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
KCNMA1	3778	broad.mit.edu	37	10	78868281	78868281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:78868281C>T	ENST00000286628.8	-	9	1180	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	KCNMA1_ENST00000406533.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R394H	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1			68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)	Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GTATTTCTTGCGGTTTCCTAT	0.468000																								0							SO:0001583	missense			ENST00000286628.8	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.003054|5.003054	0.93287|0.93287	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.86366	.|-2.1;-2.07;-2.08;-2.09;-2.1;-2.1;-2.1;-2.11;-2.09	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92805|0.92805	0.7712|0.7712	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P;P	.|0.89917	.|1.0;0.979;0.988;1.0;0.988;0.911;0.895	.|D;B;P;D;P;P;B	.|0.91635	.|0.999;0.372;0.674;0.991;0.576;0.557;0.372	D|D	0.92656|0.92656	0.6137|0.6137	5|10	.|0.87932	.|D	.|0	-11.5534|-11.5534	20.3248|20.3248	0.98698|0.98698	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|394;394;394;394;394;176;394	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.	T|H	345|394;331;329;368;331;394;394;368;394;394;394;176	.|ENSP00000361517:R394H;ENSP00000361485:R331H;ENSP00000361514:R329H;ENSP00000396608:R368H;ENSP00000361520:R394H;ENSP00000286627:R394H;ENSP00000385552:R394H;ENSP00000346321:R394H;ENSP00000385806:R394H	.|ENSP00000286627:R394H	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78538287|78538287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.463000|7.463000	0.80869|0.80869	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	GCA|CGC		TCGA-IB-AAUS-01A-12D-A38G-08	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	0	0	0	6	466	0	159	0	1.691070e-02	0	13	0	159	2		0	0	0	0	0	2	1	0.962554	6	455	0	157	2		0	0	0	0	159	2	-1.966028	0	1	0	0		1	1	2	3	2.001266	0	0.130000	2	0.134501	0.210000	0.080000	1.000000	0.190000	0.275118	0.210000	0	0.140000	0.340000
HECTD2	143279	broad.mit.edu	37	10	93261004	93261004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:93261004A>G	ENST00000298068.5	+	20	2217	c.2123A>G	c.(2122-2124)cAt>cGt	p.H708R	HECTD2_ENST00000371667.1_Missense_Mutation_p.H358R|HECTD2_ENST00000536715.1_Missense_Mutation_p.H297R|HECTD2_ENST00000446394.1_Missense_Mutation_p.H712R	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2			27					AAGTTGCTACATTTTACTACA	0.353000													NSCLC(12;376 469 1699 39910 41417)											0							SO:0001583	missense			ENST00000298068.5	1	1	hg19	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198465	0.38806	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.73	5.73	0.89815	HECT (4);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	N	0.02181	-0.65	0.54753	D	0.999988	B;B	0.17667	0.001;0.023	B;B	0.15870	0.002;0.014	T	0.24368	-1.0162	10	0.07030	T	0.85	.	14.5862	0.68326	1.0:0.0:0.0:0.0	.	712;708	E7ERR3;Q5U5R9	.;HECD2_HUMAN	R	712;708;297;358	ENSP00000401023:H712R;ENSP00000298068:H708R;ENSP00000439687:H297R;ENSP00000360731:H358R	ENSP00000298068:H708R	H	+	2	0	HECTD2	93250984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.837000	0.75354	2.180000	0.69256	0.533000	0.62120	CAT		TCGA-IB-AAUS-01A-12D-A38G-08	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1	0	0	0	13	397	0	134	0	1.378633e-01	0	19	0	134	2		0	0	0	0	0	2	1	0.999504	13	391	0	132	2		0	0	0	0	134	2	-13.088010	1	1	0	0		1	1	2	3	2.001266	0	0.130000	2	0.134501	0.510000	0.280000	1.000000	0.490000	0.548231	0.510000	0	0.380000	0.690000
CRY2	1408	broad.mit.edu	37	11	45891310	45891310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:45891310C>T	ENST00000443527.2	+	7	1221	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V	CRY2_ENST00000417225.2_Missense_Mutation_p.A318V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	p.A379V(1)		15					GCCCGGCATGCCGTGGCCTGC	0.642000													Esophageal Squamous(106;91 1499 8126 12599 39610)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000443527.2	0	1	hg19	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	35	5.453480	0.96223	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.99	5.99	0.97316	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	L	0.33668	1.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74023	0.949;0.97;0.982	T	0.59500	-0.7443	9	0.22706	T	0.39	-11.3444	20.4777	0.99188	0.0:1.0:0.0:0.0	.	379;400;318	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	V	318;400	.	ENSP00000397419:A318V	A	+	2	0	CRY2	45847886	1.000000	0.71417	0.956000	0.39512	0.880000	0.50808	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	GCC		TCGA-IB-AAUS-01A-12D-A38G-08	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	0	0	0	4	228	0	83	0	1.774542e-01	0	35	0	83	2		0	0	0	0	0	2	1	0.888060	4	225	0	83	2		0	0	0	0	83	2	-2.692635	1	1	0	0		1	1	2	3	2.013696	0	0.130000	2	0.137290	0.310000	0.100000	1.000000	0.270000	0.393147	0.310000	0	0.180000	0.560000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	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	0	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-AAUS-01A-12D-A38G-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	0	6	320	0	108	1	5.405970e-02	2	15	0	108	2	1	9.844467e-01	7	407	0	392	2	1	0.963290	6	314	0	108	2	1	1	96	7936	0	108	2	-3.383353	1	1	121404	2	44	1	1	2	3	2.004431	0	0.130000	2	0.135060	0.310000	0.120000	1.000000	0.270000	0.372955	0.310000	0	0.200000	0.490000
