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
BSN	8927	broad.mit.edu	37	3	49662573	49662574	+	In_Frame_Ins	INS	-	-	GTA			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:49662573_49662574insGTA	ENST00000296452.4	+	2	504_505	c.390_391insGTA	c.(391-393)gta>GTAgta	p.131_131V>VV		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein			106					GGACGCTGCAGGTAGACAGCAG	0.653000																								0							SO:0001652	inframe_insertion			ENST00000296452.4	0	1	hg19	CCDS2800.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	1	0	0	29	167	0	46	0	0	0	0	0	0		0	0	0	0	0	0		1	1.000000	34	162	0	44	2								-20.000000	1	1	0	0		1	0	1	1	1.767646	1	0.390000	1.750000	0.256641	0.610000	4.300000e-01	0.830000	0.610000	0.628175	0.610000	0	0.510000	0.730000
MMP13	4322	broad.mit.edu	37	11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)			27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		Marimastat(DB00786)	GTCAAGTTTGCCAGTCACCTC	0.473000																								0							SO:0001583	missense			ENST00000260302.3	0	1	hg19	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846161	0.91277	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.90197	-2.63;-2.63	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97478	1.0045	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	81	P45452	MMP13_HUMAN	D	81	ENSP00000260302:G81D;ENSP00000339672:G81D	ENSP00000260302:G81D	G	-	2	0	MMP13	102331311	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GGC		TCGA-FB-AAQ1-01A-12D-A40W-08	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	0	0	0	6	763	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	0.964051	6	756	0	135	2								-1.926053	0	1	0	0		1	1	2	3	2.160636	0	0.390000	1.750000	0.399370	0.040000	0	1.000000	0.040000	0.108378	0.040000	0	0.020000	0.070000
PRDM10	56980	broad.mit.edu	37	11	129800938	129800938	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:129800938G>A	ENST00000360871.3	-	11	1734	c.1503C>T	c.(1501-1503)gaC>gaT	p.D501D	PRDM10_ENST00000304538.6_Silent_p.D415D|PRDM10_ENST00000358825.5_Silent_p.D501D|PRDM10_ENST00000526082.1_Silent_p.D415D|PRDM10_ENST00000528746.1_Silent_p.D475D|PRDM10_ENST00000423662.2_Silent_p.D415D	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10			48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			TGCGCATGTCGTCGGCTGTCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000360871.3	1	1	hg19	CCDS8484.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	1	0	1	59	263	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1.000000	57	255	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.160636	0	0.390000	1.750000	0.399370	0.960000	7.400000e-01	1.000000	1.000000	0.936461	0.960000	1	0.840000	1.000000
CD81	975	broad.mit.edu	37	11	2411735	2411735	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:2411735G>A	ENST00000263645.5	+	2	416	c.160G>A	c.(160-162)Gcg>Acg	p.A54T	CD81_ENST00000526072.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A92T|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000524805.1_3'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule			5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)			AGACAAGCCCGCGCCCAACAC	0.617000																								0							SO:0001583	missense			ENST00000263645.5	1	1	hg19	CCDS7734.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341437	0.60963	.	.	ENSG00000110651	ENST00000263645;ENST00000533417;ENST00000527343;ENST00000493525;ENST00000381036;ENST00000492252	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	4.54	2.4	0.29515	.	0.596358	0.15996	N	0.234543	D	0.83248	0.5213	M	0.64997	1.995	0.39692	D	0.97106	D;D	0.71674	0.996;0.998	P;P	0.61275	0.774;0.886	D	0.84064	0.0376	10	0.62326	D	0.03	.	11.7463	0.51821	0.0:0.0:0.6812:0.3188	.	92;54	A6NMH8;P60033	.;CD81_HUMAN	T	54;49;43;46;92;47	ENSP00000263645:A54T;ENSP00000435633:A49T;ENSP00000433767:A43T;ENSP00000432497:A46T;ENSP00000370424:A92T;ENSP00000432249:A47T	ENSP00000263645:A54T	A	+	1	0	CD81	2368311	1.000000	0.71417	0.020000	0.16555	0.589000	0.36550	4.156000	0.58138	0.988000	0.38734	0.462000	0.41574	GCG		TCGA-FB-AAQ1-01A-12D-A40W-08	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	1	0	1	73	295	0	51	1	1	17	1284	0	51	2		0	0	0	0	0	2	1	1.000000	71	285	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.160636	0	0.390000	1.750000	0.399370	0.990000	8.300000e-01	1.000000	1.000000	0.975150	0.990000	1	0.920000	1.000000
TPCN2	219931	broad.mit.edu	37	11	68853221	68853221	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:68853221G>A	ENST00000294309.3	+	21	2021		c.e21+1		TPCN2_ENST00000442692.2_Splice_Site|MIR3164_ENST00000581178.1_RNA|TPCN2_ENST00000542467.1_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2			32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		TGACTTTGCGGTGAGCCCTGC	0.687000																								0							SO:0001630	splice_region_variant			ENST00000294309.3	0	1	hg19	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563865	0.45694	.	.	ENSG00000162341	ENST00000294309	.	.	.	3.54	3.54	0.40534	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4082	0.60926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68609797	1.000000	0.71417	0.830000	0.32933	0.498000	0.33706	6.125000	0.71627	1.998000	0.58463	0.561000	0.74099	.		TCGA-FB-AAQ1-01A-12D-A40W-08	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	0	0	0	6	357	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	0.962813	6	349	0	58	2								-6.059544	1	1	0	0		1	1	2	3	2.160636	0	0.390000	1.750000	0.399370	0.090000	3.000000e-02	1.000000	0.080000	0.157410	0.090000	0	0.050000	0.150000
DNAH10	196385	broad.mit.edu	37	12	124397822	124397822	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:124397822G>A	ENST00000409039.3	+	59	9983	c.9958G>A	c.(9958-9960)Gca>Aca	p.A3320T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GCTGATTGCCGCAGACAAACT	0.537000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119935	0.77323	0.0	1.21E-4	ENSG00000197653	ENST00000409039	T	0.80214	-1.35	5.43	5.43	0.79202	Dynein heavy chain, coiled coil stalk (1);	0.116409	0.64402	D	0.000019	D	0.94026	0.8086	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96078	0.9051	10	0.87932	D	0	.	19.2307	0.93839	0.0:0.0:1.0:0.0	.	3320	Q8IVF4	DYH10_HUMAN	T	3320	ENSP00000386770:A3320T	ENSP00000386770:A3320T	A	+	1	0	DNAH10	122963775	1.000000	0.71417	0.096000	0.21009	0.031000	0.12232	9.869000	0.99810	2.534000	0.85438	0.655000	0.94253	GCA		TCGA-FB-AAQ1-01A-12D-A40W-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	18	46	0	13	0	0	0	1	0	13	2		0	0	0	0	0	2	1	0.999993	18	45	0	13	2								-20.000000	1	1	120604	3	32	1	0	1	1	1.697700	1	0.390000	1.750000	0.242236	0.890000	6.400000e-01	1.000000	0.990000	0.881761	0.890000	1	0.780000	0.970000
GRIN2B	2904	broad.mit.edu	37	12	13717533	13717533	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:13717533C>T	ENST00000609686.1	-	13	2848	c.2639G>A	c.(2638-2640)cGc>cAc	p.R880H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	p.R880P(1)|p.R880H(1)		143				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TACAGACTGGCGCTCCTCGAT	0.537000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000609686.1	1	1	hg19	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672612	0.47781	.	.	ENSG00000150086	ENST00000279593	T	0.12465	2.68	5.3	4.41	0.53225	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.277359	0.39687	N	0.001290	T	0.22244	0.0536	L	0.29908	0.895	0.52501	D	0.999953	D	0.58970	0.984	P	0.60236	0.871	T	0.01259	-1.1403	10	0.59425	D	0.04	.	13.8298	0.63373	0.0:0.9257:0.0:0.0743	.	880	Q13224	NMDE2_HUMAN	H	880	ENSP00000279593:R880H	ENSP00000279593:R880H	R	-	2	0	GRIN2B	13608800	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	3.986000	0.56937	1.238000	0.43771	0.563000	0.77884	CGC		TCGA-FB-AAQ1-01A-12D-A40W-08	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	1	0	1	104	523	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1.000000	103	517	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.103429	0	0.390000	1.750000	0.391187	0.840000	7.000000e-01	1.000000	0.850000	0.854501	0.840000	0	0.770000	0.930000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	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-FB-AAQ1-01A-12D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	40	157	0	57	0	4.382169e-01	1	6	0	57	2	1	1	50	304	0	235	2	1	1.000000	39	156	0	57	2								-20.000000	1	1	121404	2	44	1	1	2	3	2.103429	0	0.390000	1.750000	0.391187	0.990000	7.700000e-01	1.000000	1.000000	0.964208	0.990000	1	0.900000	1.000000
