5639	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	5639;5639;3273;2758	ENSP00000284548:R5639H;ENSP00000409493:R5639H;ENSP00000355668:R3273H;ENSP00000355670:R2758H	ENSP00000284548:R5639H	R	+	2	0	OBSCN	226592383	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.978000	0.70501	1.202000	0.43218	0.491000	0.48974	CGC		TCGA-2J-AAB8-01A-12D-A40W-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	7	125	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	0.972584	5	113	0	28	2								-10.841010	1	1	121124	1	29	1	1	2	3	2.110234	0	0.270000	1.810000	0.281637	0.440000	1.900000e-01	1.000000	0.390000	0.494725	0.440000	0	2.900000e-01	0.680000
OR2M4	26245	broad.mit.edu	37	1	248402643	248402643	+	Missense_Mutation	SNP	C	C	T	rs144805988		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:248402643C>T	ENST00000306687.1	+	1	413	c.413C>T	c.(412-414)cCg>cTg	p.P138L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	p.P138L(1)		50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)		CTCATGAATCCGAAACTCTGT	0.483000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000306687.1	1	1	hg19	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	c	0.019	-1.462993	0.01062	0.0	2.33E-4	ENSG00000171180	ENST00000306687	T	0.00526	6.8	3.48	-0.649	0.11461	GPCR, rhodopsin-like superfamily (1);	1.195430	0.06309	N	0.702303	T	0.00440	0.0014	L	0.46670	1.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43491	-0.9388	10	0.29301	T	0.29	.	2.7909	0.05388	0.294:0.4613:0.097:0.1477	.	138	Q96R27	OR2M4_HUMAN	L	138	ENSP00000306688:P138L	ENSP00000306688:P138L	P	+	2	0	OR2M4	246469266	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.758000	0.04766	-0.245000	0.09625	-0.414000	0.06135	CCG		TCGA-2J-AAB8-01A-12D-A40W-08	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	1	0	1	74	351	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1.000000	74	349	0	85	2								-2.734202	1	1	121412	23	45	1	1	2	3	2.110234	0	0.270000	1.810000	0.281637	0.990000	9.900000e-01	1.000000	1.000000	0.999730	0.990000	1	9.900000e-01	1.000000
IL23R	149233	broad.mit.edu	37	1	67724439	67724439	+	Silent	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:67724439C>G	ENST00000347310.5	+	11	1689	c.1518C>G	c.(1516-1518)tcC>tcG	p.S506S	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.S251S|IL23R_ENST00000473881.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor			21					AAATTACTTCCTTAACACTTA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000347310.5	1	1	hg19	CCDS637.1	.	.	.	.	.	.	.	.	.	.	C	2.832	-0.242526	0.05906	.	.	ENSG00000162594	ENST00000425614	.	.	.	5.71	1.0	0.19881	.	.	.	.	.	T	0.09158	0.0226	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	-36.091	3.472	0.07570	0.1722:0.4723:0.0:0.3555	.	.	.	.	R	268	.	.	P	+	2	0	IL23R	67497027	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.056000	0.11787	-0.077000	0.12752	0.650000	0.86243	CCT		TCGA-2J-AAB8-01A-12D-A40W-08	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	1	0	0	12	238	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	0.999140	12	236	0	50	2								-2.939154	1	1	0	0		1	0	1	1	1.909717	0	0.270000	1.810000	0.199781	0.320000	1.700000e-01	0.530000	0.320000	0.343033	0.320000	0	2.400000e-01	0.430000
CAMTA1	23261	broad.mit.edu	37	1	7798217	7798217	+	Missense_Mutation	SNP	C	C	T	rs139225365		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:7798217C>T	ENST00000303635.7	+	16	4064	c.3857C>T	c.(3856-3858)aCa>aTa	p.T1286I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1286I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1			85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)			GTCCCCGAGACACTCAGCCCC	0.552000			T	WWTR1	epitheliod hemangioendothelioma										Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0							SO:0001583	missense			ENST00000303635.7	0	1	hg19	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.220885|2.220885	0.39201|0.39201	0.0|0.0	2.33E-4|2.33E-4	ENSG00000171735|ENSG00000171735	ENST00000495233|ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	.|T;T	.|0.21191	.|2.03;2.02	5.06|5.06	4.13|4.13	0.48395|0.48395	.|.	.|0.382752	.|0.30732	.|N	.|0.008991	T|T	0.16854|0.16854	0.0405|0.0405	L|L	0.36672|0.36672	1.1|1.1	0.33546|0.33546	D|D	0.595455|0.595455	.|B;B;B;B	.|0.31599	.|0.33;0.112;0.138;0.183	.|B;B;B;B	.|0.23716	.|0.048;0.01;0.013;0.016	T|T	0.14783|0.14783	-1.0460|-1.0460	5|10	.|0.34782	.|T	.|0.22	-0.2018|-0.2018	15.0419|15.0419	0.71796|0.71796	0.1432:0.8568:0.0:0.0|0.1432:0.8568:0.0:0.0	.|.	.|1286;373;242;1286	.|Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.|.;.;.;CMTA1_HUMAN	Y|I	243|1286;1286;373;242	.|ENSP00000306522:T1286I;ENSP00000402561:T1286I	.|ENSP00000306522:T1286I	H|T	+|+	1|2	0|0	CAMTA1|CAMTA1	7720804|7720804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.644000|3.644000	0.54381|0.54381	1.213000|1.213000	0.43380|0.43380	0.655000|0.655000	0.94253|0.94253	CAC|ACA		TCGA-2J-AAB8-01A-12D-A40W-08	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	0	0	0	5	201	1	46		0	0	0	1	46	2		0	0	0	0	0	2	0	0.015032	6	194	1	45	15								-7.182630	1	1	0	0		1	0	1	1	1.921568	0	0.270000	1.810000	0.203318	0.170000	6.000000e-02	0.350000	0.160000	0.192083	0.170000	0	1.100000e-01	0.260000
ADRA1D	146	broad.mit.edu	37	20	4202204	4202204	+	Missense_Mutation	SNP	G	G	A	rs147522815		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr20:4202204G>A	ENST00000379453.4	-	2	1801	c.1685C>T	c.(1684-1686)gCc>gTc	p.A562V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D			14				Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCTGTAGTCGGCCAATTCGTA	0.667000											OREG0025743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000379453.4	0	1	hg19	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618816	0.46736	.	.	ENSG00000171873	ENST00000379453	T	0.59364	0.27	3.62	-0.0134	0.13984	.	.	.	.	.	T	0.39279	0.1072	L	0.29908	0.895	0.23089	N	0.99832	B	0.27498	0.18	B	0.22601	0.04	T	0.20174	-1.0283	9	0.32370	T	0.25	.	6.836	0.23937	0.0:0.1711:0.5057:0.3231	.	562	P25100	ADA1D_HUMAN	V	562	ENSP00000368766:A562V	ENSP00000368766:A562V	A	-	2	0	ADRA1D	4150204	0.998000	0.40836	0.119000	0.21687	0.634000	0.38068	3.407000	0.52644	0.257000	0.21650	0.305000	0.20034	GCC		TCGA-2J-AAB8-01A-12D-A40W-08	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	0	0	0	5	243	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	0.934777	5	238	0	46	2								-2.737349	1	1	0	0		1	0	1	1	1.964838	0	0.270000	1.810000	0.238115	0.150000	5.000000e-02	0.310000	0.140000	0.168149	0.150000	0	9.000000e-02	0.230000
