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
CDC73	79577	broad.mit.edu	37	1	193172923	193172949	+	Splice_Site	DEL	AGGAGGGTGCATCTGCCCGGAAGACTC	AGGAGGGTGCATCTGCCCGGAAGACTC	-	rs149875598		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:193172923_193172949delAGGAGGGTGCATCTGCCCGGAAGACTC	ENST00000367435.3	+	11	1156_1181	c.972_997delAGGAGGGTGCATCTGCCCGGAAGACTC	c.(970-999)acaggagggtgcatctgcccggaagactca>acca	p.GGCICPEDS325del		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	p.R330L(1)|p.R330R(1)		87					ATTCTTTTAAAGGAGGGTGCATCTGCCCGGAAGACTCAGACTCCTGC	0.352000																								2	Substitution - Missense(1)|Substitution - coding silent(1)						SO:0001630	splice_region_variant			ENST00000367435.3	1	1	hg19	CCDS1382.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	0	0	0	9	270	0	117	0	7.433416e-01	0	80	0	117	2	0	0	0	0	0	0		1	9.768436e-02	31	281	3	119	18	0	0	0	0	0	0		-3.142408	1	1	0	0		1	1	2	3	2.507409	1	0.380000	1.810000	0.478992	0.200000	0.090000	0.360000	0.210000	0.222017	0.200000	0	0.140000	0.290000
CDC20B	166979	broad.mit.edu	37	5	54423083	54423083	+	Splice_Site	DEL	A	A	-			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:54423083delA	ENST00000381375.2	-	8	1135		c.e8+1		CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000334206.5_Splice_Site|CDC20B_ENST00000322374.6_Splice_Site			Q86Y33	CD20B_HUMAN	cell division cycle 20B			19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)		GACGCTTCTTACCTGCTGAGG	0.383000																								0							SO:0001630	splice_region_variant			ENST00000381375.2	1	1	hg19	CCDS54852.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	0	0	0	123	708	0	255			0	0	0	255		0	0	0	0	0	0		1	1	123	687	0	253	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.098585	0	0.380000	1.810000	0.384676	0.780000	0.650000	1.000000	0.780000	0.793991	0.780000	0	0.710000	0.860000
FRMD4A	55691	broad.mit.edu	37	10	13696478	13696478	+	Silent	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr10:13696478C>T	ENST00000357447.2	-	23	3356	c.2988G>A	c.(2986-2988)ccG>ccA	p.P996P	FRMD4A_ENST00000378503.1_Silent_p.P996P|FRMD4A_ENST00000358621.4_Silent_p.P981P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A			41					TTTCACTTGACGGTGTCGAGC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000357447.2	1	1	hg19	CCDS7101.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	0	0	0	7	226	1	80	0	1.286869e-01	0	18	1	80	2		0	0	0	0	0	2	0	2.187635e-01	7	221	1	80	11		0	0	0	1	80	2	-3.017760	1	1	121412	15	43	1	1	2	3	2.123923	0	0.380000	1.810000	0.388138	0.170000	0.070000	1.000000	0.160000	0.226029	0.170000	0	0.110000	0.260000
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	rs138398778		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:108117798C>T	ENST00000452508.2	+	9	1198	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000278616.4_Missense_Mutation_p.R337C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Caffeine(DB00201)	TTCAGGATTTCGTAATATTGC	0.323000			D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	6	Substitution - Missense(5)|Deletion - In frame(1)						SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	ENST00000452508.2	1	1	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568847	0.86439	0.0	1.16E-4	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02369	4.32;4.62;4.62	5.72	5.72	0.89469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00022	-1.2342	10	0.87932	D	0	.	19.8868	0.96915	0.0:1.0:0.0:0.0	.	337	Q13315	ATM_HUMAN	C	337	ENSP00000435747:R337C;ENSP00000278616:R337C;ENSP00000388058:R337C	ENSP00000278616:R337C	R	+	1	0	ATM	107623008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.213000	0.58520	2.709000	0.92574	0.655000	0.94253	CGT		TCGA-3E-AAAZ-01A-11D-A38G-08	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1	58	279	0	97	0	3.507537e-01	0	7	0	97	2	1	1	30	175	0	203	2	1	1	57	272	0	96	2		0	0	0	0	97	2	-3.270775	1	1	121406	11	42	1	0	0	0	2.055980	0	0.380000	1.810000	0.375252	0.890000	0.690000	1.000000	1.000000	0.892887	0.890000	1	0.790000	1.000000
IGSF22	283284	broad.mit.edu	37	11	18738405	18738405	+	Missense_Mutation	SNP	C	C	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:18738405C>A	ENST00000513874.1	-	10	1255	c.1116G>T	c.(1114-1116)aaG>aaT	p.K372N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22			56					TGATTTCATACTTGTCATCCC	0.527000																								0							SO:0001583	missense			ENST00000513874.1	1	1	hg19	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783844	0.70222	.	.	ENSG00000179057	ENST00000513874	T	0.44083	0.93	4.94	-0.225	0.13111	.	0.000000	0.37857	U	0.001902	T	0.39091	0.1065	M	0.73319	2.225	0.27060	N	0.96358	P	0.40578	0.722	B	0.39738	0.308	T	0.34650	-0.9820	10	0.45353	T	0.12	.	9.8716	0.41177	0.0:0.6398:0.0:0.3602	.	372	D6RGV7	.	N	372	ENSP00000421191:K372N	ENSP00000322422:K372N	K	-	3	2	IGSF22	18694981	0.334000	0.24739	0.728000	0.30774	0.997000	0.91878	-0.495000	0.06443	0.050000	0.15949	0.655000	0.94253	AAG		TCGA-3E-AAAZ-01A-11D-A38G-08	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	1	0	1	148	579	0	242		0	0	0	0	242	2		0	0	0	0	0	2	1	1	147	571	0	238	2		0	0	0	0	242	2	-20.000000	1	1	0	0		1	0	0	0	2.063146	0	0.380000	1.810000	0.377635	0.990000	0.910000	1.000000	1.000000	0.992214	0.990000	1	0.980000	1.000000
OR5M3	219482	broad.mit.edu	37	11	56237502	56237502	+	Missense_Mutation	SNP	T	T	C	rs148100298	by1000genomes	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:56237502T>C	ENST00000312240.2	-	1	512	c.472A>G	c.(472-474)Aca>Gca	p.T158A		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	p.T158A(1)|p.T158P(1)		37	Esophageal squamous(21;0.00448)				GTCCATAATGTTGCTGCCAGA	0.428000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000312240.2	1	1	hg19	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870782	0.33069	.	.	ENSG00000174937	ENST00000312240	T	0.00256	8.42	5.22	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000173	T	0.00412	0.0013	L	0.60904	1.88	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51411	-0.8709	10	0.48119	T	0.1	-6.2895	10.3656	0.44021	0.1471:0.0:0.0:0.8529	.	158	Q8NGP4	OR5M3_HUMAN	A	158	ENSP00000312208:T158A	ENSP00000312208:T158A	T	-	1	0	OR5M3	55994078	0.000000	0.05858	0.015000	0.15790	0.560000	0.35617	0.095000	0.15127	0.796000	0.33947	0.448000	0.29417	ACA		TCGA-3E-AAAZ-01A-11D-A38G-08	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	1	0	1	134	541	0	226		0	0	0	0	226	2		0	0	0	0	0	2	1	1	133	522	0	222	2		0	0	0	0	226	2	-2.941315	1	1	0	0		1	0	0	0	2.063146	0	0.380000	1.810000	0.377635	0.990000	0.880000	1.000000	1.000000	0.985164	0.990000	1	0.950000	1.000000
PRKRIR	5612	broad.mit.edu	37	11	76063580	76063580	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:76063580A>G	ENST00000260045.3	-	5	719	c.614T>C	c.(613-615)cTg>cCg	p.L205P	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)			25					CCGACACTCCAGCAGTGCCTG	0.438000																								0							SO:0001583	missense			ENST00000260045.3	1	1	hg19	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615922	0.66672	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.75	4.75	0.60458	.	0.061993	0.64402	D	0.000003	T	0.77452	0.4132	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.80759	-0.1239	9	0.87932	D	0	.	14.5953	0.68400	1.0:0.0:0.0:0.0	.	205	O43422	P52K_HUMAN	P	30;205	.	ENSP00000260045:L205P	L	-	2	0	PRKRIR	75741228	1.000000	0.71417	0.993000	0.49108	0.908000	0.53690	8.562000	0.90719	1.925000	0.55765	0.397000	0.26171	CTG		TCGA-3E-AAAZ-01A-11D-A38G-08	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	1	0	1	68	264	0	123	1	9.993306e-01	14	31	0	123	2		0	0	0	0	0	2	1	1	67	253	0	127	2		0	0	0	0	123	2	-20.000000	1	1	0	0		1	0	0	0	2.055980	0	0.380000	1.810000	0.375252	0.990000	0.850000	1.000000	1.000000	0.982455	0.990000	1	0.950000	1.000000
ANAPC7	51434	broad.mit.edu	37	12	110815272	110815272	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:110815272T>C	ENST00000455511.3	-	9	1385	c.1385A>G	c.(1384-1386)aAa>aGa	p.K462R	ANAPC7_ENST00000481473.1_5'UTR|ANAPC7_ENST00000450008.2_Missense_Mutation_p.K462R	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7			19					TAATAATGTTTTGGCTTTCTC	0.423000																								0							SO:0001583	missense			ENST00000455511.3	1	1	hg19	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634913	0.87760	.	.	ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008;ENST00000471602	T;T	0.78126	-1.15;0.67	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80752	0.4683	L	0.37800	1.135	0.58432	D	0.999998	D;P	0.56035	0.974;0.671	D;B	0.70487	0.969;0.202	T	0.75121	-0.3429	10	0.07482	T	0.82	-10.9948	16.1303	0.81428	0.0:0.0:0.0:1.0	.	462;462	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	R	462;36;60;462;155	ENSP00000394394:K462R;ENSP00000402314:K462R	ENSP00000402314:K462R	K	-	2	0	ANAPC7	109299655	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.698000	0.84413	2.218000	0.71995	0.533000	0.62120	AAA		TCGA-3E-AAAZ-01A-11D-A38G-08	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	1	0	1	156	576	0	240	1	1	49	106	0	240	2		0	0	0	0	0	2	1	1	154	568	0	239	2		0	0	0	0	240	2	-20.000000	1	1	0	0		1	0	0	0	2.011306	0	0.380000	1.810000	0.360561	0.990000	0.930000	1.000000	1.000000	0.995523	0.990000	1	0.990000	1.000000
LHX5	64211	broad.mit.edu	37	12	113906184	113906184	+	Missense_Mutation	SNP	C	C	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:113906184C>G	ENST00000261731.3	-	3	996	c.423G>C	c.(421-423)ttG>ttC	p.L141F		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5			10					GGTCCGGGGACAAACTGCGGT	0.642000																								0							SO:0001583	missense			ENST00000261731.3	1	1	hg19	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838936	0.51057	.	.	ENSG00000089116	ENST00000261731	D	0.91945	-2.94	4.85	2.98	0.34508	.	0.000000	0.43747	D	0.000537	D	0.89451	0.6719	L	0.59436	1.845	0.51767	D	0.999931	P	0.40332	0.713	B	0.44044	0.439	D	0.85201	0.1015	10	0.16896	T	0.51	.	9.9534	0.41653	0.0:0.7986:0.0:0.2014	.	141	Q9H2C1	LHX5_HUMAN	F	141	ENSP00000261731:L141F	ENSP00000261731:L141F	L	-	3	2	LHX5	112390567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.206000	0.32321	2.213000	0.71641	0.491000	0.48974	TTG		TCGA-3E-AAAZ-01A-11D-A38G-08	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	1	0	1	22	79	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	9.999993e-01	22	76	0	44	2		0	0	0	0	44	2	-20.000000	1	1	0	0		1	0	0	0	2.011306	0	0.380000	1.810000	0.360561	0.990000	0.740000	1.000000	1.000000	0.966564	0.990000	1	0.910000	1.000000