TMTC1	83857	broad.mit.edu	37	12	29659861	29659861	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:29659861C>T	ENST00000539277.1	-	18	2625	c.2567G>A	c.(2566-2568)aGc>aAc	p.S856N	TMTC1_ENST00000256062.5_Missense_Mutation_p.S748N|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.S880N|TMTC1_ENST00000551659.1_Missense_Mutation_p.S918N	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1			75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)				CAGCAGTTTGCTGTCTGGAAC	0.443000																								0							SO:0001583	missense			ENST00000539277.1	0	1	hg19	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334993	0.81801	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.64618	0.83;0.83;0.83;-0.11	5.28	4.38	0.52667	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.093694	0.85682	D	0.000000	T	0.63861	0.2547	L	0.35288	1.05	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.91;0.997;0.998	T	0.58457	-0.7633	10	0.02654	T	1	-24.6549	13.0775	0.59095	0.0:0.9199:0.0:0.0801	.	856;918;201	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	N	619;748;918;880;856	ENSP00000256062:S748N;ENSP00000448112:S918N;ENSP00000449043:S880N;ENSP00000442046:S856N	ENSP00000256062:S748N	S	-	2	0	TMTC1	29551128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.779000	0.55379	2.463000	0.83235	0.650000	0.86243	AGC		TCGA-FB-AAQ1-01A-12D-A40W-08	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	0	0	0	6	613	0	101	0	1.445139e-04	0	2	0	101	2		0	0	0	0	0	2	1	0.963673	6	605	0	101	2								-2.141482	0	1	0	0		1	1	2	3	2.103429	0	0.390000	1.750000	0.391187	0.050000	1.000000e-02	0.110000	0.050000	0.057794	0.050000	0	0.030000	0.080000
FGF6	2251	broad.mit.edu	37	12	4554550	4554550	+	Missense_Mutation	SNP	C	C	T	rs148657794		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:4554550C>T	ENST00000228837.2	-	1	230	c.187G>A	c.(187-189)Gcc>Acc	p.A63T		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6			20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		GCTAGCCCGGCGCGAGACCTG	0.647000																								0							SO:0001583	missense			ENST00000228837.2	1	0	hg19	CCDS8527.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	6.607	0.480375	0.12581	2.27E-4	3.49E-4	ENSG00000111241	ENST00000228837	T	0.25749	1.78	5.0	1.03	0.20045	.	0.553031	0.20578	N	0.089588	T	0.09598	0.0236	L	0.28400	0.85	0.09310	N	1	B	0.22146	0.065	B	0.18561	0.022	T	0.24225	-1.0166	10	0.20046	T	0.44	.	4.459	0.11657	0.2636:0.5167:0.0:0.2197	.	63	P10767	FGF6_HUMAN	T	63	ENSP00000228837:A63T	ENSP00000228837:A63T	A	-	1	0	FGF6	4424811	0.488000	0.25996	0.000000	0.03702	0.202000	0.24057	1.105000	0.31086	-0.013000	0.14199	-0.254000	0.11334	GCC		TCGA-FB-AAQ1-01A-12D-A40W-08	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	1	0	1	188	466	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1.000000	183	458	0	92	2								-2.716734	1	1	121412	319	57	1	1	2	3	2.506778	1	0.390000	1.750000	0.489540	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
FAM19A2	338811	broad.mit.edu	37	12	62148670	62148670	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:62148670G>T	ENST00000416284.3	-	3	1826	c.242C>A	c.(241-243)gCt>gAt	p.A81D	FAM19A2_ENST00000551619.1_Missense_Mutation_p.A81D|FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2			15			GBM - Glioblastoma multiforme(1;0.00484)		ACATGATGGAGCAGCTCGCGT	0.498000																								0							SO:0001583	missense			ENST00000416284.3	1	1	hg19	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519733	0.44866	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	L	0.36672	1.1	0.80722	D	1	B	0.32010	0.351	B	0.36534	0.227	T	0.53099	-0.8486	8	.	.	.	.	18.8508	0.92227	0.0:0.0:1.0:0.0	.	81	Q8N3H0	F19A2_HUMAN	D	81;81;82;88;82	.	.	A	-	2	0	FAM19A2	60434937	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	5.381000	0.66208	2.455000	0.83008	0.558000	0.71614	GCT		TCGA-FB-AAQ1-01A-12D-A40W-08	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	1	0	1	47	164	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1.000000	46	159	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.103429	0	0.390000	1.750000	0.391187	0.990000	8.700000e-01	1.000000	1.000000	0.989530	0.990000	1	0.990000	1.000000
SLC7A7	9056	broad.mit.edu	37	14	23244654	23244654	+	Splice_Site	SNP	T	T	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:23244654T>A	ENST00000397532.3	-	7	1619	c.1094A>T	c.(1093-1095)aAt>aTt	p.N365I	SLC7A7_ENST00000555702.1_Splice_Site_p.N365I|SLC7A7_ENST00000397529.2_Splice_Site_p.N365I|SLC7A7_ENST00000285850.7_Splice_Site_p.N365I|SLC7A7_ENST00000397528.4_Splice_Site_p.N365I|SLC7A7_ENST00000554517.1_Splice_Site_p.N99I|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7			20	all_cancers(95;8.44e-05)				TTCACTTACATTGAAGAGCAG	0.473000																								0							SO:0001630	splice_region_variant			ENST00000397532.3	1	0	hg19	CCDS9574.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.059783|4.059783	0.76074|0.76074	.|.	.|.	ENSG00000155465|ENSG00000155465	ENST00000556350|ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	.|D;D;D;D;D;D	.|0.89050	.|-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Amino acid permease domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93861|0.93861	0.8036|0.8036	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.77004	.|0.989	D|D	0.92497|0.92497	0.6005|0.6005	5|10	.|0.22706	.|T	.|0.39	.|.	14.9941|14.9941	0.71415|0.71415	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|365	.|Q9UM01	.|YLAT1_HUMAN	F|I	80|365;365;365;338;365;365;99	.|ENSP00000285850:N365I;ENSP00000451881:N365I;ENSP00000380666:N365I;ENSP00000380663:N365I;ENSP00000380662:N365I;ENSP00000452083:N99I	.|ENSP00000285850:N365I	I|N	-|-	1|2	0|0	SLC7A7|SLC7A7	22314494|22314494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.474000|0.474000	0.32979|0.32979	7.658000|7.658000	0.83755|0.83755	2.187000|2.187000	0.69744|0.69744	0.460000|0.460000	0.39030|0.39030	ATC|AAT		TCGA-FB-AAQ1-01A-12D-A40W-08	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3	1	0	1	47	333	0	68	1	9.999963e-01	16	117	0	68	2		0	0	0	0	0	2	1	1.000000	47	331	0	67	2								-20.000000	1	1	0	0		1	0	1	1	1.930017	0	0.390000	1.750000	0.329891	0.570000	4.300000e-01	0.730000	0.570000	0.583453	0.570000	0	0.490000	0.660000
FBXO33	254170	broad.mit.edu	37	14	39868915	39868915	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:39868915G>A	ENST00000298097.7	-	4	1810	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	FBXO33_ENST00000554190.1_3'UTR	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33			9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)		TGCTTTCTTCGGTGACTTCAA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000298097.7	1	1	hg19	CCDS9677.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2	1	0	1	16	108	0	41	1	7.000951e-01	2	16	0	41	2		0	0	0	0	0	2	1	0.999951	16	107	0	41	2								-2.652772	1	1	121412	3	34	1	0	1	1	1.930017	0	0.390000	1.750000	0.329891	0.600000	3.600000e-01	0.890000	0.590000	0.619172	0.600000	0	0.470000	0.750000
DNAH3	55567	broad.mit.edu	37	16	20975272	20975272	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr16:20975272C>T	ENST00000261383.3	-	53	9933	c.9934G>A	c.(9934-9936)Gcc>Acc	p.A3312T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3			202					TCGATGTTGGCCAGGTCCGAG	0.507000																								0							SO:0001583	missense			ENST00000261383.3	1	1	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411746	0.62399	.	.	ENSG00000158486	ENST00000261383	T	0.54479	0.57	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.72181	-0.4368	10	0.54805	T	0.06	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	3312	Q8TD57	DYH3_HUMAN	T	3312	ENSP00000261383:A3312T	ENSP00000261383:A3312T	A	-	1	0	DNAH3	20882773	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	3.964000	0.56780	2.814000	0.96858	0.563000	0.77884	GCC		TCGA-FB-AAQ1-01A-12D-A40W-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	0	0	0	17	455	1	90		0	0	0	1	90	2		0	0	0	0	0	2	0	0.479357	17	448	1	90	18								-3.657397	1	1	0	0		1	2	2	4	2.197270	0	0.390000	1.750000	0.417272	0.200000	1.100000e-01	1.000000	0.200000	0.280266	0.200000	0	0.150000	0.280000
C18orf8	29919	broad.mit.edu	37	18	21099089	21099089	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:21099089C>T	ENST00000269221.3	+	9	910	c.800C>T	c.(799-801)gCc>gTc	p.A267V	C18orf8_ENST00000590868.1_Missense_Mutation_p.A219V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8			21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)				GGAAAGTTTGCCCTGAACGTG	0.428000																								0							SO:0001583	missense			ENST00000269221.3	0	1	hg19	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469800	0.96274	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.85396	0.1128	9	0.52906	T	0.07	-16.5741	19.4282	0.94754	0.0:1.0:0.0:0.0	.	267;219	Q96DM3;F5H2W0	MIC1_HUMAN;.	V	267;110;219;110	.	ENSP00000269221:A267V	A	+	2	0	C18orf8	19353087	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.421000	0.80204	2.599000	0.87857	0.491000	0.48974	GCC		TCGA-FB-AAQ1-01A-12D-A40W-08	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	0	0	0	6	344	0	53	0	7.496300e-02	0	22	0	53	2		0	0	0	0	0	2	1	0.963069	6	337	0	53	2								-2.631405	1	1	0	0		1	1	2	3	2.158149	0	0.390000	1.750000	0.399370	0.090000	3.000000e-02	1.000000	0.090000	0.160831	0.090000	0	0.060000	0.160000