CRKL	1399	broad.mit.edu	37	22	21288172	21288172	+	Silent	SNP	C	C	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:21288172C>A	ENST00000354336.3	+	2	926	c.417C>A	c.(415-417)gcC>gcA	p.A139A		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like			14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		GGAATGATGCCGAAGACCTGC	0.502000													Pancreas(85;3 1441 23889 42519 42763)											0							SO:0001819	synonymous_variant			ENST00000354336.3	1	1	hg19	CCDS13785.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	0	0	0	26	388	1	81	0	1.351651e-01	1	9	1	81	2		0	0	0	0	0	2	1	1.000000	26	387	0	76	2								-2.716709	1	1	0	0		1	0	0	0	1.834852	1	0.270000	1.810000	0.181614	0.410000	2.700000e-01	0.580000	0.410000	0.424189	0.410000	0	3.400000e-01	0.500000
NUP50	10762	broad.mit.edu	37	22	45580351	45580351	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:45580351G>A	ENST00000347635.4	+	8	1688	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	NUP50_ENST00000407019.2_Missense_Mutation_p.V380I|NUP50_ENST00000396096.2_Missense_Mutation_p.V380I|NUP50_ENST00000425733.2_Missense_Mutation_p.V158I	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa			9		Ovarian(80;0.00965)|all_neural(38;0.0244)			ATTGCTGAACGTTCTGATTCC	0.393000																								0							SO:0001583	missense			ENST00000347635.4	1	1	hg19	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	G	3.527	-0.096540	0.07010	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.61	3.54	0.40534	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.172748	0.51477	N	0.000084	T	0.15435	0.0372	N	0.01473	-0.845	0.35957	D	0.834318	B	0.02656	0.0	B	0.12156	0.007	T	0.09907	-1.0653	10	0.20519	T	0.43	-17.1865	8.726	0.34469	0.2845:0.0:0.7155:0.0	.	408	Q9UKX7	NUP50_HUMAN	I	408;380;158;380	ENSP00000345895:V408I;ENSP00000385555:V380I;ENSP00000406928:V158I;ENSP00000379403:V380I	ENSP00000345895:V408I	V	+	1	0	NUP50	43959015	1.000000	0.71417	0.040000	0.18447	0.925000	0.55904	3.592000	0.53993	0.849000	0.35215	0.655000	0.94253	GTT		TCGA-2J-AAB8-01A-12D-A40W-08	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2	1	0	1	21	244	0	63	1	6.502932e-01	5	22	0	63	2		0	0	0	0	0	2	1	0.999997	21	238	0	63	2								-7.875616	1	1	121412	4	39	1	0	0	0	1.831194	1	0.270000	1.810000	0.179130	0.520000	3.300000e-01	0.740000	0.510000	0.533426	0.520000	0	4.200000e-01	0.640000
FASTKD1	79675	broad.mit.edu	37	2	170428438	170428438	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:170428438G>C	ENST00000453153.2	-	2	448	c.102C>G	c.(100-102)atC>atG	p.I34M	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I34M	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1			37					GTTCACAACTGATGGGTCGAA	0.358000																								0							SO:0001583	missense			ENST00000453153.2	1	1	hg19	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900868	0.17686	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.17854	2.25;2.25	5.07	0.625	0.17665	.	0.967032	0.08552	N	0.928866	T	0.13756	0.0333	L	0.36672	1.1	0.09310	N	1	P;P;P	0.51240	0.906;0.943;0.906	B;P;B	0.46940	0.332;0.532;0.264	T	0.13388	-1.0511	10	0.34782	T	0.22	-16.7467	0.4362	0.00479	0.2023:0.2566:0.2195:0.3215	.	34;34;34	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	M	34	ENSP00000400513:I34M;ENSP00000403229:I34M	ENSP00000396769:I34M	I	-	3	3	FASTKD1	170136684	0.020000	0.18652	0.035000	0.18076	0.637000	0.38172	0.239000	0.18023	-0.051000	0.13334	0.591000	0.81541	ATC		TCGA-2J-AAB8-01A-12D-A40W-08	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	1	0	0	25	293	0	73	0	2.551270e-01	1	11	0	73	2		0	0	0	0	0	2	1	1.000000	25	292	0	72	2								-8.179766	1	1	0	0		1	1	2	3	2.115320	0	0.270000	1.810000	0.282591	0.610000	4.000000e-01	1.000000	0.590000	0.648395	0.610000	0	4.900000e-01	0.790000
COL3A1	1281	broad.mit.edu	37	2	189850473	189850473	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:189850473G>A	ENST00000304636.3	+	4	586	c.416G>A	c.(415-417)gGa>gAa	p.G139E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G139E	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1			126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)	Collagenase(DB00048)	GGCCCCCCTGGAATCTGTGAA	0.448000																								0							SO:0001583	missense			ENST00000304636.3	1	1	hg19	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673160	0.88445	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99353	-5.77;-5.77	4.62	4.62	0.57501	.	0.000000	0.40908	D	0.000991	D	0.99327	0.9764	M	0.73598	2.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99087	1.0839	10	0.72032	D	0.01	.	17.6469	0.88151	0.0:0.0:1.0:0.0	.	139	P02461	CO3A1_HUMAN	E	139	ENSP00000304408:G139E;ENSP00000315243:G139E	ENSP00000304408:G139E	G	+	2	0	COL3A1	189558718	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.104000	0.94239	2.414000	0.81942	0.313000	0.20887	GGA		TCGA-2J-AAB8-01A-12D-A40W-08	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	1	0	0	10	151	0	24	0	1	0	2736	0	24	2		0	0	0	0	0	2	1	0.996981	10	149	0	24	2								-13.646850	1	1	0	0		1	1	2	3	2.115320	0	0.270000	1.810000	0.282591	0.500000	2.500000e-01	1.000000	0.460000	0.552598	0.500000	0	3.600000e-01	0.740000
