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
INF2	64423	broad.mit.edu	37	14	105180688	105180689	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			-	T	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:105180688_105180689insT	ENST00000392634.4	+	21	3301_3302	c.3189_3190insT	c.(3190-3192)ttgfs	p.L1064fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.L1064fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing			8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)		CCCTGGAGCAGTTGGAGGAGGG	0.663000																								0							SO:0001589	frameshift_variant			ENST00000392634.4	0	1	hg19	CCDS9989.2																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	1	0	0	10	45	0	33	0	1	0	245	0	33	2			0	0	0	0		1	0.996711	9	42	0	34	2	0	0	0	0	0	0		-19.620090	1	1	0	0		1	0	1	1	1.546377	1	0.560000	1.800000	0.388889	0.460000	2.500000e-01	0.730000	0.460000	0.482168	0.460000	0	0.340000	0.610000
MBD1	4152	broad.mit.edu	37	18	47797907	47797914	+	Splice_Site	DEL	GGACCTAG	GGACCTAG	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			GGACCTAG	-	GGACCTAG	GGACCTAG		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:47797907_47797914delGGACCTAG	ENST00000591416.1	-	16	2210_2213	c.1779_1782delCTAGGTCC	c.(1777-1782)agctag>ag	p.S*593fs	MBD1_ENST00000349085.2_Splice_Site_p.S*491fs|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000353909.3_Splice_Site_p.S*544fs|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000398488.1_Splice_Site_p.S*491fs|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000398493.1_Splice_Site_p.S*537fs|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000347968.3_Splice_Site_p.S*537fs|MBD1_ENST00000585595.1_Splice_Site_p.S*618fs|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000457839.2_Splice_Site_p.S*618fs|MBD1_ENST00000591535.1_Splice_Site_p.S*524fs|MBD1_ENST00000382948.5_Splice_Site_p.S*593fs|MBD1_ENST00000436910.1_Splice_Site_p.S*524fs|MBD1_ENST00000269468.5_Splice_Site_p.S*593fs|MBD1_ENST00000424334.2_Splice_Site_p.S*644fs|MBD1_ENST00000398495.2_Splice_Site_p.S*554fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1			36					TAAGGTCTTTGGACCTAGGGAAAAGGGA	0.442000																								0							SO:0001630	splice_region_variant			ENST00000591416.1	1	1	hg19	CCDS11943.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	0	0	0	115	459	0	355	0	9.997315e-01	0	50	0	355	2			0	0	0	0		1	1.000000	208	519	28	374	69	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.553807	1	0.560000	1.800000	0.388889	0.510000	4.200000e-01	0.600000	0.510000	0.516442	0.510000	0	0.460000	0.560000
SMAD4	4089	broad.mit.edu	37	18	48586256	48586262	+	Frame_Shift_Del	DEL	GCATTCC	GCATTCC	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			GCATTCC	-	GCATTCC	GCATTCC		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:48586256_48586262delGCATTCC	ENST00000342988.3	+	8	1463_1469	c.925_931delGCATTCC	c.(925-933)gcattccagfs	p.AFQ309fs	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.AFQ309fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(3)|p.Q311*(2)|p.F310L(1)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			CAATGAGCTTGCATTCCAGCCTCCCAT	0.329000																								42	Whole gene deletion(36)|Unknown(3)|Substitution - Nonsense(2)|Substitution - Missense(1)	GRCh37	CI064731	SMAD4	I		SO:0001589	frameshift_variant			ENST00000342988.3	1	1	hg19	CCDS11950.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0	56	247	0	177	0	9.971798e-01	1	41	0	177	2	1	1	95	607	0	692	2	1	1.000000	66	242	1	177	8	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.553807	1	0.560000	1.800000	0.388889	0.470000	3.600000e-01	0.590000	0.470000	0.478078	0.470000	0	0.410000	0.530000
SHOC2	8036	broad.mit.edu	37	10	112724158	112724158	+	Silent	SNP	A	A	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:112724158A>G	ENST00000369452.4	+	2	387	c.42A>G	c.(40-42)aaA>aaG	p.K14K	SHOC2_ENST00000265277.5_Silent_p.K14K|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)			17					CTAAAGAAAAAGATCCCAAAG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000369452.4	0	1	hg19	CCDS7568.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	0	0	0	4	170	0	106	0	2.699243e-01	0	36	0	106	2		0	0	0	0	0	2	1	0.884373	4	165	0	106	2		0	0	0	0	106	2	-3.183656	1	1	0	0		1	1	2	3	2.169384	0	0.560000	1.800000	0.566075	0.090000	2.000000e-02	1.000000	0.080000	0.136499	0.090000	0	0.050000	0.160000
TDRD1	56165	broad.mit.edu	37	10	115970681	115970681	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:115970681G>T	ENST00000369280.1	+	13	2075	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	TDRD1_ENST00000369281.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D539Y|TDRD1_ENST00000251864.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D200Y			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1			48		Colorectal(252;0.172)|Breast(234;0.188)			TCCACGCTCTGATTTTTATCC	0.348000																								0							SO:0001583	missense			ENST00000369280.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.84	2.356797	0.41801	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95	5.9	4.05	0.47172	Maternal tudor protein (1);	0.205916	0.39985	N	0.001202	T	0.27098	0.0664	M	0.75884	2.315	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.81914	0.978;0.973;0.995;0.955;0.991	T	0.07366	-1.0776	10	0.66056	D	0.02	-14.3001	5.4576	0.16600	0.2129:0.0:0.6388:0.1482	.	200;539;539;539;539	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	Y	539;539;539;200;539	ENSP00000358288:D539Y;ENSP00000251864:D539Y;ENSP00000358287:D539Y;ENSP00000402794:D200Y;ENSP00000358286:D539Y	ENSP00000251864:D539Y	D	+	1	0	TDRD1	115960671	0.914000	0.31030	0.540000	0.28089	0.698000	0.40448	1.437000	0.34991	1.498000	0.48600	0.563000	0.77884	GAT		TCGA-IB-AAUN-01A-12D-A38G-08	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2	0	0	1	77	199	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1.000000	75	196	0	122	2		0	0	0	0	123	2	-6.472448	1	0	0	0		1	1	2	3	2.169384	0	0.560000	1.800000	0.566075	0.990000	8.200000e-01	1.000000	1.000000	0.968727	0.990000	1	0.910000	1.000000
GFRA1	2674	broad.mit.edu	37	10	118030528	118030528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:118030528C>T	ENST00000355422.6	-	3	690	c.140G>A	c.(139-141)cGc>cAc	p.R47H	GFRA1_ENST00000369236.1_Missense_Mutation_p.R47H|GFRA1_ENST00000439649.3_Missense_Mutation_p.R47H|GFRA1_ENST00000490345.1_5'Flank	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1			26		Lung NSC(174;0.21)			CCTTAGCGTGCGGTACTTGGT	0.637000													Ovarian(128;329 1725 45498 46808 50759)											0							SO:0001583	missense			ENST00000355422.6	0	1	hg19	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	35	5.527077	0.96431	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000369234	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	3.95	3.95	0.45737	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78682	-0.2109	10	0.52906	T	0.07	-20.05	16.2431	0.82426	0.0:1.0:0.0:0.0	.	47;47	P56159;P56159-2	GFRA1_HUMAN;.	H	47	ENSP00000393725:R47H;ENSP00000358239:R47H;ENSP00000347591:R47H;ENSP00000358237:R47H	ENSP00000347591:R47H	R	-	2	0	GFRA1	118020518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.617000	0.83032	2.044000	0.60594	0.549000	0.68633	CGC		TCGA-IB-AAUN-01A-12D-A38G-08	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	0	0	0	7	277	0	134	0	8.179766e-03	0	5	0	134	2		0	0	0	0	0	2	1	0.980472	7	275	0	134	2		0	0	0	0	134	2	-3.567326	1	1	0	0		1	1	2	3	2.169384	0	0.560000	1.800000	0.566075	0.090000	3.000000e-02	1.000000	0.090000	0.135162	0.090000	0	0.060000	0.140000
HKDC1	80201	broad.mit.edu	37	10	71005968	71005968	+	Missense_Mutation	SNP	C	C	T	rs148723879		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:71005968C>T	ENST00000354624.5	+	8	1142	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R337W	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1			34					GATCGAAACACGGCACGTGGC	0.572000																								0							SO:0001583	missense			ENST00000354624.5	1	1	hg19	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900111	0.52227	0.0	2.33E-4	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.96554	-4.05;-4.05	4.68	2.69	0.31865	Hexokinase, C-terminal (1);	0.498975	0.22141	N	0.064050	D	0.93716	0.7992	M	0.63843	1.955	0.09310	N	1	D	0.69078	0.997	B	0.41917	0.37	D	0.88588	0.3141	10	0.87932	D	0	-9.0294	8.3136	0.32086	0.3743:0.5092:0.1165:0.0	.	337	Q2TB90	HKDC1_HUMAN	W	337	ENSP00000346643:R337W;ENSP00000378521:R337W	ENSP00000346643:R337W	R	+	1	2	HKDC1	70675974	0.065000	0.20965	0.684000	0.30055	0.622000	0.37654	2.558000	0.45879	1.172000	0.42781	0.561000	0.74099	CGG		TCGA-IB-AAUN-01A-12D-A38G-08	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	1	0	1	73	196	0	130	1	1	23	64	0	130	2		0	0	0	0	0	2	1	1.000000	72	192	0	126	2		0	0	0	0	130	2	-20.000000	1	1	121412	11	41	1	1	2	3	2.169384	0	0.560000	1.800000	0.566075	0.980000	7.900000e-01	1.000000	1.000000	0.955245	0.980000	1	0.880000	1.000000
