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
JAGN1	84522	broad.mit.edu	37	3	9934929	9934930	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			-	G	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:9934929_9934930insG	ENST00000307768.4	+	2	589_590	c.420_421insG	c.(421-423)ggtfs	p.G141fs		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)			10	Medulloblastoma(99;0.227)				GTTTCCTCTTTGGTTTTTCTGC	0.515000																								0							SO:0001589	frameshift_variant			ENST00000307768.4	0	1	hg19	CCDS2588.1																																																																																				TCGA-S4-A8RP-01A-11D-A36O-08	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	1	0	0	116	483	0	93	0	1	1	230	0	93	2	0	0	0	0	0	0		1	1.000000	120	476	0	91	2	0	0	0	0	0	0		-3.418312	1	1	0	0		1	0	0	0	2.011262	0	0.520000	1.960000	0.517491	0.730000	0.620000	0.860000	0.740000	0.743700	0.730000	0	0.670000	0.800000
SGK1	6446	broad.mit.edu	37	6	134493456	134493460	+	Splice_Site	DEL	TGTAA	TGTAA	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			TGTAA	-	TGTAA	TGTAA		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:134493456_134493460delTGTAA	ENST00000237305.7	-	8	751		c.e8-2		SGK1_ENST00000413996.3_Splice_Site|SGK1_ENST00000367858.5_Splice_Site|SGK1_ENST00000489458.2_Splice_Site|SGK1_ENST00000475719.2_Splice_Site|SGK1_ENST00000528577.1_Splice_Site|SGK1_ENST00000367857.5_Splice_Site	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1			46	Colorectal(23;0.221)				TTTAAGTCTCTGTAAAAAAGTGAAT	0.356000																								0							SO:0001630	splice_region_variant			ENST00000237305.7	1	1	hg19	CCDS5170.1																																																																																				TCGA-S4-A8RP-01A-11D-A36O-08	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2	1	0	0	72	303	0	65	1	9.999883e-01	3	69	0	65	2	0	0	0	0	0	0		1	1.000000	86	307	0	63	2	0	0	0	0	0	0		-2.974142	1	0	0	0		1	0	1	1	1.504111	1	0.520000	1.960000	0.351351	0.540000	0.430000	0.660000	0.540000	0.548407	0.540000	0	0.480000	0.600000
GTPBP4	23560	broad.mit.edu	37	10	1058521	1058521	+	Silent	SNP	T	T	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:1058521T>A	ENST00000360803.4	+	14	1543	c.1461T>A	c.(1459-1461)atT>atA	p.I487I	GTPBP4_ENST00000538293.1_Silent_p.I371I|GTPBP4_ENST00000545048.1_Silent_p.I440I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4			21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)		CAAAGCAAATTCGAGAGAAAA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000360803.4	1	1	hg19	CCDS31132.1																																																																																				TCGA-S4-A8RP-01A-11D-A36O-08	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	1	0	1	76	202	0	40	1	1	42	86	0	40	2		0	0	0	0	0	2	1	1.000000	73	200	0	38	2		0	0	0	0	40	2	-20.000000	1	1	0	0		1	1	2	3	2.027623	0	0.520000	1.960000	0.521245	0.990000	0.850000	1.000000	1.000000	0.981772	0.990000	1	0.940000	1.000000
PITPNM2	57605	broad.mit.edu	37	12	123480179	123480179	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:123480179A>G	ENST00000542749.1	-	12	1874	c.1811T>C	c.(1810-1812)cTg>cCg	p.L604P	PITPNM2_ENST00000280562.5_Missense_Mutation_p.L604P|PITPNM2_ENST00000320201.4_Missense_Mutation_p.L604P|PITPNM2_ENST00000392428.1_Missense_Mutation_p.L325P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2			39	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TGCATTCATCAGGATGCCCGG	0.672000																								0							SO:0001583	missense			ENST00000542749.1	0	1	hg19	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	A	7.514	0.655371	0.14580	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47528	1.16;1.16;0.84;1.16	4.83	2.46	0.29980	.	1.317200	0.05113	N	0.489206	T	0.38026	0.1025	L	0.29908	0.895	0.50813	D	0.999895	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.0	T	0.08764	-1.0706	10	0.52906	T	0.07	-2.8824	7.1979	0.25864	0.7029:0.0:0.2971:0.0	.	604;604	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	P	604;604;325;604	ENSP00000280562:L604P;ENSP00000322218:L604P;ENSP00000376223:L325P;ENSP00000437611:L604P	ENSP00000280562:L604P	L	-	2	0	PITPNM2	122046132	1.000000	0.71417	0.067000	0.19924	0.223000	0.24884	2.220000	0.42908	0.223000	0.20920	0.459000	0.35465	CTG		TCGA-S4-A8RP-01A-11D-A36O-08	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	1	0	0	4	91	0	16	0	3.155902e-03	0	2	0	16	2		0	0	0	0	0	2	1	0.889405	4	90	0	15	2		0	0	0	0	16	2	-7.915158	1	1	0	0		1	0	0	0	2.002266	0	0.520000	1.960000	0.517491	0.170000	0.050000	0.370000	0.160000	0.195309	0.170000	0	0.100000	0.270000
DDX55	57696	broad.mit.edu	37	12	124103244	124103244	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:124103244G>T	ENST00000238146.4	+	12	1243	c.1193G>T	c.(1192-1194)aGa>aTa	p.R398I	SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000421670.3_Missense_Mutation_p.R5I|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Missense_Mutation_p.R367I	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55			14	all_neural(191;0.101)|Medulloblastoma(191;0.163)				AAGCCCCAGAGAAACACAGCG	0.527000											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000238146.4	1	1	hg19	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279677	0.23307	.	.	ENSG00000111364	ENST00000238146;ENST00000538744;ENST00000421670	T;T;T	0.44482	4.02;3.74;0.92	6.06	-2.24	0.06909	Helicase, C-terminal (1);	38.690800	0.00644	U	0.000527	T	0.19525	0.0469	N	0.02916	-0.46	0.25732	N	0.985252	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.13282	-1.0515	10	0.34782	T	0.22	-21.4456	5.5124	0.16888	0.29:0.1477:0.4657:0.0966	.	398;367	Q8NHQ9;F5H5U2	DDX55_HUMAN;.	I	398;367;5	ENSP00000238146:R398I;ENSP00000443114:R367I;ENSP00000442332:R5I	ENSP00000238146:R398I	R	+	2	0	DDX55	122669197	0.014000	0.17966	0.001000	0.08648	0.636000	0.38137	0.389000	0.20751	-0.570000	0.06022	-0.290000	0.09829	AGA		TCGA-S4-A8RP-01A-11D-A36O-08	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2	1	0	1	74	236	0	40	1	9.999631e-01	19	32	0	40	2		0	0	0	0	0	2	1	1.000000	72	232	0	38	2		0	0	0	0	40	2	-20.000000	1	1	0	0		1	0	0	0	2.002266	0	0.520000	1.960000	0.517491	0.900000	0.730000	1.000000	1.000000	0.907190	0.900000	1	0.810000	1.000000
GOLGA3	2802	broad.mit.edu	37	12	133384600	133384600	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:133384600G>C	ENST00000450791.2	-	4	1238	c.1055C>G	c.(1054-1056)gCg>gGg	p.A352G	GOLGA3_ENST00000545875.1_Missense_Mutation_p.A352G|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A352G|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A352G|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A352G			Q08378	GOGA3_HUMAN	golgin A3			64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)			CAGGGTATCCGCAGGAATCTC	0.632000																								0							SO:0001583	missense			ENST00000450791.2	1	1	hg19	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	g	9.288	1.049914	0.19827	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.43	1.61	0.23674	.	0.752409	0.13598	N	0.376048	T	0.25975	0.0633	L	0.56769	1.78	0.21355	N	0.999713	P;P;B	0.43352	0.804;0.553;0.394	B;B;B	0.35727	0.148;0.148;0.209	T	0.07868	-1.0750	10	0.45353	T	0.12	.	9.2674	0.37650	0.3553:0.0:0.6447:0.0	.	352;352;352	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	G	352	ENSP00000204726:A352G;ENSP00000410378:A352G;ENSP00000409303:A352G;ENSP00000442143:A352G;ENSP00000442603:A352G	ENSP00000204726:A352G	A	-	2	0	GOLGA3	131894673	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	2.066000	0.41452	0.289000	0.22422	-0.232000	0.12228	GCG		TCGA-S4-A8RP-01A-11D-A36O-08	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	1	0	1	75	271	0	61	1	9.569960e-01	7	14	0	61	2		0	0	0	0	0	2	1	1.000000	73	263	0	61	2		0	0	0	0	61	2	-20.000000	1	1	0	0		1	0	0	0	2.002266	0	0.520000	1.960000	0.517491	0.820000	0.660000	0.990000	0.830000	0.832338	0.820000	0	0.740000	0.910000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	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-S4-A8RP-01A-11D-A36O-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	80	278	0	46	1	8.213332e-01	2	11	0	46	2	1	1	70	334	0	355	2	1	1.000000	78	274	0	46	2	1	1	2314	5714	0	46	2	-20.000000	1	1	0	0		1	0	0	0	2.002266	0	0.520000	1.960000	0.517491	0.850000	0.690000	1.000000	1.000000	0.856722	0.850000	1	0.760000	0.940000