IKZF2	22807	broad.mit.edu	37	2	213914507	213914507	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:213914507G>C	ENST00000434687.1	-	6	813	c.504C>G	c.(502-504)ttC>ttG	p.F168L	IKZF2_ENST00000342002.2_Missense_Mutation_p.F174L|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.F142L|IKZF2_ENST00000374319.4_Missense_Mutation_p.F142L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F168L|IKZF2_ENST00000451136.2_Missense_Mutation_p.F142L|IKZF2_ENST00000457361.1_Missense_Mutation_p.F168L			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)			23		Esophageal squamous(248;0.0559)|Renal(323;0.218)			AAGGACATTTGAACGGCTTCT	0.493000																								0							SO:0001583	missense			ENST00000434687.1	1	1	hg19	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358031	0.95854	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091	T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;1.98;0.45;1.98;-0.17	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.74329	0.3702	L	0.52823	1.66	0.80722	D	1	D;D;D;D	0.89917	0.99;0.974;1.0;0.994	P;D;D;D	0.79108	0.825;0.969;0.985;0.992	T	0.73984	-0.3810	10	0.54805	T	0.06	-7.0219	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	142;142;142;168	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	L	168;174;168;142;142;142;168	ENSP00000410447:F168L;ENSP00000342876:F174L;ENSP00000412869:F168L;ENSP00000363439:F142L;ENSP00000395203:F142L;ENSP00000399574:F142L;ENSP00000402334:F168L	ENSP00000342876:F174L	F	-	3	2	IKZF2	213622752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.709000	0.61867	2.861000	0.98227	0.655000	0.94253	TTC		TCGA-2J-AAB8-01A-12D-A40W-08	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	0	0	0	12	261	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	0.999096	12	257	0	50	2								-13.555380	1	1	0	0		1	1	2	3	2.115320	0	0.270000	1.810000	0.282591	0.350000	1.800000e-01	1.000000	0.330000	0.420448	0.350000	0	2.500000e-01	0.510000
ADCY3	109	broad.mit.edu	37	2	25051001	25051001	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:25051001G>A	ENST00000260600.5	-	13	3053	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3			44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)				TTGCATTGCTGGGTCCCGTGT	0.602000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000260600.5	1	1	hg19	CCDS1715.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	0	0	0	11	168	1	41	0	6.446518e-02	1	21	1	41	4		0	0	0	0	0	2	1	0.998294	11	164	0	41	2								-3.146440	1	1	0	0		1	0	1	1	1.959722	0	0.270000	1.810000	0.226121	0.430000	2.300000e-01	0.710000	0.430000	0.454430	0.430000	0	3.200000e-01	0.570000
RTN4	57142	broad.mit.edu	37	2	55252908	55252908	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:55252908A>C	ENST00000337526.6	-	3	2570	c.2327T>G	c.(2326-2328)tTt>tGt	p.F776C	RTN4_ENST00000405240.1_Missense_Mutation_p.F570C|RTN4_ENST00000404909.1_Missense_Mutation_p.F570C|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.F544C|RTN4_ENST00000394611.2_Missense_Mutation_p.F570C|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.F570C	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4			36					CATTGACTCAAATGAAGTCTC	0.363000																								0							SO:0001583	missense			ENST00000337526.6	1	1	hg19	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	A	2.415	-0.334465	0.05278	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.45	-0.531	0.11894	.	1.868710	0.02414	N	0.081987	T	0.15132	0.0365	L	0.40543	1.245	0.09310	N	1	P	0.36438	0.553	B	0.34824	0.19	T	0.25710	-1.0124	10	0.59425	D	0.04	0.8146	5.228	0.15406	0.3847:0.0:0.4705:0.1449	.	776	Q9NQC3	RTN4_HUMAN	C	570;570;776;570;570;544	ENSP00000384471:F570C;ENSP00000349944:F570C;ENSP00000337838:F776C;ENSP00000378109:F570C;ENSP00000385650:F570C;ENSP00000346465:F544C	ENSP00000337838:F776C	F	-	2	0	RTN4	55106412	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	-0.187000	0.09656	-0.023000	0.13963	-0.242000	0.12053	TTT		TCGA-2J-AAB8-01A-12D-A40W-08	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1	1	0	1	38	305	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1.000000	37	305	0	80	2								-20.000000	1	1	0	0		1	0	1	1	1.959722	0	0.270000	1.810000	0.226121	0.770000	5.600000e-01	1.000000	1.000000	0.779862	0.770000	0	6.500000e-01	0.890000
ATP2B2	491	broad.mit.edu	37	3	10443850	10443850	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:10443850C>T	ENST00000352432.4	-	3	649	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	ATP2B2_ENST00000397077.1_Missense_Mutation_p.V194M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V194M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V194M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2			74					GCCCGGACCACGGTAAATTTC	0.567000													Ovarian(125;1619 1709 15675 19819 38835)											0							SO:0001583	missense			ENST00000352432.4	1	1	hg19	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076585	0.94000	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.44	5.44	0.79542	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98585	0.9527	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.997	D	0.99643	1.0989	10	0.87932	D	0	-29.579	19.2768	0.94034	0.0:1.0:0.0:0.0	.	194;206;194	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	194;194;194;194;194;160;81;194	ENSP00000324172:V194M;ENSP00000373311:V194M;ENSP00000380267:V194M;ENSP00000353414:V194M;ENSP00000344677:V194M;ENSP00000414854:V81M	ENSP00000342954:V194M	V	-	1	0	ATP2B2	10418850	1.000000	0.71417	0.950000	0.38849	0.951000	0.60555	6.066000	0.71185	2.550000	0.86006	0.467000	0.42956	GTG		TCGA-2J-AAB8-01A-12D-A40W-08	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	1	0	0	51	747	0	173		0	0	0	0	173	2		0	0	0	0	0	2	1	1.000000	51	731	0	168	2								-9.313001	1	1	121412	1	40	1	0	1	1	1.814912	1	0.270000	1.810000	0.157384	0.400000	3.000000e-01	0.520000	0.410000	0.414336	0.400000	0	3.500000e-01	0.470000
WNT7A	7476	broad.mit.edu	37	3	13860914	13860914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:13860914C>A	ENST00000285018.4	-	4	881	c.577G>T	c.(577-579)Gag>Tag	p.E193*		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A			24					ATGTTCTCCTCCAGGATCTGC	0.657000																								0							SO:0001587	stop_gained			ENST00000285018.4	0	1	hg19	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	37	6.310859	0.97462	.	.	ENSG00000154764	ENST00000285018	.	.	.	4.29	4.29	0.51040	.	0.170785	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1402	0.86750	0.0:1.0:0.0:0.0	.	.	.	.	X	193	.	ENSP00000285018:E193X	E	-	1	0	WNT7A	13835915	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.810000	0.86072	2.121000	0.65114	0.558000	0.71614	GAG		TCGA-2J-AAB8-01A-12D-A40W-08	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	0	0	0	5	354	0	78	0	1.286831e-02	0	10	0	78	2		0	0	0	0	0	2	0	0.011242	5	350	1	76	16								-2.437979	0	1	0	0		1	0	1	1	1.814912	1	0.270000	1.810000	0.157384	0.090000	3.000000e-02	0.190000	0.090000	0.105073	0.090000	0	5.000000e-02	0.140000