SLIT1	6585	broad.mit.edu	37	10	98762035	98762035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:98762035C>T	ENST00000266058.4	-	36	4491	c.4246G>A	c.(4246-4248)Ggg>Agg	p.G1416R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Intron	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)			78		Colorectal(252;0.162)			GCCAGGGCCCCGGCCTGGTTG	0.662000																								0							SO:0001583	missense			ENST00000266058.4	1	1	hg19	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	4.285	0.052094	0.08291	.	.	ENSG00000187122	ENST00000266058	T	0.80480	-1.38	4.42	2.57	0.30868	.	0.164002	0.53938	N	0.000048	T	0.58323	0.2114	N	0.04203	-0.255	0.45354	D	0.998344	B	0.06786	0.001	B	0.04013	0.001	T	0.45804	-0.9236	10	0.29301	T	0.29	.	10.0301	0.42096	0.0:0.771:0.0:0.229	.	1416	O75093	SLIT1_HUMAN	R	1416	ENSP00000266058:G1416R	ENSP00000266058:G1416R	G	-	1	0	SLIT1	98752025	0.007000	0.16637	0.178000	0.23040	0.155000	0.21991	0.849000	0.27723	0.499000	0.27970	-0.221000	0.12465	GGG		TCGA-IB-AAUN-01A-12D-A38G-08	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	1	0	1	16	45	0	28	0	7.589286e-02	0	2	0	28	2		0	0	0	0	0	2	1	0.999969	16	44	0	28	2		0	0	0	0	28	2	-20.000000	1	1	121164	1	23	1	1	2	3	2.169384	0	0.560000	1.800000	0.566075	0.960000	6.000000e-01	1.000000	1.000000	0.905226	0.960000	1	0.760000	1.000000
HINFP	25988	broad.mit.edu	37	11	119004822	119004822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:119004822C>T	ENST00000350777.2	+	10	1231	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	HINFP_ENST00000527410.1_Silent_p.C410C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	p.R390W(1)		23					TGGCTATATGCGGCTGCAGCT	0.567000											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												1	Substitution - Missense(1)						SO:0001583	missense			ENST00000350777.2	0	1	hg19	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964717	0.74131	.	.	ENSG00000172273	ENST00000350777	T	0.10573	2.86	5.31	2.36	0.29203	.	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02646	-1.1129	10	0.87932	D	0	-27.7523	14.9379	0.70970	0.5073:0.4927:0.0:0.0	.	390	Q9BQA5	HINFP_HUMAN	W	390	ENSP00000318085:R390W	ENSP00000318085:R390W	R	+	1	2	HINFP	118510032	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.333000	0.43912	0.360000	0.24265	-0.152000	0.13540	CGG		TCGA-IB-AAUN-01A-12D-A38G-08	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	0	0	0	5	326	0	188	0	6.408095e-02	0	22	0	188	2		0	0	0	0	0	2	1	0.935475	5	321	0	187	2		0	0	0	0	188	2	-2.500008	1	1	0	0		1	1	2	3	2.138887	0	0.560000	1.800000	0.561229	0.050000	1.000000e-02	0.130000	0.060000	0.064355	0.050000	0	0.030000	0.090000
OR10G7	390265	broad.mit.edu	37	11	123909404	123909404	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:123909404A>G	ENST00000330487.5	-	1	313	c.305T>C	c.(304-306)tTt>tCt	p.F102S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7			47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			GAAGTGGAAAAAATAGAGCTG	0.532000																								0							SO:0001583	missense			ENST00000330487.5	1	1	hg19	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	A	0.908	-0.719988	0.03182	.	.	ENSG00000182634	ENST00000330487	T	0.00502	6.95	3.39	-2.56	0.06268	GPCR, rhodopsin-like superfamily (1);	1.214850	0.05929	N	0.634898	T	0.00524	0.0017	M	0.64630	1.985	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39165	-0.9627	10	0.41790	T	0.15	.	5.7826	0.18314	0.3487:0.4967:0.1546:0.0	.	102	Q8NGN6	O10G7_HUMAN	S	102	ENSP00000329689:F102S	ENSP00000329689:F102S	F	-	2	0	OR10G7	123414614	0.000000	0.05858	0.311000	0.25182	0.042000	0.13812	0.173000	0.16724	-0.386000	0.07821	-0.666000	0.03841	TTT		TCGA-IB-AAUN-01A-12D-A38G-08	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	1	0	0	63	578	0	327		0	0	0	0	327	2		0	0	0	0	0	2	1	1.000000	57	508	0	374	2		0	0	0	0	327	2	-20.000000	1	1	0	0		1	1	2	3	2.138887	0	0.560000	1.800000	0.561229	0.340000	2.700000e-01	0.440000	0.350000	0.356037	0.340000	0	0.300000	0.400000
BCL7A	605	broad.mit.edu	37	12	122492809	122492809	+	Missense_Mutation	SNP	G	G	A	rs148056282		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:122492809G>A	ENST00000261822.4	+	5	744	c.538G>A	c.(538-540)Gca>Aca	p.A180T	BCL7A_ENST00000538010.1_Missense_Mutation_p.A180T	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A			18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				GGGTCTGGCCGCAGAGACGTC	0.567000			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GBM(17;197 467 16477 23242 44349)		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	0							SO:0001583	missense			ENST00000261822.4	0	1	hg19	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	G	0.318	-0.963497	0.02249	0.0	1.16E-4	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.44083	0.93;1.01	6.07	0.0514	0.14297	.	0.533452	0.21468	N	0.074043	T	0.12774	0.0310	N	0.02539	-0.55	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.08055	0.003;0.002	T	0.28299	-1.0048	10	0.08837	T	0.75	.	5.2306	0.15420	0.4794:0.0:0.3844:0.1362	.	180;180	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	T	180	ENSP00000445868:A180T;ENSP00000261822:A180T	ENSP00000261822:A180T	A	+	1	0	BCL7A	120977192	0.318000	0.24598	0.000000	0.03702	0.001000	0.01503	0.660000	0.25009	-0.097000	0.12307	-0.137000	0.14449	GCA		TCGA-IB-AAUN-01A-12D-A38G-08	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1	0	0	0	6	294	0	194	0	4.996645e-02	0	15	0	194	2		0	0	0	0	0	2	1	0.963916	6	290	0	193	2		0	0	0	0	194	2	-2.695311	1	1	121412	4	39	1	0	1	1	1.768437	1	0.560000	1.800000	0.413958	0.050000	1.000000e-02	0.110000	0.050000	0.061866	0.050000	0	0.030000	0.080000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-IB-AAUN-01A-12D-A38G-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	76	221	0	119	1	9.884392e-01	9	14	0	119	2	1	1	116	335	0	303	2	1	1.000000	75	217	0	117	2	1	1	2229	5800	0	119	2	-20.000000	1	1	121404	2	44	1	2	2	4	2.495063	1	0.560000	1.800000	0.626866	0.990000	8.800000e-01	1.000000	1.000000	0.989790	0.990000	1	0.980000	1.000000
CCNA1	8900	broad.mit.edu	37	13	37012789	37012789	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:37012789C>T	ENST00000255465.4	+	5	942	c.678C>T	c.(676-678)caC>caT	p.H226H	CCNA1_ENST00000440264.1_Silent_p.H182H|CCNA1_ENST00000449823.1_Silent_p.H182H|CCNA1_ENST00000418263.1_Silent_p.H225H			P78396	CCNA1_HUMAN	cyclin A1			35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		AGATAAGGCACAGACCCAAAG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000255465.4	1	1	hg19	CCDS9357.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	1	0	0	41	107	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1.000000	40	106	0	74	2		0	0	0	0	74	2	-20.000000	1	1	0	0		1	0	0	0	2.116285	0	0.560000	1.800000	0.560000	0.980000	7.400000e-01	1.000000	1.000000	0.945373	0.980000	1	0.850000	1.000000
KIAA0586	9786	broad.mit.edu	37	14	58915077	58915077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:58915077C>T	ENST00000556134.1	+	8	1056	c.782C>T	c.(781-783)gCa>gTa	p.A261V	KIAA0586_ENST00000261244.5_Missense_Mutation_p.A276V|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A329V|KIAA0586_ENST00000423743.3_Missense_Mutation_p.A232V|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586			34					ATTAGTGCTGCACTCAAGACT	0.328000																								0							SO:0001583	missense			ENST00000556134.1	1	1	hg19	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801789	0.90538	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000555833;ENST00000261244;ENST00000546216	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.75102	0.3804	M	0.68952	2.095	0.45239	D	0.998243	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.994;0.998;0.998	T	0.77038	-0.2736	10	0.87932	D	0	.	17.3225	0.87239	0.0:1.0:0.0:0.0	.	136;136;329;276;261;232	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	V	329;261;232;191;276;136	ENSP00000346359:A329V;ENSP00000452351:A261V;ENSP00000399427:A232V;ENSP00000450855:A191V;ENSP00000261244:A276V	ENSP00000261244:A276V	A	+	2	0	KIAA0586	57984830	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.520000	0.60524	2.696000	0.92011	0.585000	0.79938	GCA		TCGA-IB-AAUN-01A-12D-A38G-08	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	1	0	1	70	105	0	115	0	0	0	1	0	115	2		0	0	0	0	0	2	1	1.000000	69	104	0	115	2		0	0	0	0	115	2	-20.000000	1	1	0	0		1	0	1	1	1.546377	1	0.560000	1.800000	0.388889	0.940000	8.000000e-01	1.000000	0.990000	0.936437	0.940000	1	0.870000	0.990000
MYO5C	55930	broad.mit.edu	37	15	52536564	52536564	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:52536564C>T	ENST00000261839.7	-	19	2540	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC			66					TCACAGTTTGCTGACCCCGGA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000261839.7	0	1	hg19	CCDS42036.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	0	0	0	5	369	0	123	0	1.123582e-01	0	35	0	123	2		0	0	0	0	0	2	1	0.934810	5	363	0	122	2		0	0	0	0	123	2	-2.808618	1	1	0	0		1	1	2	3	2.134988	0	0.560000	1.800000	0.561229	0.040000	1.000000e-02	0.110000	0.050000	0.056967	0.040000	0	0.020000	0.080000
