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
WFIKKN2	124857	broad.mit.edu	37	17	48917574	48917580	+	Frame_Shift_Del	DEL	CAGGCTG	CAGGCTG	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:48917574_48917580delCAGGCTG	ENST00000311378.4	+	2	1453_1459	c.925_931delCAGGCTG	c.(925-933)caggctgcafs	p.QAA309fs	WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.QAA216fs|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	p.A311S(1)		29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		CAGGGGTCATCAGGCTGCAGCCACCTC	0.657000																								1	Substitution - Missense(1)						SO:0001589	frameshift_variant			ENST00000311378.4	1	1	hg19	CCDS11575.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	1	0	0	25	294	0	122	0	0	0	0	0	0		0	0	0	0	0	0		1	0.363067	36	302	7	128	30	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.053906	0	0.300000	1.870000	0.304175	0.530000	0.350000	1.000000	0.530000	0.552593	0.530000	0	4.300000e-01	6.500000e-01
MUC16	94025	broad.mit.edu	37	19	9086442	9086457	+	Frame_Shift_Del	DEL	GCTGGACTCTGTCCTT	GCTGGACTCTGTCCTT	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:9086442_9086457delGCTGGACTCTGTCCTT	ENST00000397910.4	-	1	5561_5576	c.5358_5373delAAGGACAGAGTCCAGC	c.(5356-5373)gcaaggacagagtccagcfs	p.ARTESS1786fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					GGGTAGCTGAGCTGGACTCTGTCCTTGCTGAAGACT	0.468000																								0							SO:0001589	frameshift_variant			ENST00000397910.4	0	1	hg19	CCDS54212.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	0	30	359	0	67	0	0	0	0	0	0		0	0	0	0	0	0		1	0.490149	63	388	3	69	36	0	0	0	0	0	0		-9.043442	1	1	0	0		1	0	0	0	2.018298	0	0.300000	1.870000	0.291498	0.500000	0.350000	0.690000	0.500000	0.518962	0.500000	0	4.200000e-01	6.000000e-01
PDCD11	22984	broad.mit.edu	37	10	105158241	105158241	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:105158241G>C	ENST00000369797.3	+	2	152	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	USMG5_ENST00000369825.1_5'Flank|USMG5_ENST00000369815.1_5'Flank|USMG5_ENST00000369811.1_5'Flank|USMG5_ENST00000337003.4_5'Flank|USMG5_ENST00000309579.3_5'Flank	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11			64		Colorectal(252;0.0747)|Breast(234;0.128)			CCACAAACCAGAGAAAGCTTT	0.418000																								0							SO:0001583	missense			ENST00000369797.3	1	1	hg19	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462398	0.43736	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.13420	2.59	5.3	5.3	0.74995	.	0.452187	0.25628	N	0.029371	T	0.17619	0.0423	M	0.69523	2.12	0.26868	N	0.967807	B	0.32620	0.378	B	0.36289	0.221	T	0.11842	-1.0571	10	0.29301	T	0.29	-23.9668	9.3697	0.38246	0.1602:0.0:0.8398:0.0	.	20	Q14690	RRP5_HUMAN	Q	20	ENSP00000358812:E20Q	ENSP00000358812:E20Q	E	+	1	0	PDCD11	105148231	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.614000	0.61183	2.499000	0.84300	0.555000	0.69702	GAG		TCGA-3A-A9I9-01A-11D-A38G-08	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	1	0	1	34	175	0	81	0	6.090767e-01	1	11	0	81	2		0	0	0	0	0	2	1	1.000000	34	171	0	81	2		0	0	0	0	81	2	-20.000000	1	1	0	0		1	1	2	3	2.064640	0	0.300000	1.870000	0.305211	0.990000	0.780000	1.000000	1.000000	0.973968	0.990000	1	9.300000e-01	1
MKI67	4288	broad.mit.edu	37	10	129903384	129903384	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:129903384C>G	ENST00000368654.3	-	13	7095	c.6720G>C	c.(6718-6720)aaG>aaC	p.K2240N	MKI67_ENST00000368653.3_Missense_Mutation_p.K1880N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			TGAGACTTCTCTTGGACTGTG	0.498000																								0							SO:0001583	missense			ENST00000368654.3	1	1	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061815	0.36373	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03635	3.86;3.86	3.07	2.15	0.27550	.	0.672301	0.12961	N	0.425010	T	0.12433	0.0302	M	0.68952	2.095	0.09310	N	1	D;D;D	0.76494	0.991;0.992;0.999	P;D;D	0.72982	0.8;0.921;0.979	T	0.12066	-1.0562	10	0.30078	T	0.28	.	8.7284	0.34483	0.0:0.8779:0.0:0.1221	.	2239;1880;2240	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	2240;1880;2239	ENSP00000357643:K2240N;ENSP00000357642:K1880N	ENSP00000357642:K1880N	K	-	3	2	MKI67	129793374	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.058000	0.14301	1.716000	0.51395	0.561000	0.74099	AAG		TCGA-3A-A9I9-01A-11D-A38G-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	1	226	1167	0	335	1	7.578585e-01	8	8	0	335	2		0	0	0	0	0	2	1	1.000000	219	1126	0	325	2		0	0	0	0	335	2	-20.000000	1	1	0	0		1	0	0	0	2.005016	0	0.300000	1.870000	0.287169	0.990000	0.930000	1.000000	1.000000	0.994600	0.990000	1	9.900000e-01	1
ARHGAP21	57584	broad.mit.edu	37	10	24908567	24908567	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:24908567G>A	ENST00000396432.2	-	9	2743	c.2257C>T	c.(2257-2259)Cat>Tat	p.H753Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H540Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21			78					TAAGACTGATGCCTTAAAGGC	0.473000																								0							SO:0001583	missense			ENST00000396432.2	1	1	hg19	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307576	0.81247	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.1	5.1	0.69264	.	0.162808	0.53938	D	0.000044	T	0.64560	0.2609	M	0.70595	2.14	0.42876	D	0.994156	D;D	0.64830	0.989;0.994	P;P	0.57152	0.814;0.656	T	0.67925	-0.5544	10	0.54805	T	0.06	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	743;752	F8W9U9;Q5T5U3	.;RHG21_HUMAN	Y	753;540;743;753;588	ENSP00000379709:H753Y;ENSP00000365604:H540Y;ENSP00000365592:H743Y;ENSP00000405018:H753Y	ENSP00000365604:H540Y	H	-	1	0	ARHGAP21	24948573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.340000	0.97038	2.509000	0.84616	0.655000	0.94253	CAT		TCGA-3A-A9I9-01A-11D-A38G-08	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	1	0	1	75	482	0	162	1	4.970817e-01	4	8	0	162	2		0	0	0	0	0	2	1	1.000000	72	468	0	160	2		0	0	0	0	162	2	-20.000000	1	1	121412	1	31	1	0	1	1	2.031517	0	0.300000	1.870000	0.297894	0.890000	0.710000	1.000000	1.000000	0.891799	0.890000	1	7.900000e-01	9.900000e-01
CDH23	64072	broad.mit.edu	37	10	73377087	73377087	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:73377087C>T	ENST00000224721.6	+	10	1091	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	CDH23_ENST00000461841.3_Silent_p.I402I|CDH23_ENST00000398809.4_Silent_p.I357I|CDH23_ENST00000299366.7_Silent_p.I402I|CDH23_ENST00000398842.3_Silent_p.I357I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23			133					GCGTGGCCATCACTGAGCTGG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000224721.6	0	1	hg19																																																																																					TCGA-3A-A9I9-01A-11D-A38G-08	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	0	0	0	4	178	0	97	0	0	0	1	0	97	2		0	0	0	0	0	2	1	0.881827	4	171	0	96	2		0	0	0	0	97	2	-5.855426	1	1	121318	1	34	1	1	2	3	2.064640	0	0.300000	1.870000	0.305211	0.160000	0.050000	1.000000	0.150000	0.211375	0.160000	0	9.000000e-02	2.700000e-01
CDH23	64072	broad.mit.edu	37	10	73545428	73545428	+	Missense_Mutation	SNP	G	G	A	rs115113440	by1000genomes	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:73545428G>A	ENST00000224721.6	+	43	5773	c.5768G>A	c.(5767-5769)cGg>cAg	p.R1923Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23			133					GACCGCGAGCGGATCCCAGAG	0.597000																								0							SO:0001583	missense			ENST00000224721.6	1	1	hg19		6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	12.73	2.024660	0.35701	0.004271	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.2	2.33	0.28932	Cadherin (4);Cadherin-like (1);	0.074456	0.53938	D	0.000048	T	0.18173	0.0436	N	0.05510	-0.035	0.80722	D	1	B	0.22683	0.073	B	0.18871	0.023	T	0.03287	-1.1052	9	0.15499	T	0.54	.	5.4098	0.16342	0.2787:0.0:0.592:0.1293	.	1918	Q9H251	CAD23_HUMAN	Q	1923;1918;1921	.	ENSP00000224721:R1923Q	R	+	2	0	CDH23	73215434	0.999000	0.42202	0.991000	0.47740	0.646000	0.38490	0.633000	0.24598	0.208000	0.20626	-0.380000	0.06706	CGG		TCGA-3A-A9I9-01A-11D-A38G-08	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	1	0	1	11	63	0	44	0	2.665755e-02	0	2	0	44	2		0	0	0	0	0	2	1	0.998438	11	60	0	44	2		0	0	0	0	44	2	-3.883401	1	1	121044	68	46	1	1	2	3	2.064640	0	0.300000	1.870000	0.305211	0.990000	0.550000	1.000000	1.000000	0.910611	0.990000	1	7.600000e-01	1
SYNPO2L	79933	broad.mit.edu	37	10	75407582	75407582	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:75407582G>C	ENST00000394810.2	-	4	1977	c.1828C>G	c.(1828-1830)Cgc>Ggc	p.R610G	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386G	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like			26	Prostate(51;0.0112)				CGCTGCTCGCGAGCGCTGGGG	0.706000																								0							SO:0001583	missense			ENST00000394810.2	1	1	hg19	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805525	0.50315	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27402	1.67;1.98	5.02	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	L	0.50333	1.59	0.43608	D	0.995978	D;D	0.89917	1.0;1.0	D;D	0.79784	0.98;0.993	T	0.31696	-0.9934	10	0.33141	T	0.24	-16.451	12.8585	0.57899	0.0:0.0:0.4834:0.5165	.	610;386	Q9H987;Q9H987-2	SYP2L_HUMAN;.	G	386;610	ENSP00000361964:R386G;ENSP00000378289:R610G	ENSP00000361964:R386G	R	-	1	0	SYNPO2L	75077588	0.221000	0.23642	0.834000	0.33040	0.795000	0.44927	0.966000	0.29331	1.313000	0.45069	0.549000	0.68633	CGC		TCGA-3A-A9I9-01A-11D-A38G-08	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	1	0	0	51	252	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	1.000000	48	247	0	142	2		0	0	0	0	145	2	-20.000000	1	1	0	0		1	1	2	3	2.064640	0	0.300000	1.870000	0.305211	0.990000	0.860000	1.000000	1.000000	0.988590	0.990000	1	9.900000e-01	1
TECTA	7007	broad.mit.edu	37	11	121028674	121028674	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:121028674G>A	ENST00000392793.1	+	14	4701	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1477H			O75443	TECTA_HUMAN	tectorin alpha		TECTA/TBCEL(2)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)			AACGGGGTGCGCGGCTGCTTC	0.687000																								0							SO:0001583	missense			ENST00000392793.1	1	1	hg19	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397066	0.83120	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04970	3.52;3.52	5.69	5.69	0.88448	von Willebrand factor, type D domain (1);VWC out (1);	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.31926	0.97	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.17137	-1.0379	10	0.14656	T	0.56	.	19.8006	0.96506	0.0:0.0:1.0:0.0	.	1477	O75443	TECTA_HUMAN	H	1477	ENSP00000376543:R1477H;ENSP00000264037:R1477H	ENSP00000264037:R1477H	R	+	2	0	TECTA	120533884	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.508000	0.98000	2.687000	0.91594	0.462000	0.41574	CGC		TCGA-3A-A9I9-01A-11D-A38G-08	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1	39	247	0	123	0	0	0	1	0	123	2		0	0	0	0	0	2	1	1.000000	39	239	0	121	2		0	0	0	0	123	2	-20.000000	1	1	121338	5	36	1	1	2	3	2.118814	0	0.300000	1.870000	0.314398	0.940000	0.680000	1.000000	1.000000	0.918206	0.940000	1	8.000000e-01	1
UBASH3B	84959	broad.mit.edu	37	11	122667631	122667631	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:122667631G>A	ENST00000284273.5	+	9	1622	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B			26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)			CGCTACATACGCACCAACCTG	0.473000																								0							SO:0001583	missense			ENST00000284273.5	1	1	hg19	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881504	0.91740	.	.	ENSG00000154127	ENST00000284273	T	0.07567	3.18	6.05	5.14	0.70334	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10660	-1.0620	10	0.72032	D	0.01	-25.6525	15.3314	0.74215	0.0666:0.0:0.9334:0.0	.	416	Q8TF42	UBS3B_HUMAN	H	416	ENSP00000284273:R416H	ENSP00000284273:R416H	R	+	2	0	UBASH3B	122172841	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.368000	0.97152	1.577000	0.49804	0.650000	0.86243	CGC		TCGA-3A-A9I9-01A-11D-A38G-08	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	1	0	1	73	281	0	90	1	6.947207e-01	2	9	0	90	2		0	0	0	0	0	2	1	1.000000	72	275	0	90	2		0	0	0	0	90	2	-3.454717	1	1	0	0		1	1	2	3	2.118814	0	0.300000	1.870000	0.314398	0.990000	0.990000	1.000000	1.000000	0.999961	0.990000	1	9.900000e-01	1
OR4B1	119765	broad.mit.edu	37	11	48238701	48238701	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:48238701G>A	ENST00000309562.2	+	1	358	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	p.V114L(1)		28					CCTTTTGATTGTGGTGATGGC	0.443000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000309562.2	1	1	hg19	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350283	0.41599	.	.	ENSG00000175619	ENST00000309562	T	0.00502	6.95	5.24	0.588	0.17445	GPCR, rhodopsin-like superfamily (1);	0.647154	0.13543	N	0.380012	T	0.00637	0.0021	L	0.33710	1.025	0.09310	N	1	P	0.42248	0.774	P	0.52909	0.713	T	0.53830	-0.8383	10	0.56958	D	0.05	.	8.0126	0.30361	0.4392:0.0:0.5608:0.0	.	114	Q8NGF8	OR4B1_HUMAN	M	114	ENSP00000311605:V114M	ENSP00000311605:V114M	V	+	1	0	OR4B1	48195277	0.000000	0.05858	0.407000	0.26434	0.736000	0.42039	-0.124000	0.10595	0.199000	0.20427	0.385000	0.25706	GTG		TCGA-3A-A9I9-01A-11D-A38G-08	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	1	0	1	104	590	0	147		0	0	0	0	147	2		0	0	0	0	0	2	1	1.000000	102	577	0	143	2		0	0	0	0	147	2	-20.000000	1	0	0	0		1	0	0	0	2.030180	0	0.300000	1.870000	0.295775	0.980000	0.820000	1.000000	1.000000	0.962266	0.980000	1	9.000000e-01	1
SMTNL1	219537	broad.mit.edu	37	11	57311123	57311123	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:57311123G>A	ENST00000399154.2	+	3	648	c.648G>A	c.(646-648)caG>caA	p.Q216Q	SMTNL1_ENST00000527972.1_Silent_p.Q253Q|SMTNL1_ENST00000457912.1_Silent_p.Q271Q			A8MU46	SMTL1_HUMAN	smoothelin-like 1			8					GCGAAGAGCAGGAGCAGGACG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000399154.2	1	1	hg19																																																																																					TCGA-3A-A9I9-01A-11D-A38G-08	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	12	65	0	32	0	7.572668e-02	0	3	0	32	2		0	0	0	0	0	2	1	0.999266	12	63	0	30	2		0	0	0	0	32	2	-19.976210	1	1	120812	2	18	1	0	0	0	2.030180	0	0.300000	1.870000	0.295775	0.990000	0.580000	1.000000	1.000000	0.922032	0.990000	1	7.800000e-01	1
DAGLA	747	broad.mit.edu	37	11	61508664	61508664	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:61508664G>A	ENST00000257215.5	+	19	2130	c.2014G>A	c.(2014-2016)Gct>Act	p.A672T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha			43					GGGGAAGACCGCTCTGCTCTC	0.637000																								0							SO:0001583	missense			ENST00000257215.5	1	1	hg19	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295157	0.60086	.	.	ENSG00000134780	ENST00000257215	T	0.29655	1.56	3.73	3.73	0.42828	.	0.056336	0.64402	D	0.000001	T	0.43986	0.1272	L	0.34521	1.04	0.58432	D	0.999999	D	0.76494	0.999	D	0.72625	0.978	T	0.42949	-0.9421	10	0.48119	T	0.1	-13.0611	16.4468	0.83936	0.0:0.0:1.0:0.0	.	672	Q9Y4D2	DGLA_HUMAN	T	672	ENSP00000257215:A672T	ENSP00000257215:A672T	A	+	1	0	DAGLA	61265240	1.000000	0.71417	0.852000	0.33557	0.619000	0.37552	9.441000	0.97557	2.039000	0.60335	0.456000	0.33151	GCT		TCGA-3A-A9I9-01A-11D-A38G-08	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	1	0	1	44	258	0	134	0	1.614848e-01	0	5	0	134	2		0	0	0	0	0	2	1	1.000000	41	253	0	132	2		0	0	0	0	134	2	-19.949590	1	1	0	0		1	0	0	0	2.026767	0	0.300000	1.870000	0.295775	0.960000	0.720000	1.000000	1.000000	0.931834	0.960000	1	8.300000e-01	1
CAPN5	726	broad.mit.edu	37	11	76833726	76833726	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:76833726C>T	ENST00000278559.3	+	12	1897	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.R570C|CAPN5_ENST00000456580.2_Missense_Mutation_p.R610C	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5			30					CATCTTCTACCGCAAGAAGCT	0.567000																								0							SO:0001583	missense			ENST00000278559.3	1	1	hg19	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988182	0.74589	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580	T;T;T	0.71103	-0.54;-0.54;-0.54	4.93	4.93	0.64822	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.050653	0.85682	D	0.000000	T	0.81074	0.4747	M	0.62016	1.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.995;1.0	T	0.82692	-0.0331	10	0.87932	D	0	.	12.5828	0.56399	0.1658:0.8341:0.0:0.0	.	608;610;610;570	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	C	570;610;570;610	ENSP00000278559:R570C;ENSP00000432332:R570C;ENSP00000409996:R610C	ENSP00000278559:R570C	R	+	1	0	CAPN5	76511374	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.941000	0.49011	2.428000	0.82296	0.655000	0.94253	CGC		TCGA-3A-A9I9-01A-11D-A38G-08	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	1	0	1	31	191	0	121	1	9.999971e-01	54	74	0	121	2		0	0	0	0	0	2	1	1.000000	30	186	0	120	2		0	0	0	0	121	2	-2.381871	0	1	121412	18	43	1	0	0	0	2.026767	0	0.300000	1.870000	0.295775	0.920000	0.650000	1.000000	1.000000	0.901151	0.920000	1	7.700000e-01	1
NOS1	4842	broad.mit.edu	37	12	117693813	117693813	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:117693813C>T	ENST00000338101.4	-	16	2565	c.2561G>A	c.(2560-2562)cGt>cAt	p.R854H	NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)			117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				AGGCCCTTTACGGGGAAAGAA	0.602000													Esophageal Squamous(162;1748 2599 51982 52956)											0							SO:0001583	missense			ENST00000338101.4	1	1	hg19	CCDS55890.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	24.6	4.549961	0.86127	5.71E-4	5.02E-4	ENSG00000089250	ENST00000338101;ENST00000544320	T	0.01388	4.95	5.93	5.93	0.95920	.	.	.	.	.	T	0.02455	0.0075	N	0.24115	0.695	0.80722	D	1	.	.	.	.	.	.	T	0.73132	-0.4079	7	0.29301	T	0.29	-6.7644	15.854	0.78960	0.0:1.0:0.0:0.0	.	.	.	.	H	854;20	ENSP00000337459:R854H	ENSP00000337459:R854H	R	-	2	0	NOS1	116178196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.549000	0.53681	2.826000	0.97356	0.655000	0.94253	CGT		TCGA-3A-A9I9-01A-11D-A38G-08	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	1	0	1	61	387	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1.000000	61	373	0	131	2		0	0	0	0	131	2	-3.075786	1	1	116018	62	50	1	0	0	0	2.026697	0	0.300000	1.870000	0.295775	0.890000	0.700000	1.000000	1.000000	0.895737	0.890000	1	7.900000e-01	1
POLE	5426	broad.mit.edu	37	12	133240667	133240667	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:133240667C>G	ENST00000320574.5	-	23	2672	c.2629G>C	c.(2629-2631)Gtc>Ctc	p.V877L	POLE_ENST00000535270.1_Missense_Mutation_p.V850L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit			89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		Cladribine(DB00242)	GTCTTGAAGACAAAATTTTCT	0.517000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000320574.5	1	1	hg19	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357675	0.41801	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.13778	4.22;4.22;4.22;2.56	5.57	5.57	0.84162	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.42245	1.32	0.58432	D	0.999996	P;B	0.36959	0.575;0.261	B;B	0.39876	0.312;0.243	T	0.00912	-1.1517	10	0.49607	T	0.09	.	19.5987	0.95551	0.0:1.0:0.0:0.0	.	850;877	F5H1D6;Q07864	.;DPOE1_HUMAN	L	877;888;850;657;812	ENSP00000322570:V877L;ENSP00000406383:V888L;ENSP00000445753:V850L;ENSP00000442519:V657L	ENSP00000322570:V877L	V	-	1	0	POLE	131750740	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	4.943000	0.63554	2.640000	0.89533	0.638000	0.83543	GTC		TCGA-3A-A9I9-01A-11D-A38G-08	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	1	0	1	40	218	0	123	1	7.347366e-01	4	12	0	123	2		0	0	0	0	0	2	1	1.000000	40	214	0	122	2		0	0	0	0	123	2	-19.860310	1	1	0	0		1	0	0	0	2.026697	0	0.300000	1.870000	0.295775	0.990000	0.750000	1.000000	1.000000	0.957505	0.990000	1	8.800000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	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-3A-A9I9-01A-11D-A38G-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	36	286	0	106	0	1.335233e-02	1	1	0	106	2	1	1	40	282	0	222	2	1	1.000000	36	282	0	106	2	1	1	2031	5987	0	106	2	-14.467220	1	1	0	0		1	0	1	1	1.744959	1	0.300000	1.870000	0.176471	0.620000	0.450000	0.820000	0.620000	0.637571	0.620000	0	5.300000e-01	7.300000e-01