MST1R	4486	broad.mit.edu	37	3	49936064	49936064	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:49936064A>G	ENST00000296474.3	-	4	1633	c.1606T>C	c.(1606-1608)Tgc>Cgc	p.C536R	MST1R_ENST00000344206.4_Missense_Mutation_p.C536R|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)			37					GCCCTTAGGCAACGCCCACAG	0.612000																								0							SO:0001583	missense			ENST00000296474.3	1	1	hg19	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221236	0.79464	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.77489	-1.1;-1.1	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.90563	0.7042	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.998	D	0.92564	0.6060	10	0.87932	D	0	-23.5053	16.2118	0.82165	1.0:0.0:0.0:0.0	.	430;536;536;536	Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;RON_HUMAN	R	536	ENSP00000296474:C536R;ENSP00000341325:C536R	ENSP00000296474:C536R	C	-	1	0	MST1R	49911068	1.000000	0.71417	0.967000	0.41034	0.799000	0.45148	8.290000	0.89925	2.234000	0.73211	0.402000	0.26972	TGC		TCGA-2J-AAB8-01A-12D-A40W-08	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	1	0	1	48	258	0	48	1	8.404697e-01	19	1	0	48	2		0	0	0	0	0	2	1	1.000000	48	254	0	47	2								-20.000000	1	1	0	0		1	0	1	1	1.814912	1	0.270000	1.810000	0.157384	0.910000	7.200000e-01	1.000000	1.000000	0.907571	0.910000	1	8.200000e-01	0.980000
STOX2	56977	broad.mit.edu	37	4	184931519	184931519	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184931519G>A	ENST00000308497.4	+	3	2963	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	STOX2_ENST00000438269.1_Missense_Mutation_p.E510K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2			14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)			AGGGACGCCGGAAGACCTTGC	0.547000																								0							SO:0001583	missense			ENST00000308497.4	1	1	hg19	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971202	0.53614	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.80738	-0.41;-1.41	5.65	5.65	0.86999	.	0.048167	0.85682	D	0.000000	T	0.76011	0.3928	L	0.29908	0.895	0.80722	D	1	B;B	0.32245	0.361;0.083	B;B	0.34652	0.187;0.057	T	0.75717	-0.3220	10	0.72032	D	0.01	-13.8256	19.9142	0.97043	0.0:0.0:1.0:0.0	.	510;510	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	K	510	ENSP00000311257:E510K;ENSP00000390127:E510K	ENSP00000311257:E510K	E	+	1	0	STOX2	185168513	1.000000	0.71417	0.970000	0.41538	0.426000	0.31534	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	GAA		TCGA-2J-AAB8-01A-12D-A40W-08	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	1	12	58	0	19	0	0	1	0	0	19	2		0	0	0	0	0	2	1	0.999347	12	57	0	19	2								-19.996730	1	1	0	0		1	0	1	1	1.723680	1	0.270000	1.810000	0.161305	0.870000	5.500000e-01	1.000000	1.000000	0.855700	0.870000	1	7.100000e-01	0.990000
STOX2	56977	broad.mit.edu	37	4	184932370	184932370	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184932370G>A	ENST00000308497.4	+	3	3814	c.2379G>A	c.(2377-2379)gaG>gaA	p.E793E	STOX2_ENST00000438269.1_Silent_p.E793E	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2			14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)			CAGAGGAGGAGAAAAATAGAG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000308497.4	0	1	hg19	CCDS47167.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	0	6	58	0	9	0	0	1	0	0	9	2		0	0	0	0	0	2	1	0.960272	6	54	0	9	2								-11.502260	1	1	0	0		1	0	1	1	1.723680	1	0.270000	1.810000	0.161305	0.590000	2.500000e-01	0.960000	0.560000	0.606028	0.590000	0	4.000000e-01	0.810000
LIN54	132660	broad.mit.edu	37	4	83891489	83891489	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:83891489C>T	ENST00000340417.3	-	4	1319	c.942G>A	c.(940-942)tcG>tcA	p.S314S	LIN54_ENST00000395283.2_Intron|LIN54_ENST00000442461.2_Silent_p.S93S|LIN54_ENST00000505397.1_Silent_p.S314S|LIN54_ENST00000446851.2_Silent_p.S93S|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000510557.1_Silent_p.S93S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component			14		Hepatocellular(203;0.114)			CCTTATTTGGCGATTTCAAAG	0.308000																								0							SO:0001819	synonymous_variant			ENST00000340417.3	0	1	hg19	CCDS3599.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	0	0	0	5	469	0	75	0	5.487472e-04	0	3	0	75	2		0	0	0	0	0	2	1	0.935737	5	463	0	74	2								-2.196348	0	1	121410	1	32	1	0	0	0	1.945538	0	0.270000	1.810000	0.228330	0.070000	2.000000e-02	0.160000	0.080000	0.087703	0.070000	0	4.000000e-02	0.120000
SPARCL1	8404	broad.mit.edu	37	4	88412840	88412840	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:88412840G>A	ENST00000282470.6	-	5	1691	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	SPARCL1_ENST00000503414.1_Silent_p.A282A|SPARCL1_ENST00000418378.1_Silent_p.A407A	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)			21					CTGCTTTCTTGGCCTTTAGAA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000282470.6	1	1	hg19	CCDS3622.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2	1	0	1	35	240	0	46	0	1	0	225	0	46	2		0	0	0	0	0	2	1	1.000000	35	240	0	45	2								-3.319203	1	1	0	0		1	0	0	0	1.945538	0	0.270000	1.810000	0.228330	0.880000	6.300000e-01	1.000000	1.000000	0.879089	0.880000	1	7.500000e-01	1.000000
MEGF10	84466	broad.mit.edu	37	5	126771182	126771182	+	Splice_Site	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:126771182G>A	ENST00000274473.6	+	17	2371		c.e17+1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	p.?(1)		68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		TGCTCTCAACGTAAGTCTTGT	0.373000																								1	Unknown(1)						SO:0001630	splice_region_variant			ENST00000274473.6	1	1	hg19	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881482	0.91740	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF10	126799081	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.776000	0.99001	2.767000	0.95098	0.563000	0.77884	.		TCGA-2J-AAB8-01A-12D-A40W-08	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	1	0	1	20	187	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	0.999996	20	186	0	56	2								-3.221900	1	1	0	0		1	0	1	1	1.993259	0	0.270000	1.810000	0.235962	0.680000	4.300000e-01	0.980000	1.000000	0.698168	0.680000	0	5.500000e-01	0.840000