RAB27A	5873	broad.mit.edu	37	15	55497880	55497880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:55497880G>A	ENST00000396307.2	-	6	742	c.491C>T	c.(490-492)gCt>gTt	p.A164V	RAB27A_ENST00000569493.1_Missense_Mutation_p.A164V|RAB27A_ENST00000336787.1_Missense_Mutation_p.A164V|RAB27A_ENST00000564609.1_Missense_Mutation_p.A164V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family			9					CCCATTGGCAGCACTAGTTTC	0.443000																								0							SO:0001583	missense			ENST00000396307.2	0	1	hg19	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584941	0.96578	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	D;D	0.88818	-2.43;-2.43	5.49	5.49	0.81192	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96017	0.9006	10	0.87932	D	0	-18.6991	18.3593	0.90370	0.0:0.0:1.0:0.0	.	164	P51159	RB27A_HUMAN	V	164;156;164	ENSP00000379601:A164V;ENSP00000337761:A164V	ENSP00000337761:A164V	A	-	2	0	RAB27A	53285172	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.751000	0.98889	2.585000	0.87301	0.655000	0.94253	GCT		TCGA-IB-AAUN-01A-12D-A38G-08	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	0	0	0	5	358	0	151	0	2.308849e-01	0	55	0	151	2		0	0	0	0	0	2	1	0.935186	5	352	0	149	2		0	0	0	0	151	2	-3.138838	1	1	0	0		1	1	2	3	2.134988	0	0.560000	1.800000	0.561229	0.050000	1.000000e-02	0.120000	0.050000	0.058695	0.050000	0	0.020000	0.080000
BANP	54971	broad.mit.edu	37	16	88061097	88061097	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:88061097T>C	ENST00000393207.1	+	8	1101	c.880T>C	c.(880-882)Ttc>Ctc	p.F294L	BANP_ENST00000393208.2_Missense_Mutation_p.F263L|BANP_ENST00000355163.5_Missense_Mutation_p.F269L|BANP_ENST00000479780.2_Missense_Mutation_p.F263L|BANP_ENST00000355022.4_Missense_Mutation_p.F263L|BANP_ENST00000538234.1_Missense_Mutation_p.F302L|BANP_ENST00000286122.7_Missense_Mutation_p.F294L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein			12					AGGTCACCTTTTCTATAAATT	0.617000																								0							SO:0001583	missense			ENST00000393207.1	1	1	hg19	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049507	0.75846	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.5	5.5	0.81552	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	N	0.14661	0.345	0.58432	D	0.999999	P;D;D;D;P;D	0.65815	0.951;0.973;0.963;0.995;0.954;0.993	P;P;D;D;D;D	0.77557	0.696;0.872;0.966;0.989;0.916;0.99	T	0.26538	-1.0100	10	0.51188	T	0.08	-0.7334	14.7894	0.69827	0.0:0.0:0.0:1.0	.	302;269;263;294;263;263	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	L	294;269;259;263;263;263;263;302;294	ENSP00000286122:F294L;ENSP00000347290:F269L;ENSP00000432508:F263L;ENSP00000376903:F263L;ENSP00000347125:F263L;ENSP00000444352:F302L;ENSP00000376902:F294L	ENSP00000286122:F294L	F	+	1	0	BANP	86618598	1.000000	0.71417	0.923000	0.36655	0.252000	0.25951	7.305000	0.78891	2.090000	0.63153	0.379000	0.24179	TTC		TCGA-IB-AAUN-01A-12D-A38G-08	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	1	0	1	94	222	0	141	1	9.833710e-01	3	15	0	141	2		0	0	0	0	0	2	1	1.000000	92	216	0	140	2		0	0	0	0	141	2	-20.000000	1	1	0	0		1	1	2	3	2.131575	0	0.560000	1.800000	0.561229	0.990000	8.800000e-01	1.000000	1.000000	0.987920	0.990000	1	0.970000	1.000000
MYH2	4620	broad.mit.edu	37	17	10436865	10436865	+	Silent	SNP	G	G	A	rs146411264		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:10436865G>A	ENST00000245503.5	-	20	2649	c.2265C>T	c.(2263-2265)atC>atT	p.I755I	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I755I|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult			176					GGTCAATGTCGATGGATGCAA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000245503.5	0	1	hg19	CCDS11156.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	0	0	0	7	468	1	286		0	0	0	1	286	2		0	0	0	0	0	2	0	0.488302	7	463	1	285	8		0	0	0	1	286	2	-2.425391	0	1	121412	5	43	1	0	1	1	1.564307	1	0.560000	1.800000	0.388889	0.030000	1.000000e-02	0.070000	0.040000	0.042978	0.030000	0	0.020000	0.060000
DBF4B	80174	broad.mit.edu	37	17	42828492	42828492	+	Silent	SNP	G	G	A	rs148114647	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:42828492G>A	ENST00000315005.3	+	14	1857	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B			7		Prostate(33;0.0322)			CCTCACATCCGTGTACCCTTG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000315005.3	1	1	hg19	CCDS11485.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	1	0	1	100	434	0	239	0	3.579171e-02	1	1	0	239	2		0	0	0	0	0	2	1	1.000000	99	421	0	234	2		0	0	0	0	239	2	-3.439637	1	1	121412	14	47	1	1	2	3	2.182111	0	0.560000	1.800000	0.567270	0.680000	5.600000e-01	1.000000	0.680000	0.698179	0.680000	0	0.610000	0.760000
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ATCTCGAAGCGCTCACGCCCA	0.522000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	GRCh37	CM981929	TP53	M		SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		TCGA-IB-AAUN-01A-12D-A38G-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	38	48	0	50	1	1	30	24	0	50	2	1	1	271	412	0	550	2	1	1.000000	37	45	0	50	2		0	0	0	0	50	2	-20.000000	1	1	121410	1	29	1	0	1	1	1.564307	1	0.560000	1.800000	0.388889	0.940000	7.800000e-01	1.000000	0.990000	0.932967	0.940000	1	0.870000	0.990000
TCF4	6925	broad.mit.edu	37	18	52899813	52899813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:52899813T>C	ENST00000356073.4	-	17	2187	c.1576A>G	c.(1576-1578)Acg>Gcg	p.T526A	TCF4_ENST00000398339.1_Missense_Mutation_p.T628A|TCF4_ENST00000564999.1_Missense_Mutation_p.T526A|TCF4_ENST00000564403.2_Missense_Mutation_p.T532A|TCF4_ENST00000567880.1_Missense_Mutation_p.T466A|TCF4_ENST00000568740.1_Missense_Mutation_p.T501A|TCF4_ENST00000561831.3_Missense_Mutation_p.T366A|TCF4_ENST00000566286.1_Missense_Mutation_p.T523A|TCF4_ENST00000561992.1_Missense_Mutation_p.T396A|TCF4_ENST00000537578.1_Missense_Mutation_p.T502A|TCF4_ENST00000570287.2_Missense_Mutation_p.T366A|TCF4_ENST00000565018.2_Missense_Mutation_p.T526A|TCF4_ENST00000540999.1_Missense_Mutation_p.T502A|TCF4_ENST00000570177.2_Missense_Mutation_p.T396A|TCF4_ENST00000457482.3_Missense_Mutation_p.T366A|TCF4_ENST00000543082.1_Missense_Mutation_p.T484A|TCF4_ENST00000537856.3_Missense_Mutation_p.T396A|TCF4_ENST00000568673.1_Missense_Mutation_p.T502A|TCF4_ENST00000544241.2_Missense_Mutation_p.T455A|TCF4_ENST00000564228.1_Missense_Mutation_p.T455A|TCF4_ENST00000566279.1_Missense_Mutation_p.T466A|TCF4_ENST00000354452.3_Missense_Mutation_p.T526A	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4			41					GAAGATTTCGTGTCTTGCAGG	0.453000																								0							SO:0001583	missense			ENST00000356073.4	1	1	hg19	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	T	2.304	-0.359529	0.05138	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.16897	2.57;2.31;2.62;2.62;2.62;2.57;2.56;2.37;2.55	5.35	4.18	0.49190	.	0.176553	0.51477	D	0.000093	T	0.05777	0.0151	N	0.03050	-0.425	0.38345	D	0.944171	B;B;B;B;B;B;B;B;B	0.18310	0.0;0.016;0.001;0.027;0.0;0.0;0.001;0.0;0.01	B;B;B;B;B;B;B;B;B	0.23150	0.001;0.015;0.001;0.044;0.0;0.001;0.002;0.0;0.003	T	0.24977	-1.0145	10	0.09590	T	0.72	-5.2262	5.6177	0.17440	0.1509:0.0821:0.0:0.767	.	502;526;366;628;526;484;455;366;523	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	A	526;366;526;484;502;502;455;396;628	ENSP00000346440:T526A;ENSP00000409447:T366A;ENSP00000348374:T526A;ENSP00000439656:T484A;ENSP00000445202:T502A;ENSP00000440731:T502A;ENSP00000441562:T455A;ENSP00000439827:T396A;ENSP00000381382:T628A	ENSP00000346440:T526A	T	-	1	0	TCF4	51050811	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	0.581000	0.23819	0.872000	0.35775	0.383000	0.25322	ACG		TCGA-IB-AAUN-01A-12D-A38G-08	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	1	0	1	115	148	0	151	1	1	2	49	0	151	2		0	0	0	0	0	2	1	1.000000	114	145	0	150	2		0	0	0	0	151	2	-20.000000	1	1	0	0		1	0	1	1	1.553807	1	0.560000	1.800000	0.388889	0.970000	8.900000e-01	1.000000	0.990000	0.970826	0.970000	1	0.930000	1.000000
LRRC30	339291	broad.mit.edu	37	18	7231664	7231664	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:7231664G>A	ENST00000383467.2	+	1	542	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	p.A176A(1)		31					ACTTCTTCGCGCACATCCCCA	0.552000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000383467.2	0	1	hg19	CCDS42409.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	0	0	0	5	416	1	195		0	0	0	1	195	2		0	0	0	0	0	2	0	0.139044	5	409	1	193	10		0	0	0	1	195	2	-2.239799	0	1	121082	2	31	1	1	2	3	2.180031	0	0.560000	1.800000	0.567270	0.040000	0	1.000000	0.040000	0.095817	0.040000	0	0.020000	0.080000