SMCHD1	23347	broad.mit.edu	37	18	2666912	2666912	+	Silent	SNP	G	G	A	rs7229488		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:2666912G>A	ENST00000320876.6	+	3	644	c.306G>A	c.(304-306)tcG>tcA	p.S102S	SMCHD1_ENST00000261598.8_Silent_p.S102S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1			45					TGCTACAGTCGGTCAATCAGT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000320876.6	1	1	hg19	CCDS45822.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2	1	0	1	32	132	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	1.000000	31	129	0	25	2								-2.965284	1	1	120840	25	44	1	1	2	3	2.158149	0	0.390000	1.750000	0.399370	0.990000	7.300000e-01	1.000000	1.000000	0.952232	0.990000	1	0.860000	1.000000
PIAS2	9063	broad.mit.edu	37	18	44470558	44470558	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:44470558T>C	ENST00000585916.1	-	2	483	c.484A>G	c.(484-486)Aag>Gag	p.K162E	PIAS2_ENST00000324794.7_Missense_Mutation_p.K162E|PIAS2_ENST00000545673.1_Intron	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2			22					CTCGTGGGCTTGATGAGAACA	0.398000																								0							SO:0001583	missense			ENST00000585916.1	0	1	hg19	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208609	0.58343	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.44482	0.92	6.16	6.16	0.99307	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	M	0.66297	2.02	0.80722	D	1	D;B;B;B	0.64830	0.994;0.098;0.037;0.357	P;B;B;P	0.62560	0.904;0.364;0.085;0.6	T	0.64550	-0.6381	10	0.87932	D	0	-12.525	16.8061	0.85666	0.0:0.0:0.0:1.0	.	166;162;162;162	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	E	162;162;158;162	ENSP00000317163:K162E	ENSP00000262161:K162E	K	-	1	0	PIAS2	42724556	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	8.013000	0.88655	2.367000	0.80283	0.528000	0.53228	AAG		TCGA-FB-AAQ1-01A-12D-A40W-08	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	0	0	0	4	165	0	19	0	9.402564e-03	0	5	0	19	2		0	0	0	0	0	2	1	0.884143	4	160	0	19	2								-3.458168	1	1	0	0		1	1	2	3	2.158149	0	0.390000	1.750000	0.399370	0.140000	4.000000e-02	1.000000	0.120000	0.205562	0.140000	0	0.080000	0.240000
CILP2	148113	broad.mit.edu	37	19	19655586	19655586	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:19655586C>T	ENST00000291495.5	+	8	2317	c.2232C>T	c.(2230-2232)taC>taT	p.Y744Y	CILP2_ENST00000586018.1_Silent_p.Y750Y	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2			32					TGCGCGCCTACGCCAACGACA	0.682000																								0							SO:0001819	synonymous_variant			ENST00000291495.5	1	1	hg19	CCDS12405.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	1	0	1	18	130	0	31	0	0	0	1	0	31	2		0	0	0	0	0	2	1	0.999982	18	124	0	30	2								-20.000000	1	1	0	0		1	0	1	1	1.929368	0	0.390000	1.750000	0.334170	0.570000	3.500000e-01	0.830000	0.570000	0.587051	0.570000	0	0.450000	0.710000
LRFN1	57622	broad.mit.edu	37	19	39804696	39804696	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:39804696C>T	ENST00000248668.4	-	1	1280	c.1281G>A	c.(1279-1281)cgG>cgA	p.R427R	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1			18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		CTGCCACGAGCCGACGCTCAG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000248668.4	0	1	hg19	CCDS46071.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	0	0	0	4	151	0	36	0	6.838349e-03	0	4	0	36	2		0	0	0	0	0	2	1	0.861800	4	134	0	27	2								-6.661661	1	1	0	0		1	0	1	1	1.929368	0	0.390000	1.750000	0.334170	0.130000	4.000000e-02	0.280000	0.120000	0.147713	0.130000	0	0.070000	0.210000
GYS1	2997	broad.mit.edu	37	19	49485993	49485993	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:49485993G>A	ENST00000323798.3	-	6	1121	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	GYS1_ENST00000540532.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)			22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)			AAATGGCCCCGCACAAACTCC	0.542000																								0							SO:0001583	missense			ENST00000323798.3	0	1	hg19	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728447	0.69074	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188	T;T;T	0.73363	-0.74;-0.74;-0.74	4.98	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.95;0.967	D	0.89154	0.3525	10	0.87932	D	0	-25.235	11.3306	0.49473	0.0:0.0:0.7259:0.2741	.	229;245;309	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	W	309;245;229	ENSP00000317904:R309W;ENSP00000263276:R245W;ENSP00000437922:R229W	ENSP00000263276:R245W	R	-	1	2	GYS1	54177805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.141000	0.58038	2.491000	0.84063	0.561000	0.74099	CGG		TCGA-FB-AAQ1-01A-12D-A40W-08	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	0	0	0	6	527	0	91	0	1.482832e-01	0	51	0	91	2		0	0	0	0	0	2	1	0.963693	6	520	0	91	2								-1.981527	0	1	121412	1	36	1	0	1	1	1.939901	0	0.390000	1.750000	0.338395	0.050000	1.000000e-02	0.110000	0.050000	0.061650	0.050000	0	0.030000	0.080000
HAS1	3036	broad.mit.edu	37	19	52217079	52217079	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:52217079C>T	ENST00000222115.1	-	5	1372	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A	HAS1_ENST00000601714.1_Silent_p.A453A|HAS1_ENST00000540069.2_Silent_p.A445A	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1			40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)			CCGCGAAGGCCGCCTTGGCCA	0.697000													NSCLC(132;636 2450 45807 47979)											0							SO:0001819	synonymous_variant			ENST00000222115.1	0	1	hg19	CCDS12838.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	1	0	1	12	66	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	0.999131	10	65	0	22	2								-19.976910	1	1	120190	1	28	1	0	1	1	1.939901	0	0.390000	1.750000	0.338395	0.720000	4.100000e-01	1.000000	1.000000	0.738741	0.720000	0	0.550000	0.930000
ZSCAN18	65982	broad.mit.edu	37	19	58600197	58600197	+	Silent	SNP	C	C	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:58600197C>A	ENST00000240727.6	-	3	810	c.411G>T	c.(409-411)ctG>ctT	p.L137L	ZSCAN18_ENST00000600404.1_Silent_p.L193L|ZSCAN18_ENST00000601144.1_Silent_p.L137L|ZSCAN18_ENST00000421612.2_Silent_p.L2L	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18			19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)			GGGAGCCCAGCAGCATCCCTG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000240727.6	1	1	hg19	CCDS12971.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	1	0	1	37	240	0	49	0	8.880776e-01	0	27	0	49	2		0	0	0	0	0	2	1	1.000000	37	237	0	49	2								-20.000000	1	1	121408	1	31	1	0	1	1	1.940535	0	0.390000	1.750000	0.346685	0.630000	4.600000e-01	0.830000	0.640000	0.647717	0.630000	0	0.540000	0.740000
PRAM1	84106	broad.mit.edu	37	19	8564207	8564207	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:8564207G>A	ENST00000423345.4	-	2	1005	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PRAM1_ENST00000255612.3_Missense_Mutation_p.A162V			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1			19					CCGGGCCGGCGCACCAGGCTC	0.672000																								0							SO:0001583	missense			ENST00000423345.4	0	1	hg19	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	9.207	1.029946	0.19512	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.16324	2.35;2.35	3.36	-2.6	0.06190	.	3.218910	0.00964	N	0.003140	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	P;P	0.39022	0.516;0.655	B;B	0.28709	0.026;0.093	T	0.13361	-1.0512	10	0.17832	T	0.49	.	1.8153	0.03099	0.1117:0.1719:0.3659:0.3506	.	162;210	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	V	162	ENSP00000255612:A162V;ENSP00000408342:A162V	ENSP00000255612:A162V	A	-	2	0	PRAM1	8470207	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.630000	0.05502	-0.457000	0.07033	0.591000	0.81541	GCG		TCGA-FB-AAQ1-01A-12D-A40W-08	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	1	0	0	12	98	0	14	0	4.086636e-01	0	12	0	14	2		0	0	0	0	0	2	1	0.999116	12	94	0	14	2								-18.992210	1	1	0	0		1	0	1	1	1.929368	0	0.390000	1.750000	0.334170	0.510000	2.800000e-01	0.810000	0.500000	0.535414	0.510000	0	0.390000	0.670000
ZNF560	147741	broad.mit.edu	37	19	9577789	9577789	+	Missense_Mutation	SNP	G	G	A	rs145243922		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:9577789G>A	ENST00000301480.4	-	10	2047	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	p.R612C(1)		65					AGATCTGAGCGTTCTGTGAAG	0.418000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000301480.4	1	1	hg19	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241694	0.58995	0.0	3.49E-4	ENSG00000198028	ENST00000301480	T	0.16073	2.37	1.89	0.846	0.18955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21550	0.0519	L	0.49455	1.56	0.09310	N	1	D	0.76494	0.999	P	0.53954	0.738	T	0.11348	-1.0591	9	0.38643	T	0.18	.	4.7062	0.12851	0.8013:0.0:0.1987:0.0	.	612	Q96MR9	ZN560_HUMAN	C	612	ENSP00000301480:R612C	ENSP00000301480:R612C	R	-	1	0	ZNF560	9438789	0.000000	0.05858	0.000000	0.03702	0.905000	0.53344	-0.740000	0.04861	0.199000	0.20427	0.313000	0.20887	CGC		TCGA-FB-AAQ1-01A-12D-A40W-08	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	1	0	1	54	491	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1.000000	54	482	0	124	2								-16.614390	1	1	121408	15	47	1	0	1	1	1.929368	0	0.390000	1.750000	0.334170	0.460000	3.500000e-01	0.590000	0.460000	0.470673	0.460000	0	0.400000	0.530000