TGM1	7051	broad.mit.edu	37	14	24724342	24724342	+	Missense_Mutation	SNP	G	G	A	rs143322085		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:24724342G>A	ENST00000206765.6	-	12	1886	c.1763C>T	c.(1762-1764)gCg>gTg	p.A588V	TGM1_ENST00000544573.1_Missense_Mutation_p.A146V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1			24				L-Glutamine(DB00130)	CCCCATCACCGCGTCCTGTGC	0.577000																								0							SO:0001583	missense			ENST00000206765.6	0	1	hg19	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253753	0.22965	0.0	2.33E-4	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.70399	-0.48;-0.48	5.18	4.28	0.50868	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.572364	0.18241	N	0.147251	T	0.60196	0.2250	L	0.43152	1.355	0.37256	D	0.906752	B	0.11235	0.004	B	0.10450	0.005	T	0.59059	-0.7525	10	0.32370	T	0.25	-16.2109	8.7813	0.34794	0.0819:0.1506:0.7675:0.0	.	588	P22735	TGM1_HUMAN	V	588;146	ENSP00000206765:A588V;ENSP00000439446:A146V	ENSP00000206765:A588V	A	-	2	0	TGM1	23794182	0.226000	0.23696	0.657000	0.29651	0.111000	0.19643	2.213000	0.42844	1.402000	0.46780	0.655000	0.94253	GCG		TCGA-IB-AAUS-01A-12D-A38G-08	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	0	0	0	7	310	0	141	0	9.734137e-03	1	5	0	141	2	0	0	0	1	0	0	2	1	0.978589	7	300	0	141	2		0	0	0	0	141	2	-3.097685	1	1	121410	11	43	1	1	2	3	2.005600	0	0.130000	2	0.135618	0.370000	0.160000	1.000000	0.340000	0.430643	0.370000	0	0.250000	0.570000
ARHGAP5	394	broad.mit.edu	37	14	32559928	32559928	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:32559928T>A	ENST00000345122.3	+	2	368	c.53T>A	c.(52-54)gTt>gAt	p.V18D	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V18D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V18D	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5			55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)		ATCAGTATAGTTGGACTCTCT	0.393000													NSCLC(9;77 350 3443 29227 41353)											0							SO:0001583	missense			ENST00000345122.3	0	1	hg19	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770967	0.90108	.	.	ENSG00000100852	ENST00000555814;ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T;T	0.66280	-0.2;1.98;1.98;1.98;1.98;0.25	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.83334	-0.0011	10	0.87932	D	0	.	15.4475	0.75243	0.0:0.0:0.0:1.0	.	18;18	Q13017-2;Q13017	.;RHG05_HUMAN	D	18	ENSP00000452372:V18D;ENSP00000452222:V18D;ENSP00000441692:V18D;ENSP00000371897:V18D;ENSP00000393307:V18D;ENSP00000451579:V18D	ENSP00000371897:V18D	V	+	2	0	ARHGAP5	31629679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.098000	0.63641	0.528000	0.53228	GTT		TCGA-IB-AAUS-01A-12D-A38G-08	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	0	0	0	9	454	0	179	1	7.761773e-02	2	19	0	179	2		0	0	0	0	0	2	1	0.994023	9	449	0	178	2		0	0	0	0	179	2	-8.103605	1	1	0	0		1	1	2	3	2.005600	0	0.130000	2	0.135618	0.320000	0.150000	1.000000	0.300000	0.382758	0.320000	0	0.220000	0.480000
GPHB5	122876	broad.mit.edu	37	14	63784429	63784429	+	RNA	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:63784429G>A	ENST00000539258.1	-	0	191							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5			7					CTGGCTTCTTGGCCAGGAAAG	0.607000																								0											ENST00000539258.1	0	1	hg19																																																																																					TCGA-IB-AAUS-01A-12D-A38G-08	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	0	0	0	6	213	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	0.963044	5	210	0	80	2		0	0	0	0	81	2	-7.720320	1	1	0	0		1	1	2	3	2.005600	0	0.130000	2	0.135618	0.460000	0.190000	1.000000	0.400000	0.517946	0.460000	0	0.300000	0.730000
ARHGAP17	55114	broad.mit.edu	37	16	24971282	24971282	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:24971282T>G	ENST00000289968.6	-	8	661	c.592A>C	c.(592-594)Atg>Ctg	p.M198L	ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M198L|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M198L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17			30					AAGTTGTACATGTCTGCTGCA	0.383000																								0							SO:0001583	missense			ENST00000289968.6	0	1	hg19	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	T	7.735	0.700058	0.15106	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.50277	0.75;0.75;0.75	5.67	5.67	0.87782	BAR (3);	0.000000	0.52532	D	0.000072	T	0.41673	0.1169	L	0.42581	1.335	0.43632	D	0.996021	B;B;B;B	0.22080	0.015;0.064;0.008;0.064	B;B;B;B	0.24701	0.011;0.055;0.015;0.055	T	0.23084	-1.0198	10	0.25751	T	0.34	.	13.8404	0.63435	0.0:0.0:0.0:1.0	.	198;198;198;198	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	L	198	ENSP00000289968:M198L;ENSP00000303130:M198L;ENSP00000406950:M198L	ENSP00000289968:M198L	M	-	1	0	ARHGAP17	24878783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.068000	0.50018	2.153000	0.67306	0.477000	0.44152	ATG		TCGA-IB-AAUS-01A-12D-A38G-08	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	0	0	0	8	525	0	182	0	1.726600e-01	1	43	0	182	2		0	0	0	0	0	2	1	0.988528	8	514	0	182	2		0	0	0	0	182	2	-3.327657	1	1	0	0		1	1	2	3	2.025108	0	0.130000	2	0.139508	0.260000	0.110000	1.000000	0.240000	0.356881	0.260000	0	0.170000	0.440000
SLC38A8	146167	broad.mit.edu	37	16	84050178	84050178	+	Missense_Mutation	SNP	C	C	T	rs149742482	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:84050178C>T	ENST00000299709.3	-	8	1107	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8			26					CTGACGATCTCGCTGAGGTCA	0.607000																								0							SO:0001583	missense			ENST00000299709.3	1	1	hg19	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.414452	0.01145	0.0	2.33E-4	ENSG00000166558	ENST00000299709	T	0.02067	4.47	4.47	-1.14	0.09741	.	0.554792	0.19437	N	0.114283	T	0.01092	0.0036	N	0.14661	0.345	0.36854	D	0.88807	B	0.23540	0.087	B	0.21360	0.034	T	0.49934	-0.8886	10	0.05833	T	0.94	.	5.3489	0.16024	0.0:0.4325:0.1427:0.4248	.	370	A6NNN8	S38A8_HUMAN	K	370	ENSP00000299709:E370K	ENSP00000299709:E370K	E	-	1	0	SLC38A8	82607679	0.135000	0.22499	0.486000	0.27416	0.168000	0.22595	0.078000	0.14761	-0.231000	0.09825	0.478000	0.44815	GAG		TCGA-IB-AAUS-01A-12D-A38G-08	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	1	0	0	11	201	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	0.998293	10	198	0	79	2		0	0	0	0	80	2	-3.030222	1	1	121412	8	42	1	1	2	3	2.020629	0	0.130000	2	0.138401	0.860000	0.440000	1.000000	1.000000	0.828737	0.860000	1	0.620000	1.000000