ACPT	93650	broad.mit.edu	37	19	51298323	51298323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:51298323G>A	ENST00000270593.1	+	11	1189	c.1189G>A	c.(1189-1191)Gga>Aga	p.G397R	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Missense_Mutation_p.G304R	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular			11		all_neural(266;0.057)			CCTGCTGGCCGGAGCTGTAGC	0.677000																								0							SO:0001583	missense			ENST00000270593.1	0	1	hg19	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	18.35	3.605092	0.66445	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.13420	2.76;2.59	4.14	4.14	0.48551	.	0.282362	0.27117	N	0.020860	T	0.24198	0.0586	L	0.41824	1.3	0.33730	D	0.618158	D	0.89917	1.0	D	0.68483	0.958	T	0.16660	-1.0395	10	0.25106	T	0.35	-8.8258	12.3028	0.54884	0.0:0.0:1.0:0.0	.	397	Q9BZG2	PPAT_HUMAN	R	397;304	ENSP00000270593:G397R;ENSP00000270594:G304R	ENSP00000270593:G397R	G	+	1	0	ACPT	55990135	0.999000	0.42202	0.983000	0.44433	0.808000	0.45660	4.443000	0.59994	2.037000	0.60232	0.561000	0.74099	GGA		TCGA-IB-AAUN-01A-12D-A38G-08	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	0	0	0	10	32	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	0.997107	7	32	0	23	2		0	0	0	0	23	2	-19.904370	1	1	120938	1	30	1	1	2	3	2.162368	0	0.560000	1.800000	0.564873	0.870000	4.700000e-01	1.000000	1.000000	0.843443	0.870000	1	0.650000	1.000000
PEG3	5178	broad.mit.edu	37	19	57328906	57328906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:57328906G>A	ENST00000326441.9	-	10	1267	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	PEG3_ENST00000598410.1_Missense_Mutation_p.R178W|PEG3_ENST00000423103.2_Missense_Mutation_p.R302W|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R176W|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3			170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			CAAATCCCCCGCCGGTGGGTT	0.458000																								0							SO:0001583	missense			ENST00000326441.9	1	1	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475230	0.63737	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02737	4.18;4.18	4.27	3.22	0.36961	.	0.000000	0.43919	D	0.000511	T	0.06962	0.0177	L	0.27053	0.805	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.972;0.972;0.981	T	0.36407	-0.9749	9	0.51188	T	0.08	-23.6433	11.7512	0.51849	0.0:0.0:0.8225:0.1775	.	178;302;237	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	W	302;302;272	ENSP00000326581:R302W;ENSP00000403051:R302W	ENSP00000292074:R272W	R	-	1	2	ZIM2	62020718	0.147000	0.22687	0.499000	0.27577	0.991000	0.79684	3.450000	0.52957	1.367000	0.46095	0.561000	0.74099	CGG		TCGA-IB-AAUN-01A-12D-A38G-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1	122	346	1	193		0	0	0	1	193	2		0	0	0	0	0	2	1	1.000000	120	333	1	188	10		0	0	0	1	193	2	-5.989526	1	1	121376	2	36	1	1	2	3	2.158275	0	0.560000	1.800000	0.564873	0.940000	7.900000e-01	1.000000	1.000000	0.935868	0.940000	1	0.860000	1.000000
ATXN7L2	127002	broad.mit.edu	37	1	110032901	110032901	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110032901C>T	ENST00000369870.3	+	9	1260	c.1245C>T	c.(1243-1245)acC>acT	p.T415T		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2			17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)			AGTTCTGCACCTTTGGGAGCC	0.597000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000369870.3	0	1	hg19	CCDS30794.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	0	0	0	6	282	0	186	0	6.635857e-04	0	2	0	186	2		0	0	0	0	0	2	1	0.963877	6	278	0	184	2		0	0	0	0	186	2	-2.434781	0	1	0	0		1	0	1	1	1.538419	1	0.560000	1.800000	0.388889	0.050000	1.000000e-02	0.110000	0.050000	0.061723	0.050000	0	0.030000	0.080000
AMPD2	271	broad.mit.edu	37	1	110172900	110172900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110172900G>A	ENST00000256578.3	+	16	2551	c.2191G>A	c.(2191-2193)Gcc>Acc	p.A731T	AMPD2_ENST00000393688.3_Missense_Mutation_p.A612T|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.A613T|AMPD2_ENST00000528667.1_Missense_Mutation_p.A731T|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.A656T|AMPD2_ENST00000342115.4_Missense_Mutation_p.A650T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2			7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)			GATCGGCATCGCCATGTCTCC	0.652000																								0							SO:0001583	missense			ENST00000256578.3	0	1	hg19	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.324955|5.324955	0.95708|0.95708	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.83335|.	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Adenosine/AMP deaminase (1);|.	0.102270|.	0.64402|.	D|.	0.000003|.	T|T	0.67344|0.67344	0.2883|0.2883	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.993;0.989;0.999|.	D;P;P;P|.	0.85130|.	0.997;0.739;0.705;0.873|.	T|T	0.66999|0.66999	-0.5781|-0.5781	10|5	0.54805|.	T|.	0.06|.	-24.088|-24.088	17.3347|17.3347	0.87277|0.87277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;612;731;650|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	T|H	650;731;731;656;613;612|701	ENSP00000345498:A650T;ENSP00000436541:A731T;ENSP00000256578:A731T;ENSP00000351573:A656T;ENSP00000437164:A613T;ENSP00000377292:A612T|.	ENSP00000256578:A731T|.	A|R	+|+	1|2	0|0	AMPD2|AMPD2	109974423|109974423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.780000|0.780000	0.44128|0.44128	9.595000|9.595000	0.98260|0.98260	2.424000|2.424000	0.82194|0.82194	0.561000|0.561000	0.74099|0.74099	GCC|CGC		TCGA-IB-AAUN-01A-12D-A38G-08	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1	0	0	0	6	390	1	303	0	1.784174e-01	0	43	1	303	2		0	0	0	0	0	2	1	0.962101	6	379	0	302	2		0	0	0	1	303	2	-2.420047	0	1	0	0		1	0	1	1	1.538419	1	0.560000	1.800000	0.388889	0.030000	1.000000e-02	0.080000	0.040000	0.045042	0.030000	0	0.020000	0.060000
MTOR	2475	broad.mit.edu	37	1	11217239	11217239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:11217239C>T	ENST00000361445.4	-	30	4515	c.4439G>A	c.(4438-4440)cGc>cAc	p.R1480H		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)			149				Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCAGCGCATGCGGCCCAGCAT	0.532000																								0							SO:0001583	missense			ENST00000361445.4	0	1	hg19	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577708	0.65878	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.65549	-0.16	5.32	5.32	0.75619	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	L	0.31926	0.97	0.80722	D	1	B	0.13145	0.007	B	0.01281	0.0	T	0.46190	-0.9209	10	0.30854	T	0.27	-1.1882	19.0009	0.92834	0.0:1.0:0.0:0.0	.	1480	P42345	MTOR_HUMAN	H	1480	ENSP00000354558:R1480H	ENSP00000354558:R1480H	R	-	2	0	MTOR	11139826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.414000	0.80117	2.486000	0.83907	0.655000	0.94253	CGC		TCGA-IB-AAUN-01A-12D-A38G-08	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	0	0	0	5	418	0	260	0	4.200110e-02	0	22	0	260	2		0	0	0	0	0	2	1	0.934298	5	409	0	259	2		0	0	0	0	260	2	-1.773933	0	1	121412	1	33	1	0	1	1	1.591539	1	0.560000	1.800000	0.391256	0.020000	0	0.070000	0.030000	0.036310	0.020000	0	0.010000	0.050000
PLA2G2C	391013	broad.mit.edu	37	1	20501534	20501534	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:20501534C>A	ENST00000429261.2	-	2	205	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	PLA2G2C_ENST00000495760.2_5'UTR|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G52W			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC			7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)			CCTTTATCCCCAAGCCCACAG	0.502000																								0							SO:0001583	missense			ENST00000429261.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.49	3.635175	0.67130	.	.	ENSG00000187980	ENST00000429261;ENST00000247992	T;D	0.86030	1.34;-2.06	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000031	D	0.94621	0.8266	H	0.96142	3.775	0.50632	D	0.99988	.	.	.	.	.	.	D	0.95955	0.8957	8	0.87932	D	0	.	14.0795	0.64912	0.0:1.0:0.0:0.0	.	.	.	.	W	49;52	ENSP00000389335:G49W;ENSP00000247992:G52W	ENSP00000247992:G52W	G	-	1	0	PLA2G2C	20374121	0.879000	0.30193	1.000000	0.80357	0.765000	0.43378	2.413000	0.44618	2.364000	0.80123	0.655000	0.94253	GGG		TCGA-IB-AAUN-01A-12D-A38G-08	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000007689.3	0	0	0	5	129	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	0.930963	5	123	0	115	2		0	0	0	0	115	2	-3.426894	1	1	0	0		1	0	1	1	1.605528	1	0.560000	1.800000	0.391256	0.100000	3.000000e-02	0.210000	0.100000	0.112572	0.100000	0	0.060000	0.150000
DTL	51514	broad.mit.edu	37	1	212209261	212209261	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209261C>G	ENST00000366991.4	+	1	343	c.29C>G	c.(28-30)cCc>cGc	p.P10R	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.P10R|INTS7_ENST00000366993.3_5'Flank|INTS7_ENST00000440600.2_5'Flank|INTS7_ENST00000366994.3_5'Flank|INTS7_ENST00000366992.3_5'Flank|INTS7_ENST00000469606.1_5'Flank	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)			23					CTCCGCCAGCCCCAGCTTGGC	0.572000																								0							SO:0001583	missense			ENST00000366991.4	1	1	hg19	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417373	0.83449	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.71103	-0.5;-0.54	5.63	5.63	0.86233	.	0.118711	0.56097	D	0.000025	T	0.81884	0.4917	M	0.64997	1.995	0.40200	D	0.977506	D;P	0.89917	1.0;0.944	D;P	0.87578	0.998;0.587	T	0.82438	-0.0457	10	0.51188	T	0.08	-13.6374	15.2097	0.73209	0.0:1.0:0.0:0.0	.	10;10	F5GZ90;Q9NZJ0	.;DTL_HUMAN	R	10	ENSP00000355958:P10R;ENSP00000443870:P10R	ENSP00000355958:P10R	P	+	2	0	DTL	210275884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.185000	0.50934	2.652000	0.90054	0.655000	0.94253	CCC		TCGA-IB-AAUN-01A-12D-A38G-08	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	1	0	1	38	100	0	78	1	6.180417e-01	3	4	0	78	2		0	0	0	0	0	2	1	1.000000	38	96	0	78	2		0	0	0	0	78	2	-20.000000	1	1	0	0		1	1	2	3	2.136668	0	0.560000	1.800000	0.561229	0.980000	7.300000e-01	1.000000	1.000000	0.942114	0.980000	1	0.850000	1.000000