PCDHB7	56129	broad.mit.edu	37	5	140554386	140554386	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:140554386C>T	ENST00000231137.3	+	1	2144	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	p.T657M(1)		119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GCCACCGCCACGCTGCACGTG	0.706000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000231137.3	0	1	hg19	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667450	0.47677	.	.	ENSG00000113212	ENST00000231137	T	0.55588	0.51	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62792	0.2457	M	0.80332	2.49	0.21967	N	0.999445	D	0.54397	0.966	P	0.49953	0.627	T	0.58244	-0.7670	9	0.66056	D	0.02	.	10.9109	0.47108	0.0:0.9049:0.0:0.0951	.	657	Q9Y5E2	PCDB7_HUMAN	M	657	ENSP00000231137:T657M	ENSP00000231137:T657M	T	+	2	0	PCDHB7	140534570	0.004000	0.15560	0.993000	0.49108	0.665000	0.39181	1.710000	0.37920	1.922000	0.55676	0.449000	0.29647	ACG		TCGA-2J-AAB8-01A-12D-A40W-08	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	0	0	0	13	654	0	125	0	0	0	1	0	125	2		0	0	0	0	1	2	1	0.998594	10	549	0	141	2								-3.346692	1	1	120648	1	32	1	0	1	1	1.993259	0	0.270000	1.810000	0.235962	0.130000	7.000000e-02	0.230000	0.140000	0.147391	0.130000	0	1.000000e-01	0.180000
THBS4	7060	broad.mit.edu	37	5	79366517	79366517	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:79366517G>A	ENST00000350881.2	+	12	1694	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G411S	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4			34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)			AGACAGAGATGGCATTGGCGA	0.517000																								0							SO:0001583	missense			ENST00000350881.2	1	1	hg19	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721678	0.68959	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98914	-4.89;-5.23	5.17	5.17	0.71159	.	0.049134	0.85682	D	0.000000	D	0.98302	0.9437	M	0.93106	3.38	0.80722	D	1	P	0.46621	0.881	B	0.41619	0.361	D	0.98048	1.0386	10	0.51188	T	0.08	-36.174	12.2251	0.54455	0.0773:0.0:0.9227:0.0	.	502	P35443	TSP4_HUMAN	S	502;411	ENSP00000339730:G502S;ENSP00000422298:G411S	ENSP00000339730:G502S	G	+	1	0	THBS4	79402273	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	6.549000	0.73900	2.703000	0.92315	0.655000	0.94253	GGC		TCGA-2J-AAB8-01A-12D-A40W-08	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1	0	0	0	30	474	0	94	0	9.492904e-01	0	80	0	94	2		0	0	0	0	0	2	1	0.970068	30	468	1	93	18								-6.550211	1	1	0	0		1	0	1	1	1.993259	0	0.270000	1.810000	0.235962	0.420000	2.900000e-01	0.580000	0.420000	0.430816	0.420000	0	3.500000e-01	0.500000
HAPLN1	1404	broad.mit.edu	37	5	82940318	82940318	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:82940318G>A	ENST00000274341.4	-	4	1489	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1			34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		Hyaluronan(DB08818)	ATTGCACAGAGCCATCACTGA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000274341.4	1	1	hg19	CCDS4061.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	1	0	0	26	309	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	1.000000	26	306	0	46	2								-20.000000	1	1	0	0		1	0	1	1	1.993259	0	0.270000	1.810000	0.235962	0.540000	3.700000e-01	0.760000	0.550000	0.561562	0.540000	0	4.500000e-01	0.660000
GMDS	2762	broad.mit.edu	37	6	2116094	2116094	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:2116094C>T	ENST00000380815.4	-	4	525	c.256G>A	c.(256-258)Gat>Aat	p.D86N	GMDS_ENST00000530927.1_Missense_Mutation_p.D56N	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase		GMDS/PDE8B(2)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)			TCAGTGAGATCGCCATAGTGC	0.383000																								0							SO:0001583	missense			ENST00000380815.4	1	1	hg19	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384293	0.95967	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.95756	-3.8;-3.8	5.64	5.64	0.86602	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99289	1.0898	10	0.87932	D	0	-17.6903	19.7154	0.96115	0.0:1.0:0.0:0.0	.	86	O60547	GMDS_HUMAN	N	56;86	ENSP00000436726:D56N;ENSP00000370194:D86N	ENSP00000370194:D86N	D	-	1	0	GMDS	2061093	1.000000	0.71417	0.952000	0.39060	0.987000	0.75469	7.487000	0.81328	2.664000	0.90586	0.655000	0.94253	GAT		TCGA-2J-AAB8-01A-12D-A40W-08	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3	1	0	1	26	333	0	61	1	9.966404e-01	29	87	0	61	2		0	0	0	0	0	2	1	1.000000	26	330	0	59	2								-3.221858	1	1	0	0		1	0	1	1	1.949924	0	0.270000	1.810000	0.222784	0.500000	3.300000e-01	0.700000	0.500000	0.515317	0.500000	0	4.100000e-01	0.610000
MDN1	23195	broad.mit.edu	37	6	90421896	90421896	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:90421896C>T	ENST00000369393.3	-	49	7625	c.7510G>A	c.(7510-7512)Gaa>Aaa	p.E2504K	MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	p.E2504K(1)		218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			GTATTCACTTCGACTGCATTG	0.408000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000369393.3	0	1	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870955	0.33069	2.27E-4	0.0	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03358	3.96;3.96	5.86	2.99	0.34606	.	0.415320	0.25860	N	0.027823	T	0.00815	0.0027	N	0.19112	0.55	0.26986	N	0.965244	B	0.21688	0.059	B	0.08055	0.003	T	0.47586	-0.9106	10	0.17369	T	0.5	.	11.2019	0.48747	0.0:0.6969:0.238:0.0651	.	2504	Q9NU22	MDN1_HUMAN	K	2504	ENSP00000358400:E2504K;ENSP00000413970:E2504K	ENSP00000358400:E2504K	E	-	1	0	MDN1	90478617	0.030000	0.19436	0.017000	0.16124	0.924000	0.55760	0.999000	0.29757	0.757000	0.33036	0.563000	0.77884	GAA		TCGA-2J-AAB8-01A-12D-A40W-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0	0	0	9	677	0	159	0	2.313792e-04	0	2	0	159	2		0	0	0	0	0	2	1	0.993981	9	670	0	157	2								-2.268995	0	1	121412	2	44	1	0	0	0	1.885427	1	0.270000	1.810000	0.203318	0.080000	4.000000e-02	0.160000	0.090000	0.098090	0.080000	0	6.000000e-02	0.130000