FGF6	2251	broad.mit.edu	37	12	4554454	4554454	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:4554454C>T	ENST00000228837.2	-	1	326	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6			20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		AGGTGAAAGCCGATGCCCACG	0.652000																								0							SO:0001583	missense			ENST00000228837.2	1	1	hg19	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310723	0.95629	.	.	ENSG00000111241	ENST00000228837	D	0.82526	-1.62	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.92166	0.7516	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.93036	0.6453	10	0.87932	D	0	.	19.3285	0.94273	0.0:1.0:0.0:0.0	.	95	P10767	FGF6_HUMAN	S	95	ENSP00000228837:G95S	ENSP00000228837:G95S	G	-	1	0	FGF6	4424715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.636000	0.89361	0.655000	0.94253	GGC		TCGA-3A-A9I9-01A-11D-A38G-08	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	1	0	1	38	181	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1.000000	37	178	0	98	2		0	0	0	0	98	2	-20.000000	1	1	0	0		1	0	2	2	2.055419	1	0.300000	1.870000	0.300000	0.990000	0.840000	1.000000	1.000000	0.986820	0.990000	1	9.900000e-01	1
C1S	716	broad.mit.edu	37	12	7172426	7172426	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7172426C>A	ENST00000406697.1	+	9	1168	c.540C>A	c.(538-540)ttC>ttA	p.F180L	C1S_ENST00000328916.3_Missense_Mutation_p.F180L|C1S_ENST00000360817.5_Missense_Mutation_p.F180L|C1S_ENST00000402681.3_Missense_Mutation_p.F13L			P09871	C1S_HUMAN	complement component 1, s subcomponent			33				Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGGATGTATTCACTGCACTGA	0.428000													GBM(156;750 1943 12971 24779 31015)											0							SO:0001583	missense			ENST00000406697.1	1	1	hg19	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195206	0.78902	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	6.17	3.05	0.35203	CUB (5);	0.000000	0.44483	D	0.000450	T	0.17152	0.0412	L	0.28054	0.825	0.36787	D	0.884655	P	0.39551	0.678	P	0.51777	0.679	T	0.18555	-1.0333	10	0.13853	T	0.58	.	8.1984	0.31411	0.0:0.6461:0.0:0.3539	.	180	P09871	C1S_HUMAN	L	180;180;180;169;13;13	ENSP00000385035:F180L;ENSP00000328173:F180L;ENSP00000354057:F180L;ENSP00000384171:F13L;ENSP00000442298:F13L	ENSP00000328173:F180L	F	+	3	2	C1S	7042687	1.000000	0.71417	0.972000	0.41901	0.871000	0.50021	0.473000	0.22132	0.941000	0.37499	0.655000	0.94253	TTC		TCGA-3A-A9I9-01A-11D-A38G-08	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	1	72	454	0	100	0	1	0	239	0	100	2		0	0	0	0	0	2	1	1.000000	71	445	0	97	2		0	0	0	0	100	2	-20.000000	1	1	0	0		1	0	3	3	2.377243	1	0.300000	1.870000	0.391304	0.990000	0.830000	1.000000	1.000000	0.977571	0.990000	1	9.300000e-01	1
C1RL	51279	broad.mit.edu	37	12	7254607	7254607	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7254607C>T	ENST00000266542.4	-	3	469	c.377G>A	c.(376-378)aGg>aAg	p.R126K	C1RL_ENST00000545280.1_Missense_Mutation_p.G50R|C1RL_ENST00000544702.1_Missense_Mutation_p.R126K|C1RL_ENST00000545337.1_Missense_Mutation_p.R126K	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like			16					TACAAACTCCCTCTGACCAGG	0.607000																								0							SO:0001583	missense			ENST00000266542.4	1	1	hg19	CCDS8573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.321|3.321	-0.138671|-0.138671	0.06669|0.06669	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000545280|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.16597	.|2.33;2.33;2.33;2.33	3.76|3.76	0.896|0.896	0.19253|0.19253	.|CUB (5);	.|0.544302	.|0.17177	.|N	.|0.184060	T|T	0.05547|0.05547	0.0146|0.0146	N|N	0.05574|0.05574	-0.02|-0.02	0.28959|0.28959	N|N	0.889922|0.889922	.|B;B;B	.|0.23990	.|0.095;0.004;0.001	.|B;B;B	.|0.20184	.|0.028;0.007;0.003	T|T	0.37753|0.37753	-0.9692|-0.9692	5|10	.|0.07030	.|T	.|0.85	.|.	3.4791|3.4791	0.07595|0.07595	0.1981:0.5841:0.0:0.2179|0.1981:0.5841:0.0:0.2179	.|.	.|126;126;126	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	R|K	50|126	.|ENSP00000266542:R126K;ENSP00000441885:R126K;ENSP00000437398:R126K;ENSP00000442611:R126K	.|ENSP00000266542:R126K	G|R	-|-	1|2	0|0	C1RL|C1RL	7145883|7145883	0.033000|0.033000	0.19621|0.19621	0.979000|0.979000	0.43373|0.43373	0.888000|0.888000	0.51559|0.51559	-0.382000|-0.382000	0.07408|0.07408	0.183000|0.183000	0.20059|0.20059	0.462000|0.462000	0.41574|0.41574	GGG|AGG		TCGA-3A-A9I9-01A-11D-A38G-08	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	1	0	1	112	588	0	289	1	9.859088e-01	2	35	0	289	2		0	0	0	0	0	2	1	1.000000	112	580	0	289	2		0	0	0	0	289	2	-2.507496	1	1	0	0		1						0.300000	1.870000									0	0
TPP2	7174	broad.mit.edu	37	13	103301346	103301346	+	Silent	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr13:103301346T>A	ENST00000376065.4	+	22	2754	c.2718T>A	c.(2716-2718)ctT>ctA	p.L906L	TPP2_ENST00000376052.3_Silent_p.L906L	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II			52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)				TTAAAGACCTTCCATTTATTG	0.338000																								0							SO:0001819	synonymous_variant			ENST00000376065.4	1	1	hg19	CCDS9502.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2	1	0	1	65	482	0	88	1	7.066586e-01	2	18	0	88	2		0	0	0	0	0	2	1	1.000000	64	471	0	87	2		0	0	0	0	88	2	-20.000000	1	1	0	0		1	1	2	3	2.353886	1	0.300000	1.870000	0.391304	0.900000	0.710000	1.000000	1.000000	0.904532	0.900000	1	8.000000e-01	1
EML1	2009	broad.mit.edu	37	14	100374050	100374050	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:100374050G>C	ENST00000262233.6	+	10	1223	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	EML1_ENST00000327921.9_Missense_Mutation_p.E350Q|EML1_ENST00000334192.4_Missense_Mutation_p.E381Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1			42		Melanoma(154;0.0879)|all_epithelial(191;0.216)			GCAGAAAGAAGAAAAACTAGC	0.468000																								0							SO:0001583	missense			ENST00000262233.6	1	1	hg19	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911712	0.52439	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T;T	0.46451	5.01;0.87;0.87;0.87	4.99	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.049952	0.85682	D	0.000000	T	0.44201	0.1282	N	0.25890	0.77	0.50813	D	0.999899	D;P;B;D;D	0.59767	0.975;0.911;0.029;0.986;0.957	P;B;B;P;B	0.57846	0.648;0.363;0.011;0.828;0.445	T	0.19712	-1.0297	10	0.21014	T	0.42	-24.9371	14.9443	0.71016	0.0:0.0:0.8557:0.1443	.	350;350;362;381;381	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	Q	349;350;362;381;381	ENSP00000451346:E349Q;ENSP00000327384:E350Q;ENSP00000262233:E362Q;ENSP00000334314:E381Q	ENSP00000262233:E362Q	E	+	1	0	EML1	99443803	1.000000	0.71417	0.042000	0.18584	0.901000	0.52897	7.832000	0.86757	1.206000	0.43276	0.655000	0.94253	GAA		TCGA-3A-A9I9-01A-11D-A38G-08	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	1	0	1	41	230	0	97	0	5.666489e-01	0	12	0	97	2		0	0	0	0	0	2	1	1.000000	41	225	0	97	2		0	0	0	0	97	2	-3.152586	1	1	0	0		1	1	2	3	2.045233	0	0.300000	1.870000	0.302094	0.990000	0.740000	1.000000	1.000000	0.952594	0.990000	1	8.700000e-01	1
VTI1B	10490	broad.mit.edu	37	14	68118129	68118129	+	Silent	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:68118129A>C	ENST00000554659.1	-	6	1013	c.672T>G	c.(670-672)gtT>gtG	p.V224V	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B			5					ATTTGTAGTAAACCAGGCCTC	0.453000																								0							SO:0001819	synonymous_variant			ENST00000554659.1	1	1	hg19	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	A	6.515	0.463167	0.12402	.	.	ENSG00000100568	ENST00000554636	.	.	.	6.17	-2.23	0.06930	.	.	.	.	.	T	0.50343	0.1610	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43376	-0.9395	4	.	.	.	.	6.4943	0.22133	0.3206:0.2838:0.3956:0.0	.	.	.	.	C	102	.	.	F	-	2	0	VTI1B	67187882	0.962000	0.33011	0.993000	0.49108	0.998000	0.95712	0.084000	0.14891	-0.288000	0.09051	0.533000	0.62120	TTT		TCGA-3A-A9I9-01A-11D-A38G-08	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2	1	0	0	47	263	0	67	1	1	89	307	0	67	2		0	0	0	0	0	2	1	1.000000	46	259	0	67	2		0	0	0	0	67	2	-20.000000	1	1	0	0		1	1	2	3	2.045233	0	0.300000	1.870000	0.302094	0.990000	0.760000	1.000000	1.000000	0.956621	0.990000	1	8.800000e-01	1
MAP3K9	4293	broad.mit.edu	37	14	71200060	71200060	+	Splice_Site	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:71200060C>G	ENST00000554752.2	-	11	2026		c.e11-1		MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9			46					tcctcatcctctgtgaagatg	0.542000													GBM(114;411 1587 13539 28235 50070)											0							SO:0001630	splice_region_variant			ENST00000554752.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.23	3.578227	0.65878	.	.	ENSG00000006432	ENST00000542284	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.73892	0.3645	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73366	-0.4005	4	.	.	.	.	17.9928	0.89174	0.0:1.0:0.0:0.0	.	.	.	.	Q	392	.	.	E	-	1	0	MAP3K9	70269813	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.862000	0.69560	2.478000	0.83669	0.561000	0.74099	GAG		TCGA-3A-A9I9-01A-11D-A38G-08	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	0	0	1	11	68	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.998740	11	68	0	34	2		0	0	0	0	36	2	-19.378620	1	1	0	0		1	1	2	3	2.045233	0	0.300000	1.870000	0.302094	0.940000	0.510000	1.000000	1.000000	0.879021	0.940000	1	7.000000e-01	1
THBS1	7057	broad.mit.edu	37	15	39876541	39876541	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:39876541C>T	ENST00000260356.5	+	6	1109	c.944C>T	c.(943-945)cCt>cTt	p.P315L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1			53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)			CTGAGGCGGCCTCCCCTATGC	0.483000																								0							SO:0001583	missense			ENST00000260356.5	1	1	hg19	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268480	0.59540	.	.	ENSG00000137801	ENST00000260356	T	0.77620	-1.11	5.88	5.88	0.94601	.	0.224139	0.22966	N	0.053490	T	0.78091	0.4229	M	0.61703	1.905	0.47214	D	0.999351	B	0.15141	0.012	B	0.14023	0.01	T	0.72883	-0.4157	10	0.59425	D	0.04	-2.5851	19.2015	0.93713	0.0:1.0:0.0:0.0	.	315	P07996	TSP1_HUMAN	L	315	ENSP00000260356:P315L	ENSP00000260356:P315L	P	+	2	0	THBS1	37663833	0.032000	0.19561	0.123000	0.21794	0.901000	0.52897	2.941000	0.49011	2.786000	0.95864	0.655000	0.94253	CCT		TCGA-3A-A9I9-01A-11D-A38G-08	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	1	0	1	47	244	0	119	1	9.999759e-01	3	82	0	119	2		0	0	0	0	0	2	1	1.000000	47	240	0	117	2		0	0	0	0	119	2	-20.000000	1	1	0	0		1	1	2	3	2.050126	0	0.300000	1.870000	0.302094	0.990000	0.810000	1.000000	1.000000	0.977355	0.990000	1	9.400000e-01	1
RNF111	54778	broad.mit.edu	37	15	59359283	59359283	+	Splice_Site	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:59359283G>C	ENST00000557998.1	+	6	1973		c.e6+1		RNF111_ENST00000559209.1_Splice_Site|RNF111_ENST00000348370.4_Splice_Site|RNF111_ENST00000561186.1_Splice_Site|RNF111_ENST00000434298.1_Splice_Site	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111			35					TCATGAACAGGTATGTGGAAT	0.468000													NSCLC(72;983 1365 10746 34387 47081)											0							SO:0001630	splice_region_variant			ENST00000557998.1	1	1	hg19	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008992	0.75046	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5984	0.88018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF111	57146575	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.279000	0.89901	2.398000	0.81561	0.462000	0.41574	.		TCGA-3A-A9I9-01A-11D-A38G-08	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	1	0	1	43	221	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1.000000	42	217	0	99	2		0	0	0	0	99	2	-20.000000	1	0	0	0		1	0	1	1	1.733808	1	0.300000	1.870000	0.176471	0.870000	0.660000	0.990000	0.910000	0.865874	0.870000	1	7.600000e-01	9.600000e-01
PKD1	5310	broad.mit.edu	37	16	2165466	2165466	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:2165466C>T	ENST00000262304.4	-	10	2218	c.2010G>A	c.(2008-2010)acG>acA	p.T670T	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.T670T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					CTGGCCCTGACGTGCAGCCAT	0.711000																								0							SO:0001819	synonymous_variant			ENST00000262304.4	0	1	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	.	5.400	0.259040	0.10239	.	.	ENSG00000008710	ENST00000306101	.	.	.	4.65	-6.53	0.01866	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5936	0.28035	0.0:0.3152:0.2329:0.4519	.	.	.	.	.	-1	.	.	.	-	.	.	PKD1	2105467	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.318000	0.02705	-1.032000	0.03304	-0.259000	0.10710	.		TCGA-3A-A9I9-01A-11D-A38G-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	0	0	0	3	56	0	32	0	1.685428e-01	0	11	0	32	2		0	0	0	0	0	2	1	0.763344	3	48	0	35	2		0	0	0	0	32	2	-7.064841	1	0	119366	4	27	1	1	2	3	2.286804	1	0.300000	1.870000	0.384886	0.460000	0.130000	1.000000	1.000000	0.513348	0.460000	0	2.600000e-01	7.900000e-01
ITFG3	83986	broad.mit.edu	37	16	313364	313364	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:313364A>T	ENST00000399932.3	+	9	1526	c.1075A>T	c.(1075-1077)Acg>Tcg	p.T359S	ITFG3_ENST00000442458.2_Missense_Mutation_p.T359S|ITFG3_ENST00000450082.2_Missense_Mutation_p.T359S|ITFG3_ENST00000301679.2_Missense_Mutation_p.T359S|ITFG3_ENST00000600536.1_Missense_Mutation_p.T359S|ITFG3_ENST00000301678.3_Missense_Mutation_p.T359S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3			16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)			GCAGGAGCTGACGCCTCGCTG	0.652000																								0							SO:0001583	missense			ENST00000399932.3	1	1	hg19	CCDS10402.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.312|2.312	-0.357614|-0.357614	0.05138|0.05138	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000442458;ENST00000301678;ENST00000450082|ENST00000424016	T;T;T;T;T|.	0.56611|.	0.45;0.45;0.45;0.45;0.45|.	4.23|4.23	-3.04|-3.04	0.05412|0.05412	Quinonprotein alcohol dehydrogenase-like (1);|.	1.032930|.	0.07604|.	N|.	0.924179|.	T|.	0.35068|.	0.0919|.	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.27559|.	0.181;0.181|.	B;B|.	0.26693|.	0.072;0.072|.	T|.	0.39663|.	-0.9603|.	10|.	0.12430|.	T|.	0.62|.	-19.7556|-19.7556	6.642|6.642	0.22914|0.22914	0.5895:0.1307:0.2798:0.0|0.5895:0.1307:0.2798:0.0	.|.	359;359|.	Q9H0X4-2;Q9H0X4|.	.;ITFG3_HUMAN|.	S|C	359|50	ENSP00000382814:T359S;ENSP00000301679:T359S;ENSP00000397477:T359S;ENSP00000301678:T359S;ENSP00000411394:T359S|.	ENSP00000301678:T359S|.	T|X	+|+	1|3	0|0	ITFG3|ITFG3	253365|253365	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.036000|0.036000	0.12997|0.12997	-0.408000|-0.408000	0.07169|0.07169	-0.463000|-0.463000	0.06973|0.06973	0.459000|0.459000	0.35465|0.35465	ACG|TGA		TCGA-3A-A9I9-01A-11D-A38G-08	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	1	0	1	26	238	0	109	1	9.999998e-01	38	206	0	109	2		0	0	0	0	0	2	1	1.000000	26	232	0	107	2		0	0	0	0	109	2	-20.000000	1	1	0	0		1	1	2	3	2.286804	1	0.300000	1.870000	0.384886	0.760000	0.510000	1.000000	1.000000	0.776855	0.760000	0	6.200000e-01	9.500000e-01
ABCC11	85320	broad.mit.edu	37	16	48248799	48248799	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:48248799G>A	ENST00000394747.1	-	8	1590	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	ABCC11_ENST00000353782.5_Missense_Mutation_p.A414V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A414V|ABCC11_ENST00000537808.1_Missense_Mutation_p.A414V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A414V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11			83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)		Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TACCATTGACGCTGTGAGTTT	0.493000																								0							SO:0001583	missense			ENST00000394747.1	1	1	hg19	CCDS10732.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.39	1.924986	0.34002	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	4.95	2.93	0.34026	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.956055	0.08704	N	0.905962	D	0.88112	0.6349	L	0.42744	1.35	0.09310	N	1	B;B	0.15719	0.003;0.014	B;B	0.16722	0.001;0.016	T	0.76680	-0.2870	10	0.48119	T	0.1	0.4302	7.1914	0.25828	0.2178:0.0:0.7822:0.0	.	414;414	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	414	ENSP00000311326:A414V;ENSP00000349017:A414V;ENSP00000378231:A414V;ENSP00000378230:A414V;ENSP00000438530:A414V	ENSP00000311326:A414V	A	-	2	0	ABCC11	46806300	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	2.029000	0.41098	0.454000	0.26884	0.650000	0.86243	GCG		TCGA-3A-A9I9-01A-11D-A38G-08	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	1	0	1	27	179	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1.000000	26	179	0	54	2		0	0	0	0	55	2	-13.606940	1	1	121412	8	39	1	0	0	0	2.030203	0	0.300000	1.870000	0.295775	0.860000	0.590000	1.000000	1.000000	0.860423	0.860000	1	7.200000e-01	1
C16orf70	80262	broad.mit.edu	37	16	67166803	67166803	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67166803C>T	ENST00000219139.3	+	6	627	c.439C>T	c.(439-441)Cca>Tca	p.P147S	C16orf70_ENST00000569600.1_Missense_Mutation_p.P147S|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70			17		Ovarian(137;0.192)			GACTGAGGCTCCAAAGTATGA	0.512000																								0							SO:0001583	missense			ENST00000219139.3	1	1	hg19	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294667	0.60086	.	.	ENSG00000125149	ENST00000219139	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	N	0.10874	0.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.45425	-0.9262	9	0.09084	T	0.74	-10.8823	18.1025	0.89510	0.0:1.0:0.0:0.0	.	222;147	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	S	147	.	ENSP00000219139:P147S	P	+	1	0	C16orf70	65724304	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.624000	0.83124	2.866000	0.98385	0.650000	0.86243	CCA		TCGA-3A-A9I9-01A-11D-A38G-08	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	1	0	1	109	673	0	313	0	4.690778e-01	1	10	0	313	2		0	0	0	0	0	2	1	1.000000	107	656	0	311	2		0	0	0	0	313	2	-20.000000	1	1	0	0		1	0	0	0	2.020615	0	0.300000	1.870000	0.291498	0.910000	0.760000	1.000000	1.000000	0.913527	0.910000	1	8.300000e-01	1