MLEC	9761	broad.mit.edu	37	12	121134267	121134267	+	Silent	SNP	G	G	A	rs144716658		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:121134267G>A	ENST00000228506.3	+	5	1226	c.798G>A	c.(796-798)tcG>tcA	p.S266S	MLEC_ENST00000535413.1_3'UTR|RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Missense_Mutation_p.R188Q|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin			16					CCTATGCCTCGGACAACAGCA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000228506.3	0	1	hg19	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572146	0.28092	2.27E-4	0.0	ENSG00000110917	ENST00000412616	.	.	.	5.43	-2.37	0.06643	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.22156	N	0.999323	.	.	.	.	.	.	T	0.31668	-0.9935	5	0.45353	T	0.12	.	1.5104	0.02494	0.3009:0.0872:0.3554:0.2565	.	.	.	.	Q	188	.	ENSP00000440746:R188Q	R	+	2	0	MLEC	119618650	0.974000	0.33945	0.996000	0.52242	0.982000	0.71751	0.103000	0.15292	-0.107000	0.12088	-1.008000	0.02478	CGG		TCGA-3E-AAAZ-01A-11D-A38G-08	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	0	0	0	10	773	0	266	1	8.067091e-01	5	232	0	266	2		0	0	0	0	0	2	1	9.964880e-01	10	755	0	265	2		0	0	0	0	266	2	-1.807407	0	1	121412	2	40	1	0	0	0	2.011306	0	0.380000	1.810000	0.360561	0.060000	0.020000	0.120000	0.070000	0.071332	0.060000	0	0.040000	0.090000
DNAH10	196385	broad.mit.edu	37	12	124326011	124326011	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:124326011C>T	ENST00000409039.3	+	29	4950	c.4925C>T	c.(4924-4926)aCg>aTg	p.T1642M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GACTGGATGACGGCAGTTTTG	0.463000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671082	0.47781	0.0	3.61E-4	ENSG00000197653	ENST00000409039	T	0.61510	0.1	5.23	5.23	0.72850	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	U	0.000001	T	0.77644	0.4161	M	0.81942	2.565	0.58432	D	0.999995	D	0.89917	1.0	D	0.75484	0.986	T	0.77550	-0.2546	10	0.39692	T	0.17	.	18.7853	0.91952	0.0:1.0:0.0:0.0	.	1642	Q8IVF4	DYH10_HUMAN	M	1642	ENSP00000386770:T1642M	ENSP00000386770:T1642M	T	+	2	0	DNAH10	122891964	1.000000	0.71417	0.945000	0.38365	0.206000	0.24218	4.564000	0.60830	2.457000	0.83068	0.561000	0.74099	ACG		TCGA-3E-AAAZ-01A-11D-A38G-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	75	346	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	1	72	337	0	138	2		0	0	0	0	138	2	-20.000000	1	1	120916	17	46	1	0	0	0	2.011306	0	0.380000	1.810000	0.360561	0.900000	0.720000	1.000000	1.000000	0.903182	0.900000	1	0.810000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	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	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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-3E-AAAZ-01A-11D-A38G-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	52	306	0	97	1	8.929242e-01	7	18	0	97	2	1	1	38	274	0	369	2	1	1	51	297	0	97	2	1	1	2010	6000	0	97	2	-19.999950	1	1	0	0		1	0	0	0	2.011306	0	0.380000	1.810000	0.360561	0.730000	0.560000	0.930000	0.740000	0.747354	0.730000	0	0.640000	0.840000
SLC16A7	9194	broad.mit.edu	37	12	60173406	60173406	+	Silent	SNP	C	C	T	rs3763979	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:60173406C>T	ENST00000261187.4	+	5	1547	c.1383C>T	c.(1381-1383)aaC>aaT	p.N461N	SLC16A7_ENST00000547379.1_Silent_p.N461N|SLC16A7_ENST00000552432.1_Silent_p.N461N|SLC16A7_ENST00000543448.1_Silent_p.N362N|SLC16A7_ENST00000552024.1_Silent_p.N461N	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7			30				Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	AAGATGTTAACGTCAAAGTTT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000261187.4	1	0	hg19	CCDS8961.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	0	0	1	30	156	0	68	0	5.018894e-01	0	10	0	68	2		0	0	0	0	0	2	1	1	29	155	0	67	2		0	0	0	0	68	2	-1.741521	0	1	121356	10588	70	1	0	0	0	2.011306	0	0.380000	1.810000	0.360561	0.820000	0.570000	1.000000	1.000000	0.824857	0.820000	0	0.690000	0.960000
AVPR1A	552	broad.mit.edu	37	12	63543857	63543857	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:63543857G>A	ENST00000299178.2	-	1	865	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	p.R254C(1)		26			BRCA - Breast invasive adenocarcinoma(9;0.193)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TTGCTCTGGCGCGACGCCGTC	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000299178.2	1	1	hg19	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921813	0.33908	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.73469	-0.75;-0.75	5.29	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001512	T	0.59115	0.2170	L	0.39514	1.22	0.21220	N	0.999759	B	0.19817	0.039	B	0.21546	0.035	T	0.40270	-0.9572	9	.	.	.	-13.3074	5.8336	0.18594	0.1974:0.3561:0.4465:0.0	.	254	P37288	V1AR_HUMAN	C	35;254	ENSP00000449822:R35C;ENSP00000299178:R254C	.	R	-	1	0	AVPR1A	61830124	0.001000	0.12720	0.135000	0.22099	0.903000	0.53119	0.341000	0.19909	1.224000	0.43551	0.455000	0.32223	CGC		TCGA-3E-AAAZ-01A-11D-A38G-08	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1	1	0	1	140	557	0	221	0	1.060643e-01	0	3	0	221	2		0	0	0	0	0	2	1	1	140	550	0	220	2		0	0	0	0	221	2	-20.000000	1	1	0	0		1	0	0	0	2.011306	0	0.380000	1.810000	0.360561	0.990000	0.870000	1.000000	1.000000	0.980840	0.990000	1	0.940000	1.000000
MYO16	23026	broad.mit.edu	37	13	109777647	109777647	+	Silent	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr13:109777647C>T	ENST00000357550.2	+	29	3698	c.3657C>T	c.(3655-3657)aaC>aaT	p.N1219N	MYO16_ENST00000356711.2_Silent_p.N1219N|MYO16_ENST00000457511.2_Silent_p.N731N	NM_001198950.1	NP_001185879.1			myosin XVI			121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		GTGAAATGAACGCTCCCTACC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000357550.2	1	1	hg19	CCDS32008.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	1	0	0	32	179	0	66	0	0	0	1	0	66	2		0	0	0	0	0	2	1	1	32	178	0	66	2		0	0	0	0	66	2	-20.000000	1	1	121412	3	35	1	0	0	0	2.029422	0	0.380000	1.810000	0.365534	0.770000	0.550000	1.000000	1.000000	0.786874	0.770000	0	0.650000	0.910000
BAHD1	22893	broad.mit.edu	37	15	40756141	40756141	+	Missense_Mutation	SNP	C	C	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr15:40756141C>G	ENST00000416165.1	+	4	1968	c.1897C>G	c.(1897-1899)Ctt>Gtt	p.L633V	BAHD1_ENST00000561234.1_Missense_Mutation_p.L632V|BAHD1_ENST00000560846.1_Missense_Mutation_p.L633V|RP11-64K12.8_ENST00000559730.1_RNA	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1			28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)			GGACACCGTCCTTCTCAAATC	0.592000																								0							SO:0001583	missense			ENST00000416165.1	1	1	hg19	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871132	0.91587	.	.	ENSG00000140320	ENST00000416165	D	0.86865	-2.18	5.28	5.28	0.74379	Bromo adjacent homology (BAH) domain (3);	0.068049	0.64402	D	0.000012	D	0.92018	0.7471	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.959;0.998;0.997	D	0.90870	0.4745	10	0.41790	T	0.15	-24.8954	19.0957	0.93249	0.0:1.0:0.0:0.0	.	633;633;632	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	V	633	ENSP00000396976:L633V	ENSP00000396976:L633V	L	+	1	0	BAHD1	38543433	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.606000	0.67641	2.755000	0.94549	0.655000	0.94253	CTT		TCGA-3E-AAAZ-01A-11D-A38G-08	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	1	0	1	43	129	0	63	1	9.999708e-01	16	36	0	63	2		0	0	0	0	0	2	1	1	42	125	0	60	2		0	0	0	0	63	2	-20.000000	1	1	0	0		1	0	1	1	1.771745	1	0.380000	1.810000	0.276968	0.990000	0.830000	1.000000	1.000000	0.981676	0.990000	1	0.950000	1.000000
LINGO1	84894	broad.mit.edu	37	15	77906745	77906745	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr15:77906745C>T	ENST00000355300.6	-	2	1678	c.1504G>A	c.(1504-1506)Gcg>Acg	p.A502T	LINGO1_ENST00000561030.1_Missense_Mutation_p.A496T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1			31					TTGCCGCCCGCGTTGGCCGCG	0.637000																								0							SO:0001583	missense			ENST00000355300.6	1	1	hg19	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222208	0.79464	.	.	ENSG00000169783	ENST00000355300	T	0.67171	-0.25	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	L	0.55743	1.74	0.80722	D	1	D	0.63046	0.992	P	0.57679	0.825	T	0.70303	-0.4909	10	0.22706	T	0.39	.	18.482	0.90815	0.0:1.0:0.0:0.0	.	502	Q96FE5	LIGO1_HUMAN	T	502	ENSP00000347451:A502T	ENSP00000347451:A502T	A	-	1	0	LINGO1	75693800	1.000000	0.71417	0.996000	0.52242	0.770000	0.43624	7.818000	0.86416	2.359000	0.80004	0.462000	0.41574	GCG		TCGA-3E-AAAZ-01A-11D-A38G-08	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	1	0	0	12	122	0	59	0	2.843508e-01	1	10	0	59	2		0	0	0	0	0	2	1	9.991887e-01	12	120	0	59	2		0	0	0	0	59	2	-18.262660	1	1	121040	1	20	1	0	1	1	1.771745	1	0.380000	1.810000	0.276968	0.400000	0.220000	0.640000	0.400000	0.423058	0.400000	0	0.300000	0.530000
HS3ST6	64711	broad.mit.edu	37	16	1962193	1962193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:1962193G>A	ENST00000293937.3	-	2	426	c.427C>T	c.(427-429)Cga>Tga	p.R143*	HS3ST6_ENST00000454677.2_Nonsense_Mutation_p.R160*|HS3ST6_ENST00000443547.1_Nonsense_Mutation_p.R112*			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6			4					TCCAGGGTTCGGGGCATCAGA	0.692000																								0							SO:0001587	stop_gained			ENST00000293937.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.70	2.316851	0.40996	2.28E-4	0.0	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2723	0.54712	0.0:0.0:0.8304:0.1696	.	.	.	.	X	143;112;182	.	ENSP00000293937:R143X	R	-	1	2	HS3ST6	1902194	0.990000	0.36364	0.651000	0.29564	0.066000	0.16364	2.443000	0.44881	2.287000	0.76781	0.555000	0.69702	CGA		TCGA-3E-AAAZ-01A-11D-A38G-08	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	16	57	0	27	0	0	1	0	0	27	2		0	0	0	0	0	2	1	9.999592e-01	16	55	0	27	2		0	0	0	0	27	2	-20.000000	1	1	112292	3	24	1	0	0	0	2.064610	0	0.380000	1.810000	0.377635	0.990000	0.710000	1.000000	1.000000	0.965184	0.990000	1	0.910000	1.000000