OR6C76	390326	broad.mit.edu	37	12	55820043	55820043	+	Missense_Mutation	SNP	A	A	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:55820043A>C	ENST00000328314.3	+	1	6	c.6A>C	c.(4-6)aaA>aaC	p.K2N		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76			14					CAGAAATGAAAAATAGAACAT	0.353000																								0							SO:0001583	missense			ENST00000328314.3	1	1	hg19	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	a	14.40	2.524254	0.44866	.	.	ENSG00000185821	ENST00000328314	T	0.01455	4.87	4.35	0.417	0.16421	.	0.826740	0.10355	U	0.684675	T	0.01523	0.0049	N	0.25992	0.78	0.09310	N	1	B	0.16603	0.018	B	0.17098	0.017	T	0.47959	-0.9076	10	0.72032	D	0.01	.	2.9347	0.05810	0.518:0.2723:0.0781:0.1316	.	2	A6NM76	O6C76_HUMAN	N	2	ENSP00000328402:K2N	ENSP00000328402:K2N	K	+	3	2	OR6C76	54106310	0.003000	0.15002	0.105000	0.21289	0.688000	0.40055	1.295000	0.33377	-0.019000	0.14055	0.487000	0.48397	AAA		TCGA-S4-A8RP-01A-11D-A36O-08	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	1	0	0	18	311	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	0.999982	18	308	0	41	2		0	0	0	0	41	2	-5.208442	1	1	0	0		1	0	0	0	2.002266	0	0.520000	1.960000	0.517491	0.210000	0.120000	0.320000	0.210000	0.219010	0.210000	0	0.160000	0.270000
CLSTN3	9746	broad.mit.edu	37	12	7301731	7301731	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:7301731C>A	ENST00000266546.6	+	13	2461	c.2011C>A	c.(2011-2013)Caa>Aaa	p.Q671K	CLSTN3_ENST00000537408.1_Missense_Mutation_p.Q683K	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3			33					CCCTGATCTTCAAATCACCTG	0.562000																								0							SO:0001583	missense			ENST00000266546.6	1	1	hg19	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945190	0.34283	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.36699	1.24;1.24	5.71	5.71	0.89125	.	0.121175	0.56097	D	0.000022	T	0.18299	0.0439	N	0.04959	-0.14	0.46901	D	0.999246	B;B	0.12013	0.005;0.002	B;B	0.09377	0.002;0.004	T	0.12477	-1.0546	10	0.09590	T	0.72	-14.034	14.6704	0.68939	0.1452:0.8548:0.0:0.0	.	683;671	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	K	671;683	ENSP00000266546:Q671K;ENSP00000440679:Q683K	ENSP00000266546:Q671K	Q	+	1	0	CLSTN3	7192998	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.959000	0.49153	2.698000	0.92095	0.561000	0.74099	CAA		TCGA-S4-A8RP-01A-11D-A36O-08	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	1	0	1	19	166	0	31	1	9.993705e-01	12	96	0	31	2		0	0	0	0	0	2	1	0.999993	19	165	0	31	2		0	0	0	0	31	2	-20.000000	1	1	0	0		1	0	0	0	2.019861	0	0.520000	1.960000	0.520000	0.390000	0.240000	0.580000	0.400000	0.409300	0.390000	0	0.310000	0.490000
CRYL1	51084	broad.mit.edu	37	13	21006373	21006373	+	Silent	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr13:21006373C>A	ENST00000298248.7	-	5	563	c.501G>T	c.(499-501)acG>acT	p.T167T	CRYL1_ENST00000382812.1_Silent_p.T145T|MIR4499_ENST00000584834.1_RNA|CRYL1_ENST00000480748.1_5'UTR	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1			14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)			TGTCCACTGTCGTAGGGGCCG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000298248.7	1	0	hg19	CCDS41871.1																																																																																				TCGA-S4-A8RP-01A-11D-A36O-08	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	1	0	0	9	218	0	37	0	9.866219e-01	0	186	0	37	2		0	0	0	0	0	2	1	0.993644	9	212	0	37	2		0	0	0	0	37	2	-3.318793	1	1	120936	1	35	1	0	0	0	2.010459	0	0.520000	1.960000	0.517491	0.150000	0.070000	0.270000	0.150000	0.166398	0.150000	0	0.110000	0.220000
SPPL2A	84888	broad.mit.edu	37	15	51012246	51012246	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:51012246T>C	ENST00000261854.5	-	14	1653	c.1379A>G	c.(1378-1380)aAg>aGg	p.K460R	SPPL2A_ENST00000559293.1_5'Flank	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A			15					AGGTTGCCCCTTTTTCATCAG	0.408000													Melanoma(50;790 1209 4069 22965 33125)											0							SO:0001583	missense			ENST00000261854.5	0	1	hg19	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	5.356	0.250885	0.10130	.	.	ENSG00000138600	ENST00000261854	T	0.17054	2.3	5.66	4.52	0.55395	.	0.218396	0.51477	D	0.000088	T	0.06508	0.0167	N	0.04746	-0.17	0.20638	N	0.999871	P	0.41475	0.751	B	0.40982	0.345	T	0.14671	-1.0464	10	0.12766	T	0.61	-3.5127	1.9865	0.03437	0.2572:0.0784:0.1375:0.5268	.	460	Q8TCT8	PSL2_HUMAN	R	460	ENSP00000261854:K460R	ENSP00000261854:K460R	K	-	2	0	AC012100.1	48799538	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	2.041000	0.41213	0.955000	0.37878	0.477000	0.44152	AAG		TCGA-S4-A8RP-01A-11D-A36O-08	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	0	0	0	5	434	0	48	0	6.139203e-01	0	166	0	48	2		0	0	0	0	0	2	1	0.933217	5	422	0	48	2		0	0	0	0	48	2	-2.614492	1	1	0	0		1	1	2	3	2.395965	1	0.520000	1.960000	0.595687	0.060000	0.010000	1.000000	0.050000	0.243357	0.060000	0	0.030000	1.000000
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:83776476C>T	ENST00000322019.9	+	1	318	c.44C>T	c.(43-45)tCg>tTg	p.S15L	TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15L|TM6SF1_ENST00000379390.6_Missense_Mutation_p.S15L|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15L			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	p.S15W(1)		15					CTGTCCCTCTCGGCCATCCCG	0.736000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000322019.9	0	1	hg19	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678630	0.47886	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	3.12	2.19	0.27852	.	0.244473	0.31847	U	0.006973	T	0.18551	0.0445	N	0.11927	0.2	0.28287	N	0.923729	B;B;B	0.16802	0.008;0.017;0.019	B;B;B	0.11329	0.002;0.002;0.006	T	0.12192	-1.0557	10	0.40728	T	0.16	-5.543	7.7752	0.29033	0.0:0.8663:0.0:0.1337	.	15;15;15	E9PD04;Q6P4D7;Q9BZW5	.;.;TM6S1_HUMAN	L	15	ENSP00000317000:S15L;ENSP00000368696:S15L;ENSP00000368693:S15L;ENSP00000368700:S15L;ENSP00000258909:S15L	ENSP00000258909:S15L	S	+	2	0	TM6SF1	81567480	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	3.405000	0.52630	0.318000	0.23185	0.306000	0.20318	TCG		TCGA-S4-A8RP-01A-11D-A36O-08	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	1	0	0	9	100	0	13	0	1.600310e-01	0	8	0	13	2		0	0	0	0	0	2	1	0.994635	9	99	0	12	2		0	0	0	0	13	2	-13.963460	1	1	121026	1	25	1	1	2	3	2.395965	1	0.520000	1.960000	0.595687	0.430000	0.200000	1.000000	0.380000	0.523283	0.430000	0	0.290000	1.000000