FLG	2312	broad.mit.edu	37	1	152282228	152282228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:152282228G>A	ENST00000368799.1	-	3	5169	c.5134C>T	c.(5134-5136)Cga>Tga	p.R1712*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		CTGGACCCTCGGTTTCCACTG	0.587000									Ichthyosis															0							SO:0001587	stop_gained	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	0	1	hg19	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	41	8.752868	0.98941	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.51	-1.23	0.09465	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	1.6399	0.02750	0.1149:0.1803:0.3369:0.3679	.	.	.	.	X	1712	.	ENSP00000357789:R1712X	R	-	1	2	FLG	150548852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.579000	0.00907	-0.196000	0.10366	-0.840000	0.03056	CGA		TCGA-FB-AAQ1-01A-12D-A40W-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	0	250	1100	0	298	0	0	0	1	0	298	2		0	0	0	0	0	2	1	1.000000	249	1080	0	296	2								-2.882255	1	1	121412	1	45	1	0	0	0	2.081284	0	0.390000	1.750000	0.385205	0.930000	8.300000e-01	1.000000	1.000000	0.939160	0.930000	1	0.880000	1.000000
ATP8B2	57198	broad.mit.edu	37	1	154316375	154316375	+	Missense_Mutation	SNP	G	G	A	rs141457358	by1000genomes	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:154316375G>A	ENST00000368489.3	+	18	1864	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2		IL6R/ATP8B2(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		CCAGGAGTACGCAGGGGAAGG	0.592000																								0							SO:0001583	missense			ENST00000368489.3	1	1	hg19	CCDS1066.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.57	3.852315	0.71719	0.0	1.16E-4	ENSG00000143515	ENST00000368489	D	0.86297	-2.1	5.64	5.64	0.86602	.	0.059984	0.64402	D	0.000004	D	0.95865	0.8654	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.96491	0.9364	10	0.87932	D	0	.	18.4499	0.90700	0.0:0.0:1.0:0.0	.	622	P98198-3	.	T	622	ENSP00000357475:A622T	ENSP00000357475:A622T	A	+	1	0	ATP8B2	152582999	1.000000	0.71417	0.288000	0.24862	0.015000	0.08874	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	GCA		TCGA-FB-AAQ1-01A-12D-A40W-08	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	1	0	1	44	198	0	29	0	5.710564e-01	0	10	0	29	2		0	0	0	0	0	2	1	1.000000	44	196	0	29	2								-3.448627	1	1	121410	2	35	1	0	0	0	2.081284	0	0.390000	1.750000	0.385205	0.920000	6.900000e-01	1.000000	1.000000	0.908201	0.920000	1	0.800000	1.000000
OXCT2	64064	broad.mit.edu	37	1	40236249	40236249	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:40236249C>T	ENST00000327582.5	-	1	771	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2			6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)	Succinic acid(DB00139)	AAATTGCGGGCGCTTCTCCTG	0.622000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000327582.5	0	1	hg19	CCDS445.1	.	.	.	.	.	.	.	.	.	.	c	18.39	3.614569	0.66672	.	.	ENSG00000198754	ENST00000327582;ENST00000542949	D	0.88201	-2.35	2.58	1.63	0.23807	.	0.055777	0.64402	U	0.000001	D	0.90628	0.7061	.	.	.	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	P;P	0.58660	0.843;0.843	D	0.88046	0.2784	9	0.41790	T	0.15	.	8.6338	0.33935	0.23:0.7699:0.0:0.0	.	227;227	B3KS89;Q9BYC2	.;SCOT2_HUMAN	T	227	ENSP00000361914:A227T	ENSP00000361914:A227T	A	-	1	0	OXCT2	40008836	1.000000	0.71417	0.145000	0.22337	0.003000	0.03518	3.115000	0.50391	0.610000	0.30035	0.604000	0.83254	GCC		TCGA-FB-AAQ1-01A-12D-A40W-08	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025656.1	1	0	0	38	331	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1.000000	36	299	0	74	2								-20.000000	1	1	0	0		1	0	1	1	2.100853	0	0.390000	1.750000	0.388808	0.520000	3.800000e-01	0.690000	0.520000	0.535746	0.520000	0	0.440000	0.610000
TMEM59	9528	broad.mit.edu	37	1	54518728	54518728	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:54518728G>A	ENST00000234831.5	-	1	383	c.134C>T	c.(133-135)aCg>aTg	p.T45M	TCEANC2_ENST00000234827.1_5'Flank|TCEANC2_ENST00000371331.1_5'Flank|MIR4781_ENST00000585250.1_RNA|TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.T45M	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59			7					GCAAGACGCCGTATCACCCAA	0.657000																								0							SO:0001583	missense			ENST00000234831.5	0	1	hg19	CCDS586.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296523	0.60086	.	.	ENSG00000116209	ENST00000234831;ENST00000371338;ENST00000452421;ENST00000371337	T;T;T	0.53423	0.63;0.63;0.62	5.12	5.12	0.69794	.	0.049713	0.85682	D	0.000000	T	0.61640	0.2363	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.925;0.959;0.931;0.953	T	0.63287	-0.6671	10	0.72032	D	0.01	-9.1589	14.3713	0.66840	0.0:0.1476:0.8524:0.0	.	45;45;45;45	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	M	45	ENSP00000234831:T45M;ENSP00000397772:T45M;ENSP00000360388:T45M	ENSP00000234831:T45M	T	-	2	0	TMEM59	54291316	1.000000	0.71417	0.989000	0.46669	0.173000	0.22820	7.028000	0.76470	2.653000	0.90120	0.655000	0.94253	ACG		TCGA-FB-AAQ1-01A-12D-A40W-08	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	0	0	0	6	288	0	51	0	9.990584e-01	0	728	0	51	2		0	0	0	0	0	2	1	0.962718	5	282	0	50	2								-3.041771	1	1	0	0		1	0	1	1	2.100853	0	0.390000	1.750000	0.388808	0.100000	4.000000e-02	0.210000	0.100000	0.120396	0.100000	0	0.070000	0.160000
AVP	551	broad.mit.edu	37	20	3065237	3065237	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr20:3065237G>A	ENST00000380293.3	-	1	133	c.84C>T	c.(82-84)ggC>ggT	p.G28G		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin			3					CCCTCTTGCCGCCCCTCGGGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000380293.3	1	1	hg19	CCDS13045.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	1	0	1	84	632	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1.000000	83	612	0	109	2								-20.000000	1	1	121412	2	39	1	0	1	1	1.939743	0	0.390000	1.750000	0.335584	0.540000	4.400000e-01	0.660000	0.550000	0.555838	0.540000	0	0.490000	0.610000
PTPN1	5770	broad.mit.edu	37	20	49195731	49195731	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr20:49195731C>T	ENST00000371621.3	+	7	903	c.729C>T	c.(727-729)tcC>tcT	p.S243S	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Silent_p.S170S	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	p.S243S(1)		16		Lung NSC(126;0.163)		Tiludronate(DB01133)	ACCCTTCTTCCGTTGATATCA	0.483000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000371621.3	1	1	hg19	CCDS13430.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2	1	0	1	87	591	0	125	1	9.782649e-01	6	37	0	125	2		0	0	0	0	0	2	1	1.000000	85	584	0	125	2								-2.578431	1	1	0	0		1	0	1	1	2.022946	0	0.390000	1.750000	0.357421	0.620000	5.000000e-01	0.750000	0.620000	0.628335	0.620000	0	0.560000	0.690000
SGSM1	129049	broad.mit.edu	37	22	25294312	25294312	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr22:25294312C>T	ENST00000400359.4	+	20	2568	c.2561C>T	c.(2560-2562)aCg>aTg	p.T854M	SGSM1_ENST00000400358.4_Missense_Mutation_p.T799M|SNORD56_ENST00000362913.1_RNA	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1			41					ATGTCCATCACGGGCAGCCTG	0.612000																								0							SO:0001583	missense			ENST00000400359.4	1	1	hg19	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330557	0.24167	0.0	1.17E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.07114	3.22;3.23	5.24	4.21	0.49690	Rab-GAP/TBC domain (2);	0.677319	0.14164	U	0.337193	T	0.10121	0.0248	L	0.34521	1.04	0.09310	N	1	P;P;D;P	0.59767	0.851;0.54;0.986;0.923	B;B;P;B	0.47206	0.204;0.023;0.541;0.266	T	0.17440	-1.0369	10	0.42905	T	0.14	-0.2681	11.6566	0.51322	0.1388:0.7275:0.1338:0.0	.	799;854;871;854	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	M	854;799;854	ENSP00000383211:T799M;ENSP00000383212:T854M	ENSP00000383211:T799M	T	+	2	0	SGSM1	23624312	0.004000	0.15560	0.388000	0.26195	0.808000	0.45660	1.049000	0.30392	1.327000	0.45338	0.591000	0.81541	ACG		TCGA-FB-AAQ1-01A-12D-A40W-08	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	1	0	1	54	176	0	42	0	2.394316e-01	0	4	0	42	2		0	0	0	0	0	2	1	1.000000	54	173	0	39	2								-20.000000	1	1	121242	3	38	1	0	1	1	1.777601	1	0.390000	1.750000	0.245889	0.910000	7.300000e-01	1.000000	1.000000	0.909661	0.910000	1	0.820000	0.990000