DNAH3	55567	broad.mit.edu	37	16	21049118	21049118	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:21049118C>T	ENST00000261383.3	-	34	4914	c.4915G>A	c.(4915-4917)Gcc>Acc	p.A1639T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1639T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3			202					AAGAACTTGGCCAGATTGACA	0.498000																								0							SO:0001583	missense			ENST00000261383.3	0	1	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773845	0.69992	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.39592	1.07;1.07	5.6	5.6	0.85130	.	0.127782	0.51477	D	0.000088	T	0.69566	0.3125	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.75795	-0.3192	10	0.87932	D	0	.	19.6229	0.95667	0.0:1.0:0.0:0.0	.	1639	Q8TD57	DYH3_HUMAN	T	1639	ENSP00000261383:A1639T;ENSP00000394245:A1639T	ENSP00000261383:A1639T	A	-	1	0	DNAH3	20956619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.920000	0.56446	2.648000	0.89879	0.561000	0.74099	GCC		TCGA-3E-AAAZ-01A-11D-A38G-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	0	0	0	4	169	1	62		0	0	0	1	62	2		0	0	0	0	0	2	1	8.899516e-01	4	168	0	61	2		0	0	0	1	62	2	-3.362364	1	1	0	0		1	0	0	0	2.064610	0	0.380000	1.810000	0.377635	0.130000	0.040000	0.290000	0.120000	0.148383	0.130000	0	0.070000	0.210000
ZNF688	146542	broad.mit.edu	37	16	30581656	30581656	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:30581656G>A	ENST00000223459.6	-	3	1516	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	ZNF688_ENST00000395219.1_Missense_Mutation_p.R124C|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688			8					TCAGGGTTGCGTTCCACCAGC	0.607000																								0							SO:0001583	missense			ENST00000223459.6	1	1	hg19	CCDS10684.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342937	0.24339	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.04360	3.64;3.85	4.38	2.33	0.28932	.	.	.	.	.	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	P;D	0.53151	0.696;0.958	B;B	0.38296	0.186;0.27	T	0.44498	-0.9324	9	0.51188	T	0.08	.	8.6385	0.33964	0.0939:0.1533:0.7528:0.0	.	138;124	P0C7X2;A8MV39	ZN688_HUMAN;.	C	124;138	ENSP00000378645:R124C;ENSP00000223459:R138C	ENSP00000223459:R138C	R	-	1	0	ZNF688	30489157	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.659000	0.24994	0.191000	0.20236	-1.151000	0.01829	CGC		TCGA-3E-AAAZ-01A-11D-A38G-08	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	1	0	1	67	265	0	101	1	1	21	88	0	101	2		0	0	0	0	0	2	1	1	67	261	0	101	2		0	0	0	0	101	2	-20.000000	1	0	121412	7	39	1	0	0	0	2.064610	0	0.380000	1.810000	0.377635	0.990000	0.840000	1.000000	1.000000	0.979272	0.990000	1	0.940000	1.000000
CPNE2	221184	broad.mit.edu	37	16	57153169	57153169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:57153169G>A	ENST00000535318.2	+	7	931	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CPNE2_ENST00000290776.8_Nonsense_Mutation_p.W190*|CPNE2_ENST00000537605.1_Nonsense_Mutation_p.W88*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.W190*			Q96FN4	CPNE2_HUMAN	copine II			21		all_neural(199;0.224)			ATGGCAAGTGGATGCTGGTCC	0.582000																								0							SO:0001587	stop_gained			ENST00000535318.2	0	1	hg19	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	G	43	10.004895	0.99315	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2675	19.397	0.94611	0.0:0.0:1.0:0.0	.	.	.	.	X	190;88;190	.	ENSP00000290776:W190X	W	+	3	0	CPNE2	55710670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.845000	0.99498	2.594000	0.87642	0.555000	0.69702	TGG		TCGA-3E-AAAZ-01A-11D-A38G-08	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	1	0	1	77	391	0	152	0	9.996848e-01	1	61	0	152	2		0	0	0	0	0	2	1	1	75	380	0	151	2		0	0	0	0	152	2	-20.000000	1	1	0	0		1	0	0	0	2.064610	0	0.380000	1.810000	0.377635	0.850000	0.690000	1.000000	1.000000	0.863851	0.850000	1	0.770000	0.950000
ZNF821	55565	broad.mit.edu	37	16	71894200	71894200	+	Silent	SNP	C	C	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:71894200C>A	ENST00000565601.1	-	7	1367	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ZNF821_ENST00000446827.2_Silent_p.L278L|ZNF821_ENST00000564134.1_3'UTR|ZNF821_ENST00000425432.1_Silent_p.L320L|ZNF821_ENST00000313565.6_Silent_p.L278L|ATXN1L_ENST00000569119.1_Intron	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821			13					GATCCCGCTGCAGCCGGCGTG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000565601.1	0	1	hg19	CCDS56006.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	0	0	0	5	185	0	75	0	3.071684e-01	0	36	0	75	2		0	0	0	0	0	2	1	9.357407e-01	5	182	0	74	2		0	0	0	0	75	2	-7.228993	1	0	0	0		1	1	2	3	2.079998	0	0.380000	1.810000	0.384676	0.150000	0.050000	1.000000	0.140000	0.188390	0.150000	0	0.090000	0.240000
CHMP1A	5119	broad.mit.edu	37	16	89718035	89718035	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:89718035T>C	ENST00000397901.3	-	3	303	c.47A>G	c.(46-48)gAg>gGg	p.E16G	CHMP1A_ENST00000535997.2_5'UTR|CHMP1A_ENST00000550102.1_Missense_Mutation_p.E16G|CHMP1A_ENST00000253475.5_Silent_p.G9G|CHMP1A_ENST00000547614.1_5'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A			3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)			GGCCAGCTTCTCCAGCTGCTT	0.632000																								0							SO:0001583	missense			ENST00000397901.3	0	1	hg19	CCDS45552.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611348	0.66558	.	.	ENSG00000131165	ENST00000397901;ENST00000550102	T;T	0.74106	-0.81;-0.81	4.81	4.81	0.61882	.	.	.	.	.	T	0.70202	0.3197	.	.	.	0.80722	D	1	P	0.38300	0.626	B	0.40782	0.34	T	0.69101	-0.5234	7	.	.	.	-1.7391	14.6528	0.68811	0.0:0.0:0.0:1.0	.	16	Q9HD42	CHM1A_HUMAN	G	16	ENSP00000380998:E16G;ENSP00000449243:E16G	.	E	-	2	0	CHMP1A	88245536	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.600000	0.82769	1.905000	0.55150	0.533000	0.62120	GAG		TCGA-3E-AAAZ-01A-11D-A38G-08	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	0	0	0	5	157	0	55	0	9.970741e-01	0	399	0	55	2		0	0	0	0	0	2	1	9.343588e-01	4	154	0	54	2		0	0	0	0	55	2	-7.528092	1	0	0	0		1	0	1	1	2.068558	0	0.380000	1.810000	0.378820	0.170000	0.060000	0.350000	0.160000	0.190255	0.170000	0	0.110000	0.260000
COASY	80347	broad.mit.edu	37	17	40714982	40714982	+	Silent	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:40714982G>A	ENST00000393818.2	+	1	798	c.342G>A	c.(340-342)gtG>gtA	p.V114V	COASY_ENST00000420359.1_Silent_p.V114V|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000590958.1_Silent_p.V143V|COASY_ENST00000449624.1_De_novo_Start_InFrame|COASY_ENST00000421097.2_Silent_p.V114V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase			21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)			CAGAAGTCGTGTTGACAGATT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000393818.2	1	0	hg19	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491978	0.26774	.	.	ENSG00000068120	ENST00000426807	.	.	.	5.57	-0.966	0.10320	.	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51220	-0.8733	6	0.87932	D	0	-22.1199	1.666	0.02802	0.1574:0.2286:0.3692:0.2448	.	.	.	.	I	90	.	ENSP00000390306:V90I	V	+	1	0	COASY	37968508	0.995000	0.38212	0.998000	0.56505	0.922000	0.55478	0.457000	0.21875	0.008000	0.14787	-0.305000	0.09177	GTT		TCGA-3E-AAAZ-01A-11D-A38G-08	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	1	0	1	91	927	0	293	1	9.998678e-01	12	117	0	293	2		0	0	0	0	0	2	1	1	91	900	0	292	2		0	0	0	0	293	2	-19.997890	1	1	0	0		1	0	1	1	2.074202	0	0.380000	1.810000	0.378820	0.460000	0.370000	0.560000	0.470000	0.473052	0.460000	0	0.420000	0.520000
C17orf53	78995	broad.mit.edu	37	17	42225373	42225373	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:42225373C>T	ENST00000319977.4	+	3	439	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	C17orf53_ENST00000585683.1_Missense_Mutation_p.P68S|C17orf53_ENST00000245382.6_Missense_Mutation_p.P68S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53			22		Breast(137;0.0364)|Prostate(33;0.0376)			CCCCACTGCTCCCTCAGAGGC	0.622000																								0							SO:0001583	missense			ENST00000319977.4	1	1	hg19	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604612	0.28623	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.49139	0.79;0.79	5.28	2.2	0.27929	.	0.378727	0.22038	N	0.065500	T	0.38558	0.1045	L	0.55481	1.735	0.09310	N	1	B;B;B	0.29646	0.084;0.253;0.084	B;B;B	0.29663	0.022;0.105;0.022	T	0.30297	-0.9983	10	0.51188	T	0.08	-0.8579	6.2724	0.20961	0.0:0.6818:0.1524:0.1659	.	68;68;68	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	S	68	ENSP00000313500:P68S;ENSP00000245382:P68S	ENSP00000245382:P68S	P	+	1	0	C17orf53	39580899	0.001000	0.12720	0.001000	0.08648	0.044000	0.14063	0.181000	0.16880	0.362000	0.24319	0.561000	0.74099	CCC		TCGA-3E-AAAZ-01A-11D-A38G-08	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	1	0	1	85	336	0	135	1	1.866122e-01	3	1	0	135	2		0	0	0	0	0	2	1	1	81	326	0	134	2		0	0	0	0	135	2	-3.497239	1	1	0	0		1	0	1	1	2.074202	0	0.380000	1.810000	0.378820	0.990000	0.860000	1.000000	1.000000	0.983862	0.990000	1	0.950000	1.000000
RNF43	54894	broad.mit.edu	37	17	56440904	56440904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:56440904G>A	ENST00000584437.1	-	3	2388	c.433C>T	c.(433-435)Cga>Tga	p.R145*	RNF43_ENST00000407977.2_Nonsense_Mutation_p.R145*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R104*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R104*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R18*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R145*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R18*			Q68DV7	RNF43_HUMAN	ring finger protein 43	p.R145*(1)		60	Medulloblastoma(34;0.127)|all_neural(34;0.237)				GCAGCAGCTCGATCCTCAGTG	0.597000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000584437.1	0	1	hg19	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	44	10.601706	0.99435	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	5.4	4.41	0.53225	.	0.592346	0.16161	N	0.226756	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-19.4207	8.5535	0.33467	0.0:0.1579:0.5559:0.2861	.	.	.	.	X	145;104	.	ENSP00000385328:R145X	R	-	1	2	RNF43	53795903	0.980000	0.34600	0.994000	0.49952	0.991000	0.79684	2.127000	0.42035	1.234000	0.43709	0.591000	0.81541	CGA		TCGA-3E-AAAZ-01A-11D-A38G-08	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	1	138	546	0	235	1	9.976352e-01	16	22	0	235	2	1	1	167	630	0	765	2	1	1	137	526	0	232	2		0	0	0	0	235	2	-3.432944	1	1	0	0		1	1	2	3	2.079788	0	0.380000	1.810000	0.381176	0.990000	0.900000	1.000000	1.000000	0.990858	0.990000	1	0.980000	1.000000