MAP2K4	6416	broad.mit.edu	37	17	12043158	12043158	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:12043158T>G	ENST00000353533.5	+	10	1106	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	MAP2K4_ENST00000415385.3_Missense_Mutation_p.L359R	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	p.0?(10)|p.?(2)|p.L348R(1)		100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)			TATTTTAGCCTTACGAAGGAT	0.333000			D, Mis, N		pancreatic, breast, colorectal										Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Unknown(2)|Substitution - Missense(1)						SO:0001583	missense			ENST00000353533.5	1	1	hg19	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507873	0.85282	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.34472	1.36;1.36	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.80596	-0.1312	10	0.87932	D	0	.	14.9931	0.71406	0.0:0.0:0.0:1.0	.	220;359;348	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	R	348;359;325;220	ENSP00000262445:L348R;ENSP00000410402:L359R	ENSP00000262445:L348R	L	+	2	0	MAP2K4	11983883	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	CTT		TCGA-IB-AAUS-01A-12D-A38G-08	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	0	0	0	18	584	0	245	1	1.750916e-01	3	21	0	245	2	1	9.997768e-01	9	437	0	478	2	1	0.999979	18	574	0	242	2		0	0	0	0	245	2	-3.368136	1	1	0	0		1	0	1	1	1.998960	0	0.130000	2	0.125452	0.460000	0.280000	0.690000	0.450000	0.475869	0.460000	0	0.360000	0.580000
CACNA1A	773	broad.mit.edu	37	19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000573710.2_Intron|CACNA1A_ENST00000574822.1_5'Flank	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit			42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAAGGCATGCGGCCCCTGGC	0.493000																								0							SO:0001583	missense			ENST00000360228.5	0	1	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.580140	0.86645	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.96459	-4.02	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	D	0.98264	0.9425	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.99581	1.0973	10	0.87932	D	0	.	16.0868	0.81060	0.0:1.0:0.0:0.0	.	1845	Q9NS88	.	H	1845;1851;1846	ENSP00000353362:R1845H	ENSP00000349520:R1846H	R	-	2	0	CACNA1A	13199336	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.079000	0.62486	0.298000	0.19748	CGC		TCGA-IB-AAUS-01A-12D-A38G-08	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	0	0	0	4	222	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	0.885846	4	217	0	93	2		0	0	0	0	95	2	-2.478371	0	1	0	0		1	1	2	3	2.017324	0	0.130000	2	0.137846	0.320000	0.100000	1.000000	0.270000	0.405685	0.320000	0	0.190000	0.590000
NOTCH3	4854	broad.mit.edu	37	19	15297738	15297738	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:15297738G>A	ENST00000263388.2	-	12	1977	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3			93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		TGCCATCACGGCAGACTCCAA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000263388.2	0	1	hg19	CCDS12326.1																																																																																				TCGA-IB-AAUS-01A-12D-A38G-08	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	0	0	0	4	229	0	87	0	6.313654e-01	0	112	0	87	2		0	0	0	0	0	2	1	0.885973	4	224	0	87	2		0	0	0	0	87	2	-3.004226	1	1	0	0		1	1	2	3	2.017324	0	0.130000	2	0.137846	0.310000	0.100000	1.000000	0.270000	0.397179	0.310000	0	0.180000	0.580000
PTPRS	5802	broad.mit.edu	37	19	5210482	5210482	+	Missense_Mutation	SNP	G	G	A	rs147647579		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:5210482G>A	ENST00000587303.1	-	34	5584	c.5485C>T	c.(5485-5487)Cgg>Tgg	p.R1829W	PTPRS_ENST00000348075.2_Missense_Mutation_p.R1791W|PTPRS_ENST00000372412.4_Missense_Mutation_p.R1830W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1382W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1829W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1382W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1791W|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1809W			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S			61				Alendronate(DB00630)|Etidronic acid(DB01077)	TCACTCACCCGGGCATCTGTG	0.562000																								0							SO:0001583	missense			ENST00000587303.1	1	1	hg19	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	15.03	2.713599	0.48517	0.0	1.16E-4	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	2.31	-0.225	0.13111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.084158	0.45361	U	0.000376	T	0.37679	0.1012	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.995;1.0;1.0;0.999;0.999	P;P;D;P;D;D	0.91635	0.889;0.634;0.999;0.865;0.912;0.958	T	0.25745	-1.0123	10	0.87932	D	0	.	9.6749	0.40034	0.0:0.0:0.2921:0.7079	.	1411;1382;1386;1791;1829;1424	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	W	1424;1830;1829;1829;1820;1809;1791;1411;1386;1382	ENSP00000361489:R1830W;ENSP00000349932:R1829W;ENSP00000262963:R1809W;ENSP00000269907:R1791W;ENSP00000327313:R1382W	ENSP00000262963:R1809W	R	-	1	2	PTPRS	5161482	1.000000	0.71417	0.995000	0.50966	0.718000	0.41266	1.922000	0.40045	-0.096000	0.12329	0.486000	0.48141	CGG		TCGA-IB-AAUS-01A-12D-A38G-08	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	0	0	0	11	478	0	191	0	4.831822e-01	0	68	0	191	2		0	0	0	0	0	2	1	0.997821	10	455	0	181	2		0	0	0	0	191	2	-2.147304	0	1	121412	1	32	1	1	2	3	2.017324	0	0.130000	2	0.137846	0.370000	0.190000	1.000000	0.350000	0.444376	0.370000	0	0.270000	0.560000
VAV1	7409	broad.mit.edu	37	19	6857088	6857088	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:6857088C>T	ENST00000602142.1	+	27	2590	c.2508C>T	c.(2506-2508)taC>taT	p.Y836Y	VAV1_ENST00000599806.1_Silent_p.Y781Y|VAV1_ENST00000539284.1_Silent_p.Y739Y|VAV1_ENST00000304076.2_Silent_p.Y814Y|VAV1_ENST00000596764.1_Silent_p.Y804Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor			62					CTGCCAACTACGTGGAGGAAG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000602142.1	0	1	hg19	CCDS12174.1																																																																																				TCGA-IB-AAUS-01A-12D-A38G-08	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	0	0	0	5	191	0	76	0	7.226372e-01	1	94	0	76	2		0	0	0	0	0	2	1	0.934047	5	186	0	76	2		0	0	0	0	76	2	-6.635919	1	1	121412	6	38	1	1	2	3	2.017324	0	0.130000	2	0.137846	0.450000	0.160000	1.000000	0.380000	0.515543	0.450000	0	0.280000	0.780000