MUC17	140453	broad.mit.edu	37	7	100692136	100692136	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:100692136G>A	ENST00000306151.4	+	5	12610	c.12546G>A	c.(12544-12546)gaG>gaA	p.E4182E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated			343	Lung NSC(181;0.136)|all_lung(186;0.182)				GGCCACCGGAGACTATCTCTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000306151.4	1	1	hg19	CCDS34711.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	0	29	369	0	68	1	7.753961e-01	16	22	0	68	2		0	0	0	0	0	2	1	1.000000	27	360	0	64	2								-8.571638	1	1	121412	1	39	1	0	1	1	1.962996	0	0.270000	1.810000	0.232710	0.510000	3.500000e-01	0.700000	0.510000	0.524188	0.510000	0	4.200000e-01	0.610000
TRPV6	55503	broad.mit.edu	37	7	142572369	142572369	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:142572369G>A	ENST00000359396.3	-	11	1572	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6			42	Melanoma(164;0.059)				CTGATGAGCCGCATCACCATG	0.607000																								0							SO:0001583	missense			ENST00000359396.3	0	1	hg19	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267374	0.59540	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.88975	-2.45;-2.45	4.52	2.68	0.31781	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93854	0.8034	M	0.89287	3.02	0.80722	D	1	D	0.67145	0.996	P	0.62885	0.908	D	0.93494	0.6838	10	0.56958	D	0.05	-32.9258	11.9495	0.52946	0.0:0.0:0.5445:0.4555	.	443	Q9H1D0	TRPV6_HUMAN	W	443;275;66	ENSP00000352358:R443W;ENSP00000411100:R66W	ENSP00000310825:R275W	R	-	1	2	TRPV6	142282491	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	1.441000	0.35035	0.629000	0.30376	0.561000	0.74099	CGG		TCGA-2J-AAB8-01A-12D-A40W-08	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	0	0	0	4	121	0	28	0	1.845472e-03	0	2	0	28	2		0	0	0	0	0	2	1	0.885799	4	118	0	28	2								-3.314468	1	1	121412	4	25	1	0	1	1	1.978737	0	0.270000	1.810000	0.233797	0.240000	8.000000e-02	0.520000	0.220000	0.270622	0.240000	0	1.500000e-01	0.380000
KRBA1	84626	broad.mit.edu	37	7	149431136	149431136	+	Nonstop_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:149431136A>G	ENST00000485033.2	+	15	2910	c.2910A>G	c.(2908-2910)tgA>tgG	p.*970W	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Nonstop_Mutation_p.*1030W|KRBA1_ENST00000319551.8_Nonstop_Mutation_p.*970W			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1			27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		GGGCGCATTGATGGCATTCCT	0.662000																								0							SO:0001578	stop_lost			ENST00000485033.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	1.730	-0.494361	0.04322	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	.	.	.	4.48	-4.96	0.03038	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8325	0.52303	0.4242:0.0:0.5758:0.0	.	.	.	.	W	1030;970;970	.	.	X	+	3	0	KRBA1	149062069	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.962000	0.03841	-0.871000	0.04042	0.533000	0.62120	TGA		TCGA-2J-AAB8-01A-12D-A40W-08	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	0	0	0	5	76	1	24		0	0	0	1	24	2		0	0	0	0	0	2	0	0.084917	5	75	1	24	11								-9.690517	1	1	0	0		1	0	1	1	1.978737	0	0.270000	1.810000	0.233797	0.450000	1.800000e-01	0.880000	0.410000	0.488501	0.450000	0	2.900000e-01	0.670000
SDK1	221935	broad.mit.edu	37	7	4259748	4259748	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:4259748C>G	ENST00000404826.2	+	39	5686	c.5547C>G	c.(5545-5547)agC>agG	p.S1849R	SDK1_ENST00000389531.3_Missense_Mutation_p.S1829R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1			153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)			CAGGGGTGAGCAAGGTGGTGA	0.572000																								0							SO:0001583	missense			ENST00000404826.2	1	1	hg19	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108140	0.56291	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.58358	0.34;0.34	5.28	5.28	0.74379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.89904	3.07	0.44352	D	0.997247	D;P;D	0.58620	0.983;0.604;0.962	D;P;D	0.66602	0.945;0.517;0.933	T	0.78981	-0.1989	10	0.87932	D	0	.	10.8802	0.46933	0.0:0.8536:0.0:0.1464	.	1829;336;1849	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	R	1849;97;1829	ENSP00000385899:S1849R;ENSP00000374182:S1829R	ENSP00000374182:S1829R	S	+	3	2	SDK1	4226274	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.082000	0.30803	2.623000	0.88846	0.650000	0.86243	AGC		TCGA-2J-AAB8-01A-12D-A40W-08	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	0	0	0	13	300	0	60	0	6.116147e-03	0	3	0	60	2		0	0	0	0	0	2	1	0.999522	12	297	0	59	2								-14.083400	1	1	121412	1	29	1	2	2	4	2.188676	1	0.270000	1.810000	0.316159	0.360000	1.900000e-01	1.000000	0.330000	0.465774	0.360000	0	2.600000e-01	1.000000
ZFPM2	23414	broad.mit.edu	37	8	106431448	106431448	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:106431448C>G	ENST00000407775.2	+	2	367	c.117C>G	c.(115-117)gaC>gaG	p.D39E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2			99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		CCAAAGGAGACTTTCCATTGG	0.423000																								0							SO:0001583	missense			ENST00000407775.2	1	1	hg19	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361570	0.41801	.	.	ENSG00000169946	ENST00000407775	T	0.19394	2.15	5.37	5.37	0.77165	.	0.088240	0.42964	D	0.000630	T	0.10809	0.0264	N	0.05124	-0.11	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.20472	-1.0274	10	0.25106	T	0.35	.	12.4488	0.55666	0.0:0.9232:0.0:0.0768	.	39	Q8WW38	FOG2_HUMAN	E	39	ENSP00000384179:D39E	ENSP00000384179:D39E	D	+	3	2	ZFPM2	106500624	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.989000	0.49393	2.528000	0.85240	0.591000	0.81541	GAC		TCGA-2J-AAB8-01A-12D-A40W-08	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1	1	0	1	42	283	0	49	0	2.319980e-01	0	7	0	49	2		0	0	0	0	0	2	1	1.000000	42	282	0	48	2								-20.000000	1	0	0	0		1	0	1	1	1.971349	0	0.270000	1.810000	0.229429	0.900000	6.600000e-01	1.000000	1.000000	0.892792	0.900000	1	7.700000e-01	1.000000