DTL	51514	broad.mit.edu	37	1	212209262	212209262	+	Silent	SNP	C	C	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209262C>G	ENST00000366991.4	+	1	344	c.30C>G	c.(28-30)ccC>ccG	p.P10P	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.P10P|INTS7_ENST00000366993.3_5'Flank|INTS7_ENST00000440600.2_5'Flank|INTS7_ENST00000366994.3_5'Flank|INTS7_ENST00000366992.3_5'Flank|INTS7_ENST00000469606.1_5'Flank	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)			23					TCCGCCAGCCCCAGCTTGGCG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000366991.4	1	1	hg19	CCDS1502.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	1	0	1	38	100	0	76	1	6.180417e-01	3	4	0	76	2		0	0	0	0	0	2	1	1.000000	38	96	0	76	2		0	0	0	0	76	2	-4.772945	1	1	0	0		1	1	2	3	2.136668	0	0.560000	1.800000	0.561229	0.980000	7.300000e-01	1.000000	1.000000	0.942114	0.980000	1	0.850000	1.000000
ESRRG	2104	broad.mit.edu	37	1	216680448	216680448	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:216680448C>A	ENST00000408911.3	-	7	1363	c.1210G>T	c.(1210-1212)Gct>Tct	p.A404S	ESRRG_ENST00000463665.1_Missense_Mutation_p.A342S|ESRRG_ENST00000366938.2_Missense_Mutation_p.A381S|ESRRG_ENST00000361525.3_Missense_Mutation_p.A381S|ESRRG_ENST00000493603.1_Missense_Mutation_p.A381S|ESRRG_ENST00000487276.1_Missense_Mutation_p.A381S|ESRRG_ENST00000359162.2_Missense_Mutation_p.A381S|ESRRG_ENST00000391890.3_Missense_Mutation_p.A388S|ESRRG_ENST00000366937.1_Missense_Mutation_p.A416S|ESRRG_ENST00000361395.2_Missense_Mutation_p.A381S|ESRRG_ENST00000493748.1_Missense_Mutation_p.A381S|ESRRG_ENST00000360012.3_Missense_Mutation_p.A381S|ESRRG_ENST00000366940.2_Missense_Mutation_p.A381S	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma			49				Diethylstilbestrol(DB00255)	TGCTGGCCAGCTTCATAATCC	0.498000																								0							SO:0001583	missense			ENST00000408911.3	0	1	hg19	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847181	0.32606	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01	5.61	5.61	0.85477	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.047654	0.85682	D	0.000000	D	0.91633	0.7356	N	0.12569	0.235	0.80722	D	1	B;B;B	0.10296	0.0;0.002;0.003	B;B;B	0.15052	0.008;0.012;0.012	D	0.86965	0.2094	10	0.19590	T	0.45	.	19.652	0.95819	0.0:1.0:0.0:0.0	.	342;416;404	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	S	381;381;416;404;381;381;381;381;381;388;342;381;381;381	ENSP00000355225:A381S;ENSP00000355907:A381S;ENSP00000355904:A416S;ENSP00000386171:A404S;ENSP00000352077:A381S;ENSP00000354584:A381S;ENSP00000355905:A381S;ENSP00000353108:A381S;ENSP00000419594:A381S;ENSP00000375761:A388S;ENSP00000418629:A342S;ENSP00000419155:A381S;ENSP00000417374:A381S	ENSP00000346386:A381S	A	-	1	0	ESRRG	214747071	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	4.892000	0.63193	2.656000	0.90262	0.561000	0.74099	GCT		TCGA-IB-AAUN-01A-12D-A38G-08	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	0	0	0	8	442	1	244	0	4.376112e-04	0	2	1	244	2		0	0	0	0	0	2	0	0.479260	8	432	1	243	9		0	0	0	1	244	2	-3.176432	1	1	0	0		1	1	2	3	2.136668	0	0.560000	1.800000	0.561229	0.060000	2.000000e-02	0.130000	0.060000	0.071202	0.060000	0	0.040000	0.100000
CHML	1122	broad.mit.edu	37	1	241797637	241797637	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:241797637T>C	ENST00000366553.1	-	1	1595	c.1432A>G	c.(1432-1434)Ata>Gta	p.I478V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)			26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		GGAGGAACTATCAGAATGGAA	0.428000																								0							SO:0001583	missense			ENST00000366553.1	1	1	hg19	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	T	6.570	0.473395	0.12461	.	.	ENSG00000203668	ENST00000366553	D	0.82167	-1.58	5.08	0.907	0.19321	.	0.297564	0.35013	N	0.003520	T	0.66954	0.2842	.	.	.	0.21147	N	0.999771	B	0.02656	0.0	B	0.09377	0.004	T	0.53236	-0.8467	9	0.42905	T	0.14	-1.3604	0.6338	0.00799	0.164:0.2371:0.1696:0.4293	.	478	P26374	RAE2_HUMAN	V	478	ENSP00000355511:I478V	ENSP00000355511:I478V	I	-	1	0	CHML	239864260	0.971000	0.33674	0.988000	0.46212	0.919000	0.55068	1.313000	0.33585	0.059000	0.16252	-0.313000	0.08912	ATA		TCGA-IB-AAUN-01A-12D-A38G-08	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	1	0	0	31	388	0	210	0	2.312893e-01	0	12	0	210	2		0	0	0	0	0	2	1	1.000000	30	382	0	210	2		0	0	0	0	210	2	-20.000000	1	1	0	0		1	1	2	3	2.136668	0	0.560000	1.800000	0.561229	0.260000	1.800000e-01	0.370000	0.260000	0.271717	0.260000	0	0.220000	0.320000
OR2G2	81470	broad.mit.edu	37	1	247752184	247752184	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:247752184C>T	ENST00000320065.1	+	1	523	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	p.R175C(1)		45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)		CTGTGGGCATCGCCAAGTGGA	0.557000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000320065.1	0	1	hg19	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563482	0.45694	.	.	ENSG00000177489	ENST00000320065	T	0.00137	8.68	4.29	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.910260	0.08981	U	0.865762	T	0.00384	0.0012	M	0.80616	2.505	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.49872	-0.8893	10	0.54805	T	0.06	.	3.3058	0.07000	0.2201:0.5548:0.0:0.2251	.	175	Q8NGZ5	OR2G2_HUMAN	C	175	ENSP00000326349:R175C	ENSP00000326349:R175C	R	+	1	0	OR2G2	245818807	0.025000	0.19082	0.764000	0.31436	0.987000	0.75469	2.319000	0.43788	1.013000	0.39391	0.591000	0.81541	CGC		TCGA-IB-AAUN-01A-12D-A38G-08	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1	0	0	0	5	396	0	231		0	0	0	0	231	2		0	0	0	0	0	2	1	0.934116	5	387	0	230	2		0	0	0	0	231	2	-2.512296	1	1	0	0		1	1	2	3	2.136668	0	0.560000	1.800000	0.561229	0.040000	0	0.110000	0.040000	0.053113	0.040000	0	0.020000	0.080000
ADPRHL2	54936	broad.mit.edu	37	1	36557583	36557583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:36557583G>A	ENST00000373178.4	+	4	619	c.589G>A	c.(589-591)Gct>Act	p.A197T		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2			8		Myeloproliferative disorder(586;0.0393)			GCAGGCCCTGGCTGTGCACCT	0.627000																								0							SO:0001583	missense			ENST00000373178.4	0	1	hg19	CCDS402.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663119	0.96745	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.35421	1.31	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.64067	-0.6494	10	0.30854	T	0.27	-11.8061	19.3486	0.94374	0.0:0.0:1.0:0.0	.	197	Q9NX46	ARHL2_HUMAN	T	197;117;43	ENSP00000362273:A197T	ENSP00000362273:A197T	A	+	1	0	ADPRHL2	36330170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.845000	0.99498	2.546000	0.85860	0.655000	0.94253	GCT		TCGA-IB-AAUN-01A-12D-A38G-08	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	0	0	0	4	170	0	107	0	4.330435e-01	0	54	0	107	2		0	0	0	0	0	2	1	0.884336	4	165	0	106	2		0	0	0	0	107	2	-5.993319	1	1	0	0		1	0	1	1	1.571110	1	0.560000	1.800000	0.388889	0.060000	1.000000e-02	0.140000	0.060000	0.072386	0.060000	0	0.030000	0.100000
LRRC7	57554	broad.mit.edu	37	1	70488845	70488845	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:70488845C>T	ENST00000035383.5	+	15	1498	c.1468C>T	c.(1468-1470)Cgt>Tgt	p.R490C	LRRC7_ENST00000310961.5_Missense_Mutation_p.R495C|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7			162					AAGGGGCCAGCGTGGGATTAC	0.542000																								0							SO:0001583	missense			ENST00000035383.5	1	1	hg19	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925926	0.52759	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.38077	1.16;1.24	5.86	5.86	0.93980	.	0.257341	0.35495	N	0.003162	T	0.10981	0.0268	N	0.08118	0	0.80722	D	1	P	0.49358	0.923	B	0.35859	0.212	T	0.05273	-1.0895	10	0.72032	D	0.01	.	15.6849	0.77402	0.0:1.0:0.0:0.0	.	490	Q96NW7	LRRC7_HUMAN	C	495;490;313	ENSP00000309245:R495C;ENSP00000035383:R490C	ENSP00000035383:R490C	R	+	1	0	LRRC7	70261433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.522000	0.53480	2.775000	0.95449	0.585000	0.79938	CGT		TCGA-IB-AAUN-01A-12D-A38G-08	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	1	0	1	56	77	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1.000000	56	74	0	95	2		0	0	0	0	96	2	-20.000000	1	1	0	0		1	0	1	1	1.571110	1	0.560000	1.800000	0.388889	0.940000	8.000000e-01	1.000000	0.990000	0.940533	0.940000	1	0.880000	0.990000