C19orf45	374877	broad.mit.edu	37	19	7570440	7570440	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:7570440G>A	ENST00000361664.2	+	6	1074	c.933G>A	c.(931-933)tcG>tcA	p.S311S	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45			8					CTCCGGAGTCGCACATCCTGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000361664.2	0	1	hg19	CCDS12179.2																																																																																				TCGA-IB-AAUS-01A-12D-A38G-08	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	0	0	0	6	307	1	145		0	0	0	1	145	2		0	0	0	0	0	2	0	0.216508	6	304	1	143	10		0	0	0	1	145	2	-2.581571	1	1	0	0		1	1	2	3	2.017324	0	0.130000	2	0.137846	0.330000	0.130000	1.000000	0.300000	0.411982	0.330000	0	0.210000	0.560000
CYB561D1	284613	broad.mit.edu	37	1	110038541	110038541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:110038541G>A	ENST00000420578.2	+	3	390	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000528785.1_Missense_Mutation_p.R117H|CYB561D1_ENST00000393709.3_Missense_Mutation_p.R60H|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000369868.3_Missense_Mutation_p.R139H|CYB561D1_ENST00000533024.1_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1			5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)			AGCAGGACCCGCAGTGAGCTG	0.637000																								0							SO:0001583	missense			ENST00000420578.2	0	1	hg19	CCDS800.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047750	0.75846	2.27E-4	0.0	ENSG00000174151	ENST00000393709;ENST00000420578;ENST00000528785;ENST00000369868	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.35	5.35	0.76521	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.254613	0.37623	N	0.002004	T	0.49847	0.1581	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71414	0.931;0.973;0.96;0.973	T	0.36286	-0.9754	10	0.41790	T	0.15	-13.3439	16.1086	0.81244	0.0:0.0:1.0:0.0	.	139;117;60;79	Q8N8Q1-3;Q8N8Q1;E9PCM8;Q6ZQS1	.;C56D1_HUMAN;.;.	H	60;117;117;139	ENSP00000377312:R60H;ENSP00000413530:R117H;ENSP00000434344:R117H;ENSP00000358884:R139H	ENSP00000358884:R139H	R	+	2	0	CYB561D1	109840064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.453000	0.60061	2.788000	0.95919	0.555000	0.69702	CGC		TCGA-IB-AAUS-01A-12D-A38G-08	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030384.1	0	0	0	6	323	0	118	0	5.095912e-04	0	2	0	118	2		0	0	0	0	0	2	1	0.963654	6	318	0	118	2		0	0	0	0	118	2	-2.482631	0	1	121412	1	31	1	1	2	3	2.004678	0	0.130000	2	0.135060	0.310000	0.120000	1.000000	0.270000	0.370288	0.310000	0	0.200000	0.490000
THRAP3	9967	broad.mit.edu	37	1	36766557	36766557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:36766557G>A	ENST00000354618.5	+	10	2598	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T	THRAP3_ENST00000469141.2_Missense_Mutation_p.A792T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3			37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			CTCCTACAAAGCAGAAGAGTA	0.502000			T	USP6	aneurysmal bone cysts								Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0							SO:0001583	missense			ENST00000354618.5	0	1	hg19	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476580	0.84640	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15718	2.4;2.4	5.4	5.4	0.78164	.	0.074233	0.56097	D	0.000033	T	0.34832	0.0911	L	0.51422	1.61	0.45330	D	0.998325	D	0.64830	0.994	P	0.60173	0.87	T	0.01561	-1.1324	10	0.62326	D	0.03	-4.5675	18.5314	0.90993	0.0:0.0:1.0:0.0	.	792	Q9Y2W1	TR150_HUMAN	T	792	ENSP00000346634:A792T;ENSP00000433825:A792T	ENSP00000346634:A792T	A	+	1	0	THRAP3	36539144	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.957000	0.87870	2.705000	0.92388	0.650000	0.86243	GCA		TCGA-IB-AAUS-01A-12D-A38G-08	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	0	0	0	5	257	0	106	1	8.446499e-01	8	167	0	106	2		0	0	0	0	0	2	1	0.932913	5	249	0	105	2		0	0	0	0	106	2	-6.169274	1	1	0	0		1	1	2	3	2.007902	0	0.130000	2	0.135618	0.330000	0.120000	1.000000	0.300000	0.396491	0.330000	0	0.200000	0.540000
MAVS	57506	broad.mit.edu	37	20	3844906	3844906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:3844906C>T	ENST00000428216.2	+	6	757	c.629C>T	c.(628-630)gCg>gTg	p.A210V	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.A69V	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein			14					CCGGCAGGTGCGACCTCCAGC	0.617000																								0							SO:0001583	missense			ENST00000428216.2	0	1	hg19	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	4.610	0.113443	0.08831	0.0	1.16E-4	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.28666	1.6;2.65	3.84	-2.51	0.06365	.	3.330980	0.00987	N	0.003467	T	0.11024	0.0269	N	0.05078	-0.115	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15809	-1.0424	10	0.05351	T	0.99	4.4599	0.9205	0.01314	0.1672:0.3485:0.1665:0.3178	.	210	Q7Z434	MAVS_HUMAN	V	69;210	ENSP00000413749:A69V;ENSP00000401980:A210V	ENSP00000413749:A69V	A	+	2	0	MAVS	3792906	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.043000	0.03535	-0.435000	0.07264	0.650000	0.86243	GCG		TCGA-IB-AAUS-01A-12D-A38G-08	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	0	0	0	7	491	0	196	0	3.568588e-02	0	18	0	196	2		0	0	0	0	0	2	1	0.978366	6	476	0	193	2		0	0	0	0	196	2	-1.691675	0	1	121406	13	40	1	1	2	3	2.006566	0	0.130000	2	0.135618	0.230000	0.100000	1.000000	0.210000	0.305702	0.230000	0	0.150000	0.370000
PLCB4	5332	broad.mit.edu	37	20	9317832	9317832	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:9317832G>A	ENST00000378493.1	+	2	159	c.144G>A	c.(142-144)ctG>ctA	p.L48L	PLCB4_ENST00000378473.3_Silent_p.L48L|PLCB4_ENST00000334005.3_Silent_p.L48L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.L48L|PLCB4_ENST00000378501.2_Silent_p.L48L|PLCB4_ENST00000278655.4_Silent_p.L48L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4			87					GCTTCTTTCTGACATGGAGAA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000378493.1	0	1	hg19	CCDS13105.1																																																																																				TCGA-IB-AAUS-01A-12D-A38G-08	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2	0	0	0	8	433	0	161	0	0	0	1	0	161	2		0	0	0	0	0	2	1	0.988584	9	423	0	160	2		0	0	0	0	161	2	-3.005239	1	1	0	0		1	1	2	3	2.006566	0	0.130000	2	0.135618	0.300000	0.130000	1.000000	0.280000	0.365866	0.300000	0	0.200000	0.460000