CSMD3	114788	broad.mit.edu	37	8	113326150	113326150	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:113326150G>A	ENST00000297405.5	-	49	7925	c.7681C>T	c.(7681-7683)Cgg>Tgg	p.R2561W	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2491W|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2457W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2521W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					TATCTTATCCGGAAGCCTTTT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001583	missense			ENST00000297405.5	1	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222747	0.58668	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.63	2.35	0.29111	CUB (5);	0.278292	0.30118	N	0.010380	T	0.38931	0.1059	L	0.51422	1.61	0.41494	D	0.988245	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79108	0.944;0.967;0.992	T	0.17745	-1.0359	10	0.45353	T	0.12	.	15.2984	0.73928	0.0:0.0:0.5384:0.4615	.	2457;2561;2521	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	2521;2561;1831;2457;2491	ENSP00000345799:R2521W;ENSP00000297405:R2561W;ENSP00000341558:R1831W;ENSP00000412263:R2457W;ENSP00000343124:R2491W	ENSP00000297405:R2561W	R	-	1	2	CSMD3	113395326	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	0.785000	0.26830	0.624000	0.30286	0.579000	0.79373	CGG		TCGA-2J-AAB8-01A-12D-A40W-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	41	259	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1.000000	39	257	0	54	2								-2.921957	1	1	121408	4	39	1	0	1	1	1.971349	0	0.270000	1.810000	0.229429	0.950000	7.000000e-01	1.000000	1.000000	0.925342	0.950000	1	8.200000e-01	1.000000
GSDMD	79792	broad.mit.edu	37	8	144645015	144645015	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:144645015A>T	ENST00000526406.1	+	14	2279	c.1396A>T	c.(1396-1398)Atg>Ttg	p.M466L	GSDMD_ENST00000533063.1_Missense_Mutation_p.M514L|GSDMD_ENST00000262580.4_Missense_Mutation_p.M466L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D			12					CCAGGGCCGCATGTGTGCACT	0.687000																								0							SO:0001583	missense			ENST00000526406.1	1	1	hg19	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.958655	0.00465	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580	T;T;T	0.13657	2.65;2.57;2.65	4.9	-3.65	0.04502	.	0.971022	0.08500	N	0.936553	T	0.02380	0.0073	N	0.00436	-1.5	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.44467	-0.9326	10	0.02654	T	1	-4.7448	6.4597	0.21950	0.3686:0.162:0.4693:0.0	.	466;466;514	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	L	466;514;466	ENSP00000433209:M466L;ENSP00000433958:M514L;ENSP00000262580:M466L	ENSP00000262580:M466L	M	+	1	0	GSDMD	144716158	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.066000	0.14489	-0.378000	0.07918	-0.288000	0.09946	ATG		TCGA-2J-AAB8-01A-12D-A40W-08	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	1	0	1	11	92	0	26	1	9.989103e-01	30	77	0	26	2		0	0	0	0	0	2	1	0.998641	11	92	0	24	2								-17.950580	1	1	0	0		1	0	1	1	1.971349	0	0.270000	1.810000	0.229429	0.750000	4.100000e-01	1.000000	1.000000	0.757447	0.750000	0	5.600000e-01	0.970000
DDHD2	23259	broad.mit.edu	37	8	38107250	38107250	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:38107250C>G	ENST00000397166.2	+	11	1798	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000517385.1_Missense_Mutation_p.Q44E|DDHD2_ENST00000529845.1_5'Flank|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q425E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	p.Q425K(1)		28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		CCGAGATCTTCAGGAAATAGG	0.368000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000397166.2	0	1	hg19	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453824	0.43531	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T;T	0.44881	0.91;0.91;0.91	5.5	5.5	0.81552	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.113509	0.64402	D	0.000015	T	0.28333	0.0700	L	0.39147	1.195	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.12837	0.008;0.006	T	0.10132	-1.0643	10	0.02654	T	1	-18.2805	9.4121	0.38498	0.2626:0.6029:0.1345:0.0	.	237;425	B4DSR3;O94830	.;DDHD2_HUMAN	E	425;425;237;44	ENSP00000380352:Q425E;ENSP00000429932:Q425E;ENSP00000429017:Q44E	ENSP00000380352:Q425E	Q	+	1	0	DDHD2	38226407	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.445000	0.52921	2.744000	0.94065	0.655000	0.94253	CAG		TCGA-2J-AAB8-01A-12D-A40W-08	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	1	0	0	13	125	1	34	1	1.646427e-01	4	17	1	34	4		0	0	0	0	0	2	0	0.492065	13	125	1	33	14								-18.924570	1	1	0	0		1	0	1	1	1.842630	1	0.270000	1.810000	0.157384	0.590000	3.400000e-01	0.900000	0.590000	0.611731	0.590000	0	4.500000e-01	0.760000
ZFHX4	79776	broad.mit.edu	37	8	77763870	77763870	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:77763870A>T	ENST00000521891.2	+	10	5161	c.4713A>T	c.(4711-4713)aaA>aaT	p.K1571N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1545N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1526N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1526N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		AGCTGAAAAAAGTTTTGCAGG	0.413000										HNSCC(33;0.089)														0							SO:0001583	missense			ENST00000521891.2	0	1	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.15	1.555228	0.27739	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56444	0.46;0.51;0.47;0.47	4.6	0.728	0.18260	Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.46442	U	0.000298	T	0.63022	0.2476	L	0.57536	1.79	0.58432	D	0.999996	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.991;0.996;0.996	T	0.60782	-0.7195	10	0.56958	D	0.05	.	8.7254	0.34467	0.4063:0.0:0.5937:0.0	.	1526;1526;1571	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	1571;1571;1526;1526;1545	ENSP00000430497:K1571N;ENSP00000399605:K1526N;ENSP00000050961:K1526N;ENSP00000430848:K1545N	ENSP00000050961:K1526N	K	+	3	2	ZFHX4	77926425	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.862000	0.27899	0.260000	0.21731	-0.375000	0.07067	AAA		TCGA-2J-AAB8-01A-12D-A40W-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	0	10	133	0	21	0	0	0	1	0	21	2		0	0	0	0	0	2	1	0.997108	10	132	0	21	2								-14.746630	1	1	0	0		1	0	1	1	1.971349	0	0.270000	1.810000	0.229429	0.490000	2.600000e-01	0.820000	0.480000	0.519694	0.490000	0	3.600000e-01	0.660000