SAMM50	25813	broad.mit.edu	37	22	44384997	44384997	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr22:44384997A>G	ENST00000350028.4	+	13	1239	c.1082A>G	c.(1081-1083)tAc>tGc	p.Y361C	SAMM50_ENST00000396202.3_Missense_Mutation_p.Y151C	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component			22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)			TTAGGAGACTACCTAGGTGGA	0.517000																								0							SO:0001583	missense			ENST00000350028.4	1	1	hg19	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988993	0.53934	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.42131	0.98;0.98	4.21	4.21	0.49690	Bacterial surface antigen (D15) (1);	0.063355	0.64402	D	0.000004	T	0.50888	0.1642	L	0.40543	1.245	0.80722	D	1	B;D	0.55385	0.022;0.971	B;P	0.62649	0.021;0.905	T	0.48305	-0.9047	10	0.41790	T	0.15	-20.455	12.8072	0.57619	1.0:0.0:0.0:0.0	.	166;361	B3KUE6;Q9Y512	.;SAM50_HUMAN	C	361;151	ENSP00000345445:Y361C;ENSP00000379505:Y151C	ENSP00000345445:Y361C	Y	+	2	0	SAMM50	42716330	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.497000	0.66924	1.682000	0.51000	0.528000	0.53228	TAC		TCGA-FB-AAQ1-01A-12D-A40W-08	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	1	0	1	130	383	0	98	1	1	39	45	0	98	2		0	0	0	0	0	2	1	1.000000	127	375	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.776780	1	0.390000	1.750000	0.249508	0.980000	8.700000e-01	1.000000	1.000000	0.975070	0.980000	1	0.930000	1.000000
HECW2	57520	broad.mit.edu	37	2	197187274	197187274	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:197187274C>T	ENST00000260983.3	-	7	994	c.812G>A	c.(811-813)cGt>cAt	p.R271H	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					GATGATGGGACGGCTCTTGGC	0.423000																								0							SO:0001583	missense			ENST00000260983.3	1	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137069	0.94517	.	.	ENSG00000138411	ENST00000260983	T	0.46451	0.87	5.49	4.6	0.57074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.191653	0.47455	D	0.000223	T	0.44973	0.1319	M	0.75447	2.3	0.58432	D	0.999998	B	0.29627	0.252	B	0.26614	0.071	T	0.51741	-0.8667	10	0.87932	D	0	.	14.9482	0.71050	0.0:0.9304:0.0:0.0696	.	271	Q9P2P5	HECW2_HUMAN	H	271	ENSP00000260983:R271H	ENSP00000260983:R271H	R	-	2	0	HECW2	196895519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.912000	0.69948	2.878000	0.98634	0.650000	0.86243	CGT		TCGA-FB-AAQ1-01A-12D-A40W-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1	64	518	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1.000000	63	511	0	128	2								-19.960200	1	1	0	0		1	0	1	1	1.946150	0	0.390000	1.750000	0.331324	0.510000	4.000000e-01	0.630000	0.510000	0.518889	0.510000	0	0.450000	0.580000
FZD7	8324	broad.mit.edu	37	2	202900003	202900003	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:202900003C>T	ENST00000286201.1	+	1	694	c.633C>T	c.(631-633)ccC>ccT	p.P211P	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7			31					TCTCATGCCCCCGTCAGCTCA	0.711000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000286201.1	0	1	hg19	CCDS2351.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	1	0	0	7	125	0	22	0	2.160986e-02	1	3	0	22	2		0	0	0	0	0	2	1	0.981019	7	124	0	21	2								-10.654640	1	1	0	0		1	0	1	1	1.946150	0	0.390000	1.750000	0.331324	0.250000	1.100000e-01	0.470000	0.240000	0.275058	0.250000	0	0.170000	0.360000
SPEG	10290	broad.mit.edu	37	2	220356970	220356970	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:220356970C>A	ENST00000312358.7	+	40	9731	c.9599C>A	c.(9598-9600)tCt>tAt	p.S3200Y	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus			100		Renal(207;0.0183)			AAGGTTCTCTCTGTACATCCC	0.612000																								0							SO:0001583	missense			ENST00000312358.7	0	1	hg19	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218399	0.58560	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66099	-0.19	4.29	4.29	0.51040	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.31450	U	0.007628	T	0.70675	0.3251	L	0.48362	1.52	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.73235	-0.4047	10	0.62326	D	0.03	.	13.2469	0.60028	0.0:0.8395:0.1605:0.0	.	3200	Q15772	SPEG_HUMAN	Y	3200	ENSP00000311684:S3200Y	ENSP00000265327:S3200Y	S	+	2	0	SPEG	220065214	0.998000	0.40836	1.000000	0.80357	0.935000	0.57460	3.968000	0.56809	2.229000	0.72834	0.467000	0.42956	TCT		TCGA-FB-AAQ1-01A-12D-A40W-08	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	0	0	0	5	288	0	48	0	4.809895e-04	0	2	0	48	2		0	0	0	0	0	2	1	0.934616	4	283	0	48	2								-4.040233	1	0	0	0		1	0	1	1	1.946150	0	0.390000	1.750000	0.331324	0.080000	2.000000e-02	0.170000	0.080000	0.094499	0.080000	0	0.050000	0.130000
UBE2F	140739	broad.mit.edu	37	2	238940869	238940869	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:238940869G>A	ENST00000272930.4	+	8	612	c.418G>A	c.(418-420)Gtt>Att	p.V140I	UBE2F_ENST00000414443.1_Missense_Mutation_p.V108I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000409332.1_Missense_Mutation_p.V118I|UBE2F_ENST00000409953.1_Missense_Mutation_p.V116I|UBE2F_ENST00000409633.1_Missense_Mutation_p.V140I	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)			2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)			TCAGGATGTCGTTTGGGGATT	0.338000																								0							SO:0001583	missense			ENST00000272930.4	1	1	hg19	CCDS2523.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260616	0.23051	.	.	ENSG00000184182	ENST00000272930;ENST00000416292;ENST00000409633;ENST00000414443;ENST00000409953;ENST00000409332;ENST00000434655;ENST00000434137	T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	4.87	4.87	0.63330	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.063698	0.64402	N	0.000007	T	0.50514	0.1620	N	0.05554	-0.025	0.44719	D	0.997713	B;B	0.17852	0.024;0.0	B;B	0.16289	0.015;0.004	T	0.47156	-0.9139	10	0.30854	T	0.27	-20.783	13.8838	0.63696	0.0:0.0:1.0:0.0	.	108;140	Q969M7-3;Q969M7	.;UBE2F_HUMAN	I	140;108;140;108;116;118;140;130	ENSP00000272930:V140I;ENSP00000390813:V108I;ENSP00000387299:V140I;ENSP00000399183:V108I;ENSP00000386680:V116I;ENSP00000387060:V118I;ENSP00000406113:V140I;ENSP00000414619:V130I	ENSP00000272930:V140I	V	+	1	0	UBE2F	238605608	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.227000	0.78070	2.419000	0.82065	0.655000	0.94253	GTT		TCGA-FB-AAQ1-01A-12D-A40W-08	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257171.2	1	0	0	9	158	0	45	1	9.863845e-01	23	112	0	45	2		0	0	0	0	0	2	1	0.994465	9	157	0	44	2								-4.826430	1	1	121406	2	32	1	0	1	1	1.946150	0	0.390000	1.750000	0.331324	0.250000	1.200000e-01	0.440000	0.250000	0.273491	0.250000	0	0.180000	0.350000
THADA	63892	broad.mit.edu	37	2	43787408	43787408	+	Silent	SNP	G	G	A	rs78531159		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:43787408G>A	ENST00000405006.4	-	16	2779	c.2428C>T	c.(2428-2430)Ctg>Ttg	p.L810L	THADA_ENST00000405975.2_Silent_p.L810L|THADA_ENST00000415080.2_Silent_p.L520L|THADA_ENST00000404790.1_Silent_p.L810L|THADA_ENST00000402360.2_Silent_p.L810L|THADA_ENST00000330266.7_Silent_p.L520L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated			66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)			AACTTCATCAGAAGATCAAAT	0.338000																								0							SO:0001819	synonymous_variant			ENST00000405006.4	1	1	hg19	CCDS46268.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1	24	67	0	19	0	6.675736e-01	0	8	0	19	2		0	0	0	0	0	2	1	1.000000	24	66	0	19	2								-18.967400	1	1	0	0		1	0	1	1	1.733625	1	0.390000	1.750000	0.244067	0.900000	6.700000e-01	1.000000	1.000000	0.895144	0.900000	1	0.790000	0.980000
BCHE	590	broad.mit.edu	37	3	165547794	165547794	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:165547794G>T	ENST00000264381.3	-	2	1194	c.1028C>A	c.(1027-1029)aCc>aAc	p.T343N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase			55				Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CAAAATCTGGGTTTTTTTAAA	0.383000																								0		GRCh37	CI951904	BCHE	I		SO:0001583	missense			ENST00000264381.3	1	1	hg19	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913768	0.33815	.	.	ENSG00000114200	ENST00000264381	D	0.95342	-3.68	5.62	5.62	0.85841	Carboxylesterase, type B (1);	0.151216	0.64402	D	0.000015	D	0.97315	0.9122	M	0.86028	2.79	0.80722	D	1	P	0.48834	0.916	P	0.61477	0.889	D	0.97737	1.0206	10	0.87932	D	0	.	18.6354	0.91376	0.0:0.0:1.0:0.0	.	343	P06276	CHLE_HUMAN	N	343	ENSP00000264381:T343N	ENSP00000264381:T343N	T	-	2	0	BCHE	167030488	1.000000	0.71417	0.999000	0.59377	0.272000	0.26649	3.334000	0.52097	2.652000	0.90054	0.655000	0.94253	ACC		TCGA-FB-AAQ1-01A-12D-A40W-08	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	1	0	0	18	174	0	43	0	1.127062e-01	0	6	0	43	2		0	0	0	0	0	2	1	0.999986	18	174	0	43	2								-8.236143	1	1	0	0		1	1	2	3	2.125667	0	0.390000	1.750000	0.394721	0.490000	3.000000e-01	1.000000	0.480000	0.516470	0.490000	0	0.390000	0.620000