PMEPA1	56937	broad.mit.edu	37	20	56234669	56234669	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr20:56234669T>C	ENST00000341744.3	-	2	513	c.194A>G	c.(193-195)tAc>tGc	p.Y65C	PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y15C|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y30C|PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y15C|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y15C|PMEPA1_ENST00000472841.1_5'UTR	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1			16					AGACAGCTTGTAGTGGCTCAG	0.577000																								0							SO:0001583	missense			ENST00000341744.3	1	1	hg19	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185907	0.57909	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.68903	-0.36;-0.24;-0.17;-0.17;-0.17;-0.14;-0.17	4.74	4.74	0.60224	.	0.131993	0.52532	D	0.000066	T	0.81413	0.4817	M	0.78049	2.395	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84316	0.0513	10	0.87932	D	0	-27.9109	14.2249	0.65853	0.0:0.0:0.0:1.0	.	30;65	Q5JY37;Q969W9	.;PMEPA_HUMAN	C	65;30;15;15;15;37;122	ENSP00000345826:Y65C;ENSP00000344014:Y30C;ENSP00000379161:Y15C;ENSP00000265626:Y15C;ENSP00000379159:Y15C;ENSP00000401506:Y37C;ENSP00000379164:Y122C	ENSP00000265626:Y15C	Y	-	2	0	PMEPA1	55668075	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	7.867000	0.87062	1.774000	0.52232	0.459000	0.35465	TAC		TCGA-IB-AAUN-01A-12D-A38G-08	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	1	0	1	19	47	0	48	1	1	268	472	0	48	2		0	0	0	0	0	2	1	0.999997	18	47	0	48	2		0	0	0	0	48	2	-20.000000	1	1	0	0		1	0	0	0	2.108254	0	0.560000	1.800000	0.557522	0.990000	6.700000e-01	1.000000	1.000000	0.938576	0.990000	1	0.830000	1.000000
CSF2RB	1439	broad.mit.edu	37	22	37326748	37326748	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:37326748G>A	ENST00000403662.3	+	8	1110	c.888G>A	c.(886-888)ggG>ggA	p.G296G	CSF2RB_ENST00000262825.5_Silent_p.G302G|CSF2RB_ENST00000536485.1_Silent_p.G243G|CSF2RB_ENST00000406230.1_Silent_p.G302G			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)			42				Sargramostim(DB00020)	TGAGGGAGGGGCTCGGCAGCC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000403662.3	1	1	hg19	CCDS13936.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	1	0	1	43	128	0	77	0	7.031130e-01	0	9	0	77	2		0	0	0	0	0	2	1	1.000000	42	122	0	76	2		0	0	0	0	77	2	-20.000000	1	1	0	0		1	1	2	3	2.175080	0	0.560000	1.800000	0.566075	0.910000	6.800000e-01	1.000000	1.000000	0.902919	0.910000	1	0.790000	1.000000
TTLL12	23170	broad.mit.edu	37	22	43575882	43575882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:43575882G>A	ENST00000216129.6	-	4	734	c.671C>T	c.(670-672)aCg>aTg	p.T224M		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12			13		Ovarian(80;0.221)|Glioma(61;0.222)			CCACAGCAGCGTGTAGGCCAC	0.657000																								0							SO:0001583	missense			ENST00000216129.6	0	1	hg19	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906526	0.72868	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.54479	0.57	5.55	5.55	0.83447	.	0.057372	0.64402	D	0.000001	T	0.63426	0.2510	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.53462	0.96;0.96	P;P	0.46237	0.508;0.508	T	0.70590	-0.4830	10	0.87932	D	0	-2.0841	19.5034	0.95105	0.0:0.0:1.0:0.0	.	224;224	B1AH89;Q14166	.;TTL12_HUMAN	M	224	ENSP00000216129:T224M	ENSP00000216129:T224M	T	-	2	0	TTLL12	41905826	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	9.272000	0.95707	2.593000	0.87608	0.655000	0.94253	ACG		TCGA-IB-AAUN-01A-12D-A38G-08	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	0	0	0	4	162	0	98	0	6.380330e-01	1	80	0	98	2		0	0	0	0	0	2	1	0.887017	4	159	0	96	2		0	0	0	0	98	2	-6.461489	1	1	121392	3	34	1	1	2	3	2.175080	0	0.560000	1.800000	0.566075	0.090000	2.000000e-02	1.000000	0.090000	0.141172	0.090000	0	0.050000	0.160000
TACR1	6869	broad.mit.edu	37	2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1			24				Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498000													Pancreas(64;62 1268 3653 14826 43765)											0							SO:0001583	missense			ENST00000305249.5	0	1	hg19	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001310	0.74818	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.76060	-0.99;-0.99	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.049231	0.85682	D	0.000000	T	0.66684	0.2814	L	0.51914	1.62	0.80722	D	1	P	0.47604	0.898	B	0.39660	0.306	T	0.67225	-0.5724	10	0.37606	T	0.19	.	11.5873	0.50925	0.1776:0.8224:0.0:0.0	.	118	P25103	NK1R_HUMAN	T	118	ENSP00000303522:A118T;ENSP00000386448:A118T	ENSP00000303522:A118T	A	-	1	0	TACR1	75279217	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	4.545000	0.60698	2.798000	0.96311	0.655000	0.94253	GCC		TCGA-IB-AAUN-01A-12D-A38G-08	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	0	0	0	8	355	0	193	0	6.700317e-04	0	2	0	193	2		0	0	0	0	0	2	1	0.988824	8	348	0	192	2		0	0	0	0	193	2	-2.630091	1	1	0	0		1	0	0	0	2.108370	0	0.560000	1.800000	0.557522	0.070000	3.000000e-02	0.150000	0.080000	0.087379	0.070000	0	0.050000	0.120000
FNDC3B	64778	broad.mit.edu	37	3	172096148	172096148	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr3:172096148G>A	ENST00000336824.4	+	24	3196	c.3097G>A	c.(3097-3099)Gca>Aca	p.A1033T	FNDC3B_ENST00000415807.2_Missense_Mutation_p.A1033T|FNDC3B_ENST00000416957.1_Missense_Mutation_p.A1033T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B			69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		AATCCAGGCAGCAAGCGAGGC	0.483000																								0							SO:0001583	missense			ENST00000336824.4	0	1	hg19	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830279	0.50845	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57273	0.41;0.41;0.41	5.26	4.37	0.52481	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215889	0.47852	N	0.000204	T	0.27629	0.0679	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05241	-1.0897	10	0.23302	T	0.38	-5.2768	12.8682	0.57951	0.0801:0.0:0.9199:0.0	.	1033	Q53EP0	FND3B_HUMAN	T	1033	ENSP00000411242:A1033T;ENSP00000338523:A1033T;ENSP00000389094:A1033T	ENSP00000338523:A1033T	A	+	1	0	FNDC3B	173578842	0.862000	0.29867	0.667000	0.29798	0.980000	0.70556	1.874000	0.39568	1.183000	0.42943	0.655000	0.94253	GCA		TCGA-IB-AAUN-01A-12D-A38G-08	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	0	0	0	4	223	0	100	0	5.539570e-01	0	92	0	100	2		0	0	0	0	0	2	1	0.883641	4	216	0	98	2		0	0	0	0	100	2	-3.057399	1	1	121412	1	28	1	0	0	0	2.118878	0	0.560000	1.800000	0.560000	0.060000	1.000000e-02	0.150000	0.060000	0.077647	0.060000	0	0.030000	0.110000
UGT8	7368	broad.mit.edu	37	4	115597336	115597336	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:115597336G>A	ENST00000310836.6	+	6	2040	c.1518G>A	c.(1516-1518)ctG>ctA	p.L506L	UGT8_ENST00000394511.3_Silent_p.L506L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8			31		Ovarian(17;0.156)			TCAAAAGTCTGTGGTCTAGAA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000310836.6	1	1	hg19	CCDS3705.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	1	0	1	65	305	0	190	1	8.250520e-01	4	13	0	190	2		0	0	0	0	0	2	1	1.000000	63	298	0	189	2		0	0	0	0	190	2	-20.000000	1	1	0	0		1	1	2	3	2.131604	0	0.560000	1.800000	0.561229	0.620000	4.900000e-01	0.780000	0.630000	0.634075	0.620000	0	0.550000	0.700000
FAT4	79633	broad.mit.edu	37	4	126372375	126372375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:126372375C>T	ENST00000394329.3	+	9	10217	c.10204C>T	c.(10204-10206)Ccc>Tcc	p.P3402S	FAT4_ENST00000335110.5_Missense_Mutation_p.P1700S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					AAATGACCCACCCATTTTTAC	0.458000																								0							SO:0001583	missense			ENST00000394329.3	0	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665933	0.67700	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.84800	-1.9;-1.9	5.14	5.14	0.70334	Cadherin (3);Cadherin-like (1);	0.000000	0.34362	U	0.004026	D	0.95500	0.8538	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.97;0.998	D	0.97250	0.9897	10	0.87932	D	0	.	18.629	0.91352	0.0:1.0:0.0:0.0	.	1700;3402;3402	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	3402;1700	ENSP00000377862:P3402S;ENSP00000335169:P1700S	ENSP00000335169:P1700S	P	+	1	0	FAT4	126591825	1.000000	0.71417	0.944000	0.38274	0.741000	0.42261	7.662000	0.83803	2.392000	0.81423	0.561000	0.74099	CCC		TCGA-IB-AAUN-01A-12D-A38G-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	0	0	12	620	0	329	0	4.311475e-03	0	5	0	329	2		0	0	0	0	0	2	1	0.999015	12	608	0	328	2		0	0	0	0	329	2	-2.905452	1	1	0	0		1	1	2	3	2.131604	0	0.560000	1.800000	0.561229	0.060000	2.000000e-02	0.120000	0.070000	0.073339	0.060000	0	0.040000	0.090000