SLC16A13	201232	broad.mit.edu	37	17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:6941599T>C	ENST00000308027.6	+	3	780	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	p.F158L(1)		10					ATTTGCCCCCTTTTTCCAGTG	0.652000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000308027.6	0	1	hg19	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	4.647	0.120233	0.08881	.	.	ENSG00000174327	ENST00000308027	T	0.48522	0.81	5.54	-1.46	0.08800	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.192516	0.46442	N	0.000288	T	0.13713	0.0332	N	0.01202	-0.96	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.38001	-0.9681	10	0.02654	T	1	.	10.4076	0.44274	0.0:0.5248:0.0:0.4752	.	158	Q7RTY0	MOT13_HUMAN	L	158	ENSP00000309751:F158L	ENSP00000309751:F158L	F	+	1	0	SLC16A13	6882323	0.479000	0.25925	0.535000	0.28026	0.981000	0.71138	1.161000	0.31773	-0.053000	0.13289	-0.313000	0.08912	TTT		TCGA-3E-AAAZ-01A-11D-A38G-08	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2	0	0	0	4	280	0	90	0	5.137871e-03	0	6	0	90	2		0	0	0	0	0	2	1	8.876849e-01	4	276	0	83	2		0	0	0	0	90	2	-2.766372	1	1	0	0		1	0	1	1	2.074202	0	0.380000	1.810000	0.378820	0.080000	0.020000	0.180000	0.080000	0.091290	0.080000	0	0.040000	0.130000
SMAD2	4087	broad.mit.edu	37	18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr18:45368211G>C	ENST00000402690.2	-	11	1785	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	p.S464*(4)|p.R462fs*>4(1)		43					TGACATGCTTGAGCAACGCAC	0.423000																								5	Substitution - Nonsense(4)|Deletion - Frameshift(1)						SO:0001587	stop_gained			ENST00000402690.2	0	1	hg19	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	41	8.723736	0.98929	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	464;434;464	.	ENSP00000262160:S464X	S	-	2	0	SMAD2	43622209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.824000	0.97209	0.655000	0.94253	TCA		TCGA-3E-AAAZ-01A-11D-A38G-08	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	1	0	0	45	182	0	105	1	1	43	111	0	105	2		0	0	0	0	0	2	1	1	45	176	0	105	2		0	0	0	0	105	2	-20.000000	1	1	0	0		1	0	1	1	1.716701	1	0.380000	1.810000	0.234568	0.820000	0.620000	0.980000	0.830000	0.824882	0.820000	0	0.720000	0.920000
SMAD4	4089	broad.mit.edu	37	18	48591889	48591889	+	Missense_Mutation	SNP	A	A	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr18:48591889A>C	ENST00000342988.3	+	9	1590	c.1052A>C	c.(1051-1053)gAt>gCt	p.D351A	SMAD4_ENST00000588745.1_Missense_Mutation_p.D255A|SMAD4_ENST00000398417.2_Missense_Mutation_p.D351A	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			GTTACTGTTGATGGATACGTG	0.438000																								38	Whole gene deletion(36)|Unknown(2)						SO:0001583	missense			ENST00000342988.3	1	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.942647	0.92526	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98437	-4.93;-4.93	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.044633	0.85682	D	0.000000	D	0.99239	0.9735	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99069	1.0833	10	0.87932	D	0	.	15.2431	0.73485	1.0:0.0:0.0:0.0	.	351	Q13485	SMAD4_HUMAN	A	351	ENSP00000341551:D351A;ENSP00000381452:D351A	ENSP00000341551:D351A	D	+	2	0	SMAD4	46845887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.237000	0.73441	0.460000	0.39030	GAT		TCGA-3E-AAAZ-01A-11D-A38G-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	80	274	0	166	1	1	44	67	0	166	2	1	1	130	480	0	858	2	1	1	79	271	0	165	2		0	0	0	0	166	2	-20.000000	1	1	0	0		1	0	1	1	1.716701	1	0.380000	1.810000	0.234568	0.910000	0.760000	1.000000	0.950000	0.911478	0.910000	1	0.840000	0.980000
NUDT19	390916	broad.mit.edu	37	19	33183406	33183406	+	Silent	SNP	G	G	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:33183406G>C	ENST00000397061.3	+	1	540	c.540G>C	c.(538-540)cgG>cgC	p.R180R	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19			8	Esophageal squamous(110;0.137)				ACTTCCTGCGGCTGTGCGCCC	0.731000																								0							SO:0001819	synonymous_variant			ENST00000397061.3	1	1	hg19	CCDS42543.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	1	0	0	14	42	0	14	1	8.313841e-01	4	8	0	14	2		0	0	0	0	0	2	1	9.996433e-01	11	37	0	12	2		0	0	0	0	14	2	-20.000000	1	1	0	0		1	0	0	0	1.992977	0	0.380000	1.810000	0.352953	0.990000	0.750000	1.000000	1.000000	0.977213	0.990000	1	0.970000	1.000000
ZNF382	84911	broad.mit.edu	37	19	37118421	37118421	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:37118421C>T	ENST00000292928.2	+	5	1735	c.1622C>T	c.(1621-1623)aCt>aTt	p.T541I	ZNF382_ENST00000439428.1_Missense_Mutation_p.T540I|ZNF382_ENST00000435416.1_Missense_Mutation_p.T540I|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000423582.1_Missense_Mutation_p.T492I	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382			34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		CATCAGAAAACTCACAAGGTA	0.383000																								0							SO:0001583	missense			ENST00000292928.2	1	1	hg19	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.392618	0.01185	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.06687	3.27;3.38;3.39;3.4	4.35	2.24	0.28232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.155759	0.30277	N	0.009982	T	0.02380	0.0073	N	0.02802	-0.49	0.29661	N	0.843215	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40997	-0.9533	10	0.07813	T	0.8	.	4.1521	0.10242	0.0:0.5955:0.1948:0.2097	.	540;540;541	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	492;541;540;540	ENSP00000389722:T492I;ENSP00000292928:T541I;ENSP00000407593:T540I;ENSP00000410113:T540I	ENSP00000292928:T541I	T	+	2	0	ZNF382	41810261	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.905000	0.04075	1.192000	0.43071	0.591000	0.81541	ACT		TCGA-3E-AAAZ-01A-11D-A38G-08	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	1	0	1	44	286	0	113	0	1.850031e-02	0	2	0	113	2		0	0	0	0	0	2	1	1	42	281	0	113	2		0	0	0	0	113	2	-20.000000	1	1	0	0		1	0	0	0	1.992977	0	0.380000	1.810000	0.352953	0.660000	0.500000	0.860000	0.670000	0.679741	0.660000	0	0.580000	0.770000
ZNF585B	92285	broad.mit.edu	37	19	37676154	37676154	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:37676154C>T	ENST00000532828.2	-	5	2536	c.2285G>A	c.(2284-2286)aGt>aAt	p.S762N	ZNF585B_ENST00000531805.1_Missense_Mutation_p.S707N|ZNF585B_ENST00000312908.5_Missense_Mutation_p.S350N|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B			29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		CTGATGAACACTGAACACTGA	0.463000													Melanoma(93;882 1454 18863 28917 48427)											0							SO:0001583	missense			ENST00000532828.2	1	1	hg19	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	5.066	0.197903	0.09652	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.15718	2.4;2.4;2.4	2.72	-0.663	0.11410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.836945	0.10095	N	0.716705	T	0.08492	0.0211	N	0.16233	0.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37709	-0.9694	10	0.27082	T	0.32	.	4.5817	0.12262	0.0:0.4379:0.331:0.231	.	707;762	E9PQH3;Q52M93	.;Z585B_HUMAN	N	707;762;350	ENSP00000436774:S707N;ENSP00000433773:S762N;ENSP00000442139:S350N	ENSP00000442139:S350N	S	-	2	0	ZNF585B	42367994	0.000000	0.05858	0.093000	0.20910	0.199000	0.23934	-2.835000	0.00741	0.221000	0.20879	0.305000	0.20034	AGT		TCGA-3E-AAAZ-01A-11D-A38G-08	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	1	0	1	119	498	0	195	0	7.813651e-01	1	13	0	195	2		0	0	0	0	0	2	1	1	115	489	0	192	2		0	0	0	0	195	2	-20.000000	1	1	0	0		1	0	0	0	1.992977	0	0.380000	1.810000	0.352953	0.960000	0.810000	1.000000	1.000000	0.953679	0.960000	1	0.880000	1.000000
RSPH6A	81492	broad.mit.edu	37	19	46307696	46307696	+	Silent	SNP	C	C	T	rs146411467		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:46307696C>T	ENST00000221538.3	-	3	1609	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	RSPH6A_ENST00000600188.1_Silent_p.S225S|RSPH6A_ENST00000597055.1_Silent_p.S489S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)			32					GCGTGGCGGCCGAGATGCGGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000221538.3	1	1	hg19	CCDS12675.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1	1	0	0	12	239	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	9.990030e-01	12	232	0	78	2		0	0	0	0	78	2	-3.161500	1	1	121410	11	40	1	0	0	0	2.053708	0	0.380000	1.810000	0.375252	0.250000	0.130000	0.410000	0.250000	0.266610	0.250000	0	0.180000	0.330000
SAE1	10055	broad.mit.edu	37	19	47646755	47646755	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:47646755C>T	ENST00000270225.7	+	2	171	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	SAE1_ENST00000413379.3_Missense_Mutation_p.R35W|SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000392776.3_Missense_Mutation_p.R35W|SAE1_ENST00000598840.1_Missense_Mutation_p.R35W	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	p.R35W(2)		13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)			TTACAGGCTGCGGGCCTCTCG	0.458000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000270225.7	0	1	hg19	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049237	0.75846	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000414294	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.85	4.81	0.61882	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.86378	0.1727	10	0.72032	D	0.01	.	15.35	0.74376	0.1409:0.8591:0.0:0.0	.	35;35;35	G3XAK6;F5GXX7;Q9UBE0	.;.;SAE1_HUMAN	W	35	ENSP00000416557:R35W;ENSP00000270225:R35W;ENSP00000440818:R35W;ENSP00000398818:R35W	ENSP00000270225:R35W	R	+	1	2	SAE1	52338595	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.111000	0.57838	1.471000	0.48121	-0.175000	0.13238	CGG		TCGA-3E-AAAZ-01A-11D-A38G-08	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	0	0	0	6	281	0	92	0	9.614088e-01	0	277	0	92	2		0	0	0	0	0	2	1	9.630720e-01	6	275	0	91	2		0	0	0	0	92	2	-2.386746	0	1	0	0		1	0	0	0	2.053708	0	0.380000	1.810000	0.375252	0.110000	0.040000	0.220000	0.110000	0.125783	0.110000	0	0.070000	0.170000