OSBP2	23762	broad.mit.edu	37	22	31285529	31285529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:31285529G>A	ENST00000332585.6	+	7	1633	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	OSBP2_ENST00000535268.1_Missense_Mutation_p.R54Q|OSBP2_ENST00000437268.2_Missense_Mutation_p.R252Q|OSBP2_ENST00000446658.2_Missense_Mutation_p.R509Q|OSBP2_ENST00000407373.1_Missense_Mutation_p.R337Q|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000401475.1_Missense_Mutation_p.R143Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.R344Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2			19					GTCAAGAGGCGAGTCCGCATT	0.597000																								0							SO:0001583	missense			ENST00000332585.6	0	1	hg19	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.421409|4.421409	0.83559|0.83559	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000454145;ENST00000453621;ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000424224;ENST00000437268;ENST00000535268;ENST00000452656	.|T;T;T;T;T;T;T	.|0.57273	.|0.46;0.46;0.98;1.0;0.52;0.44;0.41	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.061482	.|0.64402	.|D	.|0.000003	T|T	0.62938|0.62938	0.2469|0.2469	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;0.995;0.995	.|D;D;D;D;P;P	.|0.73708	.|0.979;0.981;0.954;0.981;0.691;0.691	T|T	0.66500|0.66500	-0.5908|-0.5908	5|10	.|0.72032	.|D	.|0.01	-20.1482|-20.1482	18.165|18.165	0.89722|0.89722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|252;344;252;337;509;510	.|F5H2A3;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;OSBP2_HUMAN	K|Q	172;181;182|344;337;510;509;143;144;252;54;141	.|ENSP00000384213:R344Q;ENSP00000385237:R337Q;ENSP00000332576:R510Q;ENSP00000392080:R509Q;ENSP00000385254:R143Q;ENSP00000389200:R252Q;ENSP00000438713:R54Q	.|ENSP00000332576:R510Q	E|R	+|+	1|2	0|0	OSBP2|OSBP2	29615529|29615529	1.000000|1.000000	0.71417|0.71417	0.472000|0.472000	0.27241|0.27241	0.008000|0.008000	0.06430|0.06430	9.601000|9.601000	0.98297|0.98297	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GAG|CGA		TCGA-IB-AAUS-01A-12D-A38G-08	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	0	0	0	7	641	0	269	0	3.384922e-03	0	7	0	269	2		0	0	0	0	0	2	1	0.978398	7	622	0	265	2		0	0	0	0	269	2	-2.277455	0	1	121162	1	37	1	1	2	3	2.003910	0	0.130000	2	0.135060	0.180000	0.070000	1.000000	0.170000	0.247585	0.180000	0	0.120000	0.280000
TTC31	64427	broad.mit.edu	37	2	74717251	74717251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:74717251C>T	ENST00000233623.5	+	3	236	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	TTC31_ENST00000410003.1_Missense_Mutation_p.H77Y|TTC31_ENST00000442235.2_Intron|TTC31_ENST00000463189.1_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31			9					GCTGTGGCACCATGGTGGGGA	0.632000																								0							SO:0001583	missense			ENST00000233623.5	0	1	hg19	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100195	0.37048	.	.	ENSG00000115282	ENST00000410003;ENST00000435361;ENST00000441635;ENST00000233623	T;T	0.53206	0.63;0.63	3.9	3.01	0.34805	.	0.446946	0.17844	N	0.160114	T	0.38427	0.1040	L	0.51422	1.61	0.80722	D	1	B	0.14438	0.01	B	0.09377	0.004	T	0.46190	-0.9209	10	0.87932	D	0	.	6.6934	0.23185	0.0:0.8719:0.0:0.1281	.	77	Q49AM3	TTC31_HUMAN	Y	77	ENSP00000387213:H77Y;ENSP00000233623:H77Y	ENSP00000233623:H77Y	H	+	1	0	TTC31	74570759	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.973000	0.29422	2.177000	0.69029	0.561000	0.74099	CAT		TCGA-IB-AAUS-01A-12D-A38G-08	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	0	0	0	3	21	0	13	0	9.194592e-01	0	37	0	13	2		0	0	0	0	0	2	1	0.812925	3	21	0	13	2		0	0	0	0	13	2	-8.802859	1	1	0	0		1	1	2	3	2.003532	0	0.130000	2	0.135060	0.990000	0.510000	1.000000	1.000000	0.953771	0.990000	1	0.940000	1.000000
CASR	846	broad.mit.edu	37	3	122003470	122003470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:122003470G>A	ENST00000490131.1	+	7	3041	c.2669G>A	c.(2668-2670)cGc>cAc	p.R890H	CASR_ENST00000296154.5_Missense_Mutation_p.R890H|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.R900H	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor			84				Cinacalcet(DB01012)	GCCACGCTGCGCCGCAGCAAC	0.627000																								0							SO:0001583	missense			ENST00000490131.1	0	1	hg19	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257873	0.80246	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89485	-2.52;-2.52;-2.52	5.89	5.89	0.94794	.	0.050341	0.85682	D	0.000000	D	0.86879	0.6039	L	0.32530	0.975	0.52501	D	0.999953	D;D	0.58620	0.983;0.983	P;P	0.45474	0.482;0.482	D	0.88288	0.2941	10	0.72032	D	0.01	.	19.2448	0.93898	0.0:0.0:1.0:0.0	.	900;890	E7ENE0;P41180	.;CASR_HUMAN	H	890;900;890	ENSP00000418685:R890H;ENSP00000420194:R900H;ENSP00000296154:R890H	ENSP00000296154:R890H	R	+	2	0	CASR	123486160	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.479000	0.81095	2.793000	0.96121	0.561000	0.74099	CGC		TCGA-IB-AAUS-01A-12D-A38G-08	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	0	0	0	4	133	0	58	0	1.394914e-02	0	5	0	58	2		0	0	0	0	0	2	0	0.882556	1	131	0	58	2		0	0	0	0	58	2	-6.776742	1	0	121386	1	31	1	0	1	1	1.987766	0	0.130000	2	0.123161	0.480000	0.160000	0.990000	1.000000	0.516063	0.480000	0	0.290000	0.730000
PIK3CA	5290	broad.mit.edu	37	3	178951974	178951974	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:178951974T>C	ENST00000263967.3	+	21	3186	c.3029T>C	c.(3028-3030)aTg>aCg	p.M1010T	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha			5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)	Caffeine(DB00201)	GGCTCTGGAATGCCAGAACTA	0.383000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	phosphoinositide-3-kinase, catalytic, alpha polypeptide		E, O	0							SO:0001583	missense			ENST00000263967.3	0	1	hg19	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485678	0.44147	.	.	ENSG00000121879	ENST00000263967	T	0.81247	-1.47	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	L	0.50333	1.59	0.80722	D	1	P	0.41784	0.762	B	0.39935	0.314	T	0.81230	-0.1027	10	0.87932	D	0	-19.3218	16.635	0.85050	0.0:0.0:0.0:1.0	.	1010	P42336	PK3CA_HUMAN	T	1010	ENSP00000263967:M1010T	ENSP00000263967:M1010T	M	+	2	0	PIK3CA	180434668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.510000	0.81708	2.330000	0.79161	0.477000	0.44152	ATG		TCGA-IB-AAUS-01A-12D-A38G-08	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2	0	0	0	7	355	0	131	1	3.436182e-01	2	54	0	131	2		0	0	0	0	0	2	1	0.979874	7	350	0	131	2		0	0	0	0	131	2	-3.387560	1	1	0	0		1	0	1	1	1.987766	0	0.130000	2	0.123161	0.300000	0.130000	0.560000	0.290000	0.328905	0.300000	0	0.210000	0.440000