SLC12A7	10723	broad.mit.edu	37	5	1064314	1064314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:1064314C>T	ENST00000264930.5	-	19	2534	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7			32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)	Potassium Chloride(DB00761)	AACGAGTCGACGTTCTTGGCC	0.677000																								0							SO:0001583	missense			ENST00000264930.5	1	1	hg19	CCDS34129.1	2|2	9.157509157509158E-4|9.157509157509158E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	0.018|0.018	-1.479004|-1.479004	0.01035|0.01035	2.28E-4|2.28E-4	0.0|0.0	ENSG00000113504|ENSG00000113504	ENST00000513223|ENST00000264930	.|D	.|0.86432	.|-2.12	4.26|4.26	-0.302|-0.302	0.12796|0.12796	.|.	.|0.562347	.|0.17891	.|N	.|0.158521	T|T	0.61324|0.61324	0.2338|0.2338	N|N	0.02286|0.02286	-0.61|-0.61	0.28050|0.28050	N|N	0.933393|0.933393	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.55885|0.55885	-0.8070|-0.8070	5|10	.|0.02654	.|T	.|1	.|.	7.5601|7.5601	0.27847|0.27847	0.0:0.37:0.0:0.63|0.0:0.37:0.0:0.63	.|.	.|831	.|Q9Y666	.|S12A7_HUMAN	H|I	188|831	.|ENSP00000264930:V831I	.|ENSP00000264930:V831I	R|V	-|-	2|1	0|0	SLC12A7|SLC12A7	1117314|1117314	0.943000|0.943000	0.32029|0.32029	0.959000|0.959000	0.39883|0.39883	0.022000|0.022000	0.10575|0.10575	0.148000|0.148000	0.16224|0.16224	0.072000|0.072000	0.16694|0.16694	-0.657000|-0.657000	0.03884|0.03884	CGT|GTC		TCGA-IB-AAUN-01A-12D-A38G-08	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	1	0	0	43	113	0	102	1	1	47	49	0	102	2		0	0	0	0	0	2	1	1.000000	41	109	0	99	2		0	0	0	0	102	2	-20.000000	1	1	120850	4	35	1	1	2	3	2.129760	0	0.560000	1.800000	0.561229	0.980000	7.400000e-01	1.000000	1.000000	0.945383	0.980000	1	0.860000	1.000000
PCDHA1	56147	broad.mit.edu	37	5	140167552	140167552	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:140167552C>T	ENST00000504120.2	+	1	1677	c.1677C>T	c.(1675-1677)aaC>aaT	p.N559N	PCDHA1_ENST00000378133.3_Silent_p.N559N|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1			70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGGACGAGAACGACAACGCGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000504120.2	1	1	hg19	CCDS54913.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	1	0	1	147	405	0	285		0	0	0	0	285	2		0	0	0	0	0	2	1	1.000000	143	394	1	294	9		0	0	0	0	285	2	-20.000000	1	1	0	0		1	1	2	3	2.131117	0	0.560000	1.800000	0.561229	0.940000	8.200000e-01	1.000000	1.000000	0.944873	0.940000	1	0.880000	1.000000
FGF18	8817	broad.mit.edu	37	5	170876235	170876235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:170876235G>A	ENST00000274625.5	+	4	879	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18			9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		TGCATGAACCGCAAAGGCAAG	0.567000																								0							SO:0001583	missense			ENST00000274625.5	0	1	hg19	CCDS4378.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	21.3	4.124259	0.77436	.	.	ENSG00000156427	ENST00000274625	D	0.89343	-2.5	4.08	3.19	0.36642	.	0.556585	0.16736	U	0.201631	D	0.90769	0.7102	M	0.77820	2.39	0.25546	N	0.987134	D	0.55605	0.972	P	0.53809	0.735	T	0.83312	-0.0022	10	0.72032	D	0.01	-2.8976	6.6409	0.22909	0.0934:0.0:0.7276:0.1789	.	112	O76093	FGF18_HUMAN	H	112	ENSP00000274625:R112H	ENSP00000274625:R112H	R	+	2	0	FGF18	170808840	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	4.443000	0.59994	0.688000	0.31529	0.450000	0.29827	CGC		TCGA-IB-AAUN-01A-12D-A38G-08	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	0	0	0	5	291	0	156	0	8.999583e-03	0	7	0	156	2		0	0	0	0	0	2	1	0.933476	5	284	0	154	2		0	0	0	0	156	2	-2.293342	0	1	121412	3	36	1	1	2	3	2.131117	0	0.560000	1.800000	0.561229	0.060000	1.000000e-02	0.140000	0.060000	0.071914	0.060000	0	0.030000	0.100000
ITGA2	3673	broad.mit.edu	37	5	52360796	52360796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:52360796C>T	ENST00000296585.5	+	14	1800	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)			47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)			TGAAAACACTCGATTTGGTTC	0.423000																								0							SO:0001587	stop_gained			ENST00000296585.5	0	1	hg19	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	38	6.920610	0.97936	.	.	ENSG00000164171	ENST00000296585	.	.	.	5.67	2.83	0.33086	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0088	0.71533	0.3736:0.6264:0.0:0.0	.	.	.	.	X	553	.	ENSP00000296585:R553X	R	+	1	2	ITGA2	52396553	0.972000	0.33761	0.988000	0.46212	0.995000	0.86356	2.181000	0.42547	0.371000	0.24564	0.655000	0.94253	CGA		TCGA-IB-AAUN-01A-12D-A38G-08	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	1	0	1	135	402	0	282	0	9.991600e-01	1	33	0	282	2		0	0	0	0	0	2	1	1.000000	135	394	0	275	2		0	0	0	0	282	2	-20.000000	1	1	0	0		1	1	2	3	2.129760	0	0.560000	1.800000	0.561229	0.890000	7.600000e-01	1.000000	1.000000	0.899938	0.890000	1	0.830000	0.970000
MAPK13	5603	broad.mit.edu	37	6	36106684	36106684	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:36106684G>C	ENST00000211287.4	+	11	1132	c.870G>C	c.(868-870)gaG>gaC	p.E290D	MAPK13_ENST00000373766.5_Missense_Mutation_p.A240P|MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.E280D|Z95152.1_ENST00000408816.1_RNA	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13			12					AGATGCTGGAGCTAGACGTGG	0.667000																								0							SO:0001583	missense			ENST00000211287.4	1	1	hg19	CCDS4818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.12|13.12	2.143296|2.143296	0.37825|0.37825	.|.	.|.	ENSG00000156711|ENSG00000156711	ENST00000373766|ENST00000373761;ENST00000211287;ENST00000373770	T|T;T	0.66995|0.65364	-0.24|-0.15;-0.15	5.25|5.25	3.47|3.47	0.39725|0.39725	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.105229	.|0.41605	.|D	.|0.000844	T|T	0.29684|0.29684	0.0741|0.0741	L|L	0.33245|0.33245	0.995|0.995	0.23632|0.23632	N|N	0.997245|0.997245	.|B	.|0.09022	.|0.002	.|B	.|0.09377	.|0.004	T|T	0.21827|0.21827	-1.0234|-1.0234	7|10	0.72032|0.42905	D|T	0.01|0.14	-45.63|-45.63	11.297|11.297	0.49284|0.49284	0.1481:0.0:0.8519:0.0|0.1481:0.0:0.8519:0.0	.|.	.|290	.|O15264	.|MK13_HUMAN	P|D	240|280;290;235	ENSP00000362871:A240P|ENSP00000362866:E280D;ENSP00000211287:E290D	ENSP00000362871:A240P|ENSP00000211287:E290D	A|E	+|+	1|3	0|2	MAPK13|MAPK13	36214662|36214662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.831000|0.831000	0.47069|0.47069	1.350000|1.350000	0.34010|0.34010	0.605000|0.605000	0.29947|0.29947	0.484000|0.484000	0.47621|0.47621	GCT|GAG		TCGA-IB-AAUN-01A-12D-A38G-08	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1	1	0	1	45	112	0	84	1	1	26	107	0	84	2		0	0	0	0	0	2	1	1.000000	45	110	0	83	2		0	0	0	0	84	2	-20.000000	1	1	0	0		1	0	1	1	2.114030	0	0.560000	1.800000	0.558765	0.990000	7.700000e-01	1.000000	1.000000	0.961069	0.990000	1	0.890000	1.000000
HOXA3	3200	broad.mit.edu	37	7	27148046	27148046	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr7:27148046C>T	ENST00000396352.4	-	3	1019	c.820G>A	c.(820-822)Ggt>Agt	p.G274S	HOXA3_ENST00000317201.2_Missense_Mutation_p.G274S|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3			29					AGATAGCCACCGGCTCCGGGG	0.627000													Esophageal Squamous(136;1368 1743 5685 7935 50360)											0							SO:0001583	missense			ENST00000396352.4	1	1	hg19	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340433	0.41498	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.86297	-2.1;-2.1	5.41	5.41	0.78517	.	0.047410	0.85682	D	0.000000	D	0.91955	0.7452	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90337	0.4356	10	0.33940	T	0.23	.	19.215	0.93772	0.0:1.0:0.0:0.0	.	274	O43365	HXA3_HUMAN	S	274;274;116	ENSP00000379640:G274S;ENSP00000324884:G274S	ENSP00000324884:G274S	G	-	1	0	HOXA3	27114571	1.000000	0.71417	0.432000	0.26747	0.546000	0.35178	6.089000	0.71384	2.539000	0.85634	0.655000	0.94253	GGT		TCGA-IB-AAUN-01A-12D-A38G-08	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2	0	0	0	84	283	1	193	0	8.326117e-01	1	12	1	193	2		0	0	0	0	0	2	1	1.000000	82	270	1	190	9		0	0	0	1	193	2	-4.020497	1	1	0	0		1	0	0	0	2.116104	0	0.560000	1.800000	0.560000	0.810000	6.600000e-01	0.970000	0.820000	0.820510	0.810000	0	0.730000	0.900000
KCNQ3	3786	broad.mit.edu	37	8	133141815	133141815	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:133141815C>T	ENST00000388996.4	-	15	2733	c.2313G>A	c.(2311-2313)tcG>tcA	p.S771S	KCNQ3_ENST00000521134.1_Silent_p.S651S|KCNQ3_ENST00000519445.1_Silent_p.S759S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3			70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGATTCGGTCCGAGTAGGGGC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000388996.4	0	1	hg19	CCDS34943.1																																																																																				TCGA-IB-AAUN-01A-12D-A38G-08	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	0	0	0	5	185	0	92	0	3.306781e-03	0	3	0	92	2		0	0	0	0	0	2	1	0.934835	5	181	0	92	2		0	0	0	0	92	2	-6.791372	1	1	121412	3	32	1	1	2	3	2.641472	1	0.560000	1.800000	0.650127	0.130000	4.000000e-02	1.000000	0.120000	0.195299	0.130000	0	0.080000	0.220000
SCARA5	286133	broad.mit.edu	37	8	27737142	27737142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:27737142C>T	ENST00000354914.3	-	8	1780	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R207H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5			18		Ovarian(32;0.0218)			GCCGAGCATGCGGCACACCAC	0.642000																								0							SO:0001583	missense			ENST00000354914.3	0	1	hg19	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480662	0.63849	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.42900	0.96;0.96	4.87	3.99	0.46301	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.063343	0.64402	N	0.000010	T	0.48804	0.1520	M	0.88241	2.94	0.80722	D	1	B;B	0.25206	0.012;0.12	B;B	0.19946	0.008;0.027	T	0.54417	-0.8297	10	0.66056	D	0.02	.	11.0431	0.47842	0.0:0.907:0.0:0.093	.	207;432	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	H	432;207	ENSP00000346990:R432H;ENSP00000369746:R207H	ENSP00000346990:R432H	R	-	2	0	SCARA5	27793061	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.882000	0.63121	1.170000	0.42753	0.591000	0.81541	CGC		TCGA-IB-AAUN-01A-12D-A38G-08	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	0	0	0	5	277	0	171	0	0	0	1	0	171	2		0	0	0	0	0	2	1	0.936322	4	273	0	169	2		0	0	0	0	171	2	-2.163064	0	1	0	0		1	0	1	1	1.575933	1	0.560000	1.800000	0.391256	0.040000	1.000000e-02	0.100000	0.050000	0.054242	0.040000	0	0.020000	0.070000