MCTP2	55784	broad.mit.edu	37	15	94945245	94945245	+	Silent	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:94945245C>T	ENST00000357742.4	+	16	2082	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	MCTP2_ENST00000451018.3_Silent_p.F694F|MCTP2_ENST00000557742.1_Silent_p.F282F|MCTP2_ENST00000331706.4_Silent_p.F282F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2			49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		CAATAGCATTCGCGGTAAGCT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000357742.4	1	1	hg19	CCDS32338.1																																																																																				TCGA-S4-A8RP-01A-11D-A36O-08	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	1	0	0	102	453	0	69	1	8.433548e-01	3	14	0	69	2		0	0	0	0	0	2	1	1.000000	102	448	0	68	2		0	0	0	0	69	2	-3.103181	1	1	121408	5	40	1	1	2	3	2.395965	1	0.520000	1.960000	0.595687	0.850000	0.700000	1.000000	0.840000	0.873107	0.850000	1	0.770000	1.000000
SRL	6345	broad.mit.edu	37	16	4245590	4245590	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:4245590G>A	ENST00000399609.3	-	5	586	c.574C>T	c.(574-576)Cca>Tca	p.P192S	SRL_ENST00000537996.1_Missense_Mutation_p.P150S	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin			21					ATGATGCCTGGTGTATCCACA	0.448000																								0							SO:0001583	missense			ENST00000399609.3	1	1	hg19	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989453	0.93106	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.99769	-6.7;-6.7	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.99880	0.9943	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96581	0.9430	10	0.72032	D	0.01	-8.2552	19.0659	0.93110	0.0:0.0:1.0:0.0	.	192	Q86TD4-2	.	S	192;650;150	ENSP00000382518:P192S;ENSP00000440350:P150S	ENSP00000333285:P650S	P	-	1	0	SRL	4185591	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.567000	0.98161	2.797000	0.96272	0.655000	0.94253	CCA		TCGA-S4-A8RP-01A-11D-A36O-08	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	1	0	1	184	517	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1.000000	182	509	0	100	2		0	0	0	0	100	2	-20.000000	1	1	0	0		1	1	2	3	2.041787	0	0.520000	1.960000	0.522483	0.990000	0.880000	1.000000	1.000000	0.981759	0.990000	1	0.940000	1.000000
XAF1	54739	broad.mit.edu	37	17	6674085	6674085	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:6674085C>A	ENST00000361842.3	+	6	870	c.631C>A	c.(631-633)Cgt>Agt	p.R211S	XAF1_ENST00000441631.1_Missense_Mutation_p.R211S|XAF1_ENST00000346752.4_Missense_Mutation_p.R192S	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1			6					GAAAGATGTTCGTCCAAAGAC	0.368000																								0							SO:0001583	missense			ENST00000361842.3	1	0	hg19	CCDS11080.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119519	0.56505	.	.	ENSG00000132530	ENST00000361842;ENST00000441631;ENST00000346752;ENST00000431790	T;T;T	0.19394	4.15;2.15;2.17	4.79	3.82	0.43975	.	0.415576	0.23340	N	0.049260	T	0.27967	0.0689	N	0.20986	0.625	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.73380	0.98;0.98;0.98;0.956;0.956	T	0.02539	-1.1144	10	0.46703	T	0.11	-21.6281	9.3008	0.37845	0.0:0.9044:0.0:0.0956	.	211;109;192;211;151	C9K044;Q6GPH4-6;Q6GPH4-2;Q6GPH4;B3KPW1	.;.;.;XAF1_HUMAN;.	S	211;211;192;109	ENSP00000354822:R211S;ENSP00000413199:R211S;ENSP00000341029:R192S	ENSP00000341029:R192S	R	+	1	0	XAF1	6614809	0.720000	0.27996	0.918000	0.36340	0.039000	0.13416	0.503000	0.22610	1.626000	0.50381	0.655000	0.94253	CGT		TCGA-S4-A8RP-01A-11D-A36O-08	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	1	0	0	13	382	0	40	0	7.198409e-01	0	75	0	40	2		0	0	0	0	0	2	1	0.999504	13	376	0	39	2		0	0	0	0	40	2	-3.034592	1	1	0	0		1	1	2	3	2.035207	0	0.520000	1.960000	0.521245	0.120000	0.060000	0.210000	0.120000	0.135670	0.120000	0	0.090000	0.170000
GAS7	8522	broad.mit.edu	37	17	9923135	9923135	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:9923135G>A	ENST00000432992.2	-	2	423	c.263C>T	c.(262-264)tCg>tTg	p.S88L	GAS7_ENST00000542249.1_Missense_Mutation_p.S24L|GAS7_ENST00000540214.1_Missense_Mutation_p.S24L|GAS7_ENST00000585266.1_Missense_Mutation_p.S28L|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000323816.4_Missense_Mutation_p.S28L|GAS7_ENST00000437099.2_Missense_Mutation_p.S24L|GAS7_ENST00000579158.1_Missense_Mutation_p.S24L|GAS7_ENST00000396115.2_Missense_Mutation_p.S24L	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7			39					GCCCTGAGGCGACAGGTAGCT	0.597000			T	MLL	AML*										Dom	yes		17	17p	8522	growth arrest-specific 7		L	0							SO:0001583	missense			ENST00000432992.2	1	1	hg19	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610775	0.87258	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000540214;ENST00000537970	T;D;D	0.83250	2.04;-1.7;-1.7	5.02	5.02	0.67125	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.68765	0.96;0.901;0.96	D	0.90263	0.4302	9	.	.	.	-21.8984	15.3829	0.74673	0.0:0.0:1.0:0.0	.	40;28;88	B7Z2L1;A8KAC2;O60861	.;.;GAS7_HUMAN	L	88;28;27;24;28	ENSP00000322608:S88L;ENSP00000379421:S28L;ENSP00000446214:S24L	.	S	-	2	0	GAS7	9863860	1.000000	0.71417	0.993000	0.49108	0.905000	0.53344	5.593000	0.67550	2.620000	0.88729	0.563000	0.77884	TCG		TCGA-S4-A8RP-01A-11D-A36O-08	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	1	0	1	47	171	0	41	0	9.012166e-01	0	17	0	41	2		0	0	0	0	0	2	1	1.000000	44	167	0	40	2		0	0	0	0	41	2	-20.000000	1	0	121412	3	36	1	1	2	3	2.035207	0	0.520000	1.960000	0.521245	0.820000	0.630000	1.000000	1.000000	0.834200	0.820000	0	0.720000	0.940000
CEP192	55125	broad.mit.edu	37	18	13100331	13100331	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:13100331G>T	ENST00000325971.8	+	36	6496	c.4903G>T	c.(4903-4905)Gat>Tat	p.D1635Y	CEP192_ENST00000430049.2_Missense_Mutation_p.D1756Y|CEP192_ENST00000506447.1_Missense_Mutation_p.D2231Y|CEP192_ENST00000540847.2_3'UTR			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa			71					AATTCGAGAAGATTTAACTCA	0.338000																								0							SO:0001583	missense			ENST00000325971.8	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.1	4.101103	0.76983	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.08458	3.09;3.09;3.1	5.52	5.52	0.82312	.	0.109070	0.64402	D	0.000005	T	0.29458	0.0734	M	0.68952	2.095	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.991;0.988;0.995	T	0.00337	-1.1807	10	0.87932	D	0	-25.0451	18.5764	0.91157	0.0:0.0:1.0:0.0	.	1756;2231;235;833	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	Y	2231;1635;1635;1756;235	ENSP00000427550:D2231Y;ENSP00000317156:D1635Y;ENSP00000389190:D1756Y	ENSP00000317156:D1635Y	D	+	1	0	CEP192	13090331	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.233000	0.58651	2.756000	0.94617	0.655000	0.94253	GAT		TCGA-S4-A8RP-01A-11D-A36O-08	CEP192-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	9	380	0	46	0	7.207054e-02	0	17	0	46	2		0	0	0	0	0	2	1	0.994001	8	376	0	45	2		0	0	0	0	46	2	-8.899888	1	1	0	0		1	1	2	3	2.067673	0	0.520000	1.960000	0.526160	0.090000	0.040000	1.000000	0.090000	0.133610	0.090000	0	0.060000	0.140000
SMAD4	4089	broad.mit.edu	37	18	48591891	48591891	+	Nonsense_Mutation	SNP	G	G	T	rs121912581		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:48591891G>T	ENST00000342988.3	+	9	1592	c.1054G>T	c.(1054-1056)Gga>Tga	p.G352*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			TACTGTTGATGGATACGTGGA	0.443000																								38	Whole gene deletion(36)|Unknown(2)	GRCh37	CM024126	SMAD4	M	rs121912581	SO:0001587	stop_gained			ENST00000342988.3	0	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	43	10.484127	0.99413	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.048668	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000341551:G352X	G	+	1	0	SMAD4	46845889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.676000	0.98643	2.771000	0.95319	0.563000	0.77884	GGA		TCGA-S4-A8RP-01A-11D-A36O-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	125	234	0	68	1	1	9	42	0	68	2	1	1	222	489	0	924	2	1	1.000000	123	233	0	68	2		0	0	0	0	68	2	-13.232870	1	1	0	0		1	0	1	1	1.521161	1	0.520000	1.960000	0.351351	0.940000	0.830000	1.000000	0.990000	0.941564	0.940000	1	0.890000	0.990000