FAM65A	79567	broad.mit.edu	37	16	67576517	67576517	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67576517C>G	ENST00000379312.3	+	13	1961	c.1840C>G	c.(1840-1842)Cat>Gat	p.H614D	CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.H610D|FAM65A_ENST00000422602.2_Missense_Mutation_p.H630D|FAM65A_ENST00000540839.3_Missense_Mutation_p.H630D|FAM65A_ENST00000428437.2_Missense_Mutation_p.H624D	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A			39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)			AAGCCCTACCCATACCACAGC	0.547000																								0							SO:0001583	missense			ENST00000379312.3	1	1	hg19	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.90|14.90	2.672180|2.672180	0.47781|0.47781	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.14640|.	2.49;2.49;2.49|.	4.72|4.72	1.63|1.63	0.23807|0.23807	.|.	1.276350|.	0.05009|.	N|.	0.470630|.	T|T	0.16769|0.16769	0.0403|0.0403	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.26400|.	0.039;0.039;0.039;0.148|.	B;B;B;B|.	0.19946|.	0.007;0.007;0.007;0.027|.	T|T	0.28267|0.28267	-1.0049|-1.0049	10|5	0.42905|.	T|.	0.14|.	0.0019|0.0019	6.4361|6.4361	0.21825|0.21825	0.0:0.6759:0.1505:0.1737|0.0:0.6759:0.1505:0.1737	.|.	624;630;614;630|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	D|R	614;610;630;624|604	ENSP00000368614:H614D;ENSP00000042381:H610D;ENSP00000400099:H630D|.	ENSP00000042381:H610D|.	H|P	+|+	1|2	0|0	FAM65A|FAM65A	66134018|66134018	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.112000|0.112000	0.19704|0.19704	0.853000|0.853000	0.27777|0.27777	0.178000|0.178000	0.19917|0.19917	0.436000|0.436000	0.28706|0.28706	CAT|CCA		TCGA-3A-A9I9-01A-11D-A38G-08	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	1	0	1	122	1066	0	586	1	9.966956e-01	13	62	0	586	2		0	0	0	0	0	2	1	1.000000	118	1022	0	570	2		0	0	0	0	586	2	-3.221883	1	1	0	0		1	0	0	0	2.020615	0	0.300000	1.870000	0.291498	0.670000	0.560000	0.790000	0.670000	0.679413	0.670000	0	6.100000e-01	7.400000e-01
DHX38	9785	broad.mit.edu	37	16	72138480	72138480	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:72138480C>T	ENST00000268482.3	+	15	2615	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38			48		Ovarian(137;0.125)			TCCCCATCTTCCACATCCCTG	0.537000													Melanoma(97;711 1442 7855 13832 28836)											0							SO:0001819	synonymous_variant			ENST00000268482.3	1	1	hg19	CCDS10907.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	1	0	1	67	409	0	189	1	9.916134e-01	8	39	0	189	2		0	0	0	0	0	2	1	1.000000	67	396	0	187	2		0	0	0	0	189	2	-20.000000	1	1	0	0		1	0	0	0	2.020615	0	0.300000	1.870000	0.291498	0.920000	0.730000	1.000000	1.000000	0.915230	0.920000	1	8.200000e-01	1
CDYL2	124359	broad.mit.edu	37	16	80718735	80718735	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:80718735G>A	ENST00000570137.2	-	2	471	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	CDYL2_ENST00000563890.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562812.1_Missense_Mutation_p.R106W	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2			21					ATTCGCTTCCGTTTATGGGAG	0.557000																								0							SO:0001583	missense			ENST00000570137.2	1	1	hg19	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327533	0.60743	2.27E-4	0.0	ENSG00000166446	ENST00000299564	T	0.59364	0.27	5.23	4.24	0.50183	.	0.412335	0.23696	N	0.045479	T	0.64394	0.2594	L	0.29908	0.895	0.49130	D	0.999755	D	0.89917	1.0	D	0.81914	0.995	T	0.67126	-0.5749	10	0.87932	D	0	.	13.7029	0.62620	0.0:0.0:0.7712:0.2288	.	106	Q8N8U2	CDYL2_HUMAN	W	106	ENSP00000299564:R106W	ENSP00000299564:R106W	R	-	1	2	CDYL2	79276236	0.995000	0.38212	1.000000	0.80357	0.702000	0.40608	0.199000	0.17237	2.713000	0.92767	0.655000	0.94253	CGG		TCGA-3A-A9I9-01A-11D-A38G-08	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	1	0	1	53	224	0	96	0	3.801843e-02	0	2	0	96	2		0	0	0	0	0	2	1	1.000000	51	219	0	95	2		0	0	0	0	96	2	-20.000000	1	1	121412	2	36	1	0	0	0	2.020615	0	0.300000	1.870000	0.291498	0.990000	0.970000	1.000000	1.000000	0.998014	0.990000	1	9.900000e-01	1
ZNF778	197320	broad.mit.edu	37	16	89294771	89294771	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:89294771G>A	ENST00000433976.2	+	6	2323	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.G622E	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778			24					CATAAACATGGAAGAATTCAC	0.403000																								0							SO:0001583	missense			ENST00000433976.2	0	1	hg19	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993026	0.19043	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.07327	3.2;3.2	1.21	-2.43	0.06522	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02494	0.0076	N	0.01424	-0.875	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.40590	-0.9555	9	0.56958	D	0.05	.	2.2348	0.04005	0.3511:0.0:0.2421:0.4068	.	622;664	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	E	664;622	ENSP00000405289:G664E;ENSP00000305203:G622E	ENSP00000305203:G622E	G	+	2	0	ZNF778	87822272	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.083000	0.03397	-1.203000	0.02652	-0.534000	0.04291	GGA		TCGA-3A-A9I9-01A-11D-A38G-08	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	0	0	0	4	128	0	53	0	3.785154e-02	1	7	0	53	2		0	0	0	0	0	2	1	0.889744	4	127	0	53	2		0	0	0	0	53	2	-6.914200	1	1	121306	1	25	1	0	0	0	1.968406	0	0.300000	1.870000	0.273859	0.210000	0.070000	0.450000	0.190000	0.235020	0.210000	0	1.200000e-01	3.300000e-01
KIAA0100	9703	broad.mit.edu	37	17	26971150	26971150	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:26971150G>C	ENST00000528896.2	-	2	198	c.124C>G	c.(124-126)Cta>Gta	p.L42V	KIAA0100_ENST00000389003.3_5'UTR|KIAA0100_ENST00000544884.1_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100			68	Lung NSC(42;0.00431)				CCAATCTTTAGCTCCGCCTGC	0.473000											OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000528896.2	1	1	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828801	0.32329	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896	T	0.23552	1.9	5.32	1.1	0.20463	FMP27, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.32971	0.0847	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.992	T	0.01591	-1.1317	10	0.31617	T	0.26	.	8.9329	0.35682	0.3431:0.0:0.6569:0.0	.	42;42	F6XS94;Q14667	.;K0100_HUMAN	V	42	ENSP00000436773:L42V	ENSP00000005905:L42V	L	-	1	2	KIAA0100	23995277	1.000000	0.71417	0.919000	0.36401	0.996000	0.88848	2.540000	0.45727	0.062000	0.16340	0.655000	0.94253	CTA		TCGA-3A-A9I9-01A-11D-A38G-08	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	1	0	1	85	511	0	278	0	2.664808e-01	0	7	0	278	2		0	0	0	0	0	2	1	1.000000	82	503	0	277	2		0	0	0	0	278	2	-20.000000	1	1	0	0		1	1	2	3	2.068952	0	0.300000	1.870000	0.306244	0.960000	0.770000	1.000000	1.000000	0.943171	0.960000	1	8.600000e-01	1
CDC27	996	broad.mit.edu	37	17	45206848	45206848	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45206848T>A	ENST00000066544.3	-	16	2164	c.2071A>T	c.(2071-2073)Acc>Tcc	p.T691S	CDC27_ENST00000531206.1_Missense_Mutation_p.T697S|CDC27_ENST00000527547.1_Missense_Mutation_p.T690S|CDC27_ENST00000446365.2_Missense_Mutation_p.T630S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27			90					TTGTTTAGGGTATCCAAAGCC	0.338000																								0							SO:0001583	missense			ENST00000066544.3	1	1	hg19	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878527	0.91740	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.988;0.988;0.993	T	0.80074	-0.1534	10	0.49607	T	0.09	-10.4546	13.8853	0.63704	0.0:0.0:0.0:1.0	.	630;690;697;691	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	691;697;630;690	ENSP00000066544:T691S;ENSP00000434614:T697S;ENSP00000392802:T630S;ENSP00000437339:T690S	ENSP00000066544:T691S	T	-	1	0	CDC27	42561847	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.032000	0.88838	2.156000	0.67533	0.460000	0.39030	ACC		TCGA-3A-A9I9-01A-11D-A38G-08	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2	0	0	0	16	463	0	149	0	1.213277e-01	0	17	0	149	2	1	9.963055e-01	9	257	0	204	2	1	0.999927	16	456	0	147	2		0	0	0	0	149	2	-15.042200	1	1	0	0		1	1	2	3	2.053906	0	0.300000	1.870000	0.304175	0.220000	0.130000	1.000000	0.220000	0.257897	0.220000	0	1.700000e-01	3.000000e-01
SCRN2	90507	broad.mit.edu	37	17	45916852	45916852	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45916852G>A	ENST00000290216.9	-	4	639	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	SCRN2_ENST00000407215.3_Silent_p.L172L|SCRN2_ENST00000584123.1_Silent_p.L180L	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2			14					GCTGTCTCCAGCACCCACGCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000290216.9	1	1	hg19	CCDS11519.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	1	0	0	51	302	0	171	1	9.999312e-01	17	69	0	171	2		0	0	0	0	0	2	1	1.000000	50	297	0	169	2		0	0	0	0	171	2	-20.000000	1	0	0	0		1	1	2	3	2.053906	0	0.300000	1.870000	0.304175	0.970000	0.740000	1.000000	1.000000	0.938756	0.970000	1	8.400000e-01	1
PHOSPHO1	162466	broad.mit.edu	37	17	47301945	47301945	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:47301945C>A	ENST00000310544.4	-	3	594	c.467G>T	c.(466-468)gGa>gTa	p.G156V	PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.G181V|PHOSPHO1_ENST00000413580.1_Missense_Mutation_p.G181V			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)	Choline(DB00122)	AGCCAGCAGTCCCCGCGCATC	0.701000																								0							SO:0001583	missense			ENST00000310544.4	1	1	hg19	CCDS11547.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626389	0.87560	.	.	ENSG00000173868	ENST00000310544;ENST00000413580;ENST00000514112;ENST00000511066	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.38	4.38	0.52667	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89151	0.3523	10	0.66056	D	0.02	.	15.7956	0.78407	0.0:0.864:0.136:0.0	.	156;181	Q8TCT1;E9PAM0	PHOP1_HUMAN;.	V	156;181;181;156	ENSP00000311925:G156V;ENSP00000406909:G181V;ENSP00000427694:G181V;ENSP00000426095:G156V	ENSP00000311925:G156V	G	-	2	0	PHOSPHO1	44656944	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.292000	0.78731	2.510000	0.84645	0.462000	0.41574	GGA		TCGA-3A-A9I9-01A-11D-A38G-08	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2	1	0	0	7	27	0	14	0	0	0	1	0	14	2		0	0	0	0	0	2	1	0.978381	6	25	0	14	2		0	0	0	0	14	2	-18.729430	1	0	0	0		1	1	2	3	2.053906	0	0.300000	1.870000	0.304175	0.990000	0.650000	1.000000	1.000000	0.966608	0.990000	1	9.500000e-01	1
MBTD1	54799	broad.mit.edu	37	17	49272667	49272667	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49272667C>T	ENST00000586178.1	-	13	1623	c.1280G>A	c.(1279-1281)gGa>gAa	p.G427E	MBTD1_ENST00000415868.1_Missense_Mutation_p.G427E|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1			12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		CCAGTCAGATCCGTCTGCTGC	0.428000																								0							SO:0001583	missense			ENST00000586178.1	1	1	hg19	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	C	34	5.328880	0.95733	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.40476	1.03	5.36	5.36	0.76844	.	0.105548	0.64402	D	0.000004	T	0.60818	0.2298	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	T	0.62267	-0.6890	10	0.87932	D	0	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	427;263	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	E	427	ENSP00000403946:G427E	ENSP00000386072:G427E	G	-	2	0	MBTD1	46627666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.033000	0.70925	2.665000	0.90641	0.643000	0.83706	GGA		TCGA-3A-A9I9-01A-11D-A38G-08	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1	1	0	1	43	336	0	150	0	1.471241e-01	0	6	0	150	2		0	0	0	0	0	2	1	1.000000	41	330	0	150	2		0	0	0	0	150	2	-20.000000	1	1	0	0		1	1	2	3	2.053906	0	0.300000	1.870000	0.304175	0.760000	0.560000	1.000000	0.760000	0.775394	0.760000	0	6.500000e-01	8.900000e-01
UTP18	51096	broad.mit.edu	37	17	49353296	49353296	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49353296C>A	ENST00000225298.7	+	6	838	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)			16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		GCAGTTCCATCCCGGTGCACA	0.383000																								0							SO:0001583	missense			ENST00000225298.7	0	1	hg19	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656868	0.88154	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.25414	1.8	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.61510	-0.7048	10	0.87932	D	0	-16.6136	18.8399	0.92180	0.0:1.0:0.0:0.0	.	261	Q9Y5J1	UTP18_HUMAN	T	261;237	ENSP00000225298:P261T	ENSP00000225298:P261T	P	+	1	0	UTP18	46708295	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	6.329000	0.72920	2.885000	0.99019	0.655000	0.94253	CCC		TCGA-3A-A9I9-01A-11D-A38G-08	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	0	0	0	7	420	0	123	0	1.749805e-01	0	40	0	123	2		0	0	0	0	0	2	1	0.978365	7	406	0	123	2		0	0	0	0	123	2	-3.226472	1	1	0	0		1	1	2	3	2.053906	0	0.300000	1.870000	0.304175	0.110000	0.040000	1.000000	0.110000	0.149601	0.110000	0	7.000000e-02	1.700000e-01
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	SO:0001583	missense	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	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		TCGA-3A-A9I9-01A-11D-A38G-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	28	203	0	131	1	9.365487e-01	8	28	0	131	2	1	1	91	609	1	689	6	1	1.000000	27	198	0	129	2		0	0	0	0	131	2	-2.599063	1	1	121412	1	39	1	0	1	1	1.730853	1	0.300000	1.870000	0.176471	0.670000	0.460000	0.910000	0.670000	0.688017	0.670000	0	5.600000e-01	8.000000e-01
RNF213	57674	broad.mit.edu	37	17	78324169	78324169	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:78324169G>A	ENST00000582970.1	+	31	10300	c.10157G>A	c.(10156-10158)cGt>cAt	p.R3386H	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R3435H|RNF213_ENST00000336301.6_Missense_Mutation_p.R1459H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213			130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		GATGGAATCCGTAGCGCCCAG	0.353000																								0							SO:0001583	missense			ENST00000582970.1	1	1	hg19	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	g	5.030	0.191195	0.09547	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.17528	2.27	5.0	-1.62	0.08372	.	0.947517	0.08876	N	0.880757	T	0.06325	0.0163	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	10	0.22109	T	0.4	.	7.9091	0.29780	0.4707:0.0:0.4235:0.1057	.	1459	Q63HN8	RN213_HUMAN	H	3386;3435;1459	ENSP00000338218:R1459H	ENSP00000338218:R1459H	R	+	2	0	RNF213	75938764	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	0.460000	0.21924	-0.543000	0.06240	-0.285000	0.09966	CGT		TCGA-3A-A9I9-01A-11D-A38G-08	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	1	0	0	21	325	0	156	1	2.923285e-01	3	14	0	156	2	1	9.996228e-01	17	349	1	342	6	1	0.999998	21	323	0	154	2		0	0	0	0	156	2	-6.340543	1	1	121410	1	32	1	0	1	1	1.736465	1	0.300000	1.870000	0.176471	0.340000	0.210000	0.500000	0.340000	0.353417	0.340000	0	2.700000e-01	4.200000e-01
PCYT2	5833	broad.mit.edu	37	17	79866869	79866869	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:79866869C>T	ENST00000538936.2	-	3	331	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PCYT2_ENST00000570391.1_Missense_Mutation_p.E43K|PCYT2_ENST00000538721.2_Missense_Mutation_p.E75K|PCYT2_ENST00000570388.1_5'UTR|PCYT2_ENST00000571105.1_Missense_Mutation_p.E75K|PCYT2_ENST00000331285.3_5'UTR	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine			8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)	Lamivudine(DB00709)	TTGTATCTCTCCTCCTGAGTG	0.592000																								0							SO:0001583	missense			ENST00000538936.2	1	1	hg19	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206311	0.95033	.	.	ENSG00000185813	ENST00000538721;ENST00000538936	D;D	0.97256	-4.31;-4.31	4.25	4.25	0.50352	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.99793	1.1032	10	0.87932	D	0	-43.1461	16.8397	0.85965	0.0:1.0:0.0:0.0	.	43;43;75;75	B7Z4W6;B7ZAS0;F5H8B1;Q99447	.;.;.;PCY2_HUMAN	K	75	ENSP00000442050:E75K;ENSP00000439245:E75K	ENSP00000442050:E75K	E	-	1	0	PCYT2	77460161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.330000	0.65899	2.197000	0.70478	0.561000	0.74099	GAG		TCGA-3A-A9I9-01A-11D-A38G-08	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	1	0	1	34	212	0	144	1	9.787827e-01	22	19	0	144	2		0	0	0	0	0	2	1	1.000000	33	208	0	143	2		0	0	0	0	144	2	-2.923902	1	1	0	0		1	0	1	1	1.736465	1	0.300000	1.870000	0.176471	0.760000	0.550000	0.970000	0.770000	0.771686	0.760000	0	6.500000e-01	8.800000e-01
MYH10	4628	broad.mit.edu	37	17	8398511	8398511	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:8398511C>A	ENST00000269243.4	-	29	4045	c.3907G>T	c.(3907-3909)Ggt>Tgt	p.G1303C	MYH10_ENST00000360416.3_Missense_Mutation_p.G1334C|MYH10_ENST00000396239.1_Missense_Mutation_p.G1324C|MYH10_ENST00000379980.4_Missense_Mutation_p.G1319C	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle			52					AATTTAATACCCTTCTTCTCT	0.408000																								0							SO:0001583	missense			ENST00000269243.4	1	1	hg19	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118677	0.37436	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.88	4.88	0.63580	Myosin tail (1);	0.051033	0.85682	D	0.000000	T	0.66416	0.2787	N	0.13098	0.295	0.58432	D	0.999996	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.003;0.005	T	0.63514	-0.6620	10	0.62326	D	0.03	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	1312;1334;1303	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	1303;1334;1324;1319	ENSP00000269243:G1303C;ENSP00000353590:G1334C;ENSP00000379539:G1324C;ENSP00000369315:G1319C	ENSP00000269243:G1303C	G	-	1	0	MYH10	8339236	0.212000	0.23540	0.973000	0.42090	0.977000	0.68977	0.960000	0.29253	2.688000	0.91661	0.655000	0.94253	GGT		TCGA-3A-A9I9-01A-11D-A38G-08	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	0	0	0	11	222	1	152	0	2.909272e-01	1	20	1	152	2		0	0	0	0	0	2	1	0.812692	11	218	1	150	8		0	0	0	1	152	2	-2.654036	1	1	0	0		1	0	1	1	1.730853	1	0.300000	1.870000	0.176471	0.270000	0.140000	0.440000	0.260000	0.283587	0.270000	0	1.900000e-01	3.600000e-01
DLGAP1	9229	broad.mit.edu	37	18	3879577	3879577	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr18:3879577G>A	ENST00000315677.3	-	4	1087	c.492C>T	c.(490-492)aaC>aaT	p.N164N	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Silent_p.N164N|DLGAP1_ENST00000581527.1_Silent_p.N164N|DLGAP1_ENST00000584874.1_Silent_p.N164N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1			56		Colorectal(8;0.0257)			CCTTGCCCCCGTTGACGCTGC	0.711000																								0							SO:0001819	synonymous_variant			ENST00000315677.3	1	1	hg19	CCDS11836.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4	1	0	1	97	401	0	252		0	0	0	0	252	2		0	0	0	0	0	2	1	1.000000	96	392	0	244	2		0	0	0	0	252	2	-20.000000	1	1	0	0		1	1	2	3	2.081949	0	0.300000	1.870000	0.308300	0.990000	0.990000	1.000000	1.000000	0.999931	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40408807	40408807	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:40408807G>A	ENST00000221347.6	-	8	4039	c.4032C>T	c.(4030-4032)aaC>aaT	p.N1344N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		GGATCTGGCCGTTGGCCAGCA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000221347.6	0	1	hg19	CCDS12546.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	0	19	114	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	0.999762	12	75	0	76	2		0	0	0	0	71	2	-20.000000	1	1	121330	21	39	1	0	0	0	2.011623	0	0.300000	1.870000	0.289340	0.930000	0.590000	1.000000	1.000000	0.896457	0.930000	1	7.500000e-01	1
MEGF8	1954	broad.mit.edu	37	19	42848986	42848986	+	Splice_Site	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:42848986G>C	ENST00000251268.6	+	12	2097		c.e12+1		MEGF8_ENST00000334370.4_Splice_Site	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			GCCTGACAAGGTGGGTAGGAG	0.542000																								0							SO:0001630	splice_region_variant			ENST00000251268.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	16.72	3.201977	0.58234	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.638	0.76970	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF8	47540826	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	8.593000	0.90832	2.288000	0.76882	0.457000	0.33378	.		TCGA-3A-A9I9-01A-11D-A38G-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	0	32	373	0	226	1	1.911386e-02	2	1	0	226	2		0	0	0	0	0	2	1	1.000000	30	365	0	223	2		0	0	0	0	226	2	-20.000000	1	1	0	0		1	0	0	0	2.011623	0	0.300000	1.870000	0.289340	0.510000	0.360000	0.700000	0.520000	0.529211	0.510000	0	4.300000e-01	6.100000e-01