UNC5D	137970	broad.mit.edu	37	8	35608224	35608224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:35608224C>T	ENST00000404895.2	+	13	2388	c.2060C>T	c.(2059-2061)gCc>gTc	p.A687V	UNC5D_ENST00000287272.2_Missense_Mutation_p.A618V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A263V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A682V|UNC5D_ENST00000416672.1_Missense_Mutation_p.A692V|UNC5D_ENST00000420357.1_Missense_Mutation_p.A620V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	p.A682V(1)		112					ACAGACTGTGCCGTGAAGCAA	0.502000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000404895.2	0	1	hg19	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	35	5.426783	0.96131	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.60299	0.23;0.64;0.63;0.23;0.2;2.1	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.83483	2.645	0.80722	D	1	D;P;P	0.56035	0.974;0.911;0.914	P;P;B	0.50490	0.638;0.642;0.439	T	0.76817	-0.2819	10	0.87932	D	0	-23.3889	20.2822	0.98520	0.0:1.0:0.0:0.0	.	263;682;687	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	687;620;618;692;682;263	ENSP00000385143:A687V;ENSP00000392739:A620V;ENSP00000287272:A618V;ENSP00000412652:A692V;ENSP00000394303:A682V;ENSP00000397211:A263V	ENSP00000287272:A618V	A	+	2	0	UNC5D	35727766	1.000000	0.71417	0.987000	0.45799	0.959000	0.62525	5.359000	0.66074	2.806000	0.96561	0.655000	0.94253	GCC		TCGA-IB-AAUN-01A-12D-A38G-08	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2	0	0	0	5	399	0	297		0	0	0	0	297	2		0	0	0	0	0	2	1	0.932385	5	386	0	296	2		0	0	0	0	297	2	-1.885794	0	1	0	0		1	0	1	1	1.575933	1	0.560000	1.800000	0.391256	0.030000	0	0.070000	0.030000	0.038005	0.030000	0	0.010000	0.050000
ODF2	4957	broad.mit.edu	37	9	131245096	131245096	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:131245096G>A	ENST00000434106.3	+	10	1280	c.917G>A	c.(916-918)cGc>cAc	p.R306H	ODF2_ENST00000351030.3_Splice_Site_p.R301H|ODF2_ENST00000546203.1_Splice_Site_p.R287H|ODF2_ENST00000444119.2_Splice_Site_p.R282H|ODF2_ENST00000393527.3_Splice_Site_p.R282H|ODF2_ENST00000604420.1_Splice_Site_p.R306H|ODF2_ENST00000448249.3_Splice_Site_p.R225H|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000372791.3_Splice_Site_p.R287H|ODF2_ENST00000372807.5_Splice_Site_p.R301H|ODF2_ENST00000393533.2_Splice_Site_p.R306H|ODF2_ENST00000372814.3_Splice_Site_p.R350H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2			37					CTCTCCCAGCGCCTGCTGTTA	0.522000																								0							SO:0001630	splice_region_variant			ENST00000434106.3	0	1	hg19	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854984	0.32791	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;1.87;0.93;0.93;0.93	5.66	2.68	0.31781	.	0.552387	0.21440	N	0.074507	T	0.20333	0.0489	N	0.17474	0.49	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.27316	0.025;0.006;0.115;0.003;0.175;0.066;0.01;0.025;0.024;0.017	B;B;B;B;B;B;B;B;B;B	0.12837	0.002;0.003;0.006;0.002;0.004;0.008;0.004;0.002;0.004;0.003	T	0.05920	-1.0856	10	0.34782	T	0.22	-7.0512	3.5239	0.07752	0.3275:0.0:0.5038:0.1688	.	287;301;225;240;306;350;301;287;306;282	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	H	306;350;301;306;282;225;287;287	ENSP00000377166:R306H;ENSP00000361901:R350H;ENSP00000342581:R301H;ENSP00000361882:R306H;ENSP00000307781:R282H;ENSP00000396687:R225H;ENSP00000437579:R287H;ENSP00000361877:R287H	ENSP00000307781:R282H	R	+	2	0	ODF2	130284917	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.513000	0.45494	0.750000	0.32877	0.561000	0.74099	CGC		TCGA-IB-AAUN-01A-12D-A38G-08	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3	0	0	0	4	172	0	95	0	1.987764e-01	0	29	0	95	2		0	0	0	0	0	2	1	0.887246	4	169	0	94	2		0	0	0	0	95	2	-5.792634	1	0	121412	7	37	1	1	2	3	2.132803	0	0.560000	1.800000	0.561229	0.080000	2.000000e-02	0.200000	0.080000	0.100145	0.080000	0	0.050000	0.140000
KDM4C	23081	broad.mit.edu	37	9	6990510	6990510	+	Missense_Mutation	SNP	C	C	T	rs151291155	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:6990510C>T	ENST00000381309.3	+	12	2337	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	KDM4C_ENST00000536108.1_Missense_Mutation_p.A410V|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.A591V|KDM4C_ENST00000535193.1_Missense_Mutation_p.A613V|KDM4C_ENST00000543771.1_Missense_Mutation_p.A591V|KDM4C_ENST00000428870.2_Missense_Mutation_p.A278V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C			43					AAGCAGCAGGCGCCAAGTGAT	0.408000																								0							SO:0001583	missense			ENST00000381309.3	1	1	hg19	CCDS6471.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.18	2.159146	0.38119	2.27E-4	2.33E-4	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000536108;ENST00000428870	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	4.8	2.93	0.34026	.	0.294931	0.36703	N	0.002452	T	0.31040	0.0784	L	0.35414	1.06	0.44366	D	0.997269	B;B;B;B	0.29627	0.043;0.252;0.026;0.077	B;B;B;B	0.21151	0.012;0.033;0.013;0.024	T	0.06127	-1.0844	10	0.30078	T	0.28	-39.5448	8.6521	0.34040	0.0:0.8202:0.0:0.1798	.	591;613;591;591	F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;KDM4C_HUMAN;.	V	613;591;591;591;410;278	ENSP00000442382:A613V;ENSP00000445427:A591V;ENSP00000370710:A591V;ENSP00000370707:A591V;ENSP00000440656:A410V;ENSP00000405739:A278V	ENSP00000370707:A591V	A	+	2	0	KDM4C	6980510	0.990000	0.36364	0.839000	0.33178	0.756000	0.42949	2.883000	0.48554	0.600000	0.29862	0.557000	0.71058	GCG		TCGA-IB-AAUN-01A-12D-A38G-08	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	1	0	1	44	73	0	68	1	9.961661e-01	2	16	0	68	2		0	0	0	0	0	2	1	1.000000	43	71	0	66	2		0	0	0	0	68	2	-3.318795	1	1	121398	23	45	1	0	0	0	2.121522	0	0.560000	1.800000	0.560000	0.990000	9.900000e-01	1.000000	1.000000	0.999402	0.990000	1	0.990000	1.000000
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4			13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)			AGGGGGTATGCGCGGCAGAGG	0.483000																								0							SO:0001583	missense			ENST00000375249.4	0	1	hg19	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837388	0.50951	.	.	ENSG00000130956	ENST00000375249	T	0.37752	1.18	4.86	2.77	0.32553	.	0.269438	0.30538	N	0.009418	T	0.42381	0.1200	L	0.43923	1.385	0.49213	D	0.999769	D	0.71674	0.998	P	0.53185	0.72	T	0.40515	-0.9559	10	0.72032	D	0.01	-7.7391	14.0166	0.64527	0.4686:0.5314:0.0:0.0	.	193	Q5JVS0	HABP4_HUMAN	C	193	ENSP00000364398:R193C	ENSP00000364398:R193C	R	+	1	0	HABP4	98267504	1.000000	0.71417	0.350000	0.25708	0.389000	0.30415	1.202000	0.32271	0.558000	0.29135	0.644000	0.83932	CGC		TCGA-IB-AAUN-01A-12D-A38G-08	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	0	0	0	6	443	1	193	0	3.750624e-02	1	43	1	193	3		0	0	0	0	0	2	0	0.215731	6	436	1	192	10		0	0	0	1	193	2	-1.649228	0	1	121412	3	38	1	1	2	3	2.124566	0	0.560000	1.800000	0.561229	0.040000	1.000000e-02	0.110000	0.050000	0.055506	0.040000	0	0.020000	0.080000
ATRX	546	broad.mit.edu	37	X	76938955	76938955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chrX:76938955G>A	ENST00000373344.5	-	9	2007	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	ATRX_ENST00000395603.3_Missense_Mutation_p.S560F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	p.?(1)		145					TTTAATTGGGGAATTAGAAAG	0.358000			Mis, F, N		Pancreatic neuroendocrine tumors, paediatric GBM		ATR-X (alpha thalassemia/mental retardation) syndrome								Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)						SO:0001583	missense			ENST00000373344.5	1	1	hg19	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	12.65	2.001168	0.35320	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93019	-3.13;-3.15	5.22	5.22	0.72569	.	0.000000	0.52532	D	0.000066	D	0.95774	0.8625	L	0.53249	1.67	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.78314	0.939;0.991	D	0.96302	0.9222	10	0.72032	D	0.01	-2.9111	17.9679	0.89105	0.0:0.0:1.0:0.0	.	560;598	P46100-4;P46100	.;ATRX_HUMAN	F	598;560	ENSP00000362441:S598F;ENSP00000378967:S560F	ENSP00000362441:S598F	S	-	2	0	ATRX	76825611	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	4.326000	0.59241	2.177000	0.69029	0.509000	0.49947	TCC		TCGA-IB-AAUN-01A-12D-A38G-08	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	1	0	1	495	1387	1	896	0	9.813111e-01	0	20	1	896	2		0	0	0	0	0	2	1	1.000000	488	1363	2	888	13		0	0	0	1	896	2	-20.000000	1	1	0	0		1	0	1	1			0.560000	1.800000	0.560000	0.930000	8.600000e-01	1.000000	0.940000	0.938995	0.930000	1	0.890000	0.980000