CNTN4	152330	broad.mit.edu	37	3	2777910	2777910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:2777910C>A	ENST00000397461.1	+	4	451	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	CNTN4_ENST00000418658.1_Missense_Mutation_p.L23M|CNTN4_ENST00000427331.1_Missense_Mutation_p.L23M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4			61		Ovarian(110;0.156)			TGATTCCACACTGCATGGCCC	0.363000																								0							SO:0001583	missense			ENST00000397461.1	0	1	hg19	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613697	0.66672	.	.	ENSG00000144619	ENST00000422330;ENST00000455083;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.68903	-0.31;0.38;0.38;-0.36;0.38	6.07	6.07	0.98685	.	0.226293	0.30003	N	0.010655	T	0.78509	0.4294	L	0.54323	1.7	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.62649	0.862;0.905	T	0.74225	-0.3734	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	23;23	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	23;23;23;23;41;23	ENSP00000408594:L23M;ENSP00000396010:L23M;ENSP00000380602:L23M;ENSP00000404085:L41M;ENSP00000413642:L23M	ENSP00000380602:L23M	L	+	1	2	CNTN4	2752910	0.829000	0.29322	0.933000	0.37362	0.903000	0.53119	1.506000	0.35747	2.885000	0.99019	0.655000	0.94253	CTG		TCGA-IB-AAUS-01A-12D-A38G-08	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	0	0	0	13	924	0	352	0	2.379172e-04	0	2	0	352	2		0	0	0	0	0	2	1	0.999465	13	906	0	349	2		0	0	0	0	352	2	-3.319243	1	1	120812	1	29	1	0	1	1	1.987766	0	0.130000	2	0.123161	0.210000	0.110000	0.350000	0.210000	0.225857	0.210000	0	0.160000	0.280000
TERT	7015	broad.mit.edu	37	5	1282622	1282622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:1282622G>A	ENST00000310581.5	-	3	1748	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	TERT_ENST00000296820.5_Missense_Mutation_p.T564M|TERT_ENST00000334602.6_Missense_Mutation_p.T564M|TERT_ENST00000508104.2_Missense_Mutation_p.T564M	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase			41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)	Zidovudine(DB00495)	CGTGGTCTCCGTGACATAAAA	0.532000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis															0							SO:0001583	missense	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	ENST00000310581.5	0	1	hg19	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769850	0.49680	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	4.64	4.64	0.57946	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.048739	0.85682	N	0.000000	D	0.97810	0.9281	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99146	1.0857	10	0.87932	D	0	-3.0526	17.5052	0.87743	0.0:0.0:1.0:0.0	.	564;564;564	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	M	564	ENSP00000309572:T564M;ENSP00000296820:T564M;ENSP00000334346:T564M;ENSP00000426042:T564M	ENSP00000296820:T564M	T	-	2	0	TERT	1335622	1.000000	0.71417	0.978000	0.43139	0.722000	0.41435	6.959000	0.76031	2.115000	0.64714	0.462000	0.41574	ACG		TCGA-IB-AAUS-01A-12D-A38G-08	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2	0	0	0	5	257	0	104		0	0	0	0	104	2	1	9.794145e-01	20	1009	2	1079	7	1	0.933592	5	250	0	103	2		0	0	0	0	104	2	-5.902998	1	1	0	0		1	1	2	3	2.004169	0	0.130000	2	0.135060	0.330000	0.120000	1.000000	0.290000	0.390877	0.330000	0	0.200000	0.530000
ADAMTS19	171019	broad.mit.edu	37	5	129030474	129030474	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:129030474C>A	ENST00000274487.4	+	19	3007	c.2862C>A	c.(2860-2862)gaC>gaA	p.D954E	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19			91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		GCATTGTGGACAATGAGAAAT	0.368000																								0							SO:0001583	missense			ENST00000274487.4	0	1	hg19	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994870	0.35226	.	.	ENSG00000145808	ENST00000274487	T	0.61040	0.14	4.08	2.31	0.28768	.	0.066129	0.64402	D	0.000018	T	0.36413	0.0966	N	0.16790	0.44	0.40226	D	0.977794	B	0.09022	0.002	B	0.09377	0.004	T	0.10823	-1.0613	9	.	.	.	.	10.5893	0.45300	0.0:0.8397:0.0:0.1603	.	954	Q8TE59	ATS19_HUMAN	E	954	ENSP00000274487:D954E	.	D	+	3	2	ADAMTS19	129058373	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.248000	0.32827	0.692000	0.31613	0.555000	0.69702	GAC		TCGA-IB-AAUS-01A-12D-A38G-08	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	0	0	0	8	446	0	164		0	0	0	0	164	2		0	0	0	0	0	2	1	0.988396	7	437	0	163	2		0	0	0	0	164	2	-3.253610	1	1	0	0		1	1	2	3	2.009138	0	0.130000	2	0.136176	0.290000	0.130000	1.000000	0.270000	0.363631	0.290000	0	0.200000	0.450000
PCDHAC2	56134	broad.mit.edu	37	5	140347636	140347636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140347636C>T	ENST00000289269.5	+	1	1817	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2			45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCCACTGGACCGAGAGCGGGT	0.572000													Melanoma(190;638 2083 3390 11909 52360)											0							SO:0001587	stop_gained			ENST00000289269.5	0	1	hg19	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	41	8.700697	0.98920	.	.	ENSG00000243232	ENST00000289269	.	.	.	5.79	2.46	0.29980	.	0.000000	0.40064	N	0.001194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4557	0.84012	0.3826:0.6174:0.0:0.0	.	.	.	.	X	429	.	ENSP00000289269:R429X	R	+	1	2	PCDHAC2	140327820	0.745000	0.28261	1.000000	0.80357	0.903000	0.53119	0.052000	0.14163	0.670000	0.31165	0.563000	0.77884	CGA		TCGA-IB-AAUS-01A-12D-A38G-08	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	0	0	0	7	444	0	187		0	0	0	0	187	2		0	0	0	0	0	2	0	0.289729	7	431	1	182	10		0	0	0	0	187	2	-2.512142	1	1	0	0		1	1	2	3	2.009138	0	0.130000	2	0.136176	0.260000	0.110000	1.000000	0.240000	0.334698	0.260000	0	0.170000	0.410000