PSG6	5675	broad.mit.edu	37	19	43420449	43420449	+	Silent	SNP	G	G	A	rs73934315	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:43420449G>A	ENST00000292125.2	-	2	299	c.255C>T	c.(253-255)caC>caT	p.H85H	PSG6_ENST00000187910.2_Silent_p.H85H|PSG6_ENST00000601833.1_Silent_p.H14H|PSG6_ENST00000402603.4_Silent_p.H85H	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6			44		Prostate(69;0.00899)			TAATTTGACCGTGTACTACAT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000292125.2	1	0	hg19	CCDS12613.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	1	0	0	246	1430	0	460		0	0	0	0	460	2		0	0	0	0	0	2	1	1.000000	245	1405	0	456	2		0	0	0	0	460	2	-10.636750	1	1	121320	246	62	1	0	0	0	2.011623	0	0.300000	1.870000	0.289340	0.950000	0.850000	1.000000	1.000000	0.955519	0.950000	1	9.000000e-01	1
PPP2R1A	5518	broad.mit.edu	37	19	52709296	52709296	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:52709296G>C	ENST00000322088.6	+	3	308	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Intron	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha			135					GGGAGGCCCAGAGTACGTGCA	0.607000			Mis		clear cell ovarian carcinoma										Dom?	yes		19	19q13.41	5518	protein phosphatase 2, regulatory subunit A, alpha		E	0							SO:0001583	missense			ENST00000322088.6	1	1	hg19	CCDS12849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.630|8.630	0.893441|0.893441	0.17613|0.17613	.|.	.|.	ENSG00000105568|ENSG00000105568	ENST00000454220;ENST00000423369;ENST00000322088|ENST00000391791	T;T|.	0.35048|.	1.33;1.33|.	3.23|3.23	2.2|2.2	0.27929|0.27929	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.225700|.	0.30455|.	N|.	0.009598|.	T|T	0.62792|0.62792	0.2457|0.2457	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;B|.	0.15719|.	0.014;0.014|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.64597|0.64597	-0.6370|-0.6370	10|6	0.48119|0.87932	T|D	0.1|0	-26.2108|-26.2108	8.5769|8.5769	0.33603|0.33603	0.1188:0.0:0.8812:0.0|0.1188:0.0:0.8812:0.0	.|.	84;84|.	A8K7B7;P30153|.	.;2AAA_HUMAN|.	Q|H	124;84;84|62	ENSP00000391905:E124Q;ENSP00000324804:E84Q|.	ENSP00000324804:E84Q|ENSP00000375668:Q62H	E|Q	+|+	1|3	0|2	PPP2R1A|PPP2R1A	57401108|57401108	1.000000|1.000000	0.71417|0.71417	0.672000|0.672000	0.29872|0.29872	0.515000|0.515000	0.34225|0.34225	8.178000|8.178000	0.89690|0.89690	0.948000|0.948000	0.37687|0.37687	-0.339000|-0.339000	0.08088|0.08088	GAG|CAG		TCGA-3A-A9I9-01A-11D-A38G-08	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	1	0	0	11	267	0	75	1	9.926215e-01	7	199	0	75	2		0	0	0	0	0	2	1	0.998184	11	260	0	75	2		0	0	0	0	75	2	-3.139827	1	1	0	0		1	1	2	3	2.352969	1	0.300000	1.870000	0.391304	0.310000	0.160000	0.510000	0.300000	0.326736	0.310000	0	2.200000e-01	4.100000e-01
FBN3	84467	broad.mit.edu	37	19	8190867	8190867	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:8190867A>G	ENST00000600128.1	-	22	3054	c.2640T>C	c.(2638-2640)tgT>tgC	p.C880C	FBN3_ENST00000601739.1_Silent_p.C880C|FBN3_ENST00000270509.2_Silent_p.C880C			Q75N90	FBN3_HUMAN	fibrillin 3			132					GCCCGTTGGGACAGACTCCCG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000600128.1	1	1	hg19	CCDS12196.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	1	0	1	29	185	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1.000000	28	183	0	102	2		0	0	0	0	103	2	-20.000000	1	1	0	0		1	0	0	0	2.018298	0	0.300000	1.870000	0.291498	0.890000	0.620000	1.000000	1.000000	0.878375	0.890000	1	7.400000e-01	1
FBXL12	54850	broad.mit.edu	37	19	9921950	9921950	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:9921950G>A	ENST00000247977.4	-	3	844	c.603C>T	c.(601-603)ctC>ctT	p.L201L	FBXL12_ENST00000591009.1_Silent_p.L148L|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.L148L|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12			10					GCAGATAGCTGAGCTCCTGCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000247977.4	1	1	hg19	CCDS12218.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	1	0	1	30	167	0	99	1	9.927314e-01	7	39	0	99	2		0	0	0	0	0	2	1	1.000000	30	162	0	97	2		0	0	0	0	99	2	-20.000000	1	1	0	0		1	0	0	0	2.018298	0	0.300000	1.870000	0.291498	0.990000	0.700000	1.000000	1.000000	0.940338	0.990000	1	8.400000e-01	1
CLCC1	23155	broad.mit.edu	37	1	109477302	109477302	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:109477302G>A	ENST00000369971.2	-	11	1775	c.1646C>T	c.(1645-1647)cCc>cTc	p.P549L	CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.P499L|CLCC1_ENST00000369970.3_Missense_Mutation_p.P499L|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.P549L|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.P364L|CLCC1_ENST00000302500.4_Missense_Mutation_p.P428L|CLCC1_ENST00000348264.2_Missense_Mutation_p.P364L|CLCC1_ENST00000369969.2_Missense_Mutation_p.P428L	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1			14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)			CTAGCCACAGGGGCTGCTGAC	0.547000																								0							SO:0001583	missense			ENST00000369971.2	1	1	hg19	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604243	0.87157	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.81	1.51	0.23008	.	0.372474	0.23454	N	0.048004	T	0.15652	0.0377	L	0.51422	1.61	0.34281	D	0.682164	B;B;B;B	0.17667	0.008;0.008;0.023;0.01	B;B;B;B	0.16289	0.011;0.011;0.009;0.015	T	0.02868	-1.1100	10	0.72032	D	0.01	-0.2661	3.6445	0.08180	0.2808:0.0:0.5081:0.2112	.	364;428;499;549	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	L	549;549;499;428;364;499;364;428	ENSP00000349456:P549L;ENSP00000358988:P549L;ENSP00000411591:P499L;ENSP00000358986:P428L;ENSP00000358985:P364L;ENSP00000358987:P499L;ENSP00000337243:P364L;ENSP00000306552:P428L	ENSP00000306552:P428L	P	-	2	0	CLCC1	109278825	0.063000	0.20901	0.224000	0.23877	0.685000	0.39939	0.037000	0.13840	0.392000	0.25172	0.655000	0.94253	CCC		TCGA-3A-A9I9-01A-11D-A38G-08	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	0	0	1	56	327	1	153	1	9.973308e-01	16	65	1	153	4		0	0	0	0	0	2	1	1.000000	56	324	1	150	11		0	0	0	1	153	2	-19.999980	1	1	0	0		1	1	2	3	2.046472	0	0.300000	1.870000	0.302094	0.970000	0.750000	1.000000	1.000000	0.943968	0.970000	1	8.600000e-01	1
WDR3	10885	broad.mit.edu	37	1	118477263	118477263	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:118477263G>C	ENST00000349139.5	+	3	386	c.339G>C	c.(337-339)ttG>ttC	p.L113F	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3			49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)			TCACTACCTTGAAGTATGATC	0.478000																								0							SO:0001583	missense			ENST00000349139.5	1	1	hg19	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756898	0.69648	.	.	ENSG00000065183	ENST00000349139	T	0.64803	-0.12	5.76	1.42	0.22433	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.169045	0.50627	D	0.000118	T	0.66426	0.2788	M	0.87758	2.905	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	T	0.66712	-0.5854	10	0.72032	D	0.01	-9.5395	3.4483	0.07488	0.1398:0.2421:0.4916:0.1265	.	113	Q9UNX4	WDR3_HUMAN	F	113	ENSP00000308179:L113F	ENSP00000308179:L113F	L	+	3	2	WDR3	118278786	1.000000	0.71417	0.937000	0.37676	0.873000	0.50193	0.594000	0.24014	0.406000	0.25560	-0.150000	0.13652	TTG		TCGA-3A-A9I9-01A-11D-A38G-08	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	1	0	0	26	399	0	121	0	1.082232e-01	1	8	0	121	2		0	0	0	0	0	2	1	1.000000	24	388	0	119	2		0	0	0	0	121	2	-6.782391	1	1	0	0		1	1	2	3	2.046472	0	0.300000	1.870000	0.302094	0.410000	0.270000	0.610000	0.410000	0.426193	0.410000	0	3.300000e-01	5.000000e-01
CFH	3075	broad.mit.edu	37	1	196695962	196695962	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:196695962T>C	ENST00000367429.4	+	14	2368	c.2128T>C	c.(2128-2130)Tac>Cac	p.Y710H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H			101					CCCTCCTTATTACTATGGAGA	0.393000																								0							SO:0001583	missense			ENST00000367429.4	1	1	hg19	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	T	1.622	-0.521227	0.04171	.	.	ENSG00000000971	ENST00000367429	T	0.64085	-0.08	5.8	1.14	0.20703	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.29882	0.0747	N	0.01003	-1.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.23476	-1.0187	9	0.39692	T	0.17	.	8.5839	0.33646	0.0:0.6377:0.0:0.3623	.	710	P08603	CFAH_HUMAN	H	710	ENSP00000356399:Y710H	ENSP00000356399:Y710H	Y	+	1	0	CFH	194962585	0.017000	0.18338	0.468000	0.27192	0.386000	0.30323	-0.083000	0.11286	0.318000	0.23185	-0.250000	0.11733	TAC		TCGA-3A-A9I9-01A-11D-A38G-08	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	1	0	1	68	365	0	59	0	9.855184e-01	0	38	0	59	2		0	0	0	0	0	2	1	1.000000	68	356	0	59	2		0	0	0	0	59	2	-20.000000	1	0	0	0		1	1	2	3	2.044382	0	0.300000	1.870000	0.301048	0.990000	0.830000	1.000000	1.000000	0.976072	0.990000	1	9.300000e-01	1
LAMB3	3914	broad.mit.edu	37	1	209799171	209799171	+	Missense_Mutation	SNP	C	C	G	rs35794952		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:209799171C>G	ENST00000356082.4	-	14	1932	c.1798G>C	c.(1798-1800)Ggt>Cgt	p.G600R	LAMB3_ENST00000391911.1_Missense_Mutation_p.G600R|LAMB3_ENST00000367030.3_Missense_Mutation_p.G600R|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3			45					CGGAGTCTACCAAAGCGCAGG	0.632000																								0							SO:0001583	missense			ENST00000356082.4	1	1	hg19	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	3.231	-0.157369	0.06544	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.34667	1.35;1.35;1.35	5.14	-3.05	0.05396	.	1.305210	0.04711	N	0.417607	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23297	-1.0192	10	0.14656	T	0.56	.	8.4291	0.32746	0.0:0.4658:0.1106:0.4235	.	600	Q13751	LAMB3_HUMAN	R	600	ENSP00000375778:G600R;ENSP00000348384:G600R;ENSP00000355997:G600R	ENSP00000348384:G600R	G	-	1	0	LAMB3	207865794	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-1.769000	0.01792	-0.858000	0.04110	0.456000	0.33151	GGT		TCGA-3A-A9I9-01A-11D-A38G-08	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	1	0	1	29	166	0	78	1	9.999999e-01	75	80	0	78	2		0	0	0	0	0	2	1	1.000000	27	160	0	75	2		0	0	0	0	78	2	-3.092606	1	1	0	0		1	0	1	1	2.038281	0	0.300000	1.870000	0.298948	0.980000	0.680000	1.000000	1.000000	0.933940	0.980000	1	8.200000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228562337	228562337	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:228562337A>G	ENST00000422127.1	+	97	22591	c.22547A>G	c.(22546-22548)aAg>aGg	p.K7516R	OBSCN_ENST00000366707.4_Missense_Mutation_p.K5150R|OBSCN_ENST00000570156.2_Missense_Mutation_p.K8473R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			GCCACCCTCAAGAACTTCCAG	0.622000																								0							SO:0001583	missense			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.954837	0.92726	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	D;D	0.82526	-1.62;-1.62	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220098	0.36628	N	0.002485	D	0.84624	0.5513	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84121	0.0406	10	0.33141	T	0.24	.	15.0022	0.71483	1.0:0.0:0.0:0.0	.	7516	Q5VST9	OBSCN_HUMAN	R	7516;5150	ENSP00000409493:K7516R;ENSP00000355668:K5150R	ENSP00000355668:K5150R	K	+	2	0	OBSCN	226628960	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.428000	0.66489	1.960000	0.56953	0.459000	0.35465	AAG		TCGA-3A-A9I9-01A-11D-A38G-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	67	458	0	281	0	1.283174e-01	0	5	0	281	2		0	0	0	0	0	2	1	1.000000	67	440	0	278	2		0	0	0	0	281	2	-20.000000	1	1	0	0		1	0	1	1	2.038281	0	0.300000	1.870000	0.298948	0.840000	0.660000	1.000000	1.000000	0.851633	0.840000	0	7.500000e-01	9.500000e-01
OR2B11	127623	broad.mit.edu	37	1	247614391	247614391	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:247614391A>G	ENST00000318749.6	-	1	917	c.894T>C	c.(892-894)aaT>aaC	p.N298N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11			60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		TCATATCTTTATTTCTCAGGG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000318749.6	1	1	hg19	CCDS31090.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	1	0	1	217	1031	0	521		0	0	0	0	521	2		0	0	0	0	0	2	1	1.000000	215	1009	0	515	2		0	0	0	0	521	2	-20.000000	1	1	0	0		1	0	1	1	2.038281	0	0.300000	1.870000	0.298948	0.990000	0.990000	1.000000	1.000000	0.999748	0.990000	1	9.900000e-01	1
PUM1	9698	broad.mit.edu	37	1	31409636	31409636	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:31409636C>T	ENST00000257075.5	-	21	3376	c.3283G>A	c.(3283-3285)Gct>Act	p.A1095T	PUM1_ENST00000423018.2_Missense_Mutation_p.A953T|PUM1_ENST00000424085.2_Missense_Mutation_p.A853T|PUM1_ENST00000373747.3_Missense_Mutation_p.A1098T|PUM1_ENST00000373741.4_Missense_Mutation_p.A1133T|PUM1_ENST00000440538.2_Missense_Mutation_p.A1071T|PUM1_ENST00000426105.2_Missense_Mutation_p.A1097T|SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000373742.2_Missense_Mutation_p.A1036T	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1			48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)			ATGAGCACAGCGCGCTCCGTA	0.507000																								0							SO:0001583	missense			ENST00000257075.5	1	1	hg19	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.261608|4.261608	0.80358|0.80358	0.0|0.0	1.16E-4|1.16E-4	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T;T|T;T	0.13538|0.17213	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58|2.29;2.29	5.78|5.78	5.78|5.78	0.91487|0.91487	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33847|0.33847	0.0877|0.0877	L|L	0.48877|0.48877	1.53|1.53	0.80722|0.80722	D|D	1|1	P;B;B;P;P;B;P;B|.	0.39250|.	0.643;0.326;0.185;0.665;0.643;0.185;0.643;0.257|.	B;B;B;B;B;B;B;B|.	0.26614|.	0.065;0.032;0.015;0.071;0.065;0.007;0.065;0.065|.	T|T	0.00847|0.00847	-1.1542|-1.1542	10|7	0.39692|0.87932	T|D	0.17|0	-7.352|-7.352	20.0137|20.0137	0.97470|0.97470	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1036;953;1133;1071;1095;1097;1098;1097|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	T|H	853;1095;1098;835;1097;1071;1133;953;1036;206|1033;808	ENSP00000400141:A853T;ENSP00000257075:A1095T;ENSP00000362852:A1098T;ENSP00000391723:A1097T;ENSP00000401777:A1071T;ENSP00000362846:A1133T;ENSP00000399440:A953T;ENSP00000362847:A1036T;ENSP00000431213:A206T|ENSP00000435825:R1033H;ENSP00000433850:R808H	ENSP00000257075:A1095T|ENSP00000433850:R808H	A|R	-|-	1|2	0|0	PUM1|PUM1	31182223|31182223	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.705000|0.705000	0.40729|0.40729	7.818000|7.818000	0.86416|0.86416	2.734000|2.734000	0.93682|0.93682	0.563000|0.563000	0.77884|0.77884	GCT|CGC		TCGA-3A-A9I9-01A-11D-A38G-08	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1	1	0	0	11	201	0	103	0	7.459652e-01	0	50	0	103	2		0	0	0	0	0	2	1	0.998338	11	198	0	103	2		0	0	0	0	103	2	-3.074004	1	1	121412	1	35	1	0	1	1	1.742108	1	0.300000	1.870000	0.176471	0.290000	0.150000	0.480000	0.290000	0.310791	0.290000	0	2.100000e-01	3.900000e-01
THRAP3	9967	broad.mit.edu	37	1	36752630	36752630	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752630C>T	ENST00000354618.5	+	4	1023	c.799C>T	c.(799-801)Cct>Tct	p.P267S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3			37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			GTCACCCCGTCCTAGCCCCGT	0.617000			T	USP6	aneurysmal bone cysts								Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0							SO:0001583	missense			ENST00000354618.5	1	1	hg19	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846324	0.71603	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.12879	2.64;2.64	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.34454	0.0898	L	0.56769	1.78	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.00883	-1.1528	10	0.20046	T	0.44	-12.8835	19.1531	0.93496	0.0:1.0:0.0:0.0	.	267	Q9Y2W1	TR150_HUMAN	S	267	ENSP00000346634:P267S;ENSP00000433825:P267S	ENSP00000346634:P267S	P	+	1	0	THRAP3	36525217	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	3.482000	0.53186	2.753000	0.94483	0.655000	0.94253	CCT		TCGA-3A-A9I9-01A-11D-A38G-08	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	1	0	1	90	390	0	175	1	9.796036e-01	3	26	0	175	2		0	0	0	0	0	2	1	1.000000	89	383	0	170	2		0	0	0	0	175	2	-20.000000	1	1	0	0		1	1	2	3	2.084625	0	0.300000	1.870000	0.309324	0.990000	0.990000	1.000000	1.000000	0.999707	0.990000	1	9.900000e-01	1
THRAP3	9967	broad.mit.edu	37	1	36752631	36752631	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752631C>T	ENST00000354618.5	+	4	1024	c.800C>T	c.(799-801)cCt>cTt	p.P267L	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3			37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			TCACCCCGTCCTAGCCCCGTG	0.617000			T	USP6	aneurysmal bone cysts								Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0							SO:0001583	missense			ENST00000354618.5	1	1	hg19	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962964	0.74016	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.12879	2.64;2.64	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.33876	0.0878	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00589	-1.1656	10	0.59425	D	0.04	-12.8835	19.1531	0.93496	0.0:1.0:0.0:0.0	.	267	Q9Y2W1	TR150_HUMAN	L	267	ENSP00000346634:P267L;ENSP00000433825:P267L	ENSP00000346634:P267L	P	+	2	0	THRAP3	36525218	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	3.482000	0.53186	2.753000	0.94483	0.655000	0.94253	CCT		TCGA-3A-A9I9-01A-11D-A38G-08	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	1	0	1	91	401	0	173	1	9.781006e-01	3	26	0	173	2		0	0	0	0	0	2	1	1.000000	90	394	0	168	2		0	0	0	0	173	2	-3.121901	1	1	0	0		1	1	2	3	2.084625	0	0.300000	1.870000	0.309324	0.990000	0.990000	1.000000	1.000000	0.999589	0.990000	1	9.900000e-01	1
BLCAP	10904	broad.mit.edu	37	20	36147320	36147320	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:36147320C>G	ENST00000373537.2	-	2	571	c.257G>C	c.(256-258)gGc>gCc	p.G86A	BLCAP_ENST00000397131.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397135.1_Missense_Mutation_p.G86A|BLCAP_ENST00000414542.2_Missense_Mutation_p.G86A|NNAT_ENST00000346199.2_5'Flank|BLCAP_ENST00000397137.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397134.1_Missense_Mutation_p.G86A|NNAT_ENST00000062104.2_5'Flank	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein			5		Myeloproliferative disorder(115;0.00878)			CCGTTAGGTGCCCACAACGCC	0.552000																								0							SO:0001583	missense			ENST00000373537.2	1	1	hg19	CCDS13295.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050067	0.75846	.	.	ENSG00000166619	ENST00000373537;ENST00000397137;ENST00000414542;ENST00000397135;ENST00000397134;ENST00000397131;ENST00000432507	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	T	0.80108	-0.1520	8	0.87932	D	0	.	15.7067	0.77588	0.0:1.0:0.0:0.0	.	86	P62952	BLCAP_HUMAN	A	86	.	ENSP00000362637:G86A	G	-	2	0	BLCAP	35580734	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.842000	0.69417	2.554000	0.86153	0.585000	0.79938	GGC		TCGA-3A-A9I9-01A-11D-A38G-08	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079113.2	1	0	1	39	243	0	109	1	9.998603e-01	19	67	0	109	2		0	0	0	0	0	2	1	1.000000	39	240	0	108	2		0	0	0	0	109	2	-3.320611	1	1	0	0		1	0	1	1	2.032123	0	0.300000	1.870000	0.297894	0.910000	0.670000	1.000000	1.000000	0.901667	0.910000	1	7.800000e-01	1