DCLK3	85443	broad.mit.edu	37	3	36759634	36759634	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:36759634G>A	ENST00000416516.2	-	4	2110	c.1620C>T	c.(1618-1620)ggC>ggT	p.G540G	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	p.G540G(1)		48					AGAGGATCACGCCAGCAGCCC	0.547000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000416516.2	1	1	hg19	CCDS43064.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	1	0	1	132	591	0	132	0	0	0	1	0	132	2		0	0	0	0	0	2	1	1.000000	129	579	1	129	19								-20.000000	1	1	121190	2	36	1	0	1	1	2.004812	0	0.390000	1.750000	0.358739	0.880000	7.500000e-01	1.000000	1.000000	0.890505	0.880000	1	0.810000	0.960000
AP1AR	55435	broad.mit.edu	37	4	113181980	113181980	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:113181980G>A	ENST00000274000.5	+	5	599	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	AP1AR_ENST00000309703.6_Missense_Mutation_p.E82K	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein			9					TTCCATTGCCGAAAAACAAAA	0.299000																								0							SO:0001583	missense			ENST00000274000.5	0	1	hg19	CCDS3696.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991977	0.74703	0.0	1.16E-4	ENSG00000138660	ENST00000274000;ENST00000309703	T;T	0.52526	0.71;0.66	5.51	5.51	0.81932	.	0.052746	0.85682	D	0.000000	T	0.44685	0.1305	L	0.50333	1.59	0.45607	D	0.998545	P;P;P	0.47034	0.889;0.889;0.889	B;B;B	0.36922	0.236;0.236;0.236	T	0.52764	-0.8532	10	0.66056	D	0.02	-10.341	19.3993	0.94621	0.0:0.0:1.0:0.0	.	82;82;82	B2RCV7;Q63HQ0-2;Q63HQ0	.;.;AP1AR_HUMAN	K	82	ENSP00000274000:E82K;ENSP00000309023:E82K	ENSP00000274000:E82K	E	+	1	0	AP1AR	113401429	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.042000	0.70996	2.579000	0.87056	0.585000	0.79938	GAA		TCGA-FB-AAQ1-01A-12D-A40W-08	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	0	0	0	4	146	0	37	0	1.688819e-01	0	22	0	37	2		0	0	0	0	0	2	1	0.891422	5	145	0	37	2								-3.049653	1	1	121350	14	36	1	1	2	3	2.141371	0	0.390000	1.750000	0.395890	0.150000	4.000000e-02	1.000000	0.140000	0.200183	0.150000	0	0.090000	0.250000
STOX2	56977	broad.mit.edu	37	4	184930914	184930914	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:184930914G>A	ENST00000308497.4	+	3	2358	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	STOX2_ENST00000438269.1_Missense_Mutation_p.R308Q	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2			14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)			ACGATCCCTCGGGAAGTAGAG	0.502000																								0							SO:0001583	missense			ENST00000308497.4	1	1	hg19	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854494	0.71719	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;D	0.85629	-1.07;-2.01	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.75615	2.305	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	D	0.91940	0.5562	10	0.72032	D	0.01	-18.9454	20.6634	0.99662	0.0:0.0:1.0:0.0	.	308	Q9P2F5	STOX2_HUMAN	Q	308	ENSP00000311257:R308Q;ENSP00000390127:R308Q	ENSP00000311257:R308Q	R	+	2	0	STOX2	185167908	1.000000	0.71417	0.986000	0.45419	0.053000	0.15095	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	CGG		TCGA-FB-AAQ1-01A-12D-A40W-08	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	1	24	84	0	16	0	5.323505e-02	0	2	0	16	2		0	0	0	0	0	2	1	1.000000	25	79	0	16	2								-3.913069	1	1	120888	1	23	1	1	2	3	2.141371	0	0.390000	1.750000	0.395890	0.990000	7.800000e-01	1.000000	1.000000	0.978107	0.990000	1	0.950000	1.000000
BEND4	389206	broad.mit.edu	37	4	42127607	42127607	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:42127607G>A	ENST00000502486.1	-	4	1718	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	BEND4_ENST00000504360.1_Missense_Mutation_p.P376L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4			26					TACCTCTGTCGGCTGGTCAGC	0.458000																								0							SO:0001583	missense			ENST00000502486.1	1	1	hg19	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	G	5.183	0.219366	0.09863	5.17E-4	0.0	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.67	5.67	0.87782	.	0.061993	0.64402	D	0.000003	T	0.28962	0.0719	N	0.08118	0	0.80722	D	1	P;B;P	0.39862	0.692;0.233;0.692	B;B;B	0.28465	0.09;0.024;0.09	T	0.24799	-1.0150	9	0.09590	T	0.72	-9.3894	19.773	0.96379	0.0:0.0:1.0:0.0	.	302;380;380	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	L	251;380;376	.	ENSP00000412495:P251L	P	-	2	0	BEND4	41822364	1.000000	0.71417	0.961000	0.40146	0.018000	0.09664	7.109000	0.77062	2.677000	0.91161	0.655000	0.94253	CCG		TCGA-FB-AAQ1-01A-12D-A40W-08	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	1	0	1	52	139	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1.000000	51	134	0	33	2								-5.080024	1	1	120870	8	40	1	0	1	1	1.734875	1	0.390000	1.750000	0.242236	0.940000	7.900000e-01	1.000000	0.990000	0.936901	0.940000	1	0.870000	0.990000
TIGD2	166815	broad.mit.edu	37	4	90034245	90034245	+	Silent	SNP	C	C	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:90034245C>A	ENST00000317005.2	+	1	278	c.120C>A	c.(118-120)tcC>tcA	p.S40S	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2			14		Hepatocellular(203;0.114)			TTGGTGAATCCACAGTTCGTG	0.363000																								0							SO:0001819	synonymous_variant			ENST00000317005.2	1	1	hg19	CCDS3633.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	1	0	1	44	291	0	74	0	1.364690e-01	0	5	0	74	2		0	0	0	0	0	2	1	1.000000	43	286	0	74	2								-2.620085	1	1	0	0		1	0	1	1	1.734875	1	0.390000	1.750000	0.242236	0.530000	4.000000e-01	0.690000	0.540000	0.546113	0.530000	0	0.460000	0.620000
SPINK5	11005	broad.mit.edu	37	5	147510862	147510862	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:147510862T>C	ENST00000256084.7	+	31	3047	c.3005T>C	c.(3004-3006)aTa>aCa	p.I1002T	SPINK5_ENST00000359874.3_Missense_Mutation_p.I1032T	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5			64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TTGCCCAGGATAGGTTATCTT	0.428000																								0							SO:0001583	missense			ENST00000256084.7	1	1	hg19	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742273	0.30865	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.74421	-0.84;-0.84	4.69	4.69	0.59074	Proteinase inhibitor I1, Kazal (2);	0.845660	0.10791	N	0.633739	T	0.61223	0.2330	N	0.16478	0.41	0.28781	N	0.899811	P;B	0.35139	0.486;0.254	B;B	0.39465	0.199;0.3	T	0.51764	-0.8664	10	0.14252	T	0.57	-0.0909	11.1055	0.48201	0.0:0.0:0.0:1.0	.	1032;1002	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	T	1032;1002	ENSP00000352936:I1032T;ENSP00000256084:I1002T	ENSP00000256084:I1002T	I	+	2	0	SPINK5	147491055	1.000000	0.71417	0.907000	0.35723	0.764000	0.43329	2.219000	0.42899	2.034000	0.60081	0.533000	0.62120	ATA		TCGA-FB-AAQ1-01A-12D-A40W-08	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	1	0	1	145	667	0	161	1	4.968879e-01	8	1	0	161	2		0	0	0	0	0	2	1	1.000000	145	660	0	161	2								-20.000000	1	1	0	0		1	1	2	3	2.144092	0	0.390000	1.750000	0.397054	0.920000	7.900000e-01	1.000000	1.000000	0.926478	0.920000	1	0.850000	1.000000
NIPBL	25836	broad.mit.edu	37	5	36985035	36985035	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:36985035A>G	ENST00000282516.8	+	10	2252	c.1753A>G	c.(1753-1755)Att>Gtt	p.I585V	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.I585V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)			128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		TCAGGAAGATATTGTTGGAAG	0.373000																								0							SO:0001583	missense			ENST00000282516.8	1	1	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.275777	0.00254	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92752	-3.1;-3.1	5.98	-0.428	0.12306	.	0.570820	0.19739	N	0.107161	T	0.80813	0.4695	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.66658	-0.5868	10	0.27785	T	0.31	.	7.573	0.27920	0.6467:0.1081:0.2451:0.0	.	585;585	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	585	ENSP00000282516:I585V;ENSP00000406266:I585V	ENSP00000282516:I585V	I	+	1	0	NIPBL	37020792	0.008000	0.16893	0.990000	0.47175	0.789000	0.44602	-0.310000	0.08135	-0.064000	0.13043	-1.140000	0.01884	ATT		TCGA-FB-AAQ1-01A-12D-A40W-08	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	0	27	354	0	72	0	1.570288e-02	0	3	0	72	2		0	0	0	0	0	2	1	1.000000	27	349	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.144092	0	0.390000	1.750000	0.397054	0.370000	2.400000e-01	1.000000	0.370000	0.407007	0.370000	0	0.300000	0.460000