PCDHB11	56125	broad.mit.edu	37	5	140580809	140580809	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140580809T>C	ENST00000354757.3	+	1	1462	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Y123H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11			63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CCAGGTCAACTACTCGCTACT	0.632000																								0							SO:0001583	missense			ENST00000354757.3	0	1	hg19	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	t	18.67	3.674200	0.67928	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.62941	-0.01;-0.01	2.51	2.51	0.30379	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85665	0.5749	H	0.99058	4.415	0.37148	D	0.902036	D	0.89917	1.0	D	0.97110	1.0	D	0.89861	0.4016	9	0.87932	D	0	.	10.4143	0.44311	0.0:0.0:0.0:1.0	.	488	Q9Y5F2	PCDBB_HUMAN	H	123;488	ENSP00000440344:Y123H;ENSP00000346802:Y488H	ENSP00000346802:Y488H	Y	+	1	0	PCDHB11	140560993	0.783000	0.28701	0.930000	0.37139	0.067000	0.16453	2.392000	0.44433	1.160000	0.42584	0.248000	0.18094	TAC		TCGA-IB-AAUS-01A-12D-A38G-08	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	0	0	0	18	777	0	296	0	5.974786e-04	0	2	0	296	2		0	0	0	0	0	2	1	0.999978	18	760	0	292	2		0	0	0	0	296	2	-13.974470	1	1	121412	4	41	1	1	2	3	2.009138	0	0.130000	2	0.136176	0.360000	0.210000	1.000000	0.350000	0.422749	0.360000	0	0.280000	0.490000
GABRA6	2559	broad.mit.edu	37	5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Intron			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6			57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTTTTTTTCCGCCAGACCTG	0.408000										TCGA Ovarian(5;0.080)														0							SO:0001583	missense			ENST00000274545.5	0	1	hg19	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915608	0.92178	.	.	ENSG00000145863	ENST00000274545;ENST00000517823	T;T	0.80566	-1.39;-1.39	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94213	0.7460	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	84	Q16445	GBRA6_HUMAN	C	84;31	ENSP00000274545:R84C;ENSP00000430212:R31C	ENSP00000274545:R84C	R	+	1	0	GABRA6	161048557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.843000	0.69424	2.824000	0.97209	0.655000	0.94253	CGC		TCGA-IB-AAUS-01A-12D-A38G-08	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2	0	0	0	7	479	0	190		0	0	0	0	190	2		0	0	0	0	0	2	1	0.979575	7	471	0	189	2		0	0	0	0	190	2	-2.333423	0	1	121412	4	39	1	1	2	3	2.009138	0	0.130000	2	0.136176	0.240000	0.100000	1.000000	0.220000	0.317301	0.240000	0	0.160000	0.380000
DMGDH	29958	broad.mit.edu	37	5	78326807	78326807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:78326807C>T	ENST00000255189.3	-	10	1560	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase			34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)			CCAGTTTGTGCGGCGAAAACT	0.398000																								0							SO:0001583	missense			ENST00000255189.3	0	1	hg19	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357047	0.95854	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.997;0.994	D;P;P;P	0.91635	0.999;0.829;0.856;0.722	D	0.94474	0.7687	10	0.72032	D	0.01	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	131;310;361;511	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	H	511;350;310;131;361	ENSP00000255189:R511H;ENSP00000430972:R350H;ENSP00000369667:R310H;ENSP00000439478:R131H	ENSP00000255189:R511H	R	-	2	0	DMGDH	78362563	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.729000	0.84864	2.771000	0.95319	0.563000	0.77884	CGC		TCGA-IB-AAUS-01A-12D-A38G-08	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	0	0	0	5	229	1	92	0	1.409883e-02	0	7	1	92	2		0	0	0	0	0	2	0	0.131583	5	222	1	91	10		0	0	0	1	92	2	-2.717810	1	1	121410	9	38	1	1	2	3	2.009138	0	0.130000	2	0.136176	0.370000	0.130000	1.000000	0.320000	0.438009	0.370000	0	0.230000	0.620000
WTAP	9589	broad.mit.edu	37	6	160174502	160174502	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:160174502A>G	ENST00000358372.4	+	7	2220	c.463A>G	c.(463-465)Aaa>Gaa	p.K155E	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein			18		Breast(66;0.000776)|Ovarian(120;0.0303)			CCAAACAGGGAAAAAGTTAAT	0.428000																								0							SO:0001583	missense			ENST00000358372.4	0	1	hg19	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	A	35	5.470230	0.96274	.	.	ENSG00000146457	ENST00000358372	T	0.51574	0.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.987	T	0.71272	-0.4642	10	0.51188	T	0.08	-4.8657	16.8222	0.85835	1.0:0.0:0.0:0.0	.	155;155	A8K489;Q15007	.;FL2D_HUMAN	E	155	ENSP00000351141:K155E	ENSP00000351141:K155E	K	+	1	0	WTAP	160094492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.313000	0.96297	2.371000	0.80710	0.533000	0.62120	AAA		TCGA-IB-AAUS-01A-12D-A38G-08	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	0	0	0	4	223	1	84	0	3.499503e-02	4	87	1	84	6		0	0	0	0	0	2	0	0.046801	5	213	1	84	11		0	0	0	1	84	2	-3.104234	1	1	0	0		1	0	0	0	1.985113	0	0.130000	2	0.119700	0.290000	0.090000	0.620000	0.260000	0.321241	0.290000	0	0.170000	0.450000
GRM4	2914	broad.mit.edu	37	6	34003844	34003844	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:34003844G>A	ENST00000538487.2	-	9	2486	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	GRM4_ENST00000374177.3_Silent_p.F565F|GRM4_ENST00000535756.1_Silent_p.F548F|GRM4_ENST00000609222.1_Silent_p.F548F|GRM4_ENST00000544773.2_Silent_p.F512F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.F681F|GRM4_ENST00000455714.2_Silent_p.F541F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4			48					TGCCCTGCTCGAAGATGCGGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000538487.2	0	1	hg19	CCDS4787.1																																																																																				TCGA-IB-AAUS-01A-12D-A38G-08	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2	0	0	0	6	371	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	0.961314	6	358	0	158	2		0	0	0	0	158	2	-2.934260	1	1	121412	4	37	1	0	0	0	1.985113	0	0.130000	2	0.119700	0.250000	0.100000	0.490000	0.240000	0.275360	0.250000	0	0.160000	0.370000