KCNK15	60598	broad.mit.edu	37	20	43374752	43374752	+	Silent	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:43374752C>A	ENST00000372861.3	+	1	332	c.201C>A	c.(199-201)ctC>ctA	p.L67L	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15			10		Myeloproliferative disorder(115;0.0122)			GCCTGGCGCTCCAGGCTGAGC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000372861.3	1	1	hg19	CCDS13337.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	KCNK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079378.2	1	0	0	34	86	0	41	1	9.747446e-01	4	14	0	41	2		0	0	0	0	0	2	1	1.000000	33	86	0	41	2		0	0	0	0	41	2	-20.000000	1	1	0	0		1	1	2	3	2.305382	1	0.300000	1.870000	0.382444	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61512310	61512310	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:61512310G>T	ENST00000266070.4	-	16	5323	c.4998C>A	c.(4996-4998)ggC>ggA	p.G1666G	DIDO1_ENST00000395343.1_Silent_p.G1666G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				GCTGCAGGGCGCCGCAAGGCG	0.726000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001819	synonymous_variant			ENST00000266070.4	1	1	hg19	CCDS33506.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1	35	100	0	61	1	8.497495e-01	4	8	0	61	2		0	0	0	0	0	2	1	1.000000	34	99	0	61	2		0	0	0	0	61	2	-20.000000	1	1	0	0		1	1	2	3	2.305382	1	0.300000	1.870000	0.382444	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
BRWD1	54014	broad.mit.edu	37	21	40571514	40571514	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:40571514T>A	ENST00000333229.2	-	40	5155	c.4828A>T	c.(4828-4830)Aat>Tat	p.N1610Y	BRWD1_ENST00000342449.3_Missense_Mutation_p.N1610Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.N1610Y	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1			58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)			TCCAATGAATTGTTATCAGAA	0.373000											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	Melanoma(170;988 1986 4794 16843 39731)											0							SO:0001583	missense			ENST00000333229.2	1	1	hg19	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510435	0.64522	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56103	0.48;0.52;0.6	5.19	4.01	0.46588	.	0.410373	0.22711	N	0.056578	T	0.59088	0.2168	M	0.64997	1.995	0.80722	D	1	P;P	0.49185	0.92;0.561	P;B	0.51135	0.66;0.128	T	0.60840	-0.7183	10	0.72032	D	0.01	-9.7638	11.0953	0.48141	0.0:0.0:0.1544:0.8456	.	1610;1610	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	Y	1610	ENSP00000330753:N1610Y;ENSP00000344333:N1610Y;ENSP00000370178:N1610Y	ENSP00000330753:N1610Y	N	-	1	0	BRWD1	39493384	1.000000	0.71417	0.928000	0.36995	0.993000	0.82548	1.889000	0.39718	0.783000	0.33636	0.460000	0.39030	AAT		TCGA-3A-A9I9-01A-11D-A38G-08	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	0	0	0	35	791	0	168	0	1.526921e-01	0	16	0	168	2		0	0	0	0	0	2	1	1.000000	36	775	0	167	2		0	0	0	0	168	2	-20.000000	1	1	0	0		1	1	4	5	2.681246	1	0.300000	1.870000	0.474869	0.390000	0.260000	1.000000	0.380000	0.499059	0.390000	0	3.200000e-01	1
KRTAP10-9	386676	broad.mit.edu	37	21	46047922	46047922	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:46047922C>T	ENST00000397911.3	+	1	883	c.834C>T	c.(832-834)cgC>cgT	p.R278R	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9			9					TGTGCTCCCGCCCGGCCTGCT	0.692000																								0							SO:0001819	synonymous_variant			ENST00000397911.3	1	1	hg19	CCDS42961.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1	1	0	1	70	338	0	241		0	0	0	0	241	2		0	0	0	0	0	2	1	1.000000	68	326	0	235	2		0	0	0	0	241	2	-3.257765	1	1	121344	1	32	1	0	1	1	1.684932	1	0.300000	1.870000	0.176471	0.910000	0.750000	1.000000	0.960000	0.907808	0.910000	1	8.300000e-01	9.800000e-01
CACNG2	10369	broad.mit.edu	37	22	36962506	36962506	+	Silent	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr22:36962506C>A	ENST00000300105.6	-	3	1311	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2			18					GAATCACACTCAGGATTGGGA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000300105.6	1	1	hg19	CCDS13931.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2	1	0	1	41	233	0	140		0	0	0	0	140	2		0	0	0	0	0	2	1	1.000000	41	228	0	139	2		0	0	0	0	140	2	-3.326822	1	1	0	0		1	1	2	3	2.061585	0	0.300000	1.870000	0.305211	0.990000	0.740000	1.000000	1.000000	0.951366	0.990000	1	8.600000e-01	1
DPP10	57628	broad.mit.edu	37	2	116510788	116510788	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:116510788C>A	ENST00000410059.1	+	11	1469	c.989C>A	c.(988-990)aCc>aAc	p.T330N	DPP10_ENST00000310323.8_Missense_Mutation_p.T323N|DPP10_ENST00000409163.1_Missense_Mutation_p.T280N|DPP10_ENST00000393147.2_Missense_Mutation_p.T334N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)			101					GTAAGCAATACCAAGACTGTG	0.363000																								0							SO:0001583	missense			ENST00000410059.1	1	1	hg19	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190021	0.78789	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.1	5.1	0.69264	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.46614	1.455	0.80722	D	1	P;D;D;P	0.76494	0.883;0.999;0.963;0.904	P;D;P;P	0.85130	0.61;0.997;0.73;0.73	T	0.27773	-1.0064	10	0.33940	T	0.23	-11.7935	17.6852	0.88255	0.0:1.0:0.0:0.0	.	323;334;326;330	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	330;280;334;323;280	ENSP00000386565:T330N;ENSP00000387038:T280N;ENSP00000376855:T334N;ENSP00000309066:T323N	ENSP00000309066:T323N	T	+	2	0	DPP10	116227258	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.299000	0.78831	2.660000	0.90430	0.650000	0.86243	ACC		TCGA-3A-A9I9-01A-11D-A38G-08	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	1	0	1	37	257	0	61	0	0	0	1	0	61	2		0	0	0	0	0	2	1	1.000000	38	252	0	60	2		0	0	0	0	61	2	-20.000000	1	1	0	0		1	0	0	0	2.005415	0	0.300000	1.870000	0.287169	0.820000	0.590000	1.000000	1.000000	0.826766	0.820000	0	7.000000e-01	9.500000e-01
CCDC148	130940	broad.mit.edu	37	2	159077147	159077147	+	Nonsense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:159077147T>A	ENST00000283233.5	-	11	1643	c.1330A>T	c.(1330-1332)Aag>Tag	p.K444*	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Nonsense_Mutation_p.K453*	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148			23					ATTAATTTCTTCAGTTCTTCT	0.328000																								0							SO:0001587	stop_gained			ENST00000283233.5	0	1	hg19	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	38	7.213421	0.98139	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6426	13.8506	0.63494	0.0:0.0:0.0:1.0	.	.	.	.	X	444;453	.	ENSP00000283233:K444X	K	-	1	0	CCDC148	158785393	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.843000	0.62838	2.203000	0.70933	0.460000	0.39030	AAG		TCGA-3A-A9I9-01A-11D-A38G-08	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	1	0	1	41	317	0	69	0	7.013909e-02	1	3	0	69	2		0	0	0	0	0	2	1	1.000000	41	307	0	67	2		0	0	0	0	69	2	-20.000000	1	1	0	0		1	0	0	0	2.005415	0	0.300000	1.870000	0.287169	0.740000	0.550000	0.970000	0.750000	0.757564	0.740000	0	6.400000e-01	8.600000e-01
TTN	7273	broad.mit.edu	37	2	179456474	179456474	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179456474C>G	ENST00000591111.1	-	253	55373	c.55149G>C	c.(55147-55149)tgG>tgC	p.W18383C	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W17456C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W10959C|TTN_ENST00000589042.1_Missense_Mutation_p.W20024C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W11151C|TTN_ENST00000359218.5_Missense_Mutation_p.W11084C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TAAATTTAATCCAGTCCTGGG	0.423000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.41	2.824565	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85440	0.5697	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90151	0.4221	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10959;11084;11151;18383	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	17456;10959;11151;11084;10957	ENSP00000343764:W17456C;ENSP00000434586:W10959C;ENSP00000340554:W11151C;ENSP00000352154:W11084C	ENSP00000340554:W11151C	W	-	3	0	TTN	179164720	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	TGG		TCGA-3A-A9I9-01A-11D-A38G-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	11	484	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	0.998272	12	478	0	57	2		0	0	0	0	58	2	-3.060826	1	1	0	0		1	0	0	0	2.005415	0	0.300000	1.870000	0.287169	0.140000	0.070000	0.250000	0.150000	0.157273	0.140000	0	1.000000e-01	2.000000e-01
TTN	7273	broad.mit.edu	37	2	179638079	179638079	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179638079C>T	ENST00000591111.1	-	33	7836	c.7612G>A	c.(7612-7614)Ggt>Agt	p.G2538S	TTN_ENST00000360870.5_Missense_Mutation_p.G2538S|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2538S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G2492S|TTN_ENST00000589042.1_Missense_Mutation_p.G2538S|TTN_ENST00000342175.6_Missense_Mutation_p.G2492S|TTN_ENST00000359218.5_Missense_Mutation_p.G2492S|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TCACGAAGACCTCTGATAATT	0.353000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.09	2.134330	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.82	5.82	0.92795	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75079	0.3801	L	0.42581	1.335	0.28955	N	0.890175	D;D;D;D;D	0.76494	0.978;0.978;0.978;0.989;0.999	P;P;P;P;D	0.69479	0.871;0.871;0.871;0.871;0.964	T	0.70737	-0.4790	9	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	2492;2492;2492;2538;2538	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	2538;2492;2492;2492;2492;2538	ENSP00000343764:G2538S;ENSP00000434586:G2492S;ENSP00000340554:G2492S;ENSP00000352154:G2492S;ENSP00000354117:G2538S	ENSP00000340554:G2492S	G	-	1	0	TTN	179346324	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.965000	0.63708	2.765000	0.95021	0.650000	0.86243	GGT		TCGA-3A-A9I9-01A-11D-A38G-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	52	279	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1.000000	52	273	0	72	2		0	0	0	0	72	2	-3.233193	1	1	0	0		1	1	2	3	2.071217	0	0.300000	1.870000	0.326275	0.990000	0.840000	1.000000	1.000000	0.984592	0.990000	1	9.700000e-01	1
ITGA4	3676	broad.mit.edu	37	2	182347132	182347132	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:182347132G>C	ENST00000397033.2	+	8	1316	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)			58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)	Natalizumab(DB00108)|Tinzaparin(DB06822)	TATCTTACATGAAATGAAAGG	0.308000																								0							SO:0001583	missense			ENST00000397033.2	1	1	hg19	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490462	0.44249	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.14516	2.5;2.5	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.37697	1.125	0.52501	D	0.999957	B;D	0.54772	0.22;0.968	B;P	0.51016	0.109;0.656	T	0.02020	-1.1228	10	0.13108	T	0.6	.	20.327	0.98704	0.0:0.0:1.0:0.0	.	296;296	E7EP60;P13612	.;ITA4_HUMAN	Q	296	ENSP00000380227:E296Q;ENSP00000233573:E296Q	ENSP00000233573:E296Q	E	+	1	0	ITGA4	182055377	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.846000	0.69444	2.794000	0.96219	0.650000	0.86243	GAA		TCGA-3A-A9I9-01A-11D-A38G-08	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1	1	0	0	18	396	0	64	0	6.351562e-03	0	3	0	64	2		0	0	0	0	0	2	1	0.999981	18	391	0	63	2		0	0	0	0	64	2	-4.641127	1	1	0	0		1	1	2	3	2.071217	0	0.300000	1.870000	0.326275	0.320000	0.180000	1.000000	0.300000	0.441090	0.320000	0	2.400000e-01	1
SLC11A1	6556	broad.mit.edu	37	2	219251895	219251895	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251895G>C	ENST00000233202.6	+	6	853	c.513G>C	c.(511-513)tgG>tgC	p.W171C	SLC11A1_ENST00000539932.1_Missense_Mutation_p.W53C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1			19		Renal(207;0.0474)			TCCCACTCTGGGGTGGCGTCC	0.602000																								0							SO:0001583	missense			ENST00000233202.6	1	1	hg19	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866221	0.71949	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.70516	-0.49;-0.49	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.88544	0.6465	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.971;0.995;0.995	D	0.91207	0.4996	10	0.87932	D	0	-12.7329	18.8984	0.92433	0.0:0.0:1.0:0.0	.	171;53;171	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	C	171;53	ENSP00000233202:W171C;ENSP00000443435:W53C	ENSP00000233202:W171C	W	+	3	0	SLC11A1	218960139	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.007000	0.70731	2.694000	0.91930	0.655000	0.94253	TGG		TCGA-3A-A9I9-01A-11D-A38G-08	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	1	0	1	31	230	0	125	0	9.257395e-01	0	35	0	125	2		0	0	0	0	0	2	1	1.000000	31	228	0	125	2		0	0	0	0	125	2	-2.559266	1	1	121412	1	33	1	1	2	3	2.071217	0	0.300000	1.870000	0.326275	0.860000	0.580000	1.000000	1.000000	0.858611	0.860000	1	7.100000e-01	1
SLC11A1	6556	broad.mit.edu	37	2	219251897	219251897	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251897G>T	ENST00000233202.6	+	6	855	c.515G>T	c.(514-516)gGt>gTt	p.G172V	SLC11A1_ENST00000539932.1_Missense_Mutation_p.G54V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1			19		Renal(207;0.0474)			CCACTCTGGGGTGGCGTCCTC	0.602000																								0							SO:0001583	missense			ENST00000233202.6	1	1	hg19	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765423	0.49574	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.66280	-0.2;-0.2	5.18	4.29	0.51040	.	0.066829	0.64402	D	0.000008	T	0.62307	0.2417	L	0.35341	1.055	0.80722	D	1	B;B;B	0.33739	0.016;0.422;0.422	B;P;B	0.46452	0.017;0.517;0.363	T	0.62774	-0.6783	10	0.41790	T	0.15	-6.105	14.3044	0.66375	0.0723:0.0:0.9277:0.0	.	172;54;172	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	V	172;54	ENSP00000233202:G172V;ENSP00000443435:G54V	ENSP00000233202:G172V	G	+	2	0	SLC11A1	218960141	0.998000	0.40836	0.883000	0.34634	0.757000	0.42996	2.602000	0.46257	1.380000	0.46344	0.655000	0.94253	GGT		TCGA-3A-A9I9-01A-11D-A38G-08	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	1	0	1	30	235	0	131	0	8.945898e-01	0	33	0	131	2		0	0	0	0	0	2	1	1.000000	30	234	0	131	2		0	0	0	0	131	2	-12.816680	1	1	0	0		1	1	2	3	2.071217	0	0.300000	1.870000	0.326275	0.820000	0.550000	1.000000	1.000000	0.830988	0.820000	0	6.700000e-01	1
CRYBA2	1412	broad.mit.edu	37	2	219856841	219856841	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219856841G>A	ENST00000295728.2	-	2	522	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	CRYBA2_ENST00000392096.2_Missense_Mutation_p.R96W|CRYBA2_ENST00000487181.1_5'Flank	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2			5		Renal(207;0.0474)			AGCACTGGCCGGAAGGACAGC	0.622000																								0							SO:0001583	missense			ENST00000295728.2	0	1	hg19	CCDS2429.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299333	0.60195	.	.	ENSG00000163499	ENST00000392096;ENST00000295728;ENST00000453769	D;D;D	0.83163	-1.69;-1.69;-1.69	4.65	1.67	0.24075	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.109256	0.56097	D	0.000022	D	0.92903	0.7742	M	0.94142	3.5	0.49798	D	0.999823	D	0.89917	1.0	D	0.87578	0.998	D	0.93478	0.6825	10	0.87932	D	0	.	14.747	0.69496	0.0:0.0:0.6235:0.3765	.	96	P53672	CRBA2_HUMAN	W	96	ENSP00000375946:R96W;ENSP00000295728:R96W;ENSP00000395120:R96W	ENSP00000295728:R96W	R	-	1	2	CRYBA2	219565085	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.688000	0.37690	-0.008000	0.14320	-0.808000	0.03180	CGG		TCGA-3A-A9I9-01A-11D-A38G-08	CRYBA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336424.1	0	0	0	4	137	0	75	0	1.604477e-01	0	20	0	75	2		0	0	0	0	0	2	1	0.882796	4	132	0	73	2		0	0	0	0	75	2	-6.352010	1	1	121396	14	37	1	1	2	3	2.071217	0	0.300000	1.870000	0.326275	0.240000	0.070000	1.000000	0.200000	0.379000	0.240000	0	1.400000e-01	1
CHPF	79586	broad.mit.edu	37	2	220406647	220406647	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:220406647G>T	ENST00000243776.6	-	2	827	c.579C>A	c.(577-579)gaC>gaA	p.D193E	CHPF_ENST00000373891.2_Missense_Mutation_p.D193E|TMEM198_ENST00000373883.3_5'Flank|TMEM198_ENST00000344458.2_5'Flank|CHPF_ENST00000535926.1_Missense_Mutation_p.D31E	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor			21		Renal(207;0.0183)			GGAAGAACCAGTCAAAGTCGT	0.672000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000243776.6	0	1	hg19	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294157	0.81025	.	.	ENSG00000123989	ENST00000243776;ENST00000535926;ENST00000373891	T;T	0.19394	2.15;2.44	4.41	1.63	0.23807	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.49571	1.57	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.91635	0.994;0.999	T	0.02603	-1.1135	10	0.23302	T	0.38	-31.7198	9.132	0.36850	0.2372:0.0:0.7628:0.0	.	193;193	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	E	193;31;193	ENSP00000243776:D193E;ENSP00000445571:D31E	ENSP00000243776:D193E	D	-	3	2	CHPF	220114891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.600000	0.61083	0.242000	0.21303	0.549000	0.68633	GAC		TCGA-3A-A9I9-01A-11D-A38G-08	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	0	0	0	4	87	0	53	1	9.687469e-01	9	142	0	53	2		0	0	0	0	0	2	1	0.889366	4	86	0	53	2		0	0	0	0	53	2	-7.811913	1	1	0	0		1	1	2	3	2.071217	0	0.300000	1.870000	0.326275	0.380000	0.120000	1.000000	0.310000	0.481176	0.380000	0	2.200000e-01	1
COL4A4	1286	broad.mit.edu	37	2	227875104	227875104	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:227875104C>A	ENST00000396625.3	-	46	4654	c.4447G>T	c.(4447-4449)Ggc>Tgc	p.G1483C	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1480C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4			98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)			CTGGGCATGCCCAGGGGGCAG	0.577000																								0							SO:0001583	missense			ENST00000396625.3	1	1	hg19	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378418	0.61735	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.95412	-3.7;-3.7	5.69	4.82	0.62117	C-type lectin fold (1);	.	.	.	.	D	0.98476	0.9492	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99433	1.0936	9	0.87932	D	0	.	14.6375	0.68699	0.0:0.9302:0.0:0.0698	.	1483	P53420	CO4A4_HUMAN	C	1483;1480	ENSP00000379866:G1483C;ENSP00000328553:G1480C	ENSP00000328553:G1480C	G	-	1	0	COL4A4	227583348	1.000000	0.71417	0.985000	0.45067	0.807000	0.45602	7.745000	0.85046	1.418000	0.47098	-0.136000	0.14681	GGC		TCGA-3A-A9I9-01A-11D-A38G-08	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	1	0	1	45	290	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1.000000	45	281	0	113	2		0	0	0	0	115	2	-19.722120	1	1	0	0		1	1	2	3	2.071217	0	0.300000	1.870000	0.326275	0.960000	0.700000	1.000000	1.000000	0.928347	0.960000	1	8.200000e-01	1
THAP4	51078	broad.mit.edu	37	2	242572368	242572368	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:242572368C>T	ENST00000407315.1	-	2	1635	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4			9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)			GGATAGGGGACGCTCACTCTC	0.627000																								0							SO:0001583	missense			ENST00000407315.1	1	1	hg19	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	2.394	-0.339085	0.05243	.	.	ENSG00000176946	ENST00000407315;ENST00000512346	D	0.95554	-3.74	5.22	-10.4	0.00318	.	.	.	.	.	T	0.81064	0.4745	N	0.03608	-0.345	0.24018	N	0.996156	B	0.02656	0.0	B	0.01281	0.0	T	0.71431	-0.4595	9	0.21540	T	0.41	-1.1688	1.6018	0.02675	0.138:0.3253:0.2302:0.3065	.	402	Q8WY91	THAP4_HUMAN	I	402;77	ENSP00000385006:V402I	ENSP00000385006:V402I	V	-	1	0	THAP4	242221041	0.234000	0.23783	0.000000	0.03702	0.462000	0.32619	-0.598000	0.05706	-3.708000	0.00117	-2.089000	0.00373	GTC		TCGA-3A-A9I9-01A-11D-A38G-08	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	1	0	0	6	91	0	55	1	9.592442e-01	10	81	0	55	2		0	0	0	0	0	2	1	0.966557	6	91	0	55	2		0	0	0	0	55	2	-10.262600	1	1	121408	2	27	1	1	2	3	2.071217	0	0.300000	1.870000	0.326275	0.500000	0.200000	1.000000	0.430000	0.574896	0.500000	0	3.200000e-01	1