ZNF516	9658	broad.mit.edu	37	18	74154961	74154961	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:74154961G>A	ENST00000443185.2	-	3	367	c.50C>T	c.(49-51)cCc>cTc	p.P17L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516			32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)			GGCCCTGGTGGGGCTGGGGCC	0.692000																								0							SO:0001583	missense			ENST00000443185.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.43	3.825265	0.71143	.	.	ENSG00000101493	ENST00000443185;ENST00000532857	T;T	0.11495	2.77;3.12	4.3	4.3	0.51218	.	0.095548	0.43919	D	0.000509	T	0.16514	0.0397	.	.	.	0.58432	D	0.999994	D	0.76494	0.999	D	0.64144	0.922	T	0.01757	-1.1280	9	0.02654	T	1	-13.6921	15.3131	0.74053	0.0:0.0:1.0:0.0	.	17	Q92618	ZN516_HUMAN	L	17	ENSP00000394757:P17L;ENSP00000446211:P17L	ENSP00000394757:P17L	P	-	2	0	ZNF516	72283949	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	5.885000	0.69736	2.106000	0.64143	0.561000	0.74099	CCC		TCGA-S4-A8RP-01A-11D-A36O-08	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	0	22	52	0	12	1	7.362017e-01	3	5	0	12	2		0	0	0	0	0	2	1	1.000000	19	51	0	11	2		0	0	0	0	12	2	-20.000000	1	1	0	0		1	0	1	1	1.521161	1	0.520000	1.960000	0.351351	0.800000	0.550000	0.980000	0.830000	0.802709	0.800000	0	0.670000	0.920000
PPAN	56342	broad.mit.edu	37	19	10220315	10220315	+	Silent	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:10220315G>T	ENST00000253107.7	+	6	628	c.522G>T	c.(520-522)ctG>ctT	p.L174L	PPAN-P2RY11_ENST00000393796.4_Silent_p.L174L|P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Silent_p.L174L|PPAN-P2RY11_ENST00000428358.1_Silent_p.L174L|PPAN_ENST00000393793.1_Silent_p.L121L|SNORD105_ENST00000386910.1_RNA|SNORD105B_ENST00000458770.1_RNA	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)			15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		AGGTGAACCTGAACACCATCA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000253107.7	0	1	hg19	CCDS12225.1																																																																																				TCGA-S4-A8RP-01A-11D-A36O-08	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	0	0	0	17	1437	0	267	0	2.556097e-01	0	79	0	267	2		0	0	0	0	0	2	1	0.999957	16	1411	0	266	2		0	0	0	0	267	2	-2.287386	0	1	0	0		1	1	2	3	2.033021	0	0.520000	1.960000	0.521245	0.040000	0.010000	0.080000	0.040000	0.047330	0.040000	0	0.020000	0.060000
PPAP2C	8612	broad.mit.edu	37	19	291323	291323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:291323C>T	ENST00000269812.3	-	1	63	c.14G>A	c.(13-15)tGg>tAg	p.W5*	PPAP2C_ENST00000327790.3_5'Flank|PPAP2C_ENST00000434325.2_Intron	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C			5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			CACGAAGACCCACCTCCGCTG	0.756000																								0							SO:0001587	stop_gained			ENST00000269812.3	0	1	hg19	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	c	36	5.704477	0.96812	.	.	ENSG00000141934	ENST00000269812	.	.	.	3.51	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	6.8058	0.23777	0.0:0.8261:0.0:0.1739	.	.	.	.	X	5	.	ENSP00000269812:W5X	W	-	2	0	PPAP2C	242323	0.980000	0.34600	1.000000	0.80357	0.754000	0.42855	-0.025000	0.12413	1.497000	0.48584	0.289000	0.19496	TGG		TCGA-S4-A8RP-01A-11D-A36O-08	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2	1	0	0	40	161	0	37	1	1	9	167	0	37	2		0	0	0	0	0	2	1	1.000000	40	158	0	37	2		0	0	0	0	37	2	-3.234261	1	1	0	0		1	1	2	3	2.168163	1	0.520000	1.960000	0.567256	0.890000	0.640000	1.000000	1.000000	0.885773	0.890000	1	0.750000	1.000000
NFKBIB	4793	broad.mit.edu	37	19	39398260	39398260	+	Silent	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:39398260C>T	ENST00000313582.5	+	5	964	c.930C>T	c.(928-930)ccC>ccT	p.P310P	NFKBIB_ENST00000392079.3_Silent_p.P278P|NFKBIB_ENST00000572515.1_Silent_p.P310P	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta			8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		AATCCGGCCCCTGCAGCAGCA	0.692000													Pancreas(165;1492 2005 6979 7739 34483)											0							SO:0001819	synonymous_variant			ENST00000313582.5	1	1	hg19	CCDS12524.1																																																																																				TCGA-S4-A8RP-01A-11D-A36O-08	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	1	0	0	25	56	0	14	1	1	21	57	0	14	2		0	0	0	0	0	2	1	1.000000	24	53	0	14	2		0	0	0	0	14	2	-20.000000	1	1	0	0		1	1	2	3	2.033021	0	0.520000	1.960000	0.521245	0.990000	0.820000	1.000000	1.000000	0.985623	0.990000	1	0.990000	1.000000
LRRC4B	94030	broad.mit.edu	37	19	51021095	51021095	+	Silent	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:51021095G>T	ENST00000599957.1	-	3	2072	c.1875C>A	c.(1873-1875)ccC>ccA	p.P625P	LRRC4B_ENST00000389201.3_Silent_p.P625P			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B			30		all_neural(266;0.131)			CCGAGGCGGCGGGCAGCTCGT	0.726000																								0							SO:0001819	synonymous_variant			ENST00000599957.1	1	1	hg19	CCDS42595.1																																																																																				TCGA-S4-A8RP-01A-11D-A36O-08	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	1	0	0	39	108	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1.000000	39	107	0	28	2		0	0	0	0	30	2	-4.588884	1	1	120148	1	30	1	1	2	3	2.045623	0	0.520000	1.960000	0.522483	0.990000	0.760000	1.000000	1.000000	0.959530	0.990000	1	0.880000	1.000000
CELSR2	1952	broad.mit.edu	37	1	109812124	109812124	+	Silent	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:109812124C>T	ENST00000271332.3	+	21	6952	c.6891C>T	c.(6889-6891)gcC>gcT	p.A2297A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2			82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)			TGCCCCGGGCCCTGGACAAAC	0.597000													NSCLC(158;1285 2011 34800 34852 42084)											0							SO:0001819	synonymous_variant			ENST00000271332.3	1	1	hg19	CCDS796.1																																																																																				TCGA-S4-A8RP-01A-11D-A36O-08	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	0	0	1	66	201	0	40	1	9.641100e-01	8	11	0	40	2		0	0	0	0	0	2	1	1.000000	66	200	0	39	2		0	0	0	0	40	2	-20.000000	1	1	0	0		1	1	2	3	2.040192	0	0.520000	1.960000	0.522483	0.950000	0.760000	1.000000	1.000000	0.936397	0.950000	1	0.850000	1.000000