NLRP2	55655	broad.mit.edu	37	19	55494938	55494938	+	Silent	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:55494938G>A	ENST00000543010.1	+	6	2015	c.1872G>A	c.(1870-1872)caG>caA	p.Q624Q	NLRP2_ENST00000448584.2_Silent_p.Q624Q|NLRP2_ENST00000263437.6_Silent_p.Q621Q|NLRP2_ENST00000339757.7_Silent_p.Q602Q|NLRP2_ENST00000537859.1_Silent_p.Q602Q|NLRP2_ENST00000538819.1_Silent_p.Q600Q|NLRP2_ENST00000427260.2_Silent_p.Q601Q|NLRP2_ENST00000391721.4_Silent_p.Q600Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2			11			BRCA - Breast invasive adenocarcinoma(297;0.163)		TGATGGCTCAGTTCAAAGAAA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000543010.1	1	1	hg19	CCDS12913.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	1	0	1	39	139	0	57	1	9.999873e-01	59	7	0	57	2		0	0	0	0	0	2	1	1	39	134	0	57	2		0	0	0	0	57	2	-20.000000	1	1	0	0		1	1	2	3	2.083946	0	0.380000	1.810000	0.381176	0.990000	0.850000	1.000000	1.000000	0.987862	0.990000	1	0.990000	1.000000
CDC73	79577	broad.mit.edu	37	1	193111023	193111023	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:193111023A>G	ENST00000367435.3	+	7	740	c.556A>G	c.(556-558)Aaa>Gaa	p.K186E		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73			87					TGCTGCAATCAAAGCCAAAAT	0.363000																								0							SO:0001583	missense			ENST00000367435.3	1	1	hg19	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.913112	0.92178	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.89617	-2.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.94174	0.7426	10	0.56958	D	0.05	-23.6629	16.5582	0.84512	1.0:0.0:0.0:0.0	.	186	Q6P1J9	CDC73_HUMAN	E	186	ENSP00000356405:K186E	ENSP00000356405:K186E	K	+	1	0	CDC73	191377646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.109000	0.94291	2.308000	0.77769	0.533000	0.62120	AAA		TCGA-3E-AAAZ-01A-11D-A38G-08	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	1	0	1	35	205	0	76	1	9.404518e-01	8	22	0	76	2		0	0	0	0	0	2	1	1	35	204	0	76	2		0	0	0	0	76	2	-20.000000	1	1	0	0		1	1	2	3	2.507409	1	0.380000	1.810000	0.478992	0.910000	0.650000	1.000000	1.000000	0.898593	0.910000	1	0.770000	1.000000
NUAK2	81788	broad.mit.edu	37	1	205273036	205273036	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:205273036C>T	ENST00000367157.3	-	7	1555	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2			23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)		CTCACAAACACGTCGCCTGCG	0.587000																								0							SO:0001583	missense			ENST00000367157.3	1	1	hg19	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567476	0.28003	.	.	ENSG00000163545	ENST00000367157	T	0.72282	-0.64	4.86	4.86	0.63082	.	0.000000	0.40640	N	0.001045	T	0.69187	0.3083	L	0.60455	1.87	0.28049	N	0.933438	D	0.64830	0.994	P	0.52159	0.691	T	0.65911	-0.6053	10	0.37606	T	0.19	.	4.1079	0.10045	0.1634:0.5906:0.158:0.088	.	477	Q9H093	NUAK2_HUMAN	M	477	ENSP00000356125:V477M	ENSP00000356125:V477M	V	-	1	0	NUAK2	203539659	0.846000	0.29590	0.989000	0.46669	0.173000	0.22820	1.357000	0.34090	2.234000	0.73211	0.407000	0.27541	GTG		TCGA-3E-AAAZ-01A-11D-A38G-08	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	1	0	1	21	181	0	61	0	3.351851e-01	1	10	0	61	2		0	0	0	0	0	2	1	9.999980e-01	21	178	0	61	2		0	0	0	0	61	2	-9.895783	1	1	121412	6	39	1	1	3	4	2.522300	1	0.380000	1.810000	0.487179	0.720000	0.440000	1.000000	0.660000	0.757985	0.720000	0	0.560000	1.000000
URB2	9816	broad.mit.edu	37	1	229763503	229763503	+	Silent	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:229763503A>G	ENST00000258243.2	+	2	259	c.123A>G	c.(121-123)gaA>gaG	p.E41E	TAF5L_ENST00000477957.1_5'Flank|TAF5L_ENST00000258281.2_5'Flank|TAF5L_ENST00000366675.3_5'Flank|TAF5L_ENST00000366674.1_5'Flank	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)			73					CAAATAAAGAACAAGTAAGTT	0.294000																								0							SO:0001819	synonymous_variant			ENST00000258243.2	0	1	hg19	CCDS31052.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	0	0	0	8	512	0	148	0	1.076311e-02	1	8	0	148	2		0	0	0	0	0	2	1	9.884167e-01	9	499	0	148	2		0	0	0	0	148	2	-2.931921	1	1	0	0		1	1	3	4	2.522300	1	0.380000	1.810000	0.487179	0.110000	0.040000	1.000000	0.090000	0.323202	0.110000	0	0.070000	1.000000
NLRP3	114548	broad.mit.edu	37	1	247587616	247587616	+	Missense_Mutation	SNP	G	G	A	rs145092553		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:247587616G>A	ENST00000336119.3	+	3	1617	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	NLRP3_ENST00000391827.2_Missense_Mutation_p.V291M|NLRP3_ENST00000348069.2_Missense_Mutation_p.V291M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V291M|NLRP3_ENST00000366496.2_Missense_Mutation_p.V291M|NLRP3_ENST00000366497.2_Missense_Mutation_p.V291M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3			142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		CCACAAGATCGTGAGAAAACC	0.562000																								0							SO:0001583	missense			ENST00000336119.3	1	1	hg19	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	0.829	-0.746010	0.03065	0.0	1.16E-4	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	4.04	-3.93	0.04143	NACHT nucleoside triphosphatase (1);	0.890365	0.09442	N	0.801583	T	0.51381	0.1671	N	0.13003	0.285	0.09310	N	1	B;B;P;B;B	0.40602	0.07;0.057;0.723;0.194;0.038	B;B;B;B;B	0.31495	0.025;0.015;0.131;0.04;0.028	T	0.51764	-0.8664	10	0.16420	T	0.52	.	2.6671	0.05056	0.1107:0.4328:0.1811:0.2754	.	291;291;291;291;291	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	291	ENSP00000375704:V291M;ENSP00000355453:V291M;ENSP00000337383:V291M;ENSP00000294752:V291M;ENSP00000355452:V291M;ENSP00000375703:V291M	ENSP00000337383:V291M	V	+	1	0	NLRP3	245654239	0.004000	0.15560	0.095000	0.20976	0.012000	0.07955	0.080000	0.14802	-0.743000	0.04784	0.563000	0.77884	GTG		TCGA-3E-AAAZ-01A-11D-A38G-08	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	1	0	1	168	296	0	156	0	2.995791e-01	0	3	0	156	2		0	0	0	0	0	2	1	1	163	282	0	150	2		0	0	0	0	156	2	-20.000000	1	1	121412	4	38	1	1	3	4	2.522300	1	0.380000	1.810000	0.487179	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MEGF6	1953	broad.mit.edu	37	1	3411193	3411193	+	Silent	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:3411193C>T	ENST00000356575.4	-	31	4210	c.3984G>A	c.(3982-3984)ggG>ggA	p.G1328G	MEGF6_ENST00000294599.4_Silent_p.G1093G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6			19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)			CGCAGTGCCGCCCCGTCCAGC	0.711000													Ovarian(73;978 3658)											0							SO:0001819	synonymous_variant			ENST00000356575.4	0	1	hg19	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.369662	0.01225	.	.	ENSG00000162591	ENST00000491842	D	0.82619	-1.63	3.72	0.574	0.17368	.	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	.	.	.	0.53005	D	0.999965	.	.	.	.	.	.	D	0.84086	0.0387	7	0.66056	D	0.02	-26.2078	9.8377	0.40980	0.0:0.499:0.4156:0.0854	.	.	.	.	D	102	ENSP00000420386:G102D	ENSP00000420386:G102D	G	-	2	0	MEGF6	3401053	0.000000	0.05858	0.089000	0.20774	0.012000	0.07955	-0.398000	0.07259	0.312000	0.23038	0.462000	0.41574	GGC		TCGA-3E-AAAZ-01A-11D-A38G-08	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	0	0	0	3	12	0	9	0	9.750119e-01	0	37	0	9	2		0	0	0	0	0	2	1	8.136201e-01	3	12	0	9	2		0	0	0	0	9	2	-10.909080	1	1	0	0		1	0	1	1	1.706239	1	0.380000	1.810000	0.234568	0.670000	0.230000	0.980000	0.740000	0.660133	0.670000	0	0.420000	0.890000
SEL1L2	80343	broad.mit.edu	37	20	13846127	13846127	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:13846127C>T	ENST00000284951.5	-	16	1512	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)			51					AATTTCTCAGCCCAGTGGCCT	0.433000																								0							SO:0001583	missense			ENST00000284951.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.20	3.570723	0.65765	.	.	ENSG00000101251	ENST00000284951	T	0.50813	0.73	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000036	T	0.52403	0.1732	L	0.39245	1.2	0.46260	D	0.998956	D	0.67145	0.996	P	0.61070	0.883	T	0.36286	-0.9754	10	0.14656	T	0.56	-7.8336	12.6549	0.56782	0.165:0.835:0.0:0.0	.	480	Q5TEA6	SE1L2_HUMAN	T	480	ENSP00000284951:A480T	ENSP00000284951:A480T	A	-	1	0	SEL1L2	13794127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.684000	0.61686	2.774000	0.95407	0.655000	0.94253	GCT		TCGA-3E-AAAZ-01A-11D-A38G-08	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	0	0	0	18	366	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	9.999812e-01	18	361	0	143	2		0	0	0	0	143	2	-4.820165	1	1	0	0		1	0	0	0	2.055692	0	0.380000	1.810000	0.375252	0.240000	0.140000	0.370000	0.240000	0.255986	0.240000	0	0.190000	0.310000
PDYN	5173	broad.mit.edu	37	20	1961195	1961195	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:1961195C>T	ENST00000217305.2	-	4	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin			38					GGGGTATTTGCGCAAAAAGCC	0.602000																								0							SO:0001583	missense			ENST00000217305.2	1	1	hg19	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772531	0.90108	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86769	-2.17;-2.17;-2.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:1.0:0.0:0.0	.	180	P01213	PDYN_HUMAN	H	180	ENSP00000440185:R180H;ENSP00000442259:R180H;ENSP00000217305:R180H	ENSP00000217305:R180H	R	-	2	0	PDYN	1909195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.652000	0.61454	2.445000	0.82738	0.313000	0.20887	CGC		TCGA-3E-AAAZ-01A-11D-A38G-08	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2	1	0	1	91	409	0	189		0	0	0	0	189	2		0	0	0	0	0	2	1	1	86	401	0	186	2		0	0	0	0	189	2	-3.221387	1	1	121412	5	40	1	0	0	0	2.055692	0	0.380000	1.810000	0.375252	0.940000	0.770000	1.000000	1.000000	0.936140	0.940000	1	0.850000	1.000000