TMEM214	54867	broad.mit.edu	37	2	27261588	27261588	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:27261588G>C	ENST00000238788.9	+	12	1374	c.1312G>C	c.(1312-1314)Gaa>Caa	p.E438Q	TMEM214_ENST00000404032.3_Missense_Mutation_p.E393Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214			18					GTCTTTGCAAGAAACCATTCA	0.512000																								0							SO:0001583	missense			ENST00000238788.9	0	1	hg19	CCDS42664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.239182|4.239182	0.79800|0.79800	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000444135|ENST00000425720	T;T;T|.	0.46819|.	0.86;0.86;0.86|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.088644|.	0.85682|.	D|.	0.000000|.	T|T	0.74718|0.74718	0.3753|0.3753	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.67145|.	0.996;0.985|.	P;D|.	0.63113|.	0.902;0.911|.	T|T	0.73613|0.73613	-0.3927|-0.3927	10|5	0.40728|.	T|.	0.16|.	-12.2017|-12.2017	16.735|16.735	0.85444|0.85444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	393;438|.	Q6NUQ4-2;Q6NUQ4|.	.;TM214_HUMAN|.	Q|N	438;393;178;98|222	ENSP00000238788:E438Q;ENSP00000384417:E393Q;ENSP00000392442:E98Q|.	ENSP00000238788:E438Q|.	E|K	+|+	1|3	0|2	TMEM214|TMEM214	27115092|27115092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.607000|7.607000	0.82883|0.82883	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	GAA|AAG		TCGA-3A-A9I9-01A-11D-A38G-08	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	0	0	0	9	99	0	71	1	9.816753e-01	8	73	0	71	2		0	0	0	0	0	2	1	0.994403	9	97	0	69	2		0	0	0	0	71	2	-14.358330	1	1	0	0		1	0	1	1	1.715785	1	0.300000	1.870000	0.176471	0.470000	0.230000	0.780000	0.450000	0.492032	0.470000	0	3.400000e-01	6.300000e-01
PRKD3	23683	broad.mit.edu	37	2	37520399	37520399	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:37520399A>C	ENST00000379066.1	-	3	1066	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	PRKD3_ENST00000234179.2_Missense_Mutation_p.F102V			O94806	KPCD3_HUMAN	protein kinase D3			33		all_hematologic(82;0.21)			ATGCCAAAGAATCCACACTCT	0.333000													Melanoma(80;621 1355 8613 11814 51767)											0							SO:0001583	missense			ENST00000379066.1	0	1	hg19	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260900	0.80246	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.65549	-0.16;-0.16	5.32	4.13	0.48395	.	0.056727	0.64402	N	0.000001	T	0.62986	0.2473	L	0.47716	1.5	0.58432	D	0.999999	P;B	0.36633	0.562;0.427	P;B	0.45794	0.493;0.235	T	0.62553	-0.6830	10	0.49607	T	0.09	-12.2843	12.4041	0.55430	0.8592:0.1408:0.0:0.0	.	102;102	O94806-2;O94806	.;KPCD3_HUMAN	V	102	ENSP00000368356:F102V;ENSP00000234179:F102V	ENSP00000234179:F102V	F	-	1	0	PRKD3	37373903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	0.914000	0.36822	0.533000	0.62120	TTC		TCGA-3A-A9I9-01A-11D-A38G-08	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	0	0	0	9	462	0	190	0	1.241830e-02	0	8	0	190	2		0	0	0	0	0	2	1	0.993406	8	448	0	186	2		0	0	0	0	190	2	-8.380415	1	1	0	0		1	0	1	1	1.726450	1	0.300000	1.870000	0.176471	0.100000	0.050000	0.190000	0.110000	0.118611	0.100000	0	7.000000e-02	1.500000e-01
SOCS5	9655	broad.mit.edu	37	2	46987120	46987120	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:46987120T>C	ENST00000306503.5	+	2	1623	c.1451T>C	c.(1450-1452)cTg>cCg	p.L484P	SOCS5_ENST00000394861.2_Missense_Mutation_p.L484P	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5			22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)		CCTTTTAGCCTGCAGTATATC	0.398000																								0							SO:0001583	missense			ENST00000306503.5	1	1	hg19	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543224	0.65198	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.94497	-3.44;-3.44	5.43	5.43	0.79202	SOCS protein, C-terminal (4);SH2 motif (1);	0.000000	0.64402	D	0.000001	D	0.98229	0.9414	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99597	1.0977	10	0.87932	D	0	-13.9042	15.3001	0.73940	0.0:0.0:0.0:1.0	.	484	O75159	SOCS5_HUMAN	P	484	ENSP00000305133:L484P;ENSP00000378330:L484P	ENSP00000305133:L484P	L	+	2	0	SOCS5	46840624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.279000	0.76181	0.533000	0.62120	CTG		TCGA-3A-A9I9-01A-11D-A38G-08	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2	1	0	1	95	381	0	138	1	6.760566e-01	2	9	0	138	2		0	0	0	0	0	2	1	1.000000	91	376	0	138	2		0	0	0	0	138	2	-20.000000	1	1	0	0		1	0	1	1	1.726450	1	0.300000	1.870000	0.176471	0.960000	0.850000	1.000000	0.990000	0.958236	0.960000	1	9.100000e-01	9.900000e-01
SMEK2	57223	broad.mit.edu	37	2	55795477	55795477	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:55795477C>T	ENST00000345102.5	-	13	2089	c.1788G>A	c.(1786-1788)cgG>cgA	p.R596R	SMEK2_ENST00000272313.5_Silent_p.R511R|SMEK2_ENST00000407823.3_Silent_p.R564R|SNORA12_ENST00000390873.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)			16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		GTCCAATTATCCGCCTCATAA	0.313000																								0							SO:0001819	synonymous_variant			ENST00000345102.5	1	1	hg19	CCDS46289.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	1	0	1	57	285	0	96	1	9.949058e-01	6	37	0	96	2		0	0	0	0	0	2	1	1.000000	56	281	0	95	2		0	0	0	0	96	2	-3.250900	1	1	0	0		1	0	1	1	1.726450	1	0.300000	1.870000	0.176471	0.890000	0.710000	1.000000	0.930000	0.887821	0.890000	1	8.000000e-01	9.700000e-01
SIDT1	54847	broad.mit.edu	37	3	113320452	113320452	+	Missense_Mutation	SNP	G	G	C	rs138220562		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:113320452G>C	ENST00000264852.4	+	11	1789	c.1063G>C	c.(1063-1065)Gca>Cca	p.A355P	SIDT1_ENST00000393830.3_Missense_Mutation_p.A355P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1			50					AAATATGGTGGCATCTCATCC	0.413000																								0							SO:0001583	missense			ENST00000264852.4	1	1	hg19	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	4.852	0.158347	0.09236	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.23348	1.91;1.91	6.17	4.37	0.52481	.	0.722817	0.12743	N	0.442876	T	0.21468	0.0517	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.11591	-1.0581	10	0.33940	T	0.23	-4.7062	9.7877	0.40686	0.0667:0.0:0.6671:0.2661	.	355;355	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	P	355	ENSP00000264852:A355P;ENSP00000377416:A355P	ENSP00000264852:A355P	A	+	1	0	SIDT1	114803142	0.002000	0.14202	0.038000	0.18304	0.115000	0.19883	1.111000	0.31159	1.607000	0.50170	-0.181000	0.13052	GCA		TCGA-3A-A9I9-01A-11D-A38G-08	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	1	0	0	10	223	0	61	0	0	0	1	0	61	2		0	0	0	0	0	2	1	0.996932	10	221	0	60	2		0	0	0	0	61	2	-4.333398	1	1	0	0		1	1	2	3	2.050663	0	0.300000	1.870000	0.302094	0.290000	0.150000	0.540000	0.290000	0.316662	0.290000	0	2.100000e-01	4.000000e-01
GRAMD1C	54762	broad.mit.edu	37	3	113595066	113595066	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:113595066C>T	ENST00000358160.4	+	5	910	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C			26					AACTGCTCGACTCATCCCAAA	0.303000																								0							SO:0001583	missense			ENST00000358160.4	1	1	hg19	CCDS33826.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.99	3.273860	0.59649	4.54E-4	0.0	ENSG00000178075	ENST00000358160	T	0.37584	1.19	5.2	4.33	0.51752	.	0.154190	0.40728	N	0.001026	T	0.39682	0.1087	M	0.79123	2.44	0.80722	D	1	B	0.25521	0.128	B	0.19666	0.026	T	0.37888	-0.9686	10	0.59425	D	0.04	.	11.6383	0.51217	0.0:0.9126:0.0:0.0874	.	140	Q8IYS0	GRM1C_HUMAN	F	140	ENSP00000350881:L140F	ENSP00000350881:L140F	L	+	1	0	GRAMD1C	115077756	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.219000	0.42899	1.331000	0.45412	0.655000	0.94253	CTC		TCGA-3A-A9I9-01A-11D-A38G-08	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	1	0	1	80	441	0	176	0	0	0	1	0	176	2		0	0	0	0	0	2	1	1.000000	79	428	0	175	2		0	0	0	0	176	2	-20.000000	1	1	121412	16	47	1	1	2	3	2.050663	0	0.300000	1.870000	0.302094	0.990000	0.820000	1.000000	1.000000	0.972261	0.990000	1	9.200000e-01	1
ARHGAP31	57514	broad.mit.edu	37	3	119121031	119121031	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:119121031C>T	ENST00000264245.4	+	10	1964	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31			67					GCCCTCGCCGCGTAACCAGCG	0.587000													Pancreas(7;176 297 5394 51128 51241)											0							SO:0001583	missense			ENST00000264245.4	1	1	hg19	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250570	0.80135	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.12879	2.64	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	T	0.26882	0.0658	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.53185	0.72	T	0.00544	-1.1679	10	0.87932	D	0	.	13.1802	0.59649	0.1592:0.8408:0.0:0.0	.	478	Q2M1Z3	RHG31_HUMAN	C	478	ENSP00000264245:R478C	ENSP00000264245:R478C	R	+	1	0	ARHGAP31	120603721	0.997000	0.39634	0.444000	0.26895	0.924000	0.55760	3.505000	0.53356	2.774000	0.95407	0.655000	0.94253	CGT		TCGA-3A-A9I9-01A-11D-A38G-08	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	1	0	1	65	375	0	198	0	3.974105e-01	1	8	0	198	2		0	0	0	0	0	2	1	1.000000	64	367	0	197	2		0	0	0	0	198	2	-20.000000	1	1	121016	3	41	1	1	2	3	2.050663	0	0.300000	1.870000	0.302094	0.980000	0.770000	1.000000	1.000000	0.951941	0.980000	1	8.700000e-01	1
ZFYVE20	64145	broad.mit.edu	37	3	15116060	15116060	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:15116060C>T	ENST00000253699.3	-	14	2197	c.1584G>A	c.(1582-1584)cgG>cgA	p.R528R	ZFYVE20_ENST00000476527.2_Silent_p.R528R	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20			26					GTTCCAACTCCCGTTCACGCA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000253699.3	1	1	hg19	CCDS2623.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	1	0	1	121	364	0	210	1	8.699429e-01	5	8	0	210	2		0	0	0	0	0	2	1	1.000000	120	353	0	207	2		0	0	0	0	210	2	-20.000000	1	1	0	0		1	1	2	3	2.361890	1	0.300000	1.870000	0.391304	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX36	170506	broad.mit.edu	37	3	154032888	154032888	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:154032888A>C	ENST00000496811.1	-	3	630	c.550T>G	c.(550-552)Tta>Gta	p.L184V	DHX36_ENST00000308361.6_Missense_Mutation_p.L184V|DHX36_ENST00000329463.5_Missense_Mutation_p.L184V|DHX36_ENST00000544526.1_Missense_Mutation_p.L184V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36			35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		TCTTCCAATAATTTTTGGTCT	0.289000																								0							SO:0001583	missense			ENST00000496811.1	1	1	hg19	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854682	0.32791	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9	5.64	2.36	0.29203	.	0.000000	0.64402	D	0.000001	T	0.08537	0.0212	L	0.36672	1.1	0.46774	D	0.999197	P;P;B	0.41313	0.573;0.745;0.251	B;B;B	0.37550	0.18;0.253;0.095	T	0.18116	-1.0347	10	0.51188	T	0.08	.	9.201	0.37258	0.2292:0.0:0.7708:0.0	.	184;184;184	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	V	184;184;184;184;98	ENSP00000417078:L184V;ENSP00000309296:L184V;ENSP00000444247:L184V;ENSP00000330113:L184V;ENSP00000419862:L98V	ENSP00000309296:L184V	L	-	1	2	DHX36	155515582	0.980000	0.34600	0.395000	0.26283	0.968000	0.65278	1.368000	0.34216	0.114000	0.18032	0.472000	0.43445	TTA		TCGA-3A-A9I9-01A-11D-A38G-08	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	1	0	1	57	295	0	76	1	5.032503e-01	2	8	0	76	2		0	0	0	0	0	2	1	1.000000	55	288	0	73	2		0	0	0	0	76	2	-20.000000	1	1	0	0		1	1	2	3	2.050663	0	0.300000	1.870000	0.302094	0.990000	0.840000	1.000000	1.000000	0.981715	0.990000	1	9.500000e-01	1
GHSR	2693	broad.mit.edu	37	3	172165640	172165640	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:172165640G>A	ENST00000241256.2	-	1	606	c.564C>T	c.(562-564)aaC>aaT	p.N188N	GHSR_ENST00000427970.1_Silent_p.N188N	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor			33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		GGTCGGTGCCGTTCTCGTGCT	0.637000													Esophageal Squamous(93;641 1401 20883 29581 34638)											0							SO:0001819	synonymous_variant			ENST00000241256.2	0	1	hg19	CCDS3218.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	0	0	0	4	166	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	0.887104	4	163	0	65	2		0	0	0	0	66	2	-6.312351	1	1	121402	1	32	1	1	2	3	2.050663	0	0.300000	1.870000	0.302094	0.170000	0.050000	0.420000	0.160000	0.199669	0.170000	0	1.000000e-01	2.800000e-01
ETV5	2119	broad.mit.edu	37	3	185783686	185783686	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:185783686G>C	ENST00000306376.5	-	8	1072	c.826C>G	c.(826-828)Ccg>Gcg	p.P276A	ETV5_ENST00000537818.1_Missense_Mutation_p.P318A|ETV5_ENST00000480706.1_5'Flank|ETV5_ENST00000434744.1_Missense_Mutation_p.P276A	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5			28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		GGCATGCCCGGGACCCCATGT	0.552000			T	TMPRSS2, SCL45A3	Prostate										Dom	yes		3	3q28	2119	ets variant gene 5		E	0							SO:0001583	missense			ENST00000306376.5	1	1	hg19	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738599	0.30774	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.24151	1.87;1.87;1.87	6.17	4.36	0.52297	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.053049	0.85682	D	0.000000	T	0.16085	0.0387	N	0.19112	0.55	0.42954	D	0.994381	B;B	0.14438	0.01;0.008	B;B	0.16289	0.015;0.013	T	0.05321	-1.0892	10	0.37606	T	0.19	.	9.3211	0.37964	0.0734:0.0:0.7838:0.1428	.	276;318	P41161;B7Z7D7	ETV5_HUMAN;.	A	276;276;318	ENSP00000306894:P276A;ENSP00000413755:P276A;ENSP00000441737:P318A	ENSP00000306894:P276A	P	-	1	0	ETV5	187266380	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	3.446000	0.52928	0.907000	0.36646	0.655000	0.94253	CCG		TCGA-3A-A9I9-01A-11D-A38G-08	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	1	0	0	24	422	0	141	0	7.084748e-02	0	8	0	141	2		0	0	0	0	0	2	1	1.000000	23	414	0	137	2		0	0	0	0	141	2	-5.194360	1	1	0	0		1	1	2	3	2.050663	0	0.300000	1.870000	0.302094	0.360000	0.230000	0.540000	0.360000	0.377370	0.360000	0	2.900000e-01	4.500000e-01
SCN5A	6331	broad.mit.edu	37	3	38671831	38671831	+	Silent	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:38671831C>G	ENST00000333535.4	-	3	512	c.363G>C	c.(361-363)cgG>cgC	p.R121R	SCN5A_ENST00000413689.1_Silent_p.R121R|SCN5A_ENST00000449557.2_Silent_p.R121R|SCN5A_ENST00000425664.1_Silent_p.R121R|SCN5A_ENST00000451551.2_Silent_p.R121R|SCN5A_ENST00000455624.2_Silent_p.R121R|SCN5A_ENST00000450102.2_Silent_p.R121R|SCN5A_ENST00000414099.2_Silent_p.R121R|SCN5A_ENST00000443581.1_Silent_p.R121R|SCN5A_ENST00000423572.2_Silent_p.R121R			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCCGCTCTCCGGATGGGGT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000333535.4	1	1	hg19	CCDS46796.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1	46	307	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	1.000000	45	300	0	146	2		0	0	0	0	145	2	-2.921011	1	1	0	0		1	1	2	3	2.042112	0	0.300000	1.870000	0.301048	0.860000	0.650000	1.000000	1.000000	0.867573	0.860000	1	7.500000e-01	1
ZNF619	285267	broad.mit.edu	37	3	40529155	40529155	+	Missense_Mutation	SNP	C	C	T	rs139131960	by1000genomes	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:40529155C>T	ENST00000314686.5	+	6	1511	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	ZNF619_ENST00000521353.1_Missense_Mutation_p.S425L|ZNF619_ENST00000447116.2_Missense_Mutation_p.S425L|ZNF619_ENST00000429348.2_Missense_Mutation_p.S385L|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.S376L|ZNF619_ENST00000456778.1_Missense_Mutation_p.S341L|ZNF619_ENST00000432264.2_Missense_Mutation_p.S385L			Q8N2I2	ZN619_HUMAN	zinc finger protein 619			21					CACCGCAGTTCGGTATTTCTT	0.443000																								0							SO:0001583	missense			ENST00000314686.5	1	1	hg19		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	7.811	0.715641	0.15306	4.54E-4	0.0	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	2.44	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26593	0.0650	M	0.81179	2.53	0.09310	N	1	D;P;P;D;P;P	0.67145	0.996;0.839;0.839;0.96;0.839;0.921	P;B;B;B;B;B	0.49683	0.619;0.071;0.071;0.394;0.098;0.118	T	0.14980	-1.0453	9	0.72032	D	0.01	.	4.6774	0.12719	0.2336:0.4962:0.2702:0.0	.	341;385;425;327;376;369	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	L	369;425;385;341;376;425;385	ENSP00000322529:S369L;ENSP00000411132:S425L;ENSP00000398024:S385L;ENSP00000397232:S341L;ENSP00000428004:S376L;ENSP00000430705:S425L;ENSP00000388710:S385L	ENSP00000322529:S369L	S	+	2	0	ZNF619	40504159	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.135000	0.03225	0.342000	0.23796	0.563000	0.77884	TCG		TCGA-3A-A9I9-01A-11D-A38G-08	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	0	0	0	54	265	0	82	1	3.402626e-01	2	5	0	82	2		0	0	0	0	0	2	1	1.000000	54	259	0	82	2		0	0	0	0	82	2	-4.363608	1	0	121412	37	46	1	1	2	3	2.042112	0	0.300000	1.870000	0.301048	0.990000	0.870000	1.000000	1.000000	0.988959	0.990000	1	9.900000e-01	1
TRAIP	10293	broad.mit.edu	37	3	49867474	49867474	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:49867474C>T	ENST00000331456.2	-	12	1178	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	TRAIP_ENST00000469027.1_Silent_p.K200K	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein			24					CTTTGCATATCTTCTTGGGGA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000331456.2	0	1	hg19	CCDS2806.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	0	0	0	8	495	0	174	0	2.044684e-03	0	4	0	174	2		0	0	0	0	0	2	1	0.988389	8	484	0	168	2		0	0	0	0	174	2	-3.333272	1	1	0	0		1	0	1	1	2.033341	0	0.300000	1.870000	0.297894	0.100000	0.040000	0.200000	0.100000	0.117900	0.100000	0	7.000000e-02	1.600000e-01
GPR27	2850	broad.mit.edu	37	3	71804286	71804286	+	Silent	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:71804286C>A	ENST00000304411.2	+	1	1086	c.1086C>A	c.(1084-1086)acC>acA	p.T362T	EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27			5		Prostate(10;0.00899)			CCCGGACCACCCAGGCGACCC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000304411.2	0	1	hg19	CCDS2915.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	0	0	0	4	67	0	30	0	1.542357e-01	0	10	0	30	2		0	0	0	0	0	2	1	0.885530	4	65	0	29	2		0	0	0	0	30	2	-8.481318	1	1	0	0		1	0	1	1	2.033341	0	0.300000	1.870000	0.297894	0.400000	0.140000	0.830000	0.360000	0.439490	0.400000	0	2.500000e-01	6.200000e-01
DAPP1	27071	broad.mit.edu	37	4	100784951	100784951	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:100784951G>C	ENST00000512369.1	+	7	693	c.625G>C	c.(625-627)Gac>Cac	p.D209H	DAPP1_ENST00000296414.7_Missense_Mutation_p.D209H	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides			6					TCGGATCCTAGACCTAACAGA	0.303000																								0							SO:0001583	missense			ENST00000512369.1	1	1	hg19	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032235	0.75504	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	T;T	0.76709	-1.04;-1.04	5.72	4.88	0.63580	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.045133	0.85682	D	0.000000	D	0.87341	0.6153	M	0.78916	2.43	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.985;0.994	D	0.88675	0.3198	10	0.72032	D	0.01	-19.8161	13.5784	0.61888	0.076:0.0:0.9239:0.0	.	209;209	Q9UN19-2;Q9UN19	.;DAPP1_HUMAN	H	209	ENSP00000296414:D209H;ENSP00000423602:D209H	ENSP00000296414:D209H	D	+	1	0	DAPP1	101003974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.093000	0.64517	1.410000	0.46936	0.655000	0.94253	GAC		TCGA-3A-A9I9-01A-11D-A38G-08	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1	1	0	1	15	77	0	21	0	6.159777e-01	0	12	0	21	2		0	0	0	0	0	2	1	0.999896	15	74	0	21	2		0	0	0	0	21	2	-20.000000	1	1	0	0		1	0	1	1	2.035556	0	0.300000	1.870000	0.298948	0.990000	0.650000	1.000000	1.000000	0.946643	0.990000	1	8.500000e-01	1