WNT2B	7482	broad.mit.edu	37	1	113059836	113059836	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:113059836C>T	ENST00000369684.4	+	4	1260	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	WNT2B_ENST00000256640.5_Missense_Mutation_p.R167C|WNT2B_ENST00000369686.5_Missense_Mutation_p.R240C|RP4-671G15.2_ENST00000608357.1_RNA	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B			18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)			CTCAGATTTCCGCCGCACAGG	0.617000																								0							SO:0001583	missense			ENST00000369684.4	1	1	hg19	CCDS847.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659360	0.88154	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.78924	-1.22;-1.22;-1.22	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91593	0.7344	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.93785	0.7087	10	0.87932	D	0	.	19.0601	0.93090	0.0:1.0:0.0:0.0	.	259;240	Q93097;Q93097-2	WNT2B_HUMAN;.	C	167;240;259	ENSP00000256640:R167C;ENSP00000358700:R240C;ENSP00000358698:R259C	ENSP00000256640:R167C	R	+	1	0	WNT2B	112861359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.367000	0.52350	2.599000	0.87857	0.555000	0.69702	CGC		TCGA-S4-A8RP-01A-11D-A36O-08	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	1	0	1	67	222	0	44	0	6.548984e-01	0	9	0	44	2		0	0	0	0	0	2	1	1.000000	65	219	0	43	2		0	0	0	0	44	2	-3.920221	1	1	0	0		1	1	2	3	2.040192	0	0.520000	1.960000	0.522483	0.890000	0.710000	1.000000	1.000000	0.893684	0.890000	1	0.800000	1.000000
PRAMEF1	65121	broad.mit.edu	37	1	12855916	12855916	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:12855916G>A	ENST00000332296.7	+	4	1299	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1			35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)			GACCTGCTGCGCCACACCAGT	0.557000																								0							SO:0001583	missense			ENST00000332296.7	1	1	hg19	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	2.972	-0.212215	0.06140	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.49432	0.78;0.78	1.56	-0.674	0.11369	.	1.571450	0.04233	N	0.335492	T	0.30008	0.0751	L	0.27053	0.805	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.09357	-1.0678	10	0.12430	T	0.62	.	4.1186	0.10094	0.4747:0.0:0.5253:0.0	.	399	O95521	PRAM1_HUMAN	H	399;154	ENSP00000332134:R399H;ENSP00000383616:R154H	ENSP00000332134:R399H	R	+	2	0	PRAMEF1	12778503	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-2.135000	0.01306	-0.196000	0.10366	0.205000	0.17691	CGC		TCGA-S4-A8RP-01A-11D-A36O-08	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	1	0	0	133	297	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1.000000	107	153	0	162	2		0	0	0	0	109	2	-10.785790	1	0	121386	7	36	1	0	1	1	1.561689	1	0.520000	1.960000	0.360341	0.880000	0.760000	1.000000	0.890000	0.888973	0.880000	1	0.820000	0.950000
CELF3	11189	broad.mit.edu	37	1	151681757	151681757	+	Missense_Mutation	SNP	A	A	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:151681757A>C	ENST00000290583.4	-	4	1138	c.345T>G	c.(343-345)ttT>ttG	p.F115L	CELF3_ENST00000290585.4_Missense_Mutation_p.F115L|RIIAD1_ENST00000326413.3_5'Flank|CELF3_ENST00000392706.3_5'Flank|AL589765.1_ENST00000442233.2_5'Flank|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3			21					CGAAGGGCTCAAACATCTTCC	0.617000																								0							SO:0001583	missense			ENST00000290583.4	1	1	hg19	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.12|18.12	3.553835|3.553835	0.65425|0.65425	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000368833|ENST00000420342	T;T|.	0.43294|.	0.95;0.95|.	4.39|4.39	-2.57|-2.57	0.06248|0.06248	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60521|0.60521	0.2275|0.2275	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D;P;D;D;D|.	0.76494|.	0.977;0.945;0.999;0.985;0.981|.	D;P;D;P;P|.	0.87578|.	0.962;0.7;0.998;0.843;0.756|.	T|T	0.67345|0.67345	-0.5694|-0.5694	10|5	0.66056|.	D|.	0.02|.	-8.3106|-8.3106	9.4317|9.4317	0.38615|0.38615	0.5746:0.0:0.4254:0.0|0.5746:0.0:0.4254:0.0	.|.	115;115;114;115;114|.	Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3|.	.;.;.;CELF3_HUMAN;.|.	L|W	115;115;114|116	ENSP00000290585:F115L;ENSP00000290583:F115L|.	ENSP00000290583:F115L|.	F|L	-|-	3|2	2|0	CELF3|CELF3	149948381|149948381	0.649000|0.649000	0.27322|0.27322	0.994000|0.994000	0.49952|0.49952	0.570000|0.570000	0.35934|0.35934	-0.097000|-0.097000	0.11042|0.11042	-0.328000|-0.328000	0.08539|0.08539	-0.624000|-0.624000	0.04008|0.04008	TTT|TTG		TCGA-S4-A8RP-01A-11D-A36O-08	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	1	0	0	104	1167	0	178	0	6.412567e-01	0	26	0	178	2		0	0	0	0	0	2	1	1.000000	102	1150	0	177	2		0	0	0	0	178	2	-3.318794	1	1	0	0		1	0	4	4	2.346818	1	0.520000	1.960000	0.586635	0.370000	0.290000	1.000000	0.370000	0.498356	0.370000	0	0.330000	1.000000
TAS1R2	80834	broad.mit.edu	37	1	19166741	19166741	+	Silent	SNP	C	C	T	rs112760365		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:19166741C>T	ENST00000375371.3	-	6	1893	c.1872G>A	c.(1870-1872)ccG>ccA	p.P624P		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2			45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		Aspartame(DB00168)	AGACCTTGGGCGGCCCCACGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000375371.3	0	1	hg19	CCDS187.1																																																																																				TCGA-S4-A8RP-01A-11D-A36O-08	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	0	0	0	7	230	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	0.980473	7	228	0	55	2		0	0	0	0	56	2	-2.860462	1	1	121412	3	37	1	0	1	1	1.525079	1	0.520000	1.960000	0.353622	0.080000	0.030000	0.160000	0.080000	0.094868	0.080000	0	0.050000	0.130000
KDM5B	10765	broad.mit.edu	37	1	202724554	202724554	+	Missense_Mutation	SNP	C	C	A	rs76768289		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:202724554C>A	ENST00000367265.3	-	11	2547	c.1383G>T	c.(1381-1383)ttG>ttT	p.L461F	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B			6					GCATGTTGTTCAAATTCCAGC	0.378000																								0							SO:0001583	missense			ENST00000367265.3	0	1	hg19	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700822	0.68501	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.72505	-0.66;-0.66;-0.66	5.73	4.82	0.62117	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.93328	3.405	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.961;0.999	D	0.88022	0.2769	10	0.87932	D	0	-12.7178	9.1277	0.36826	0.0:0.7688:0.0:0.2312	.	497;461	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	461;303;497;303	ENSP00000356234:L461F;ENSP00000356233:L497F;ENSP00000235790:L303F	ENSP00000235790:L303F	L	-	3	2	KDM5B	200991177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.022000	0.41030	1.425000	0.47237	0.655000	0.94253	TTG		TCGA-S4-A8RP-01A-11D-A36O-08	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	0	0	0	20	642	0	70	0	4.654317e-01	1	49	0	70	2		0	0	0	0	0	2	1	0.999993	17	625	0	68	2		0	0	0	0	70	2	-1.775111	0	1	121390	23	41	1	0	5	5	2.415055	1	0.520000	1.960000	0.598326	0.140000	0.080000	1.000000	0.140000	0.298545	0.140000	0	0.110000	1.000000
MACF1	23499	broad.mit.edu	37	1	39951311	39951311	+	Silent	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:39951311T>C	ENST00000372915.3	+	97	22099	c.22012T>C	c.(22012-22014)Tta>Cta	p.L7338L	MACF1_ENST00000564288.1_Silent_p.L7505L|MACF1_ENST00000289893.4_Silent_p.L5888L|MACF1_ENST00000361689.2_Silent_p.L5380L|MACF1_ENST00000539005.1_Silent_p.L5250L|MACF1_ENST00000567887.1_Silent_p.L7542L|MACF1_ENST00000317713.7_Silent_p.L5380L|MACF1_ENST00000545844.1_Silent_p.L5380L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CTTTGACCTCTTAGAGACGCA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000372915.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	4.373	0.068714	0.08436	.	.	ENSG00000127603	ENST00000372925;ENST00000446276	T;T	0.67865	1.42;-0.29	5.28	-1.78	0.07957	.	0.000000	0.44483	D	0.000443	T	0.59622	0.2207	.	.	.	0.30229	N	0.796068	.	.	.	.	.	.	T	0.59925	-0.7362	6	.	.	.	.	11.6204	0.51115	0.0:0.7097:0.0:0.2903	.	.	.	.	P	4383;404	ENSP00000362016:L4383P;ENSP00000391512:L404P	.	L	+	2	0	MACF1	39723898	0.036000	0.19791	0.951000	0.38953	0.993000	0.82548	0.258000	0.18387	-0.143000	0.11334	0.533000	0.62120	CTT		TCGA-S4-A8RP-01A-11D-A36O-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	0	71	208	1	44	1	1	99	221	1	44	22	1	1	310	915	0	1161	2	1	1.000000	69	206	1	44	19		0	0	0	1	44	2	-20.000000	1	1	0	0		1	1	2	3	2.040192	0	0.520000	1.960000	0.522483	0.980000	0.790000	1.000000	1.000000	0.953641	0.980000	1	0.880000	1.000000