MFHAS1	9258	broad.mit.edu	37	8	8748773	8748773	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:8748773G>A	ENST00000276282.6	-	1	2382	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1			21		Hepatocellular(245;0.217)			GTTCTTGTCCGAAACGCCATA	0.642000													Melanoma(103;1201 2045 17515 28966)											0							SO:0001583	missense			ENST00000276282.6	0	1	hg19	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249044	0.59103	.	.	ENSG00000147324	ENST00000276282	T	0.37235	1.21	5.28	5.28	0.74379	ROC GTPase (1);	0.172306	0.38837	N	0.001551	T	0.41166	0.1147	L	0.61218	1.895	0.50039	D	0.999841	D	0.62365	0.991	P	0.45558	0.485	T	0.42120	-0.9470	10	0.72032	D	0.01	.	13.7779	0.63066	0.0:0.1534:0.8466:0.0	.	599	Q9Y4C4	MFHA1_HUMAN	L	599	ENSP00000276282:S599L	ENSP00000276282:S599L	S	-	2	0	MFHAS1	8786183	1.000000	0.71417	0.386000	0.26170	0.938000	0.57974	4.486000	0.60286	2.736000	0.93811	0.655000	0.94253	TCG		TCGA-2J-AAB8-01A-12D-A40W-08	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	0	0	0	5	253	0	45	0	3.564281e-03	0	4	0	45	2		0	0	0	0	0	2	1	0.934211	5	247	0	44	2								-3.254147	1	1	0	0		1	0	1	1	1.868917	1	0.270000	1.810000	0.158695	0.130000	4.000000e-02	0.270000	0.120000	0.145288	0.130000	0	8.000000e-02	0.200000
SEC16A	9919	broad.mit.edu	37	9	139360714	139360714	+	Splice_Site	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:139360714A>G	ENST00000371706.3	-	5	3628		c.e5+1		SEC16A_ENST00000431893.2_Splice_Site|SEC16A_ENST00000290037.6_Splice_Site|SEC16A_ENST00000313050.7_Splice_Site			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)			51		Myeloproliferative disorder(178;0.0511)			GCCGCCGCGTACCTGGTGCGA	0.622000																								0							SO:0001630	splice_region_variant			ENST00000371706.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	12.70	2.016902	0.35606	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000433860;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0933	0.72215	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC16A	138480535	1.000000	0.71417	0.950000	0.38849	0.057000	0.15508	6.084000	0.71335	2.168000	0.68352	0.528000	0.53228	.		TCGA-2J-AAB8-01A-12D-A40W-08	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	0	0	1	5	41	0	13	1	1.714286e-02	2	0	0	13	2		0	0	0	0	0	2	1	0.933938	5	40	0	13	2								-13.066360	1	1	0	0		1	0	0	0	2.033948	0	0.270000	1.810000	0.262030	0.810000	3.200000e-01	1.000000	1.000000	0.785430	0.810000	0	5.300000e-01	1.000000
SPTLC1	10558	broad.mit.edu	37	9	94794825	94794825	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:94794825G>A	ENST00000262554.2	-	15	1349	c.1344C>T	c.(1342-1344)gtC>gtT	p.V448V		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1			14				L-Serine(DB00133)	GTTCCACCGTGACCACAACCC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000262554.2	1	1	hg19	CCDS6692.1																																																																																				TCGA-2J-AAB8-01A-12D-A40W-08	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	1	0	1	37	323	0	64	1	9.998319e-01	47	69	0	64	2		0	0	0	0	0	2	1	1.000000	37	319	0	61	2								-20.000000	1	1	0	0		1	0	0	0	2.038432	0	0.270000	1.810000	0.266037	0.750000	5.400000e-01	0.990000	0.750000	0.765779	0.750000	0	6.400000e-01	0.880000
CSF2RA	1438	broad.mit.edu	37	X	1422850	1422850	+	Silent	SNP	T	T	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:1422850T>C	ENST00000381524.3	+	11	1167	c.981T>C	c.(979-981)atT>atC	p.I327I	CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000381529.3_Silent_p.I327I|CSF2RA_ENST00000417535.2_Silent_p.I361I|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000501036.2_Silent_p.I194I|CSF2RA_ENST00000432318.2_Silent_p.I327I|CSF2RA_ENST00000381509.3_Silent_p.I327I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)			45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)		Sargramostim(DB00020)	CTGTGTACATTTATGTGCTCC	0.498000													Esophageal Squamous(131;723 1707 25334 40494 41806)											0							SO:0001819	synonymous_variant			ENST00000381524.3	0	1	hg19	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	7.124	0.578594	0.13686	.	.	ENSG00000198223	ENST00000381507	.	.	.	0.806	-0.189	0.13260	.	.	.	.	.	T	0.55081	0.1898	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53187	-0.8474	5	0.62326	D	0.03	.	3.1091	0.06352	0.0:0.6445:0.0:0.3555	.	.	.	.	S	283	.	ENSP00000370918:F283S	F	+	2	0	CSF2RA	1382850	0.000000	0.05858	0.005000	0.12908	0.103000	0.19146	-0.764000	0.04735	-0.087000	0.12528	0.084000	0.15446	TTT		TCGA-2J-AAB8-01A-12D-A40W-08	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2	0	0	0	7	1268	1	284	0	6.470946e-04	0	6	1	284	2		0	0	0	0	0	2	0	0.003256	7	1242	2	278	22								-20.000000	1	1	0	0		1	0	1	1			0.270000	1.810000	0.270000	0.010000	0	0.040000	0.020000	0.023168	0.010000	0	0	0.030000
PHEX	5251	broad.mit.edu	37	X	22117217	22117217	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:22117217G>A	ENST00000379374.4	+	9	1592	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	PHEX_ENST00000418858.3_Missense_Mutation_p.V46I|PHEX_ENST00000537599.1_Missense_Mutation_p.V343I|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.V246I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked			42					GGTGGTCCGCGTCCCGCAGTA	0.443000																								0							SO:0001583	missense			ENST00000379374.4	1	1	hg19	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801058	0.90538	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.46	5.46	0.80206	Peptidase M13 (1);	0.109879	0.64402	D	0.000008	T	0.71592	0.3358	L	0.39147	1.195	0.45995	D	0.998802	D;D	0.56746	0.977;0.964	B;P	0.44860	0.332;0.462	T	0.75836	-0.3177	10	0.62326	D	0.03	.	18.3838	0.90459	0.0:0.0:1.0:0.0	.	343;343	F5GXU4;P78562	.;PHEX_HUMAN	I	343;343;246;46	ENSP00000368682:V343I;ENSP00000440362:V343I;ENSP00000439418:V246I;ENSP00000443531:V46I	ENSP00000368682:V343I	V	+	1	0	PHEX	22027138	1.000000	0.71417	0.843000	0.33291	0.944000	0.59088	7.562000	0.82300	2.282000	0.76494	0.529000	0.55759	GTC		TCGA-2J-AAB8-01A-12D-A40W-08	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	1	0	1	42	289	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1.000000	41	285	0	48	2								-18.129090	1	1	121412	2	41	1	0	1	1			0.270000	1.810000	0.270000	0.460000	3.400000e-01	0.600000	0.470000	0.474361	0.460000	0	4.000000e-01	0.540000