AIMP1	9255	broad.mit.edu	37	4	107252827	107252827	+	Splice_Site	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:107252827A>G	ENST00000442366.1	+	5	443		c.e5-1		AIMP1_ENST00000358008.3_Splice_Site|AIMP1_ENST00000394701.4_Splice_Site	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1			11					AATACTTTTTAGGAGAGAAGA	0.358000																								0							SO:0001630	splice_region_variant			ENST00000442366.1	0	1	hg19	CCDS3674.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.124201	0.37533	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1091	0.72340	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIMP1	107472276	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	5.339000	0.65953	1.979000	0.57680	0.528000	0.53228	.		TCGA-3A-A9I9-01A-11D-A38G-08	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	0	0	0	5	312	0	82	0	0	0	1	0	82	2		0	0	0	0	0	2	1	0.935921	5	308	0	82	2		0	0	0	0	82	2	-2.543142	1	1	0	0		1	0	1	1	2.035556	0	0.300000	1.870000	0.298948	0.110000	0.030000	0.230000	0.100000	0.124282	0.110000	0	6.000000e-02	1.700000e-01
NCAPG	64151	broad.mit.edu	37	4	17839269	17839269	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:17839269G>C	ENST00000251496.2	+	16	2487	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G			27					GGAATGCTTTGAAGAAGCTTT	0.358000																								0							SO:0001583	missense			ENST00000251496.2	1	1	hg19	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257970	0.80246	.	.	ENSG00000109805	ENST00000251496	T	0.31769	1.48	5.55	4.71	0.59529	Armadillo-type fold (1);	0.044582	0.85682	D	0.000000	T	0.54565	0.1866	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.56517	-0.7966	10	0.45353	T	0.12	-21.4946	14.1271	0.65228	0.0721:0.0:0.9279:0.0	.	771	Q9BPX3	CND3_HUMAN	Q	771	ENSP00000251496:E771Q	ENSP00000251496:E771Q	E	+	1	0	NCAPG	17448367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.813000	0.91963	1.339000	0.45563	0.591000	0.81541	GAA		TCGA-3A-A9I9-01A-11D-A38G-08	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	1	0	1	109	643	0	126	1	5.826654e-01	5	8	0	126	2		0	0	0	0	0	2	1	1.000000	104	633	0	123	2		0	0	0	0	126	2	-20.000000	1	1	0	0		1	0	1	1	2.035556	0	0.300000	1.870000	0.298948	0.960000	0.800000	1.000000	1.000000	0.947308	0.960000	1	8.700000e-01	1
FAT1	2195	broad.mit.edu	37	4	187524664	187524664	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:187524664A>G	ENST00000441802.2	-	19	11225	c.11016T>C	c.(11014-11016)ggT>ggC	p.G3672G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					TCCTCCTCACACCCAGGATGT	0.502000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001819	synonymous_variant			ENST00000441802.2	1	1	hg19	CCDS47177.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1	23	128	0	68	1	9.768967e-01	11	26	0	68	2		0	0	0	0	0	2	1	1.000000	23	125	0	68	2		0	0	0	0	68	2	-13.651160	1	1	0	0		1	0	1	1	1.794579	1	0.300000	1.870000	0.183673	0.830000	0.560000	1.000000	1.000000	0.826438	0.830000	0	6.900000e-01	9.600000e-01
FAM114A1	92689	broad.mit.edu	37	4	38933133	38933133	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:38933133C>T	ENST00000358869.2	+	11	1399	c.1223C>T	c.(1222-1224)gCa>gTa	p.A408V	FAM114A1_ENST00000515037.1_Missense_Mutation_p.A201V	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1			20					GTAGATGTGGCAAAAGTGTCC	0.453000																								0							SO:0001583	missense			ENST00000358869.2	1	1	hg19	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	C	7.958	0.746323	0.15710	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.22743	1.94;2.92	6.07	3.04	0.35103	.	1.106540	0.06528	N	0.740982	T	0.18882	0.0453	L	0.57536	1.79	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.002	T	0.45381	-0.9265	10	0.02654	T	1	-0.0049	7.2024	0.25889	0.1269:0.6457:0.0:0.2274	.	201;408	Q6MZV4;Q8IWE2	.;NXP20_HUMAN	V	201;408;201	ENSP00000424115:A201V;ENSP00000351740:A408V	ENSP00000347569:A201V	A	+	2	0	FAM114A1	38609528	0.600000	0.26899	0.002000	0.10522	0.268000	0.26511	1.217000	0.32455	0.907000	0.36646	0.655000	0.94253	GCA		TCGA-3A-A9I9-01A-11D-A38G-08	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	0	0	0	8	186	0	55	0	4.387243e-01	0	33	0	55	2		0	0	0	0	0	2	1	0.988671	8	181	0	53	2		0	0	0	0	55	2	-4.093351	1	1	0	0		1	0	1	1	2.035556	0	0.300000	1.870000	0.298948	0.280000	0.130000	0.500000	0.270000	0.301988	0.280000	0	1.900000e-01	3.900000e-01
MFSD7	84179	broad.mit.edu	37	4	678335	678335	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			G	C	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:678335G>C	ENST00000404286.2	-	6	795	c.780C>G	c.(778-780)atC>atG	p.I260M	MFSD7_ENST00000515118.1_Missense_Mutation_p.I163M|MFSD7_ENST00000322224.4_Missense_Mutation_p.I259M|MFSD7_ENST00000347950.5_Missense_Mutation_p.I141M|MFSD7_ENST00000503156.1_Missense_Mutation_p.I195M|MFSD7_ENST00000513740.1_5'Flank	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7			11					CAGAGATCCCGATCATTCCCC	0.642000											OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000404286.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.541	1.113390	0.20795	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000507165	T;T;T;T;T;T	0.58358	0.34;0.45;0.45;0.34;0.45;0.45	4.73	-6.09	0.02145	Major facilitator superfamily domain, general substrate transporter (1);	0.365001	0.28011	N	0.016960	T	0.53334	0.1790	L	0.55103	1.725	0.09310	N	1	D;D;D;P;D	0.58970	0.98;0.984;0.968;0.906;0.975	P;P;P;P;P	0.59171	0.853;0.777;0.841;0.77;0.639	T	0.55147	-0.8186	10	0.42905	T	0.14	-14.7166	9.9496	0.41631	0.7043:0.1275:0.1682:0.0	.	195;163;141;260;259	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	M	141;259;260;163;195;196	ENSP00000307545:I141M;ENSP00000320234:I259M;ENSP00000384616:I260M;ENSP00000423204:I163M;ENSP00000425753:I195M;ENSP00000424556:I196M	ENSP00000320234:I259M	I	-	3	3	MFSD7	668335	0.041000	0.20044	0.000000	0.03702	0.002000	0.02628	-0.702000	0.05069	-1.401000	0.02058	0.460000	0.39030	ATC		TCGA-3A-A9I9-01A-11D-A38G-08	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	1	0	1	75	427	0	225	0	9.935028e-01	0	46	0	225	2		0	0	0	0	0	2	1	1.000000	72	420	0	223	2		0	0	0	0	225	2	-20.000000	1	1	0	0		1	0	1	1	2.035556	0	0.300000	1.870000	0.298948	0.980000	0.790000	1.000000	1.000000	0.957387	0.980000	1	8.800000e-01	1
ALB	213	broad.mit.edu	37	4	74283893	74283893	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:74283893T>C	ENST00000503124.1	+	10	1274	c.1067T>C	c.(1066-1068)gTg>gCg	p.V356A	ALB_ENST00000401494.3_Missense_Mutation_p.V391A|ALB_ENST00000509063.1_Missense_Mutation_p.V506A|ALB_ENST00000415165.2_Missense_Mutation_p.V314A|ALB_ENST00000295897.4_Missense_Mutation_p.V506A|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin			48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		GAATCCTTGGTGAACAGGCGA	0.448000																								0							SO:0001583	missense			ENST00000503124.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	0.009	-1.808861	0.00606	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.94	2.26	0.28386	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.507607	0.19058	N	0.123858	T	0.34048	0.0884	N	0.12471	0.22	0.28162	N	0.928932	B;B;B;B;B	0.23128	0.08;0.001;0.006;0.001;0.002	B;B;B;B;B	0.31495	0.131;0.034;0.069;0.017;0.034	T	0.33317	-0.9873	10	0.87932	D	0	-9.8227	7.1945	0.25845	0.0:0.3801:0.0:0.6199	.	391;314;356;506;506	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	A	506;314;293;356;506;391;515	ENSP00000295897:V506A;ENSP00000401820:V314A;ENSP00000421027:V356A;ENSP00000422784:V506A;ENSP00000384695:V391A	ENSP00000295897:V506A	V	+	2	0	ALB	74502757	0.993000	0.37304	0.762000	0.31397	0.006000	0.05464	1.347000	0.33975	0.503000	0.28060	-0.297000	0.09499	GTG		TCGA-3A-A9I9-01A-11D-A38G-08	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	1	0	1	76	471	0	122	0	9.999999e-01	0	139	0	122	2		0	0	0	0	0	2	1	1.000000	75	465	0	121	2		0	0	0	0	122	2	-20.000000	1	1	121412	4	38	1	0	1	1	2.035556	0	0.300000	1.870000	0.298948	0.920000	0.730000	1.000000	1.000000	0.915333	0.920000	1	8.200000e-01	1
IBSP	3381	broad.mit.edu	37	4	88727301	88727301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:88727301G>T	ENST00000226284.5	+	5	278	c.211G>T	c.(211-213)Gga>Tga	p.G71*		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein			21		Hepatocellular(203;0.114)			CGAAGAAAATGGAGATGACAG	0.348000																								0							SO:0001587	stop_gained			ENST00000226284.5	0	1	hg19	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	36	5.856098	0.97030	.	.	ENSG00000029559	ENST00000226284	.	.	.	5.71	5.71	0.89125	.	0.190255	0.36932	N	0.002329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.9553	0.86257	0.0:0.0:1.0:0.0	.	.	.	.	X	71	.	ENSP00000226284:G71X	G	+	1	0	IBSP	88946325	0.998000	0.40836	0.988000	0.46212	0.981000	0.71138	3.591000	0.53986	2.861000	0.98227	0.650000	0.86243	GGA		TCGA-3A-A9I9-01A-11D-A38G-08	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2	1	0	0	31	169	0	47	0	6.867288e-02	0	3	0	47	2		0	0	0	0	0	2	1	1.000000	31	165	0	47	2		0	0	0	0	47	2	-3.248383	1	1	0	0		1	0	1	1	2.035556	0	0.300000	1.870000	0.298948	0.990000	0.720000	1.000000	1.000000	0.952582	0.990000	1	8.600000e-01	1
PCDHB2	56133	broad.mit.edu	37	5	140475321	140475321	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140475321C>T	ENST00000194155.4	+	1	1095	c.947C>T	c.(946-948)aCa>aTa	p.T316I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2			71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TCCATCCAGACATACACAGTA	0.423000																								0							SO:0001583	missense			ENST00000194155.4	1	1	hg19	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	2.170	-0.390128	0.04932	.	.	ENSG00000112852	ENST00000194155	T	0.52057	0.68	5.38	0.0927	0.14474	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.31420	0.0796	L	0.38733	1.17	0.09310	N	1	B	0.22541	0.071	B	0.21546	0.035	T	0.22556	-1.0213	9	0.23302	T	0.38	.	4.5758	0.12232	0.3845:0.2605:0.2888:0.0662	.	316	Q9Y5E7	PCDB2_HUMAN	I	316	ENSP00000194155:T316I	ENSP00000194155:T316I	T	+	2	0	PCDHB2	140455505	0.000000	0.05858	0.135000	0.22099	0.049000	0.14656	-3.545000	0.00435	0.020000	0.15106	0.650000	0.86243	ACA		TCGA-3A-A9I9-01A-11D-A38G-08	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	1	0	1	47	301	0	146	1	4.063775e-01	5	5	0	146	2		0	0	0	0	0	2	1	1.000000	46	296	0	143	2		0	0	0	0	146	2	-19.938540	1	1	0	0		1	1	2	3	2.051815	0	0.300000	1.870000	0.302094	0.900000	0.680000	1.000000	1.000000	0.894446	0.900000	1	7.800000e-01	1
PCDHGC5	56097	broad.mit.edu	37	5	140869580	140869580	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140869580G>A	ENST00000252087.1	+	1	773	c.773G>A	c.(772-774)gGt>gAt	p.G258D	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5			35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCACCCATTGGTACTCTGCTG	0.517000																								0							SO:0001583	missense			ENST00000252087.1	1	1	hg19	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638018	0.29157	.	.	ENSG00000240764	ENST00000252087	T	0.04454	3.62	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000019	T	0.13286	0.0322	M	0.66506	2.035	0.58432	D	0.999995	B;P	0.48294	0.311;0.908	B;P	0.51777	0.334;0.679	T	0.00032	-1.2273	10	0.51188	T	0.08	.	13.4893	0.61386	0.0718:0.0:0.9282:0.0	.	258;258	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	D	258	ENSP00000252087:G258D	ENSP00000252087:G258D	G	+	2	0	PCDHGC5	140849764	1.000000	0.71417	0.569000	0.28460	0.003000	0.03518	5.776000	0.68924	2.890000	0.99128	0.655000	0.94253	GGT		TCGA-3A-A9I9-01A-11D-A38G-08	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	1	0	1	110	572	0	288	0	2.645613e-02	0	2	0	288	2		0	0	0	0	0	2	1	1.000000	107	557	0	282	2		0	0	0	0	288	2	-20.000000	1	1	0	0		1	1	2	3	2.051815	0	0.300000	1.870000	0.302094	0.990000	0.890000	1.000000	1.000000	0.990549	0.990000	1	9.800000e-01	1
PPARGC1B	133522	broad.mit.edu	37	5	149216585	149216585	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:149216585C>G	ENST00000309241.5	+	8	2599	c.2567C>G	c.(2566-2568)tCt>tGt	p.S856C	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S817C|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S856C|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S792C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta			30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		CGCTCAAGCTCTGGCTCTTCA	0.637000																								0							SO:0001583	missense			ENST00000309241.5	1	1	hg19	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013777	0.75161	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.8	5.8	0.92144	.	0.619197	0.15973	N	0.235681	T	0.72277	0.3440	M	0.62723	1.935	0.52501	D	0.999955	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.999;0.998;0.999	T	0.71859	-0.4465	10	0.72032	D	0.01	-20.0049	18.2397	0.89963	0.0:1.0:0.0:0.0	.	835;835;817;856;856	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	C	817;856;856;792	ENSP00000353638:S817C;ENSP00000377855:S856C;ENSP00000312649:S856C;ENSP00000384403:S792C	ENSP00000312649:S856C	S	+	2	0	PPARGC1B	149196778	0.997000	0.39634	0.975000	0.42487	0.977000	0.68977	3.862000	0.56009	2.747000	0.94245	0.462000	0.41574	TCT		TCGA-3A-A9I9-01A-11D-A38G-08	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	1	0	1	62	419	0	224		0	0	0	0	224	2		0	0	0	0	0	2	1	1.000000	58	409	0	220	2		0	0	0	0	224	2	-3.142713	1	1	0	0		1	1	2	3	2.051815	0	0.300000	1.870000	0.302094	0.860000	0.670000	1.000000	1.000000	0.863893	0.860000	1	7.600000e-01	9.700000e-01
DRD1	1812	broad.mit.edu	37	5	174869707	174869707	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:174869707C>G	ENST00000393752.2	-	2	1388	c.396G>C	c.(394-396)gaG>gaC	p.E132D		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1			23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCATCTTTCTCTCATACCGGA	0.542000																								0							SO:0001583	missense			ENST00000393752.2	1	1	hg19	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172325	0.38315	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.72505	-0.66	5.55	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.046619	0.85682	D	0.000000	T	0.81079	0.4748	M	0.82517	2.595	0.51233	D	0.999911	D	0.60575	0.988	P	0.61722	0.893	T	0.81150	-0.1064	10	0.62326	D	0.03	.	8.8539	0.35217	0.0:0.772:0.0:0.228	.	132	P21728	DRD1_HUMAN	D	132	ENSP00000377353:E132D	ENSP00000327652:E132D	E	-	3	2	DRD1	174802313	1.000000	0.71417	0.978000	0.43139	0.401000	0.30781	1.935000	0.40173	0.819000	0.34492	0.655000	0.94253	GAG		TCGA-3A-A9I9-01A-11D-A38G-08	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	0	0	1	57	298	1	132		0	0	0	1	132	2		0	0	0	0	0	2	1	1.000000	56	295	1	129	11		0	0	0	1	132	2	-2.821127	1	1	0	0		1	0	0	0	2.011166	0	0.300000	1.870000	0.289340	0.990000	0.810000	1.000000	1.000000	0.974269	0.990000	1	9.200000e-01	1
PDE8B	8622	broad.mit.edu	37	5	76646926	76646926	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:76646926G>A	ENST00000264917.5	+	9	1099	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	PDE8B_ENST00000333194.4_Missense_Mutation_p.G352R|PDE8B_ENST00000340978.3_Missense_Mutation_p.G305R|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Missense_Mutation_p.G332R	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	p.G352R(1)	GMDS/PDE8B(2)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		Caffeine(DB00201)|Ketotifen(DB00920)	ACGGAAATCCGGGGACAGCAT	0.502000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000264917.5	1	1	hg19	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260123	0.95368	.	.	ENSG00000113231	ENST00000340978;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	D;D;D;D;T	0.87179	-2.22;-2.22;-2.22;-2.22;-0.39	5.39	5.39	0.77823	PAS (1);PAS fold (1);	0.588962	0.18116	N	0.151194	D	0.96021	0.8704	H	0.96889	3.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.984;0.988;0.984;0.993	D	0.96973	0.9710	10	0.62326	D	0.03	.	17.9374	0.89017	0.0:0.0:1.0:0.0	.	305;352;332;352	O95263-6;O95263-3;O95263-4;O95263	.;.;.;PDE8B_HUMAN	R	305;352;332;352;114	ENSP00000345446:G305R;ENSP00000264917:G352R;ENSP00000345646:G332R;ENSP00000331336:G352R;ENSP00000422861:G114R	ENSP00000264917:G352R	G	+	1	0	PDE8B	76682682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.494000	0.97962	2.528000	0.85240	0.563000	0.77884	GGG		TCGA-3A-A9I9-01A-11D-A38G-08	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	1	0	1	13	83	0	31	0	1.555184e-01	0	5	0	31	2		0	0	0	0	0	2	1	0.999610	13	81	0	31	2		0	0	0	0	31	2	-2.802626	1	1	0	0		1	0	1	1	1.745013	1	0.300000	1.870000	0.185099	0.740000	0.430000	1.000000	1.000000	0.747146	0.740000	0	5.700000e-01	9.200000e-01
TNFAIP3	7128	broad.mit.edu	37	6	138202266	138202266	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:138202266G>A	ENST00000237289.4	+	9	2249	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	p.0?(25)		225	Breast(32;0.135)|Colorectal(23;0.24)				CTGGCCTGCCGCAGCGAGGAG	0.657000			D, N, F		marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma								GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	tumor necrosis factor, alpha-induced protein 3		L	25	Whole gene deletion(25)						SO:0001583	missense			ENST00000237289.4	0	1	hg19	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621768	0.96660	.	.	ENSG00000118503	ENST00000237289;ENST00000535574	T	0.46819	0.86	5.67	5.67	0.87782	Zinc finger, A20-type (3);	0.253340	0.44902	D	0.000405	T	0.50786	0.1636	L	0.48642	1.525	0.53005	D	0.999965	D	0.58620	0.983	P	0.57283	0.817	T	0.50056	-0.8872	10	0.56958	D	0.05	-19.7323	17.9431	0.89031	0.0:0.0:1.0:0.0	.	728	P21580	TNAP3_HUMAN	H	728	ENSP00000237289:R728H	ENSP00000237289:R728H	R	+	2	0	TNFAIP3	138243959	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.069000	0.71209	2.673000	0.90976	0.563000	0.77884	CGC		TCGA-3A-A9I9-01A-11D-A38G-08	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1	0	0	0	6	379	0	190	0	1.553160e-01	0	38	0	190	2		0	0	0	0	0	2	1	0.961064	6	365	0	187	2		0	0	0	0	190	2	-2.865474	1	1	121412	4	38	1	0	1	1	1.734104	1	0.300000	1.870000	0.176471	0.090000	0.030000	0.180000	0.090000	0.101251	0.090000	0	5.000000e-02	1.400000e-01
RREB1	6239	broad.mit.edu	37	6	7231195	7231195	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:7231195G>A	ENST00000349384.6	+	10	3177	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	RREB1_ENST00000379938.2_Missense_Mutation_p.E955K|RREB1_ENST00000334984.6_Missense_Mutation_p.E955K|RREB1_ENST00000379933.3_Missense_Mutation_p.E955K	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			CACTCCCAGCGAAGCCAAGAA	0.617000																								0							SO:0001583	missense			ENST00000349384.6	1	1	hg19	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404290	0.25378	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11604	2.88;2.87;2.88;2.76	4.75	3.88	0.44766	.	0.198485	0.34025	N	0.004340	T	0.03959	0.0111	L	0.40543	1.245	0.30128	N	0.805065	P;P;D	0.56035	0.954;0.956;0.974	B;B;P	0.47251	0.374;0.27;0.542	T	0.11792	-1.0573	10	0.07325	T	0.83	-13.4013	12.3157	0.54955	0.0:0.0:0.6923:0.3077	.	955;955;955	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	K	955	ENSP00000369265:E955K;ENSP00000369270:E955K;ENSP00000305560:E955K;ENSP00000335574:E955K	ENSP00000335574:E955K	E	+	1	0	RREB1	7176194	0.988000	0.35896	0.020000	0.16555	0.182000	0.23217	2.986000	0.49370	1.194000	0.43101	0.655000	0.94253	GAA		TCGA-3A-A9I9-01A-11D-A38G-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	0	0	1	17	86	1	66	1	4.675654e-01	3	6	1	66	2		0	0	0	0	0	2	1	0.991139	17	85	1	64	7		0	0	0	1	66	2	-20.000000	1	1	121410	2	26	1	1	2	3	2.043999	0	0.300000	1.870000	0.301048	0.990000	0.680000	1.000000	1.000000	0.955398	0.990000	1	8.700000e-01	1