BACH1	571	broad.mit.edu	37	21	30693720	30693720	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr21:30693720T>C	ENST00000399921.1	+	2	362	c.119T>C	c.(118-120)gTg>gCg	p.V40A	BACH1_ENST00000286800.3_Missense_Mutation_p.V40A	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1			27					ACCATCTTTGTGGAGGGACAG	0.517000																								0							SO:0001583	missense			ENST00000399921.1	1	1	hg19	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270251	0.80469	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.4	5.4	0.78164	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	T	0.49830	0.1580	L	0.50993	1.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.41413	-0.9510	9	.	.	.	-19.2783	15.7695	0.78157	0.0:0.0:0.0:1.0	.	40	O14867	BACH1_HUMAN	A	40	ENSP00000286800:V40A;ENSP00000382805:V40A;ENSP00000400576:V40A;ENSP00000408605:V40A;ENSP00000392202:V40A	.	V	+	2	0	BACH1	29615591	1.000000	0.71417	0.996000	0.52242	0.569000	0.35902	5.701000	0.68325	2.183000	0.69458	0.451000	0.29950	GTG		TCGA-3E-AAAZ-01A-11D-A38G-08	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	1	0	1	104	364	0	184	1	9.997354e-01	11	34	0	184	2		0	0	0	0	0	2	1	1	103	354	0	184	2		0	0	0	0	184	2	-20.000000	1	1	0	0		1	1	2	3	2.082276	0	0.380000	1.810000	0.381176	0.990000	0.970000	1.000000	1.000000	0.998567	0.990000	1	0.990000	1.000000
PES1	23481	broad.mit.edu	37	22	30976083	30976083	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr22:30976083G>T	ENST00000405677.1	-	13	1652	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	PES1_ENST00000354694.7_Missense_Mutation_p.Q376K|PES1_ENST00000335214.6_Missense_Mutation_p.Q371K|PES1_ENST00000402284.3_Missense_Mutation_p.Q359K|PES1_ENST00000402281.1_Missense_Mutation_p.Q237K	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1			29					TCGACAATCTGATGGGTGATG	0.577000																								0							SO:0001583	missense			ENST00000405677.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	36	5.682142	0.96774	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.28	5.28	0.74379	BRCT (4);	0.127391	0.56097	D	0.000035	D	0.89781	0.6814	M	0.89287	3.02	0.80722	D	1	D;D;P;D	0.63046	0.969;0.992;0.925;0.969	P;D;P;P	0.67382	0.72;0.951;0.616;0.72	D	0.91528	0.5240	10	0.72032	D	0.01	-34.7935	18.5306	0.90990	0.0:0.0:1.0:0.0	.	376;359;371;376	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	K	376;237;237;359;371	ENSP00000346725:Q376K;ENSP00000384366:Q237K;ENSP00000385654:Q237K;ENSP00000384252:Q359K;ENSP00000334612:Q371K	ENSP00000334612:Q371K	Q	-	1	0	PES1	29306083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.655000	0.98512	2.467000	0.83353	0.655000	0.94253	CAG		TCGA-3E-AAAZ-01A-11D-A38G-08	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	1	0	1	113	461	0	204	1	1	125	241	0	204	2		0	0	0	0	0	2	1	1	110	442	0	200	2		0	0	0	0	204	2	-20.000000	1	1	0	0		1	1	2	3	2.102370	0	0.380000	1.810000	0.384676	0.990000	0.870000	1.000000	1.000000	0.984203	0.990000	1	0.950000	1.000000
GREB1	9687	broad.mit.edu	37	2	11780474	11780474	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:11780474G>A	ENST00000381486.2	+	33	6044	c.5744G>A	c.(5743-5745)cGc>cAc	p.R1915H	GREB1_ENST00000234142.5_Missense_Mutation_p.R1915H|GREB1_ENST00000396123.1_Missense_Mutation_p.R913H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1			30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				ACGGTCGTCCGCCTGGAGCTC	0.622000													Ovarian(39;850 945 2785 23371 33093)											0							SO:0001583	missense			ENST00000381486.2	1	1	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412272	0.96072	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.33438	2.72;2.72;1.41	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62039	-0.6938	10	0.87932	D	0	-33.8736	18.3628	0.90380	0.0:0.0:1.0:0.0	.	1915	Q4ZG55	GREB1_HUMAN	H	1915;1915;913	ENSP00000370896:R1915H;ENSP00000234142:R1915H;ENSP00000379429:R913H	ENSP00000234142:R1915H	R	+	2	0	GREB1	11697925	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.227000	0.95236	2.316000	0.78162	0.563000	0.77884	CGC		TCGA-3E-AAAZ-01A-11D-A38G-08	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	1	0	1	51	234	0	95	0	8.328248e-01	0	17	0	95	2		0	0	0	0	0	2	1	1	48	223	0	94	2		0	0	0	0	95	2	-20.000000	1	1	120982	2	33	1	1	2	3	2.086862	0	0.380000	1.810000	0.382347	0.940000	0.720000	1.000000	1.000000	0.924647	0.940000	1	0.820000	1.000000
DTYMK	1841	broad.mit.edu	37	2	242625239	242625239	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:242625239C>T	ENST00000305784.2	-	2	391	c.184G>A	c.(184-186)Gac>Aac	p.D62N	DTYMK_ENST00000493095.1_5'UTR	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)			7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)			TCCTCCACGTCACTTTTCTTT	0.438000																								0							SO:0001583	missense			ENST00000305784.2	1	1	hg19	CCDS2552.1	.	.	.	.	.	.	.	.	.	.	C	5.106	0.205171	0.09704	.	.	ENSG00000168393	ENST00000305784	T	0.41400	1.0	5.34	3.25	0.37280	.	0.614711	0.18111	N	0.151344	T	0.16085	0.0387	N	0.03881	-0.34	0.21220	N	0.999754	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.003	T	0.17107	-1.0380	10	0.17369	T	0.5	-13.2689	4.2064	0.10490	0.0:0.531:0.2149:0.2541	.	62;62	B7ZW70;P23919	.;KTHY_HUMAN	N	62	ENSP00000304802:D62N	ENSP00000304802:D62N	D	-	1	0	DTYMK	242273912	0.986000	0.35501	0.013000	0.15412	0.357000	0.29423	2.433000	0.44793	1.216000	0.43427	0.655000	0.94253	GAC		TCGA-3E-AAAZ-01A-11D-A38G-08	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	1	0	1	251	1008	0	420	1	1	47	95	0	420	2		0	0	0	0	0	2	1	1	246	985	0	416	2		0	0	0	0	420	2	-20.000000	1	1	0	0		1	1	2	3	2.101801	0	0.380000	1.810000	0.384676	0.990000	0.930000	1.000000	1.000000	0.995069	0.990000	1	0.990000	1.000000
IMPG2	50939	broad.mit.edu	37	3	100951770	100951770	+	Missense_Mutation	SNP	A	A	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:100951770A>T	ENST00000193391.7	-	15	3275	c.3088T>A	c.(3088-3090)Tgg>Agg	p.W1030R		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2			64				Hyaluronan(DB08818)	TCTCCACTCCAGGGGTTGACC	0.463000																								0							SO:0001583	missense			ENST00000193391.7	1	1	hg19	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993749	0.74703	.	.	ENSG00000081148	ENST00000193391	T	0.25085	1.82	5.88	4.66	0.58398	Epidermal growth factor-like, type 3 (1);	0.082660	0.53938	D	0.000052	T	0.44435	0.1293	L	0.55834	1.745	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.38436	-0.9661	10	0.72032	D	0.01	-4.5245	12.8058	0.57612	0.8637:0.1363:0.0:0.0	.	1030;1030	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	R	1030	ENSP00000193391:W1030R	ENSP00000193391:W1030R	W	-	1	0	IMPG2	102434460	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.846000	0.69444	2.257000	0.74773	0.459000	0.35465	TGG		TCGA-3E-AAAZ-01A-11D-A38G-08	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3	1	0	1	65	235	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	65	229	0	99	2		0	0	0	0	101	2	-20.000000	1	1	0	0		1	0	0	0	2.014901	0	0.380000	1.810000	0.360561	0.990000	0.870000	1.000000	1.000000	0.988714	0.990000	1	0.980000	1.000000
COL6A6	131873	broad.mit.edu	37	3	130361862	130361862	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:130361862G>A	ENST00000358511.6	+	30	5253	c.5222G>A	c.(5221-5223)cGc>cAc	p.R1741H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1741H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6			134					GTGCGAGACCGCAGTCGTAAG	0.393000																								0							SO:0001583	missense			ENST00000358511.6	1	1	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	3.402	-0.122029	0.06795	2.66E-4	0.0	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.88818	-2.42;-2.43	5.67	3.33	0.38152	.	.	.	.	.	T	0.61085	0.2319	N	0.00182	-1.905	0.22253	N	0.999252	B	0.02656	0.0	B	0.01281	0.0	T	0.55755	-0.8091	9	0.12430	T	0.62	.	7.9706	0.30126	0.8354:0.0:0.1646:0.0	.	1741	A6NMZ7	CO6A6_HUMAN	H	1741	ENSP00000351310:R1741H;ENSP00000399236:R1741H	ENSP00000351310:R1741H	R	+	2	0	COL6A6	131844552	1.000000	0.71417	0.542000	0.28115	0.935000	0.57460	3.430000	0.52807	0.445000	0.26639	-0.367000	0.07326	CGC		TCGA-3E-AAAZ-01A-11D-A38G-08	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	1	0	1	19	123	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	9.999932e-01	19	121	0	39	2		0	0	0	0	39	2	-10.725220	1	1	120810	3	32	1	0	0	0	2.014901	0	0.380000	1.810000	0.360561	0.680000	0.430000	0.980000	1.000000	0.698130	0.680000	0	0.550000	0.840000
DLEC1	9940	broad.mit.edu	37	3	38103746	38103746	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:38103746G>T	ENST00000308059.6	+	4	781	c.760G>T	c.(760-762)Gat>Tat	p.D254Y	DLEC1_ENST00000452631.2_Missense_Mutation_p.D254Y|DLEC1_ENST00000346219.3_Missense_Mutation_p.D254Y					deleted in lung and esophageal cancer 1			51					GAAGCTTGAAGATTCATGCAG	0.463000																								0							SO:0001583	missense			ENST00000308059.6	1	1	hg19	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040773	0.19669	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05319	3.47;3.46;3.7	3.67	1.69	0.24217	.	1.190300	0.06148	N	0.673614	T	0.08537	0.0212	L	0.46157	1.445	0.09310	N	1	B;P;B	0.35714	0.333;0.517;0.333	B;B;B	0.35413	0.187;0.202;0.187	T	0.40739	-0.9547	10	0.62326	D	0.03	-0.079	9.4496	0.38719	0.0:0.4281:0.5719:0.0	.	254;254;254	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	Y	254	ENSP00000308597:D254Y;ENSP00000315914:D254Y;ENSP00000410427:D254Y	ENSP00000308597:D254Y	D	+	1	0	DLEC1	38078750	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.182000	0.16900	0.455000	0.26910	0.655000	0.94253	GAT		TCGA-3E-AAAZ-01A-11D-A38G-08	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	1	0	0	17	222	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	9.999647e-01	17	217	0	99	2		0	0	0	0	99	2	-19.978610	1	1	0	0		1	0	0	0	2.014901	0	0.380000	1.810000	0.360561	0.360000	0.220000	0.550000	0.360000	0.378334	0.360000	0	0.280000	0.460000