DOCK7	85440	broad.mit.edu	37	1	62970389	62970389	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:62970389C>A	ENST00000340370.5	-	36	4600	c.4583G>T	c.(4582-4584)cGa>cTa	p.R1528L	DOCK7_ENST00000251157.5_Missense_Mutation_p.R1550L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7			92					GCTACAGTGTCGGAGAAGCCT	0.413000																								0							SO:0001583	missense			ENST00000340370.5	1	0	hg19	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151238	0.94645	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	T;T	0.64085	-0.08;-0.08	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;0.974;0.973	D;D;D;D;P;P	0.91635	0.981;0.973;0.999;0.999;0.851;0.907	D	0.84445	0.0585	10	0.72032	D	0.01	.	18.6147	0.91299	0.0:1.0:0.0:0.0	.	1559;1550;1528;1519;1519;1550	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	DOCK7_HUMAN;.;.;.;.;.	L	1559;1550;1528;289	ENSP00000251157:R1550L;ENSP00000340742:R1528L	ENSP00000251157:R1550L	R	-	2	0	DOCK7	62742977	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.814000	0.86154	2.398000	0.81561	0.655000	0.94253	CGA		TCGA-S4-A8RP-01A-11D-A36O-08	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	1	0	0	12	288	0	37	0	3.826640e-01	0	31	0	37	2		0	0	0	0	0	2	1	0.999131	12	286	0	37	2		0	0	0	0	37	2	-4.228586	1	1	0	0		1	1	2	3	2.040192	0	0.520000	1.960000	0.522483	0.150000	0.080000	0.280000	0.160000	0.174088	0.150000	0	0.110000	0.210000
DCTN1	1639	broad.mit.edu	37	2	74597120	74597120	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:74597120C>T	ENST00000361874.3	-	13	1681	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	DCTN1_ENST00000409240.1_Missense_Mutation_p.R418H|DCTN1_ENST00000407639.2_Missense_Mutation_p.R321H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R435H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R438H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R321H|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000394003.3_Missense_Mutation_p.R448H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1			45					CCTCAACTCGCGCACTTTCTC	0.537000																								0							SO:0001583	missense			ENST00000361874.3	1	1	hg19	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327848	0.95733	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78707	-1.09;-1.09;-1.09;-1.09;-1.09;-1.2;-1.09	5.65	5.65	0.86999	.	0.000000	0.39615	N	0.001313	D	0.86062	0.5843	L	0.55834	1.745	0.80722	D	1	P;D;D;P;P;D	0.76494	0.745;0.999;0.999;0.522;0.678;0.999	B;P;D;B;B;D	0.78314	0.109;0.902;0.98;0.129;0.254;0.991	D	0.86070	0.1537	10	0.56958	D	0.05	-10.1178	18.4958	0.90864	0.0:1.0:0.0:0.0	.	435;418;455;448;321;321	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	H	455;448;438;321;321;418;438;435	ENSP00000354791:R455H;ENSP00000377571:R448H;ENSP00000384844:R321H;ENSP00000387270:R321H;ENSP00000386406:R418H;ENSP00000387327:R438H;ENSP00000386843:R435H	ENSP00000354791:R455H	R	-	2	0	DCTN1	74450628	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.615000	0.83006	2.659000	0.90383	0.655000	0.94253	CGC		TCGA-S4-A8RP-01A-11D-A36O-08	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	1	0	1	114	384	0	80	1	1	41	176	0	80	2		0	0	0	0	0	2	1	1.000000	112	372	0	80	2		0	0	0	0	80	2	-20.000000	1	0	121412	3	38	1	0	0	0	2.004695	0	0.520000	1.960000	0.517491	0.870000	0.730000	1.000000	1.000000	0.876787	0.870000	1	0.800000	0.950000
SETMAR	6419	broad.mit.edu	37	3	4345079	4345079	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:4345079A>G	ENST00000358065.4	+	1	92	c.25A>G	c.(25-27)Aca>Gca	p.T9A	SETMAR_ENST00000430981.1_Missense_Mutation_p.T9A|SETMAR_ENST00000425863.1_Missense_Mutation_p.T9A|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene			9		Melanoma(143;0.0657)			GGCAAAGACGACACGGCCTTG	0.647000								Chromatin Structure																0							SO:0001583	missense			ENST00000358065.4	1	1	hg19	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	A	10.03	1.238717	0.22711	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863	D;D;T	0.95001	-3.52;-3.58;0.6	2.53	1.28	0.21552	.	.	.	.	.	D	0.85673	0.5751	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.71735	-0.4503	7	0.07644	T	0.81	.	5.2353	0.15443	0.6963:0.3037:0.0:0.0	.	.	.	.	A	9	ENSP00000373354:T9A;ENSP00000403000:T9A;ENSP00000403145:T9A	ENSP00000373354:T9A	T	+	1	0	SETMAR	4320079	0.012000	0.17670	0.000000	0.03702	0.002000	0.02628	0.084000	0.14891	0.084000	0.17077	0.482000	0.46254	ACA		TCGA-S4-A8RP-01A-11D-A36O-08	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	1	0	1	12	37	0	10	0	6.162891e-01	1	7	0	10	2		0	0	0	0	0	2	1	0.999364	12	36	0	10	2		0	0	0	0	10	2	-19.999950	1	1	0	0		1	0	0	0	2.011262	0	0.520000	1.960000	0.517491	0.930000	0.540000	1.000000	1.000000	0.885546	0.930000	1	0.720000	1.000000
NEK1	4750	broad.mit.edu	37	4	170327820	170327820	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr4:170327820G>T	ENST00000439128.2	-	30	3857	c.3217C>A	c.(3217-3219)Cgt>Agt	p.R1073S	NEK1_ENST00000512193.1_Missense_Mutation_p.R1004S|NEK1_ENST00000511633.1_Missense_Mutation_p.R1057S|NEK1_ENST00000510533.1_Missense_Mutation_p.R1029S|NEK1_ENST00000507142.1_Missense_Mutation_p.R1101S	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1			45		Prostate(90;0.00601)|Renal(120;0.0183)			TTGTCTTGACGAACATCTCCT	0.343000																								0							SO:0001583	missense			ENST00000439128.2	1	0	hg19	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	G	5.931	0.355845	0.11239	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.03	2.21	0.28008	.	1.020820	0.07793	N	0.955279	T	0.29458	0.0734	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.31625	0.034;0.332;0.067;0.332;0.006	B;B;B;B;B	0.30495	0.054;0.116;0.054;0.116;0.015	T	0.24154	-1.0168	10	0.13108	T	0.6	.	6.2799	0.21001	0.2397:0.1331:0.6273:0.0	.	1004;1057;1101;1029;1073	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	S	1073;1057;1029;1101;1004	ENSP00000408020:R1073S;ENSP00000423332:R1057S;ENSP00000427653:R1029S;ENSP00000424757:R1101S;ENSP00000424938:R1004S	ENSP00000408020:R1073S	R	-	1	0	NEK1	170564395	0.856000	0.29760	0.005000	0.12908	0.071000	0.16799	3.304000	0.51866	0.566000	0.29273	0.591000	0.81541	CGT		TCGA-S4-A8RP-01A-11D-A36O-08	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3	1	0	0	8	201	0	27	0	9.396337e-02	0	12	0	27	2		0	0	0	0	0	2	1	0.988718	7	197	0	27	2		0	0	0	0	27	2	-2.924718	1	1	0	0		1	1	2	3	2.047020	0	0.520000	1.960000	0.522483	0.150000	0.060000	0.300000	0.140000	0.172375	0.150000	0	0.100000	0.220000