EPHB4	2050	broad.mit.edu	37	7	100421350	100421350	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:100421350C>T	ENST00000358173.3	-	3	795	c.327G>A	c.(325-327)gaG>gaA	p.E109E	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Silent_p.E109E|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4			47	Lung NSC(181;0.041)|all_lung(186;0.0581)				CGGTGAAGGTCTCCTTGCAGG	0.667000													GBM(200;2113 3072 25865 52728)											0							SO:0001819	synonymous_variant			ENST00000358173.3	1	1	hg19	CCDS5706.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	1	0	1	44	317	0	149	1	9.268978e-01	6	28	0	149	2		0	0	0	0	0	2	1	1.000000	42	307	0	147	2		0	0	0	0	149	2	-3.318817	1	1	0	0		1	1	2	3	2.359084	1	0.300000	1.870000	0.391304	0.930000	0.690000	1.000000	1.000000	0.915356	0.930000	1	8.000000e-01	1
RELN	5649	broad.mit.edu	37	7	103234836	103234836	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:103234836C>T	ENST00000428762.1	-	26	3802	c.3643G>A	c.(3643-3645)Gat>Aat	p.D1215N	RELN_ENST00000343529.5_Missense_Mutation_p.D1215N|RELN_ENST00000424685.2_Missense_Mutation_p.D1215N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					ATGATGTCATCGACTGCCCAC	0.517000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001583	missense			ENST00000428762.1	1	1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144229	0.94603	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.38560	1.13;1.13;1.13	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.952;0.981	T	0.70392	-0.4884	10	0.87932	D	0	.	19.9347	0.97133	0.0:1.0:0.0:0.0	.	1215;1215	P78509-2;P78509	.;RELN_HUMAN	N	1215	ENSP00000392423:D1215N;ENSP00000345694:D1215N;ENSP00000388446:D1215N	ENSP00000345694:D1215N	D	-	1	0	RELN	103022072	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	7.267000	0.78462	2.707000	0.92482	0.591000	0.81541	GAT		TCGA-3A-A9I9-01A-11D-A38G-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1	176	1186	0	284		0	0	0	0	284	2		0	0	0	0	0	2	1	1.000000	173	1165	0	280	2		0	0	0	0	284	2	-20.000000	1	1	0	0		1	1	2	3	2.359084	1	0.300000	1.870000	0.391304	0.980000	0.850000	1.000000	1.000000	0.968529	0.980000	1	9.100000e-01	1
ZNF746	155061	broad.mit.edu	37	7	149171720	149171720	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:149171720G>A	ENST00000340622.3	-	7	1970	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	ZNF746_ENST00000458143.2_Missense_Mutation_p.R565W			Q6NUN9	ZN746_HUMAN	zinc finger protein 746			34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)		GTGAAGGGCCGCACGCCCGTG	0.672000																								0							SO:0001583	missense			ENST00000340622.3	1	1	hg19	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654521	0.67472	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.15139	2.45;2.45	5.58	4.67	0.58626	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000277	T	0.43010	0.1228	M	0.84082	2.675	0.36220	D	0.851953	D;D	0.89917	1.0;1.0	D;D	0.78314	0.917;0.991	T	0.55891	-0.8069	10	0.87932	D	0	-24.6663	11.729	0.51726	0.0:0.0:0.6974:0.3026	.	565;564	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	W	564;565	ENSP00000345140:R564W;ENSP00000395007:R565W	ENSP00000345140:R564W	R	-	1	2	ZNF746	148802653	0.497000	0.26067	1.000000	0.80357	0.991000	0.79684	0.576000	0.23744	2.630000	0.89119	0.462000	0.41574	CGG		TCGA-3A-A9I9-01A-11D-A38G-08	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	1	0	0	9	102	0	46	1	7.360498e-01	5	26	0	46	2		0	0	0	0	0	2	1	0.993899	9	98	0	46	2		0	0	0	0	46	2	-13.836400	1	1	0	0		1	1	2	3	2.376325	1	0.300000	1.870000	0.391304	0.640000	0.320000	1.000000	1.000000	0.661786	0.640000	0	4.600000e-01	8.600000e-01
AMPH	273	broad.mit.edu	37	7	38502605	38502605	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:38502605G>A	ENST00000356264.2	-	10	1073	c.858C>T	c.(856-858)ccC>ccT	p.P286P	AMPH_ENST00000428293.2_Silent_p.P286P|AMPH_ENST00000325590.5_Silent_p.P286P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin			62					GTGCTGGTGCGGGAGACGCAG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000356264.2	1	1	hg19	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	7.801	0.713694	0.15306	0.0	1.16E-4	ENSG00000078053	ENST00000441628	.	.	.	6.17	-4.56	0.03431	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37502	-0.9703	4	.	.	.	-16.034	1.5039	0.02482	0.2196:0.2615:0.324:0.1949	.	.	.	.	C	37	.	.	R	-	1	0	AMPH	38469130	0.005000	0.15991	0.968000	0.41197	0.560000	0.35617	-1.526000	0.02229	-0.560000	0.06102	-1.202000	0.01658	CGC		TCGA-3A-A9I9-01A-11D-A38G-08	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	0	0	1	66	378	1	139	0	0	0	1	1	139	2		0	0	0	0	0	2	1	1.000000	67	367	1	137	12		0	0	0	1	139	2	-2.151298	0	1	121386	3	40	1	0	0	0	2.030441	0	0.300000	1.870000	0.295775	0.980000	0.770000	1.000000	1.000000	0.950309	0.980000	1	8.700000e-01	1
PKD1L1	168507	broad.mit.edu	37	7	47842826	47842826	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:47842826G>T	ENST00000289672.2	-	53	7994	c.7944C>A	c.(7942-7944)ccC>ccA	p.P2648P	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1		BBS9/PKD1L1(2)	142					CAAAGATGCTGGGGAGTGAGT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000289672.2	1	1	hg19	CCDS34633.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	1	32	251	0	97	0	0	0	1	0	97	2		0	0	0	0	0	2	1	1.000000	31	248	0	93	2		0	0	0	0	97	2	-2.744790	1	1	0	0		1	0	0	0	2.030441	0	0.300000	1.870000	0.295775	0.740000	0.520000	1.000000	1.000000	0.758838	0.740000	0	6.300000e-01	8.800000e-01
ATAD2	29028	broad.mit.edu	37	8	124348628	124348628	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:124348628C>G	ENST00000287394.5	-	22	3303	c.3196G>C	c.(3196-3198)Gat>Cat	p.D1066H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D384H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	p.D1066Y(1)		48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)		GGATCTCTATCTGGATTGTAT	0.373000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000287394.5	1	1	hg19	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066390	0.76187	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.29917	1.55;1.55	5.89	5.89	0.94794	Bromodomain (5);	0.507344	0.17654	U	0.166599	T	0.55641	0.1933	M	0.78223	2.4	0.58432	D	0.999999	D	0.55385	0.971	P	0.56398	0.797	T	0.56992	-0.7887	10	0.72032	D	0.01	-27.5249	20.2576	0.98430	0.0:1.0:0.0:0.0	.	1066	Q6PL18	ATAD2_HUMAN	H	1066;384	ENSP00000287394:D1066H;ENSP00000429213:D384H	ENSP00000287394:D1066H	D	-	1	0	ATAD2	124417809	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	7.541000	0.82084	2.783000	0.95769	0.655000	0.94253	GAT		TCGA-3A-A9I9-01A-11D-A38G-08	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	1	0	1	57	337	0	103	1	4.919688e-01	5	6	0	103	2		0	0	0	0	0	2	1	1.000000	56	327	0	101	2		0	0	0	0	103	2	-3.319915	1	1	0	0		1	1	2	3	2.042262	0	0.300000	1.870000	0.301048	0.960000	0.740000	1.000000	1.000000	0.937391	0.960000	1	8.400000e-01	1
NCOA2	10499	broad.mit.edu	37	8	71082538	71082538	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:71082538A>G	ENST00000452400.2	-	6	621	c.440T>C	c.(439-441)cTa>cCa	p.L147P		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2		PAX3/NCOA2(4)|HEY1/NCOA2(10)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		GTTATACCTTAGATACTGTGT	0.418000			T	RUNXBP2, HEY1	AML, Chondrosarcoma										Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0							SO:0001583	missense			ENST00000452400.2	0	1	hg19	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567322	0.86439	.	.	ENSG00000140396	ENST00000452400	T	0.24908	1.83	5.49	5.49	0.81192	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80125	-0.1513	10	0.87932	D	0	.	15.5729	0.76354	1.0:0.0:0.0:0.0	.	147	Q15596	NCOA2_HUMAN	P	147	ENSP00000399968:L147P	ENSP00000399968:L147P	L	-	2	0	NCOA2	71245092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.074000	0.62210	0.528000	0.53228	CTA		TCGA-3A-A9I9-01A-11D-A38G-08	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	1	0	1	12	78	0	15	1	2.066883e-01	2	4	0	15	2		0	0	0	0	0	2	1	0.999292	11	78	0	15	2		0	0	0	0	15	2	-8.687685	1	1	0	0		1	0	1	1	2.033253	0	0.300000	1.870000	0.297894	0.890000	0.500000	1.000000	1.000000	0.856378	0.890000	1	6.700000e-01	1
MATN2	4147	broad.mit.edu	37	8	99019798	99019798	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:99019798C>T	ENST00000520016.1	+	9	1666	c.1542C>T	c.(1540-1542)caC>caT	p.H514H	MATN2_ENST00000522025.2_Silent_p.H230H|MATN2_ENST00000521689.1_Silent_p.H514H|MATN2_ENST00000524308.1_Silent_p.H473H|MATN2_ENST00000254898.5_Silent_p.H514H			O00339	MATN2_HUMAN	matrilin 2			31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)		CTGAGGGACACGTGCTCCGCA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000520016.1	1	1	hg19	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	0.079	-1.186741	0.01620	.	.	ENSG00000132561	ENST00000518154	.	.	.	5.65	-7.32	0.01436	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	-16.2738	16.4012	0.83641	0.0:0.2847:0.0:0.7153	.	.	.	.	C	297	.	.	R	+	1	0	MATN2	99088974	0.000000	0.05858	0.037000	0.18230	0.086000	0.17979	-1.867000	0.01646	-1.505000	0.01807	-1.553000	0.00894	CGT		TCGA-3A-A9I9-01A-11D-A38G-08	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1	1	0	0	64	296	0	137	1	9.996553e-01	12	45	0	137	2		0	0	0	0	0	2	1	1.000000	62	283	0	135	2		0	0	0	0	137	2	-20.000000	1	1	0	0		1	1	2	3	2.042262	0	0.300000	1.870000	0.301048	0.990000	0.930000	1.000000	1.000000	0.996225	0.990000	1	9.900000e-01	1
ENTPD8	377841	broad.mit.edu	37	9	140330612	140330612	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:140330612G>T	ENST00000472938.1	-	6	919	c.903C>A	c.(901-903)ctC>ctA	p.L301L	ENTPD8_ENST00000371506.2_Silent_p.L301L|ENTPD8_ENST00000344119.2_Silent_p.L301L			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8			7	all_cancers(76;0.0926)				GGTTCTGGGGGAGGCTCAGCG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000472938.1	1	1	hg19	CCDS43913.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	1	0	1	38	225	0	118	1	5.409179e-01	5	7	0	118	2		0	0	0	0	0	2	1	1.000000	38	219	0	117	2		0	0	0	0	118	2	-18.638740	1	1	0	0		1	0	0	0	2.015732	0	0.300000	1.870000	0.289340	0.940000	0.690000	1.000000	1.000000	0.919208	0.940000	1	8.100000e-01	1
TLN1	7094	broad.mit.edu	37	9	35700280	35700280	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:35700280C>T	ENST00000314888.9	-	49	6921	c.6568G>A	c.(6568-6570)Gtt>Att	p.V2190I	TLN1_ENST00000540444.1_Missense_Mutation_p.V2078I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1			85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		CCAGCAGCAACGGCCTTGGCG	0.547000																								0							SO:0001583	missense			ENST00000314888.9	1	1	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358745	0.95854	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.74421	-0.84;-0.83	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.85859	2.78	0.80722	D	1	D	0.54207	0.965	B	0.39771	0.309	D	0.84352	0.0533	10	0.87932	D	0	-20.4308	18.3575	0.90362	0.0:1.0:0.0:0.0	.	2190	Q9Y490	TLN1_HUMAN	I	2190;2078	ENSP00000316029:V2190I;ENSP00000442981:V2078I	ENSP00000316029:V2190I	V	-	1	0	TLN1	35690280	1.000000	0.71417	0.788000	0.31933	0.938000	0.57974	7.747000	0.85070	2.436000	0.82500	0.655000	0.94253	GTT		TCGA-3A-A9I9-01A-11D-A38G-08	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	0	0	0	16	357	0	132	0	9.916581e-01	1	175	0	132	2		0	0	0	0	0	2	1	0.999927	16	350	0	132	2		0	0	0	0	132	2	-4.433175	1	1	121412	4	36	1	0	1	1	2.032459	0	0.300000	1.870000	0.297894	0.280000	0.160000	0.440000	0.280000	0.299417	0.280000	0	2.200000e-01	3.700000e-01
FAM189A2	9413	broad.mit.edu	37	9	71951186	71951186	+	Splice_Site	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:71951186G>T	ENST00000257515.8	+	2	432		c.e2+1		FAM189A2_ENST00000455972.1_Splice_Site	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2			12					GATACTCCTGGTATGTACTGA	0.333000																								0							SO:0001630	splice_region_variant			ENST00000257515.8	1	1	hg19	CCDS6629.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323082	0.60634	.	.	ENSG00000135063	ENST00000455972;ENST00000257515	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2361	0.65927	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM189A2	71141006	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.913000	0.63341	2.526000	0.85167	0.655000	0.94253	.		TCGA-3A-A9I9-01A-11D-A38G-08	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	1	0	1	86	575	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	1.000000	85	563	0	156	2		0	0	0	0	158	2	-20.000000	1	1	0	0		1	1	2	3	2.051050	0	0.300000	1.870000	0.302094	0.860000	0.700000	1.000000	1.000000	0.872168	0.860000	1	7.800000e-01	9.600000e-01
GPR50	9248	broad.mit.edu	37	X	150345311	150345311	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:150345311G>A	ENST00000218316.3	+	1	187	c.118G>A	c.(118-120)Gtt>Att	p.V40I	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50			38	Acute lymphoblastic leukemia(192;6.56e-05)				TATCACCATCGTTGTAGACCT	0.512000																								0							SO:0001583	missense			ENST00000218316.3	1	1	hg19	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	6.356	0.433766	0.12045	.	.	ENSG00000102195	ENST00000218316	T	0.37411	1.2	4.2	3.34	0.38264	.	0.154979	0.42821	N	0.000654	T	0.16257	0.0391	N	0.08118	0	0.30817	N	0.738223	B	0.24092	0.097	B	0.15870	0.014	T	0.09840	-1.0656	10	0.31617	T	0.26	-12.3268	7.0452	0.25042	0.1279:0.0:0.8721:0.0	.	40	Q13585	MTR1L_HUMAN	I	40	ENSP00000218316:V40I	ENSP00000218316:V40I	V	+	1	0	GPR50	150095969	0.914000	0.31030	0.782000	0.31804	0.022000	0.10575	1.373000	0.34272	0.789000	0.33779	0.292000	0.19580	GTT		TCGA-3A-A9I9-01A-11D-A38G-08	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	1	0	1	104	370	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	1.000000	102	361	0	134	2		0	0	0	0	135	2	-20.000000	1	1	0	0		1	0	1	1			0.300000	1.870000	0.300000	0.720000	0.600000	0.850000	0.730000	0.731677	0.720000	0	6.600000e-01	7.900000e-01
ZNF157	7712	broad.mit.edu	37	X	47272834	47272834	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47272834A>T	ENST00000377073.3	+	4	1448	c.1362A>T	c.(1360-1362)aaA>aaT	p.K454N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157			11					TCTATGTGAAAGTACGCCTCA	0.438000																								0							SO:0001583	missense			ENST00000377073.3	1	1	hg19	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	A	7.389	0.630476	0.14322	.	.	ENSG00000147117	ENST00000377073	T	0.13778	2.56	3.37	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07818	0.0196	L	0.28054	0.825	0.09310	N	1	B	0.30482	0.281	B	0.24848	0.056	T	0.35895	-0.9770	9	0.26408	T	0.33	.	4.5131	0.11921	0.7149:0.0:0.2851:0.0	.	454	P51786	ZN157_HUMAN	N	454	ENSP00000366273:K454N	ENSP00000366273:K454N	K	+	3	2	ZNF157	47157778	0.000000	0.05858	0.678000	0.29963	0.998000	0.95712	-0.418000	0.07080	0.514000	0.28300	0.486000	0.48141	AAA		TCGA-3A-A9I9-01A-11D-A38G-08	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	1	0	1	28	86	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1.000000	27	84	0	41	2		0	0	0	0	41	2	-20.000000	1	0	0	0		1	0	1	1			0.300000	1.870000	0.300000	0.790000	0.560000	0.980000	0.800000	0.793811	0.790000	0	6.700000e-01	9.100000e-01
ELK1	2002	broad.mit.edu	37	X	47498346	47498346	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47498346G>A	ENST00000247161.3	-	3	701	c.602C>T	c.(601-603)cCa>cTa	p.P201L	ELK1_ENST00000376983.3_Missense_Mutation_p.P201L|ELK1_ENST00000592066.1_Missense_Mutation_p.P147L|ELK1_ENST00000343894.4_Intron	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family			10					CAAGGGGCTTGGACTGGTGCT	0.632000																								0							SO:0001583	missense			ENST00000247161.3	0	1	hg19	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734656	0.69189	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.44482	0.92;0.92	3.73	3.73	0.42828	.	0.322177	0.29355	N	0.012395	T	0.47395	0.1443	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.44651	-0.9314	10	0.52906	T	0.07	.	10.0463	0.42188	0.0:0.0:1.0:0.0	.	201	P19419	ELK1_HUMAN	L	201	ENSP00000247161:P201L;ENSP00000366182:P201L	ENSP00000247161:P201L	P	-	2	0	ELK1	47383290	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.925000	0.56484	2.122000	0.65172	0.529000	0.55759	CCA		TCGA-3A-A9I9-01A-11D-A38G-08	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	1	0	1	11	14	0	9	1	9.994712e-01	9	16	0	9	2		0	0	0	0	0	2	1	0.999115	11	12	0	9	2		0	0	0	0	9	2	-20.000000	1	1	0	0		1	0	1	1			0.300000	1.870000	0.300000	0.900000	0.620000	1.000000	0.990000	0.881637	0.900000	1	7.700000e-01	9.800000e-01
SHROOM4	57477	broad.mit.edu	37	X	50350791	50350791	+	Silent	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:50350791T>C	ENST00000289292.7	-	6	3634	c.3351A>G	c.(3349-3351)gcA>gcG	p.A1117A	SHROOM4_ENST00000460112.3_Silent_p.A1001A|SHROOM4_ENST00000376020.2_Silent_p.A1117A			Q9ULL8	SHRM4_HUMAN	shroom family member 4			52	Ovarian(276;0.236)				gctgctgGGCTGCACGAAAGA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000289292.7	1	1	hg19	CCDS35277.1																																																																																				TCGA-3A-A9I9-01A-11D-A38G-08	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	1	0	1	13	91	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	0.999628	13	90	0	34	2		0	0	0	0	34	2	-20.000000	1	1	0	0		1	0	1	1			0.300000	1.870000	0.300000	0.410000	0.230000	0.640000	0.410000	0.430462	0.410000	0	3.100000e-01	5.300000e-01
MAGED2	10916	broad.mit.edu	37	X	54841940	54841940	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:54841940C>A	ENST00000375068.1	+	12	1879	c.1646C>A	c.(1645-1647)aCt>aAt	p.T549N	MAGED2_ENST00000375060.1_Missense_Mutation_p.T464N|MAGED2_ENST00000396224.1_Missense_Mutation_p.T549N|MAGED2_ENST00000375062.4_Missense_Mutation_p.T464N|MAGED2_ENST00000375058.1_Missense_Mutation_p.T549N|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000218439.4_Missense_Mutation_p.T549N|MAGED2_ENST00000347546.4_Missense_Mutation_p.T531N|MAGED2_ENST00000375053.2_Missense_Mutation_p.T549N			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2			26					agtgccagcactggtgccagt	0.597000																								0							SO:0001583	missense			ENST00000375068.1	1	1	hg19	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	C	3.309	-0.141160	0.06669	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.42513	4.04;4.04;4.1;4.01;0.97;4.04;4.04;0.97;4.04	4.21	2.36	0.29203	.	0.474225	0.17920	N	0.157539	T	0.27629	0.0679	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20472	-1.0274	10	0.59425	D	0.04	.	8.9422	0.35736	0.4:0.6:0.0:0.0	.	464;549	Q5H907;Q9UNF1	.;MAGD2_HUMAN	N	549;549;493;531;464;549;549;464;549	ENSP00000364209:T549N;ENSP00000364193:T549N;ENSP00000336962:T493N;ENSP00000340290:T531N;ENSP00000364202:T464N;ENSP00000218439:T549N;ENSP00000364198:T549N;ENSP00000364200:T464N;ENSP00000379526:T549N	ENSP00000218439:T549N	T	+	2	0	MAGED2	54858665	0.007000	0.16637	0.001000	0.08648	0.045000	0.14185	0.681000	0.25320	0.314000	0.23086	0.513000	0.50165	ACT		TCGA-3A-A9I9-01A-11D-A38G-08	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	1	0	1	9	22	0	13	1	1	96	400	0	13	2		0	0	0	0	0	2	1	0.995938	9	21	0	13	2		0	0	0	0	13	2	-19.885600	1	1	0	0		1	0	1	1			0.300000	1.870000	0.300000	0.800000	0.460000	0.990000	0.910000	0.789105	0.800000	0	6.300000e-01	9.400000e-01