IL31RA	133396	broad.mit.edu	37	5	55203287	55203287	+	Splice_Site	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:55203287C>T	ENST00000447346.2	+	10	1418	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G	IL31RA_ENST00000396834.1_Splice_Site_p.G432G|IL31RA_ENST00000490985.1_Splice_Site_p.G309G|IL31RA_ENST00000359040.5_Splice_Site_p.G451G|IL31RA_ENST00000297015.3_Splice_Site_p.G309G|IL31RA_ENST00000396836.2_Splice_Site_p.G451G|IL31RA_ENST00000354961.4_Splice_Site_p.G432G	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A			21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)			CCAAAGAAGGCGGTATGAATG	0.463000																								0							SO:0001630	splice_region_variant			ENST00000447346.2	1	0	hg19	CCDS3970.2																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	1	0	1	42	233	0	65	0	6.578289e-02	0	3	0	65	2		0	0	0	0	0	2	1	1.000000	36	210	0	62	2								-3.086833	1	1	121410	4	37	1	1	2	3	2.144092	0	0.390000	1.750000	0.397054	0.790000	5.900000e-01	1.000000	1.000000	0.808078	0.790000	0	0.680000	0.940000
DEPDC1B	55789	broad.mit.edu	37	5	59941390	59941390	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:59941390G>A	ENST00000265036.5	-	4	574	c.507C>T	c.(505-507)tgC>tgT	p.C169C	DEPDC1B_ENST00000453022.2_Silent_p.C169C|DEPDC1B_ENST00000545085.1_Silent_p.C142C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B			17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)			GGACAAGACGGCAAGCTGGCA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000265036.5	0	1	hg19	CCDS3977.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	0	0	0	5	287	0	50	0	6.149756e-02	0	19	0	50	2		0	0	0	0	0	2	1	0.937504	5	286	0	48	2								-2.897948	1	1	0	0		1	1	2	3	2.144092	0	0.390000	1.750000	0.397054	0.090000	3.000000e-02	1.000000	0.090000	0.147351	0.090000	0	0.050000	0.160000
SLC22A16	85413	broad.mit.edu	37	6	110763856	110763856	+	Silent	SNP	A	A	G			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:110763856A>G	ENST00000368919.3	-	4	840	c.774T>C	c.(772-774)gcT>gcC	p.A258A	SLC22A16_ENST00000330550.4_Silent_p.A224A|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000439654.1_Silent_p.A258A|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16			34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		Doxorubicin(DB00997)|L-Carnitine(DB00583)	ATCCTGTCAAAGCCACCAGCA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000368919.3	1	1	hg19	CCDS5084.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	1	0	1	63	201	0	35	0	1.468706e-01	0	3	0	35	2		0	0	0	0	0	2	1	1.000000	63	199	0	35	2								-20.000000	1	1	0	0		1	0	1	1	1.730651	1	0.390000	1.750000	0.244067	0.920000	7.500000e-01	1.000000	1.000000	0.917137	0.920000	1	0.840000	0.990000
OR10C1	442194	broad.mit.edu	37	6	29408444	29408444	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:29408444G>A	ENST00000444197.2	+	1	1362	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)			27					GGGCTCCTACGGGCGTATCCT	0.582000																								0							SO:0001583	missense			ENST00000444197.2	1	1	hg19	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	8.744	0.919636	0.17982	.	.	ENSG00000206474	ENST00000444197	T	0.00115	8.71	3.49	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	0.205323	0.24373	N	0.039086	T	0.00178	0.0005	M	0.81614	2.55	0.09310	N	1	D	0.71674	0.998	D	0.67548	0.952	T	0.27571	-1.0070	10	0.41790	T	0.15	.	7.9844	0.30202	0.0:0.176:0.6423:0.1818	.	218	Q96KK4	O10C1_HUMAN	R	218	ENSP00000419119:G218R	ENSP00000419119:G218R	G	+	1	0	OR10C1	29516423	0.000000	0.05858	0.117000	0.21633	0.024000	0.10985	-0.907000	0.04067	0.667000	0.31107	-0.234000	0.12200	GGG		TCGA-FB-AAQ1-01A-12D-A40W-08	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2	1	0	1	156	608	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	1.000000	155	600	0	132	2								-2.585951	1	1	0	0		1	0	1	1	1.938908	0	0.390000	1.750000	0.329891	0.940000	8.100000e-01	1.000000	1.000000	0.943820	0.940000	1	0.880000	1.000000
VARS	7407	broad.mit.edu	37	6	31748522	31748522	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:31748522G>A	ENST00000375663.3	-	24	3197	c.2757C>T	c.(2755-2757)acC>acT	p.T919T	VARS_ENST00000482996.1_5'UTR|Y_RNA_ENST00000364685.1_RNA	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase			30				L-Valine(DB00161)	GGAGAGCATCGGTGCCACATT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000375663.3	1	1	hg19	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	8.703	0.910187	0.17833	.	.	ENSG00000204394	ENST00000428445	.	.	.	5.09	-10.2	0.00374	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.4231	9.2143	0.37337	0.7013:0.0811:0.1308:0.0867	.	.	.	.	X	237	.	.	R	-	1	2	VARS	31856501	0.000000	0.05858	0.237000	0.24090	0.967000	0.64934	-3.317000	0.00514	-2.299000	0.00659	-0.742000	0.03525	CGA		TCGA-FB-AAQ1-01A-12D-A40W-08	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	1	0	1	64	279	0	52	1	1	56	114	0	52	2		0	0	0	0	0	2	1	1.000000	64	272	0	52	2								-2.986860	1	1	121412	2	33	1	0	1	1	1.943868	0	0.390000	1.750000	0.345318	0.880000	7.000000e-01	1.000000	1.000000	0.887020	0.880000	1	0.790000	0.990000
IP6K3	117283	broad.mit.edu	37	6	33690903	33690903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:33690903G>T	ENST00000293756.4	-	6	1153	c.827C>A	c.(826-828)tCa>tAa	p.S276*	IP6K3_ENST00000451316.1_Nonsense_Mutation_p.S276*	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3			1					CCCCTCCACTGAGAGTTTTCT	0.453000																								0							SO:0001587	stop_gained			ENST00000293756.4	0	1	hg19	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	G	40	8.349889	0.98772	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	.	.	.	5.74	4.87	0.63330	.	0.121990	0.37715	N	0.001964	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2462	11.4635	0.50223	0.0:0.136:0.7227:0.1413	.	.	.	.	X	276	.	ENSP00000293756:S276X	S	-	2	0	IP6K3	33798881	1.000000	0.71417	0.613000	0.29037	0.989000	0.77384	6.643000	0.74334	1.398000	0.46701	0.655000	0.94253	TCA		TCGA-FB-AAQ1-01A-12D-A40W-08	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	1	0	1	22	219	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	0.999999	22	214	0	55	2								-3.318795	1	1	0	0		1	0	1	1	1.954277	0	0.390000	1.750000	0.331324	0.420000	2.700000e-01	0.610000	0.430000	0.439100	0.420000	0	0.340000	0.520000
RELN	5649	broad.mit.edu	37	7	103180720	103180720	+	Missense_Mutation	SNP	C	C	T	rs116394157	by1000genomes	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:103180720C>T	ENST00000428762.1	-	44	7013	c.6854G>A	c.(6853-6855)cGt>cAt	p.R2285H	RELN_ENST00000343529.5_Missense_Mutation_p.R2285H|RELN_ENST00000424685.2_Missense_Mutation_p.R2285H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					AGAACCAGAACGGGCTTTCAA	0.527000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001583	missense			ENST00000428762.1	1	1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793262	0.90453	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25085	2.01;2.01;1.82	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	M	0.68593	2.085	0.80722	D	1	D;P	0.89917	1.0;0.857	D;B	0.83275	0.996;0.173	T	0.50355	-0.8838	10	0.59425	D	0.04	.	19.6264	0.95679	0.0:1.0:0.0:0.0	.	2285;2285	P78509-2;P78509	.;RELN_HUMAN	H	2285	ENSP00000392423:R2285H;ENSP00000345694:R2285H;ENSP00000388446:R2285H	ENSP00000345694:R2285H	R	-	2	0	RELN	102967956	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	4.462000	0.60121	2.717000	0.92951	0.655000	0.94253	CGT		TCGA-FB-AAQ1-01A-12D-A40W-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1	94	346	0	73	0	2.047787e-01	0	4	0	73	2		0	0	0	0	0	2	1	1.000000	90	342	0	70	2								-20.000000	1	1	121412	1	40	1	1	2	3	2.346895	1	0.390000	1.750000	0.442209	0.990000	9.900000e-01	1.000000	1.000000	0.999182	0.990000	1	0.990000	1.000000
RBM28	55131	broad.mit.edu	37	7	127975996	127975996	+	Silent	SNP	A	A	G			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:127975996A>G	ENST00000223073.2	-	7	828	c.714T>C	c.(712-714)gaT>gaC	p.D238D	RBM28_ENST00000415472.2_Silent_p.D97D	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28			21					catcatcatcatcgtcatcat	0.398000																								0							SO:0001819	synonymous_variant			ENST00000223073.2	1	1	hg19	CCDS5801.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	1	0	1	69	241	0	57	1	9.306191e-01	8	10	0	57	2		0	0	0	0	0	2	1	1.000000	65	240	0	57	2								-3.037456	1	1	0	0		1	1	2	3	2.346895	1	0.390000	1.750000	0.442209	0.990000	9.900000e-01	1.000000	1.000000	0.999244	0.990000	1	0.990000	1.000000
NRF1	4899	broad.mit.edu	37	7	129349051	129349051	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:129349051G>A	ENST00000393232.1	+	6	860	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	p.R248L(1)		24					AGTGATGTCCGCACAGAAGAG	0.493000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000393232.1	0	1	hg19	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	35	5.582880	0.96578	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.85	5.85	0.93711	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94125	0.7383	9	.	.	.	-9.5325	19.1648	0.93551	0.0:0.0:1.0:0.0	.	248;248	Q96AN2;Q16656	.;NRF1_HUMAN	H	248;248;87;248;248;248;248	ENSP00000376924:R248H;ENSP00000440455:R87H;ENSP00000223190:R248H;ENSP00000309826:R248H;ENSP00000376922:R248H;ENSP00000376923:R248H	.	R	+	2	0	NRF1	129136287	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.499000	0.97975	2.772000	0.95346	0.655000	0.94253	CGC		TCGA-FB-AAQ1-01A-12D-A40W-08	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	0	0	0	9	750	0	105	0	1.968350e-02	0	16	0	105	2		0	0	0	0	0	2	1	0.993619	8	734	0	104	2								-1.827695	0	1	0	0		1	1	2	3	2.346895	1	0.390000	1.750000	0.442209	0.070000	2.000000e-02	1.000000	0.070000	0.297890	0.070000	0	0.040000	1.000000