LIMCH1	22998	broad.mit.edu	37	4	41615603	41615603	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr4:41615603G>T	ENST00000313860.7	+	7	661	c.607G>T	c.(607-609)Gac>Tac	p.D203Y	LIMCH1_ENST00000509638.1_Missense_Mutation_p.D44Y|LIMCH1_ENST00000514096.1_Missense_Mutation_p.D56Y|LIMCH1_ENST00000509454.1_Missense_Mutation_p.D51Y|LIMCH1_ENST00000509277.1_Missense_Mutation_p.D49Y|LIMCH1_ENST00000508501.1_Missense_Mutation_p.D203Y|LIMCH1_ENST00000396595.3_Missense_Mutation_p.D49Y|LIMCH1_ENST00000512820.1_Missense_Mutation_p.D203Y|LIMCH1_ENST00000512632.1_Missense_Mutation_p.D203Y|LIMCH1_ENST00000381753.4_Missense_Mutation_p.D49Y|LIMCH1_ENST00000512946.1_Missense_Mutation_p.D203Y|LIMCH1_ENST00000513024.1_Missense_Mutation_p.D44Y|LIMCH1_ENST00000503057.1_Missense_Mutation_p.D44Y|LIMCH1_ENST00000511496.1_Missense_Mutation_p.D44Y	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1			41					TGATTCCTTCGACAGCCTGGA	0.552000																								0							SO:0001583	missense			ENST00000313860.7	1	0	hg19	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197899	0.94997	.	.	ENSG00000064042	ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000446625;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000509454;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.14;0.61;0.6;0.61;0.07;0.55;-0.25;0.01;-0.16;-0.16;0.01;-0.15	5.59	5.59	0.84812	.	0.044471	0.85682	D	0.000000	T	0.82240	0.4994	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;0.999;0.999	D	0.83535	0.0093	10	0.87932	D	0	-23.1392	19.5966	0.95541	0.0:0.0:1.0:0.0	.	49;203;49;49;51;44;44;203;203;203;203	E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;Q6NVB9;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	Y	44;44;203;203;203;203;203;44;44;44;43;56;49;51;49;49	ENSP00000425222:D44Y;ENSP00000424825:D203Y;ENSP00000424645:D203Y;ENSP00000316891:D203Y;ENSP00000427045:D203Y;ENSP00000424437:D203Y;ENSP00000425631:D44Y;ENSP00000421242:D44Y;ENSP00000426334:D56Y;ENSP00000422864:D49Y;ENSP00000379840:D49Y;ENSP00000371172:D49Y	ENSP00000316891:D203Y	D	+	1	0	LIMCH1	41310360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.622000	0.88805	0.561000	0.74099	GAC		TCGA-S4-A8RP-01A-11D-A36O-08	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	1	0	0	15	288	0	45	0	1.865243e-01	0	15	0	45	2		0	0	0	0	0	2	1	0.999876	16	285	0	45	2		0	0	0	0	45	2	-4.867502	1	1	0	0		1	1	2	3	2.047020	0	0.520000	1.960000	0.522483	0.190000	0.110000	0.320000	0.190000	0.210020	0.190000	0	0.140000	0.250000
PHF15	0	broad.mit.edu	37	5	133914244	133914244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:133914244C>A	ENST00000282605.4	+	12	1828	c.1742C>A	c.(1741-1743)tCg>tAg	p.S581*	PHF15_ENST00000361895.2_Nonsense_Mutation_p.S538*|PHF15_ENST00000395003.1_Nonsense_Mutation_p.S537*|PHF15_ENST00000402835.1_3'UTR								22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CTGGCACAGTCGGTGCAGATC	0.607000																								0							SO:0001587	stop_gained			ENST00000282605.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	c	38	7.004263	0.97994	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	.	.	.	5.07	5.07	0.68467	.	0.654761	0.14755	N	0.300363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4569	0.90724	0.0:1.0:0.0:0.0	.	.	.	.	X	581;597;581;538;538;537	.	ENSP00000282605:S581X	S	+	2	0	PHF15	133942143	1.000000	0.71417	0.926000	0.36857	0.861000	0.49209	5.489000	0.66875	2.367000	0.80283	0.306000	0.20318	TCG		TCGA-S4-A8RP-01A-11D-A36O-08	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1	0	0	0	8	555	0	92	0	1.751833e-01	0	47	0	92	2		0	0	0	0	0	2	1	0.988736	7	548	0	92	2		0	0	0	0	92	2	-2.462800	0	1	0	0		1	0	3	3	2.192983	1	0.520000	1.960000	0.577167	0.070000	0.020000	1.000000	0.070000	0.294825	0.070000	0	0.040000	1.000000
HTR1A	3350	broad.mit.edu	37	5	63257207	63257207	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:63257207C>T	ENST00000323865.3	-	1	573	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled			56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACGTCGAGGGCGATGAACAGG	0.607000																								0							SO:0001583	missense			ENST00000323865.3	0	1	hg19	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747595	0.49257	.	.	ENSG00000178394	ENST00000323865	T	0.37752	1.18	5.12	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.060603	0.64402	D	0.000002	T	0.22044	0.0531	N	0.25426	0.745	0.41085	D	0.985551	P	0.41848	0.763	B	0.35655	0.207	T	0.03148	-1.1067	10	0.26408	T	0.33	.	12.99	0.58614	0.752:0.2479:0.0:0.0	.	114	P08908	5HT1A_HUMAN	T	114	ENSP00000316244:A114T	ENSP00000316244:A114T	A	-	1	0	HTR1A	63292963	0.996000	0.38824	0.989000	0.46669	0.928000	0.56348	2.510000	0.45468	0.399000	0.25367	0.561000	0.74099	GCC		TCGA-S4-A8RP-01A-11D-A36O-08	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	1	0	1	15	82	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	0.999894	14	81	0	15	2		0	0	0	0	15	2	-19.999990	1	1	0	0		1	0	1	1	1.689880	1	0.520000	1.960000	0.418745	0.490000	0.290000	0.730000	0.480000	0.506042	0.490000	0	0.380000	0.620000
HBS1L	10767	broad.mit.edu	37	6	135300380	135300380	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:135300380C>A	ENST00000367837.5	-	14	1830	c.1624G>T	c.(1624-1626)Gac>Tac	p.D542Y	HBS1L_ENST00000445176.2_Missense_Mutation_p.D266Y|HBS1L_ENST00000367826.2_Missense_Mutation_p.D500Y|HBS1L_ENST00000527578.1_Missense_Mutation_p.D378Y|HBS1L_ENST00000415177.2_Missense_Mutation_p.D477Y|HBS1L_ENST00000367824.4_Missense_Mutation_p.D378Y	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase			20	Colorectal(23;0.221)				GCCGCCCAGTCGACAGGTTCA	0.428000																								0							SO:0001583	missense			ENST00000367837.5	1	0	hg19	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248542	0.59103	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.72	5.72	0.89469	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.088162	0.85682	D	0.000000	D	0.87605	0.6219	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	D	0.90934	0.4792	10	0.72032	D	0.01	-31.4881	19.8674	0.96824	0.0:1.0:0.0:0.0	.	500;542	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	Y	542;378;477;500;378;412;266	ENSP00000356811:D542Y;ENSP00000436256:D378Y;ENSP00000389826:D477Y;ENSP00000356800:D500Y;ENSP00000356798:D378Y;ENSP00000434533:D412Y;ENSP00000415305:D266Y	ENSP00000356798:D378Y	D	-	1	0	HBS1L	135342073	1.000000	0.71417	0.496000	0.27539	0.109000	0.19521	7.666000	0.83877	2.690000	0.91761	0.655000	0.94253	GAC		TCGA-S4-A8RP-01A-11D-A36O-08	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2	1	0	0	8	139	0	32	0	6.802806e-01	0	41	0	32	2		0	0	0	0	0	2	1	0.990001	10	137	0	31	2		0	0	0	0	32	2	-11.271480	1	0	0	0		1	0	1	1	1.504111	1	0.520000	1.960000	0.351351	0.150000	0.070000	0.280000	0.150000	0.169764	0.150000	0	0.110000	0.220000
ZNF451	26036	broad.mit.edu	37	6	57018799	57018799	+	Silent	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:57018799A>G	ENST00000370706.4	+	13	3268	c.3024A>G	c.(3022-3024)ggA>ggG	p.G1008G	RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000491832.2_Silent_p.G1008G|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Silent_p.G960G	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451			32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		ACTTAGAGGGAGATATGATGT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000370706.4	1	1	hg19	CCDS43477.1																																																																																				TCGA-S4-A8RP-01A-11D-A36O-08	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	1	0	1	105	331	0	62	1	9.747737e-01	7	14	0	62	2		0	0	0	0	0	2	1	1.000000	104	324	0	62	2		0	0	0	0	62	2	-20.000000	1	1	0	0		1	0	0	0	2.004149	0	0.520000	1.960000	0.517491	0.910000	0.760000	1.000000	1.000000	0.916721	0.910000	1	0.840000	1.000000