CHL1	10752	broad.mit.edu	37	3	439920	439920	+	Silent	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:439920C>T	ENST00000256509.2	+	25	3747	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	CHL1_ENST00000397491.2_Silent_p.I1019I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	p.I1035I(1)		93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)			GTAAAGGTATCGGGAAGATAT	0.353000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000256509.2	1	1	hg19	CCDS2556.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	1	0	0	33	162	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	32	160	0	69	2		0	0	0	0	69	2	-3.391473	1	1	121408	4	37	1	0	0	0	2.014901	0	0.380000	1.810000	0.360561	0.860000	0.610000	1.000000	1.000000	0.858773	0.860000	1	0.730000	1.000000
FILIP1L	11259	broad.mit.edu	37	3	99569205	99569205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:99569205G>A	ENST00000354552.3	-	5	1785	c.1315C>T	c.(1315-1317)Caa>Taa	p.Q439*	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.Q15*|FILIP1L_ENST00000331335.5_Nonsense_Mutation_p.Q439*|FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like			35					TAGCATTCTTGTTTGCTTTTG	0.358000																								0							SO:0001587	stop_gained			ENST00000354552.3	0	1	hg19	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736310	0.89482	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	.	.	.	5.55	4.66	0.58398	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-2.2035	16.0018	0.80297	0.0:0.1518:0.8482:0.0	.	.	.	.	X	439;15;199;439;199;185;199	.	ENSP00000327880:Q439X	Q	-	1	0	FILIP1L	101051895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.462000	0.66707	1.286000	0.44565	0.655000	0.94253	CAA		TCGA-3E-AAAZ-01A-11D-A38G-08	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	1	0	1	107	506	0	263	0	1	0	201	0	263	2		0	0	0	0	0	2	1	1	106	496	0	262	2		0	0	0	0	263	2	-20.000000	1	1	0	0		1	0	0	0	2.014901	0	0.380000	1.810000	0.360561	0.880000	0.730000	1.000000	1.000000	0.890069	0.880000	1	0.810000	0.970000
PCDHA2	56146	broad.mit.edu	37	5	140175222	140175222	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:140175222A>G	ENST00000526136.1	+	1	673	c.673A>G	c.(673-675)Acc>Gcc	p.T225A	PCDHA2_ENST00000520672.2_Missense_Mutation_p.T225A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T225A|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2			71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCTCACGGGCACCGTTCAAAT	0.423000																								0							SO:0001583	missense			ENST00000526136.1	1	1	hg19	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	a	14.46	2.541178	0.45280	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.56275	0.47;0.47;0.47	4.02	2.83	0.33086	Cadherin (4);Cadherin-like (1);	0.000000	0.40908	U	0.000988	T	0.69735	0.3144	M	0.92077	3.27	0.31199	N	0.699996	P;B;P	0.40266	0.71;0.374;0.71	B;P;B	0.50378	0.362;0.639;0.362	T	0.75105	-0.3435	10	0.87932	D	0	.	9.9392	0.41570	0.8476:0.0:0.0:0.1524	.	225;225;225	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	A	225	ENSP00000430584:T225A;ENSP00000367372:T225A;ENSP00000431748:T225A	ENSP00000367372:T225A	T	+	1	0	PCDHA2	140155406	0.998000	0.40836	0.981000	0.43875	0.995000	0.86356	4.169000	0.58223	0.681000	0.31386	0.528000	0.53228	ACC		TCGA-3E-AAAZ-01A-11D-A38G-08	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	1	92	456	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	1	89	450	0	166	2		0	0	0	0	167	2	-20.000000	1	1	0	0		1	1	2	3	2.093560	0	0.380000	1.810000	0.382347	0.880000	0.720000	1.000000	1.000000	0.887473	0.880000	1	0.800000	0.980000
FAM71B	153745	broad.mit.edu	37	5	156590130	156590130	+	Silent	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:156590130G>T	ENST00000302938.4	-	2	1241	c.1146C>A	c.(1144-1146)acC>acA	p.T382T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B			68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		CACACTTGCTGGTCGTAATAC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000302938.4	1	1	hg19	CCDS4335.1																																																																																				TCGA-3E-AAAZ-01A-11D-A38G-08	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	0	0	0	10	227	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	9.966511e-01	10	221	0	77	2		0	0	0	0	78	2	-2.885356	1	1	121412	2	34	1	1	2	3	2.093560	0	0.380000	1.810000	0.382347	0.230000	0.110000	0.420000	0.220000	0.248937	0.230000	0	0.160000	0.310000
SPATA9	83890	broad.mit.edu	37	5	95011166	95011166	+	Missense_Mutation	SNP	G	G	A	rs140676515	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:95011166G>A	ENST00000274432.8	-	3	469	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.R110C	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9			7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)			CTCAGCAGACGACCAGATATG	0.433000																								0							SO:0001583	missense			ENST00000274432.8	1	0	hg19	CCDS4076.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	12.73	2.024694	0.35701	0.006582	0.0	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.31510	1.49	4.76	3.88	0.44766	.	0.000000	0.51477	D	0.000082	T	0.26448	0.0646	L	0.27053	0.805	0.19300	N	0.999974	D	0.67145	0.996	P	0.57371	0.819	T	0.05818	-1.0862	10	0.87932	D	0	-8.0846	10.6281	0.45519	0.0:0.0:0.8093:0.1907	.	110	Q9BWV2	SPAT9_HUMAN	C	110	ENSP00000274432:R110C	ENSP00000274432:R110C	R	-	1	0	SPATA9	95036922	0.074000	0.21230	0.029000	0.17559	0.011000	0.07611	1.948000	0.40303	1.329000	0.45376	0.655000	0.94253	CGT		TCGA-3E-AAAZ-01A-11D-A38G-08	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	1	0	1	49	233	0	114	0	0	0	1	0	114	2		0	0	0	0	0	2	1	1	49	231	0	112	2		0	0	0	0	114	2	-3.273902	1	1	121412	72	51	1	1	2	3	2.093560	0	0.380000	1.810000	0.382347	0.910000	0.690000	1.000000	1.000000	0.906018	0.910000	1	0.800000	1.000000
GPRC6A	222545	broad.mit.edu	37	6	117113727	117113727	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:117113727C>T	ENST00000310357.3	-	6	2380	c.2359G>A	c.(2359-2361)Ggc>Agc	p.G787S	GPRC6A_ENST00000530250.1_Missense_Mutation_p.G612S|GPRC6A_ENST00000368549.3_Missense_Mutation_p.G716S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A			65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)			ATGAGCATGCCAAATGTAATG	0.378000																								0							SO:0001583	missense			ENST00000310357.3	1	1	hg19	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880765	0.17467	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.85411	-1.98;-1.98;-1.98	4.26	4.26	0.50523	GPCR, family 3, C-terminal (2);	0.000000	0.53938	D	0.000041	T	0.62146	0.2404	N	0.04669	-0.19	0.49130	D	0.999757	P;P;P	0.39903	0.65;0.504;0.694	P;B;B	0.47603	0.551;0.292;0.418	T	0.70171	-0.4945	10	0.02654	T	1	.	16.8566	0.86007	0.0:1.0:0.0:0.0	.	716;612;787	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	S	787;716;612	ENSP00000309493:G787S;ENSP00000357537:G716S;ENSP00000433465:G612S	ENSP00000309493:G787S	G	-	1	0	GPRC6A	117220420	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.930000	0.48924	2.210000	0.71456	0.591000	0.81541	GGC		TCGA-3E-AAAZ-01A-11D-A38G-08	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2	1	0	1	38	176	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	37	176	0	87	2		0	0	0	0	86	2	-3.185659	1	1	0	0		1	0	1	1	1.695354	1	0.380000	1.810000	0.234568	0.740000	0.540000	0.940000	0.750000	0.752837	0.740000	0	0.640000	0.860000
TULP4	56995	broad.mit.edu	37	6	158922970	158922970	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:158922970G>A	ENST00000367097.3	+	13	3632	c.2275G>A	c.(2275-2277)Gga>Aga	p.G759R	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4			49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)			GGTGATTTTCGGAAGCGTGGA	0.612000																								0							SO:0001583	missense			ENST00000367097.3	1	1	hg19	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270972	0.80469	.	.	ENSG00000130338	ENST00000367097	T	0.61980	0.06	5.64	5.64	0.86602	.	0.395439	0.28327	N	0.015758	T	0.44932	0.1317	L	0.56769	1.78	0.80722	D	1	P	0.45011	0.848	B	0.34722	0.188	T	0.56565	-0.7958	10	0.54805	T	0.06	-15.9636	14.9195	0.70826	0.0707:0.0:0.9293:0.0	.	759	Q9NRJ4	TULP4_HUMAN	R	759	ENSP00000356064:G759R	ENSP00000356064:G759R	G	+	1	0	TULP4	158842958	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.865000	0.69583	2.659000	0.90383	0.650000	0.86243	GGA		TCGA-3E-AAAZ-01A-11D-A38G-08	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	1	0	0	41	696	0	308	0	9.008827e-02	0	9	0	308	2		0	0	0	0	0	2	1	1	40	672	0	306	2		0	0	0	0	308	2	-2.774566	1	1	121412	2	40	1	0	1	1	1.695354	1	0.380000	1.810000	0.234568	0.230000	0.160000	0.310000	0.240000	0.241214	0.230000	0	0.190000	0.280000
XPO5	57510	broad.mit.edu	37	6	43491668	43491668	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:43491668T>C	ENST00000265351.7	-	32	3763	c.3553A>G	c.(3553-3555)Atg>Gtg	p.M1185V	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5			34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		GTCTCCAGCATTGGCTTTGTT	0.463000																								0							SO:0001583	missense			ENST00000265351.7	0	1	hg19	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	2.456	-0.325143	0.05350	.	.	ENSG00000124571	ENST00000265351;ENST00000439465	T	0.27256	1.68	6.05	-7.28	0.01456	.	0.722313	0.14370	N	0.323863	T	0.02156	0.0067	N	0.04203	-0.255	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.25106	T	0.35	-0.074	5.3159	0.15854	0.1366:0.4805:0.0853:0.2977	.	1185	Q9HAV4	XPO5_HUMAN	V	1185;813	ENSP00000265351:M1185V	ENSP00000265351:M1185V	M	-	1	0	XPO5	43599646	0.347000	0.24853	0.870000	0.34147	0.979000	0.70002	-0.064000	0.11636	-0.740000	0.04803	-0.280000	0.10049	ATG		TCGA-3E-AAAZ-01A-11D-A38G-08	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	0	0	0	4	265	0	123	0	3.649573e-01	0	71	0	123	2		0	0	0	0	0	2		0	0	0	0	0	2		0	0	0	0	123	2	-4.214947	1	0	120838	1	31	1	0	1	1	1.756394	1	0.380000	1.810000	0.262256	0.070000	0.020000	0.160000	0.070000	0.080765	0.070000	0	0.040000	0.110000