EBF2	64641	broad.mit.edu	37	8	25890660	25890660	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:25890660G>A	ENST00000520164.1	-	6	1029	c.492C>T	c.(490-492)tgC>tgT	p.C164C	EBF2_ENST00000408929.3_Silent_p.C16C	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2			39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)			TTTTCTTTTCGCAGCATCGAC	0.393000													Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											0							SO:0001819	synonymous_variant			ENST00000520164.1	1	1	hg19	CCDS43726.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	1	0	0	77	317	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1.000000	75	311	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.142374	0	0.390000	1.750000	0.397054	0.990000	8.100000e-01	1.000000	1.000000	0.968836	0.990000	1	0.910000	1.000000
INTS9	55756	broad.mit.edu	37	8	28669965	28669965	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:28669965G>A	ENST00000521022.1	-	8	704	c.623C>T	c.(622-624)gCg>gTg	p.A208V	INTS9_ENST00000397363.4_Missense_Mutation_p.A102V|INTS9_ENST00000416984.2_Missense_Mutation_p.A187V|INTS9_ENST00000521777.1_Missense_Mutation_p.A184V	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9			19		Ovarian(32;0.0439)			CACCTGGACCGCACCAAAAAG	0.463000																								0							SO:0001583	missense			ENST00000521022.1	0	1	hg19	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978086	0.74360	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363	T;T;T;T	0.46063	0.9;0.88;0.9;0.91	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	L	0.52266	1.64	0.80722	D	1	B;B;B	0.22541	0.071;0.005;0.003	B;B;B	0.14578	0.011;0.005;0.006	T	0.11767	-1.0574	10	0.35671	T	0.21	-19.2771	20.2738	0.98482	0.0:0.0:1.0:0.0	.	187;208;208	B7Z6M5;G3XAN1;Q9NV88	.;.;INT9_HUMAN	V	208;187;52;184;102	ENSP00000429065:A208V;ENSP00000398208:A187V;ENSP00000430943:A184V;ENSP00000380520:A102V	ENSP00000380520:A102V	A	-	2	0	INTS9	28725884	1.000000	0.71417	0.973000	0.42090	0.795000	0.44927	7.883000	0.87264	2.894000	0.99253	0.655000	0.94253	GCG		TCGA-FB-AAQ1-01A-12D-A40W-08	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	0	0	0	5	219	0	27	0	1.476449e-01	0	25	0	27	2		0	0	0	0	0	2	1	0.937507	5	218	0	27	2								-3.192940	1	1	121408	4	34	1	1	2	3	2.142374	0	0.390000	1.750000	0.397054	0.120000	4.000000e-02	1.000000	0.120000	0.177349	0.120000	0	0.070000	0.200000
WRN	7486	broad.mit.edu	37	8	31004955	31004955	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:31004955G>A	ENST00000298139.5	+	30	3784	c.3535G>A	c.(3535-3537)Gca>Aca	p.A1179T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like			60		Breast(100;0.195)			AGCTATTCTGGCAACAAACAA	0.338000			Mis, N, F, S			osteosarcoma, meningioma, others		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		L, E, M, O	0							SO:0001583	missense	Familial Cancer Database	WS, Adult Progeria	ENST00000298139.5	0	1	hg19	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767242	0.90020	.	.	ENSG00000165392	ENST00000298139	T	0.51574	0.7	4.97	4.97	0.65823	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	M	0.77820	2.39	0.50039	D	0.999849	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74697	-0.3578	10	0.66056	D	0.02	-18.4415	18.1847	0.89789	0.0:0.0:1.0:0.0	.	589;1179	Q59F09;Q14191	.;WRN_HUMAN	T	1179	ENSP00000298139:A1179T	ENSP00000298139:A1179T	A	+	1	0	WRN	31124497	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.519000	0.81809	2.459000	0.83118	0.655000	0.94253	GCA		TCGA-FB-AAQ1-01A-12D-A40W-08	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1	0	0	0	5	356	1	75	0	5.049849e-03	0	19	1	75	3		0	0	0	0	0	2	0	0.011643	6	353	1	75	16								-2.588732	1	1	0	0		1	1	2	3	2.142374	0	0.390000	1.750000	0.397054	0.070000	2.000000e-02	1.000000	0.070000	0.128349	0.070000	0	0.040000	0.130000
KCNB2	9312	broad.mit.edu	37	8	73848256	73848256	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:73848256C>T	ENST00000523207.1	+	3	1254	c.666C>T	c.(664-666)gaC>gaT	p.D222D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2			85	Breast(64;0.137)		Epithelial(68;0.105)	Dalfampridine(DB06637)	AGGAAACGGACGAATTTGGAC	0.473000																								0							SO:0001819	synonymous_variant			ENST00000523207.1	1	1	hg19	CCDS6209.1																																																																																				TCGA-FB-AAQ1-01A-12D-A40W-08	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	1	97	355	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1.000000	94	349	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.142374	0	0.390000	1.750000	0.397054	0.990000	9.200000e-01	1.000000	1.000000	0.994715	0.990000	1	0.990000	1.000000
TOR2A	27433	broad.mit.edu	37	9	130496760	130496760	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr9:130496760G>A	ENST00000373284.5	-	2	281	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	TOR2A_ENST00000373281.5_Missense_Mutation_p.R79W|TOR2A_ENST00000336067.6_Missense_Mutation_p.R79W|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_Intron	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A			3					GCTGGGTCCCGCACAAAGGCC	0.662000											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000373284.5	0	1	hg19	CCDS43879.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172678	0.38413	.	.	ENSG00000160404	ENST00000336067;ENST00000373284;ENST00000373281	T;T;T	0.44482	0.92;0.92;0.92	5.23	-2.19	0.07015	.	0.571731	0.18845	N	0.129561	T	0.33614	0.0869	L	0.29908	0.895	0.09310	N	0.999998	B;D;D	0.71674	0.001;0.998;0.983	B;P;P	0.54174	0.0;0.744;0.545	T	0.20739	-1.0266	10	0.62326	D	0.03	-4.2007	3.9649	0.09426	0.0755:0.3385:0.3078:0.2782	.	79;79;79	Q5JU69-2;Q8N2E6;Q5JU69	.;TOR2X_HUMAN;TOR2A_HUMAN	W	79	ENSP00000338317:R79W;ENSP00000362381:R79W;ENSP00000362378:R79W	ENSP00000338317:R79W	R	-	1	2	TOR2A	129536581	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-0.227000	0.09126	-0.084000	0.12595	-0.448000	0.05591	CGG		TCGA-FB-AAQ1-01A-12D-A40W-08	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054205.1	0	0	0	4	106	0	18	0	1.499329e-01	0	15	0	18	2		0	0	0	0	0	2	1	0.882815	4	102	0	17	2								-6.690661	1	1	121098	7	37	1	0	1	1	1.749242	1	0.390000	1.750000	0.249508	0.160000	5.000000e-02	0.350000	0.150000	0.181039	0.160000	0	0.090000	0.250000
ODF2	4957	broad.mit.edu	37	9	131256879	131256879	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr9:131256879G>T	ENST00000434106.3	+	17	2206	c.1843G>T	c.(1843-1845)Gac>Tac	p.D615Y	ODF2_ENST00000351030.3_Missense_Mutation_p.D610Y|ODF2_ENST00000546203.1_Missense_Mutation_p.D596Y|ODF2_ENST00000444119.2_Missense_Mutation_p.D591Y|ODF2_ENST00000393527.3_Missense_Mutation_p.D591Y|ODF2_ENST00000604420.1_Missense_Mutation_p.D615Y|ODF2_ENST00000448249.3_Missense_Mutation_p.D534Y|ODF2_ENST00000372791.3_Missense_Mutation_p.D596Y|ODF2_ENST00000372807.5_Missense_Mutation_p.D610Y|ODF2_ENST00000393533.2_Missense_Mutation_p.D615Y|ODF2_ENST00000372814.3_Missense_Mutation_p.D659Y	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2			37					TGAGTGCCAAGACCAACTGCA	0.582000																								0							SO:0001583	missense			ENST00000434106.3	1	1	hg19	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315892	0.60524	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;T;T;T;D;T;T	0.84070	1.27;-1.8;-0.05;-0.05;-0.05;-1.8;1.29;1.3	5.4	3.55	0.40652	.	0.293958	0.38326	N	0.001723	D	0.84361	0.5455	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.998;0.997;0.998;0.998;0.998;0.998;0.998	P;D;P;D;P;D;D	0.68192	0.904;0.916;0.904;0.956;0.904;0.953;0.916	D	0.83375	0.0009	10	0.72032	D	0.01	-20.1786	8.5962	0.33716	0.0774:0.2919:0.6307:0.0	.	596;610;534;615;596;615;591	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;ODFP2_HUMAN;.	Y	615;659;610;615;591;534;596;596	ENSP00000377166:D615Y;ENSP00000361901:D659Y;ENSP00000342581:D610Y;ENSP00000361882:D615Y;ENSP00000307781:D591Y;ENSP00000396687:D534Y;ENSP00000437579:D596Y;ENSP00000361877:D596Y	ENSP00000307781:D591Y	D	+	1	0	ODF2	130296700	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.221000	0.51215	0.643000	0.30638	-0.305000	0.09177	GAC		TCGA-FB-AAQ1-01A-12D-A40W-08	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3	1	0	1	57	175	0	46	1	9.997177e-01	14	27	0	46	2		0	0	0	0	0	2	1	1.000000	56	173	0	46	2								-20.000000	1	1	0	0		1	0	1	1	1.749242	1	0.390000	1.750000	0.249508	0.950000	7.700000e-01	1.000000	1.000000	0.938029	0.950000	1	0.860000	1.000000