RELN	5649	broad.mit.edu	37	7	103132427	103132427	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:103132427A>G	ENST00000428762.1	-	58	9575	c.9416T>C	c.(9415-9417)gTa>gCa	p.V3139A	RELN_ENST00000424685.2_Missense_Mutation_p.V3139A|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.V3139A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					TTCCAGCATTACGGAATGAAG	0.363000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001583	missense			ENST00000428762.1	1	1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.658140	0.88154	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.34472	1.36;1.36;1.36	5.93	5.93	0.95920	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.76170	2.325	0.58432	D	0.999999	D;B	0.55800	0.973;0.34	D;B	0.63957	0.92;0.224	T	0.63812	-0.6552	10	0.87932	D	0	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	3139;3139	P78509-2;P78509	.;RELN_HUMAN	A	3139;3139;3139;656;3139	ENSP00000392423:V3139A;ENSP00000345694:V3139A;ENSP00000388446:V3139A	ENSP00000345694:V3139A	V	-	2	0	RELN	102919663	1.000000	0.71417	0.843000	0.33291	0.866000	0.49608	8.558000	0.90704	2.271000	0.75665	0.459000	0.35465	GTA		TCGA-S4-A8RP-01A-11D-A36O-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	0	54	179	0	36	0	1.398933e-01	0	3	0	36	2		0	0	0	0	0	2	1	1.000000	54	175	0	36	2		0	0	0	0	36	2	-20.000000	1	1	0	0		1	0	0	0	2.017447	0	0.520000	1.960000	0.520000	0.880000	0.690000	1.000000	1.000000	0.886732	0.880000	1	0.780000	1.000000
PRSS1	5644	broad.mit.edu	37	7	142458439	142458439	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:142458439T>C	ENST00000311737.7	+	2	80	c.74T>C	c.(73-75)gTt>gCt	p.V25A	PRSS1_ENST00000486171.1_Missense_Mutation_p.V25A	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)			38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)	Aprotinin(DB06692)	GACAAGATCGTTGGGGGCTAC	0.547000																								0							SO:0001583	missense			ENST00000311737.7	1	1	hg19	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291402	0.40494	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.94457	-3.43;-3.43	3.49	2.29	0.28610	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.057642	0.64402	D	0.000001	D	0.96457	0.8844	M	0.84773	2.715	0.42968	D	0.994423	P	0.38677	0.642	P	0.56960	0.81	D	0.95576	0.8642	10	0.87932	D	0	.	8.5187	0.33262	0.1739:0.0:0.0:0.8261	.	25	P07477	TRY1_HUMAN	A	25	ENSP00000417854:V25A;ENSP00000308720:V25A	ENSP00000308720:V25A	V	+	2	0	PRSS1	142138013	1.000000	0.71417	0.919000	0.36401	0.005000	0.04900	4.922000	0.63404	0.484000	0.27630	-0.794000	0.03295	GTT		TCGA-S4-A8RP-01A-11D-A36O-08	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2	1	0	0	99	955	0	129	1	1	28	2367	0	129	2	1	9.999197e-01	4	124	0	99	2	1	1.000000	45	756	0	138	2		0	0	0	0	129	2	-20.000000	1	0	121412	2	39	1	0	0	0	2.017447	0	0.520000	1.960000	0.520000	0.350000	0.290000	0.430000	0.360000	0.363888	0.350000	0	0.320000	0.400000
NUB1	51667	broad.mit.edu	37	7	151046243	151046243	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:151046243A>G	ENST00000355851.4	+	3	279	c.202A>G	c.(202-204)Att>Gtt	p.I68V	NUB1_ENST00000568733.1_Missense_Mutation_p.I92V|NUB1_ENST00000413040.2_Missense_Mutation_p.I92V|NUB1_ENST00000566856.1_Missense_Mutation_p.I68V	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1			11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)		TTGCAAGGCAATTGAGCGTGG	0.368000																								0							SO:0001583	missense			ENST00000355851.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	11.23	1.576657	0.28092	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000470229;ENST00000490215;ENST00000483358	T;T;T	0.42900	0.96;0.96;0.96	5.95	2.18	0.27775	.	0.222920	0.47093	N	0.000249	T	0.23249	0.0562	N	0.25201	0.72	0.35458	D	0.7963	B;B;B	0.24092	0.097;0.002;0.004	B;B;B	0.18263	0.021;0.002;0.004	T	0.19976	-1.0289	10	0.14252	T	0.57	-16.5287	8.2332	0.31610	0.7526:0.0:0.2474:0.0	.	68;68;68	F8WDL9;Q9Y5A7;Q9Y5A7-2	.;NUB1_HUMAN;.	V	68	ENSP00000348110:I68V;ENSP00000418234:I68V;ENSP00000420086:I68V	ENSP00000348110:I68V	I	+	1	0	NUB1	150677176	0.995000	0.38212	0.991000	0.47740	0.997000	0.91878	1.119000	0.31258	0.131000	0.18576	0.533000	0.62120	ATT		TCGA-S4-A8RP-01A-11D-A36O-08	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	125	350	0	80	1	1	21	70	0	80	2		0	0	0	0	0	2	1	1.000000	125	344	0	78	2		0	0	0	0	80	2	-20.000000	1	1	0	0		1	1	2	3	2.043668	0	0.520000	1.960000	0.522483	0.990000	0.860000	1.000000	1.000000	0.977843	0.990000	1	0.930000	1.000000
SCRIB	23513	broad.mit.edu	37	8	144891881	144891881	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:144891881C>T	ENST00000320476.3	-	14	1544	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	SCRIB_ENST00000356994.2_Missense_Mutation_p.R513Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.R432Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein			42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		GGCACTCAGCCGCTTCTCCTG	0.687000													Pancreas(51;966 1133 10533 14576 29674)											0							SO:0001583	missense			ENST00000320476.3	1	1	hg19	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.351523	0.41700	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.78924	-1.22;-1.22;-1.22	4.54	3.64	0.41730	.	.	.	.	.	T	0.80649	0.4663	L	0.47716	1.5	0.46396	D	0.999022	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.74722	-0.3569	9	0.11485	T	0.65	.	11.3811	0.49757	0.0:0.9096:0.0:0.0904	.	513;513	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	513;513;432	ENSP00000349486:R513Q;ENSP00000322938:R513Q;ENSP00000366756:R432Q	ENSP00000322938:R513Q	R	-	2	0	SCRIB	144963869	1.000000	0.71417	0.892000	0.35008	0.125000	0.20455	4.335000	0.59298	2.249000	0.74217	0.401000	0.26515	CGG		TCGA-S4-A8RP-01A-11D-A36O-08	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	1	0	1	59	255	0	50	1	9.999779e-01	17	54	0	50	2		0	0	0	0	0	2	1	1.000000	59	250	0	49	2		0	0	0	0	50	2	-20.000000	1	1	121316	13	40	1	0	3	3	2.531440	1	0.520000	1.960000	0.619048	0.900000	0.710000	1.000000	1.000000	0.903893	0.900000	1	0.800000	1.000000
NONO	4841	broad.mit.edu	37	X	70517747	70517747	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:70517747C>T	ENST00000276079.8	+	9	1295	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	NONO_ENST00000535149.1_Missense_Mutation_p.R275W|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.R364W|NONO_ENST00000373841.1_Missense_Mutation_p.R364W	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding		NONO/TFE3(2)	19	Renal(35;0.156)				AGAAATGATGCGGCGACAGCA	0.512000			T	TFE3	papillary renal cancer										Dom	yes		X	Xq13.1	4841	non-POU domain containing, octamer-binding		E	0							SO:0001583	missense			ENST00000276079.8	0	1	hg19	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	c	16.85	3.235855	0.58886	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.31510	1.54;1.49;1.49;1.49	5.23	4.35	0.52113	.	0.050066	0.85682	D	0.000000	T	0.50548	0.1622	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	P	0.62089	0.898	T	0.54576	-0.8273	10	0.87932	D	0	-11.2943	11.2281	0.48897	0.5288:0.4712:0.0:0.0	.	364	Q15233	NONO_HUMAN	W	275;364;364;364	ENSP00000441364:R275W;ENSP00000276079:R364W;ENSP00000362963:R364W;ENSP00000362947:R364W	ENSP00000276079:R364W	R	+	1	2	NONO	70434472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.256000	0.51492	1.145000	0.42336	0.529000	0.55759	CGG		TCGA-S4-A8RP-01A-11D-A36O-08	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	0	0	0	5	133	0	19	1	9.992967e-01	4	471	0	19	2		0	0	0	0	0	2	1	0.936303	5	131	0	19	2		0	0	0	0	19	2	-2.908823	1	1	0	0		1	0	1	1			0.520000	1.960000	0.520000	0.140000	0.050000	0.300000	0.140000	0.163724	0.140000	0	0.090000	0.220000