GRM8	2918	broad.mit.edu	37	7	126173814	126173814	+	Missense_Mutation	SNP	C	C	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:126173814C>G	ENST00000339582.2	-	9	2430	c.1622G>C	c.(1621-1623)tGt>tCt	p.C541S	GRM8_ENST00000358373.3_Missense_Mutation_p.C541S|GRM8_ENST00000444921.2_Missense_Mutation_p.C541S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8			125		Prostate(267;0.186)			GTAACCTTCACAGCGTTCACA	0.562000										HNSCC(24;0.065)														0							SO:0001583	missense			ENST00000339582.2	1	1	hg19	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281561	0.80692	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.99494	-6.01;-6.01;-6.01	5.8	5.8	0.92144	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.98682	4.3	0.80722	D	1	P;D	0.89917	0.867;1.0	B;D	0.87578	0.359;0.998	D	0.97086	0.9787	10	0.87932	D	0	.	19.0428	0.93008	0.0:1.0:0.0:0.0	.	541;541	O00222-2;O00222	.;GRM8_HUMAN	S	541	ENSP00000344173:C541S;ENSP00000409790:C541S;ENSP00000351142:C541S	ENSP00000344173:C541S	C	-	2	0	GRM8	125961050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.811000	0.86092	2.758000	0.94735	0.643000	0.83706	TGT		TCGA-3E-AAAZ-01A-11D-A38G-08	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4	1	0	1	74	325	0	141		0	0	0	0	141	2		0	0	0	0	0	2	1	1	73	321	0	140	2		0	0	0	0	141	2	-20.000000	1	1	0	0		1	0	0	0	2.065404	0	0.380000	1.810000	0.377635	0.960000	0.770000	1.000000	1.000000	0.946398	0.960000	1	0.860000	1.000000
PTPN12	5782	broad.mit.edu	37	7	77230064	77230064	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:77230064G>A	ENST00000248594.6	+	8	908	c.636G>A	c.(634-636)atG>atA	p.M212I	PTPN12_ENST00000435495.2_Missense_Mutation_p.M82I|PTPN12_ENST00000415482.2_Missense_Mutation_p.M93I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12			39					TTCTGGACATGATAAGCTTAA	0.328000																								0							SO:0001583	missense			ENST00000248594.6	1	1	hg19	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202288	0.94997	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;D;D	0.82893	2.85;-1.66;-1.66	5.51	5.51	0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	L	0.41573	1.285	0.80722	D	1	D	0.58620	0.983	D	0.63033	0.91	D	0.88185	0.2873	10	0.66056	D	0.02	.	19.4115	0.94675	0.0:0.0:1.0:0.0	.	212	Q05209	PTN12_HUMAN	I	212;93;93;82	ENSP00000248594:M212I;ENSP00000392429:M93I;ENSP00000397991:M82I	ENSP00000248594:M212I	M	+	3	0	PTPN12	77068000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.824000	0.86668	2.585000	0.87301	0.557000	0.71058	ATG		TCGA-3E-AAAZ-01A-11D-A38G-08	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3	1	0	1	100	354	0	129	1	1	52	75	0	129	2		0	0	0	0	0	2	1	1	99	347	0	127	2		0	0	0	0	129	2	-20.000000	1	1	0	0		1	0	0	0	2.065404	0	0.380000	1.810000	0.377635	0.990000	0.950000	1.000000	1.000000	0.997714	0.990000	1	0.990000	1.000000
BAALC	79870	broad.mit.edu	37	8	104225200	104225200	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr8:104225200G>A	ENST00000297574.6	+	3	458	c.319G>A	c.(319-321)Ggt>Agt	p.G107S	RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron|BAALC_ENST00000309982.5_Missense_Mutation_p.G72S|RP11-318M2.2_ENST00000523614.2_RNA			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic			7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)		TACAGCCCCAGGTGGAATACC	0.577000																								0							SO:0001583	missense			ENST00000297574.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.40	1.927804	0.34002	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.53206	1.02;0.63	5.47	1.85	0.25348	.	0.578794	0.17232	N	0.181915	T	0.30070	0.0753	.	.	.	0.80722	D	1	B;B	0.18741	0.03;0.005	B;B	0.17722	0.014;0.019	T	0.05971	-1.0853	9	0.26408	T	0.33	-6.8436	5.7463	0.18122	0.4639:0.0:0.5361:0.0	.	107;72	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	S	72;107	ENSP00000312457:G72S;ENSP00000297574:G107S	ENSP00000297574:G107S	G	+	1	0	BAALC	104294376	0.137000	0.22531	0.196000	0.23383	0.544000	0.35116	0.274000	0.18680	0.631000	0.30412	0.650000	0.86243	GGT		TCGA-3E-AAAZ-01A-11D-A38G-08	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1	1	0	1	86	382	0	190	0	3.082701e-01	0	6	0	190	2		0	0	0	0	0	2	1	1	86	372	0	186	2		0	0	0	0	190	2	-2.938922	1	1	0	0		1	1	2	3	2.087904	0	0.380000	1.810000	0.382347	0.960000	0.790000	1.000000	1.000000	0.948510	0.960000	1	0.870000	1.000000
OR1N2	138882	broad.mit.edu	37	9	125315452	125315452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:125315452G>T	ENST00000373688.2	+	1	62	c.4G>T	c.(4-6)Gaa>Taa	p.E2*		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2			26					CTGACACATGGAAGGTTTTTA	0.408000																								0							SO:0001587	stop_gained			ENST00000373688.2	0	1	hg19	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426314	0.62733	.	.	ENSG00000171501	ENST00000373688	.	.	.	3.55	0.384	0.16244	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	0.7679	0.01018	0.2222:0.1643:0.399:0.2145	.	.	.	.	X	2	.	ENSP00000362792:E2X	E	+	1	0	OR1N2	124355273	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.184000	0.09698	-0.024000	0.13941	0.638000	0.83543	GAA		TCGA-3E-AAAZ-01A-11D-A38G-08	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2	1	0	1	81	325	1	161		0	0	0	1	161	2	1	1	146	525	0	727	2	1	1	75	322	1	160	11		0	0	0	1	161	2	-20.000000	1	1	0	0		1	0	1	1	1.897685	1	0.380000	1.810000	0.324839	0.950000	0.780000	1.000000	1.000000	0.942531	0.950000	1	0.860000	1.000000
CACNA1B	774	broad.mit.edu	37	9	141014657	141014657	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:141014657C>T	ENST00000371372.1	+	45	6216	c.6071C>T	c.(6070-6072)aCg>aTg	p.T2024M	CACNA1B_ENST00000277551.2_Missense_Mutation_p.T2024M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.T1218M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T2025M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T2022M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T2023M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit			80	all_cancers(76;0.166)			Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCATCTCCACGCTGGCCCAG	0.687000																								0							SO:0001583	missense			ENST00000371372.1	1	1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339170	0.81911	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.78	4.78	0.61160	.	0.330500	0.29767	N	0.011255	T	0.73961	0.3654	L	0.49126	1.545	0.80722	D	1	P;P	0.48162	0.906;0.906	P;P	0.45276	0.475;0.475	T	0.77411	-0.2598	10	0.52906	T	0.07	.	17.8144	0.88627	0.0:1.0:0.0:0.0	.	2023;2022	B1AQK7;B1AQK6	.;.	M	2024;2024;1218;2022;2023;2025	ENSP00000360423:T2024M;ENSP00000277551:T2024M;ENSP00000277549:T1218M;ENSP00000360414:T2022M;ENSP00000360408:T2023M;ENSP00000360406:T2025M	ENSP00000277549:T1218M	T	+	2	0	CACNA1B	140134478	0.997000	0.39634	0.976000	0.42696	0.747000	0.42532	3.527000	0.53517	2.210000	0.71456	0.491000	0.48974	ACG		TCGA-3E-AAAZ-01A-11D-A38G-08	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1	24	48	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	24	48	0	24	2		0	0	0	0	24	2	-20.000000	1	1	0	0		1	0	0	0	1.897261	1	0.380000	1.810000	0.320622	0.990000	0.990000	1.000000	1.000000	0.998906	0.990000	1	0.990000	1.000000
C9orf3	84909	broad.mit.edu	37	9	97843044	97843044	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:97843044G>T	ENST00000375315.2	+	14	2301	c.2301G>T	c.(2299-2301)agG>agT	p.R767S	C9orf3_ENST00000433691.2_Missense_Mutation_p.R108S|C9orf3_ENST00000297979.5_Missense_Mutation_p.R668S|C9orf3_ENST00000425634.2_Missense_Mutation_p.R129S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3			23					GTGTGGAGAGGTTCCTTCAGG	0.502000																								0							SO:0001583	missense			ENST00000375315.2	1	1	hg19	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.063994|2.063994	0.36373|0.36373	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314|ENST00000445181	T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0|.	5.57|5.57	-11.1|-11.1	0.00147|0.00147	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);|.	0.730929|.	0.12958|.	N|.	0.425271|.	T|T	0.34308|0.34308	0.0893|0.0893	L|L	0.57536|0.57536	1.79|1.79	0.22156|0.22156	N|N	0.999328|0.999328	P;P;B;B;B|.	0.48834|.	0.845;0.916;0.095;0.418;0.306|.	P;P;B;B;B|.	0.51657|.	0.676;0.515;0.053;0.085;0.169|.	T|T	0.36939|0.36939	-0.9727|-0.9727	10|5	0.11485|.	T|.	0.65|.	0.0602|0.0602	6.0437|6.0437	0.19748|0.19748	0.1409:0.4072:0.3673:0.0845|0.1409:0.4072:0.3673:0.0845	.|.	108;129;767;668;668|.	B4DU39;B4DQU3;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;.;AMPO_HUMAN;.;.|.	S|F	668;767;491;549;129;108;131|132	ENSP00000297979:R668S;ENSP00000364464:R767S;ENSP00000402171:R491S;ENSP00000401854:R549S;ENSP00000411815:R129S;ENSP00000399365:R108S|.	ENSP00000297979:R668S|.	R|V	+|+	3|1	2|0	C9orf3|C9orf3	96882865|96882865	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.090000|0.090000	0.18270|0.18270	-1.167000|-1.167000	0.03126|0.03126	-1.392000|-1.392000	0.02082|0.02082	-0.378000|-0.378000	0.06908|0.06908	AGG|GTT		TCGA-3E-AAAZ-01A-11D-A38G-08	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	43	246	0	112	1	1	33	244	0	112	2		0	0	0	0	0	2	1	1	42	239	0	112	2		0	0	0	0	112	2	-20.000000	1	1	0	0		1	0	1	1	1.924680	0	0.380000	1.810000	0.333118	0.720000	0.540000	0.930000	0.720000	0.734447	0.720000	0	0.620000	0.830000
HTR2C	3358	broad.mit.edu	37	X	114082716	114082716	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chrX:114082716C>T	ENST00000276198.1	+	5	1228	c.500C>T	c.(499-501)tCg>tTg	p.S167L	HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.S167L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	p.S167L(1)		50				Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGTTTCAATTCGCGGACTAAG	0.408000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000276198.1	1	1	hg19	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713163	0.89112	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.41400	1.0;1.0	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69369	0.3103	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77112	-0.2708	10	0.87932	D	0	.	13.3413	0.60547	0.0:1.0:0.0:0.0	.	167	P28335	5HT2C_HUMAN	L	167	ENSP00000276198:S167L;ENSP00000361019:S167L	ENSP00000276198:S167L	S	+	2	0	HTR2C	113988972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	1.704000	0.51252	0.544000	0.68410	TCG		TCGA-3E-AAAZ-01A-11D-A38G-08	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	1	0	1	78	193	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1	78	190	0	101	2		0	0	0	0	102	2	-20.000000	1	1	0	0		1	0	1	1			0.380000	1.810000	0.380000	0.740000	0.610000	0.890000	0.750000	0.756800	0.740000	0	0.680000	0.830000