OR6B1	135946	broad.mit.edu	37	7	143701160	143701160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:143701160G>A	ENST00000408922.2	+	1	139	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1			27	Melanoma(164;0.0783)				TTGAGTATGCGGGCAGCCATG	0.502000																								0							SO:0001583	missense			ENST00000408922.2	1	1	hg19	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.774575	0.00640	2.52E-4	0.0	ENSG00000221813	ENST00000408922	T	0.00211	8.54	5.37	1.53	0.23141	.	0.295013	0.17555	U	0.170002	T	0.00039	0.0001	N	0.01015	-1.05	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	10	0.02654	T	1	.	7.8985	0.29721	0.4139:0.0:0.5861:0.0	.	24	O95007	OR6B1_HUMAN	Q	24	ENSP00000386151:R24Q	ENSP00000386151:R24Q	R	+	2	0	OR6B1	143332093	0.146000	0.22672	0.124000	0.21820	0.227000	0.25037	2.922000	0.48860	0.404000	0.25506	-0.252000	0.11476	CGG		TCGA-IB-AAUS-01A-12D-A38G-08	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1	0	0	0	9	397	0	164		0	0	0	0	164	2		0	0	0	0	0	2	1	0.994007	9	392	0	163	2		0	0	0	0	164	2	-2.593777	1	1	120952	2	32	1	1	2	3	2.013721	0	0.130000	2	0.137290	0.370000	0.170000	1.000000	0.340000	0.439595	0.370000	0	0.260000	0.570000
COBL	23242	broad.mit.edu	37	7	51096317	51096317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:51096317G>A	ENST00000265136.7	-	10	2641	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W	COBL_ENST00000395542.2_Missense_Mutation_p.R908W	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein			65	Glioma(55;0.08)				AGGGGGTTCCGGCCCTCATGG	0.622000													NSCLC(189;2119 2138 12223 30818 34679)											0							SO:0001583	missense			ENST00000265136.7	0	1	hg19	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521241	0.44866	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.12774	2.66;2.66;2.65;2.65	5.2	2.41	0.29592	.	0.935820	0.08832	N	0.887110	T	0.16428	0.0395	N	0.22421	0.69	0.09310	N	1	D;D;D;D;P	0.69078	0.997;0.997;0.996;0.979;0.924	P;P;P;B;B	0.55923	0.787;0.787;0.617;0.409;0.409	T	0.21655	-1.0239	10	0.66056	D	0.02	.	5.3882	0.16229	0.0:0.6034:0.1544:0.2423	.	826;883;826;908;368	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	W	826;718;711;908	ENSP00000265136:R826W;ENSP00000401204:R718W;ENSP00000413498:R711W;ENSP00000378912:R908W	ENSP00000265136:R826W	R	-	1	2	COBL	51063811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.260000	0.18424	0.205000	0.20568	-0.344000	0.07964	CGG		TCGA-IB-AAUS-01A-12D-A38G-08	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	0	0	0	4	166	0	93	0	2.380090e-02	0	8	0	93	2		0	0	0	0	0	2	0	0.121998	4	164	1	90	9		0	0	0	0	93	2	-3.073756	1	1	121410	2	38	1	1	2	3	2.013721	0	0.130000	2	0.137290	0.430000	0.140000	1.000000	0.360000	0.492484	0.430000	0	0.250000	0.760000
AKAP9	10142	broad.mit.edu	37	7	91714155	91714155	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:91714155G>A	ENST00000359028.2	+	35	8970	c.8745G>A	c.(8743-8745)caG>caA	p.Q2915Q	AKAP9_ENST00000356239.3_Silent_p.Q2911Q|AKAP9_ENST00000358100.2_Intron			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		ACTGGGGTCAGGGAATTTATC	0.348000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001819	synonymous_variant			ENST00000359028.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.390	0.839502	0.16891	.	.	ENSG00000127914	ENST00000435423	.	.	.	4.77	0.0786	0.14413	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25047	-1.0143	4	.	.	.	.	0.8096	0.01091	0.436:0.1721:0.2181:0.1738	.	.	.	.	K	56	.	.	R	+	2	0	AKAP9	91552091	0.986000	0.35501	0.999000	0.59377	0.989000	0.77384	0.048000	0.14078	0.155000	0.19261	0.561000	0.74099	AGG		TCGA-IB-AAUS-01A-12D-A38G-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	0	0	13	623	0	207	1	9.921652e-02	6	18	0	207	2		0	0	0	0	0	2	1	0.999491	12	613	0	202	2		0	0	0	0	207	2	-2.174796	0	1	0	0		1	1	2	3	2.013721	0	0.130000	2	0.137290	0.330000	0.180000	1.000000	0.320000	0.406183	0.330000	0	0.240000	0.480000
TRRAP	8295	broad.mit.edu	37	7	98573795	98573795	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:98573795C>T	ENST00000359863.4	+	53	8051	c.7842C>T	c.(7840-7842)ttC>ttT	p.F2614F	TRRAP_ENST00000446306.3_Silent_p.F2596F|TRRAP_ENST00000355540.3_Silent_p.F2596F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		TCAGCGCTTTCGTTCAGCTGT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000359863.4	1	1	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287598	0.23478	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.06	0.591	0.17465	.	.	.	.	.	T	0.57917	0.2086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50508	-0.8820	4	.	.	.	.	9.9707	0.41752	0.0:0.372:0.0:0.628	.	.	.	.	L	2336	.	.	S	+	2	0	TRRAP	98411731	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	0.961000	0.29267	-0.129000	0.11620	-0.345000	0.07892	TCG		TCGA-IB-AAUS-01A-12D-A38G-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	0	0	1	13	377	0	140	1	2.515651e-01	5	22	0	140	2		0	0	0	0	0	2	1	0.999512	12	373	0	140	2		0	0	0	0	140	2	-3.369585	1	1	121412	3	38	1	1	2	3	2.013721	0	0.130000	2	0.137290	0.540000	0.300000	1.000000	0.510000	0.592379	0.540000	0	0.400000	0.780000
SEC16A	9919	broad.mit.edu	37	9	139370989	139370989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:139370989G>A	ENST00000371706.3	-	1	578	c.545C>T	c.(544-546)gCc>gTc	p.A182V	SEC16A_ENST00000431893.2_Missense_Mutation_p.A182V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A182V|SEC16A_ENST00000313050.7_Missense_Mutation_p.A360V			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)			51		Myeloproliferative disorder(178;0.0511)			TTCTAGCGGGGCACAGCCAGA	0.607000																								0							SO:0001583	missense			ENST00000371706.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.22	1.574576	0.28092	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.24350	1.89;1.86;1.86;1.87	4.78	-1.84	0.07809	.	1.706090	0.03038	N	0.153015	T	0.08846	0.0219	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.08055	0.001;0.003;0.003	T	0.21999	-1.0229	10	0.23302	T	0.38	.	5.9374	0.19173	0.5872:0.1539:0.2589:0.0	.	360;182;182	F1T0I1;O15027-5;O15027-4	.;.;.	V	360;182;182;182	ENSP00000325827:A360V;ENSP00000360771:A182V;ENSP00000290037:A182V;ENSP00000387583:A182V	ENSP00000290037:A182V	A	-	2	0	SEC16A	138490810	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	1.309000	0.33539	-0.036000	0.13669	-0.812000	0.03155	GCC		TCGA-IB-AAUS-01A-12D-A38G-08	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	0	0	0	4	110	1	48	0	2.580170e-02	0	23	1	48	4		0	0	0	0	0	2	0	0.075485	4	109	1	48	10		0	0	0	1	48	2	-7.159249	1	1	0	0		1	0	1	1	1.988230	0	0.130000	2	0.123161	0.570000	0.190000	1.000000	1.000000	0.601576	0.570000	0	0.350000	0.860000
BCOR	54880	broad.mit.edu	37	X	39934135	39934135	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:39934135A>G	ENST00000378444.4	-	4	692	c.464T>C	c.(463-465)aTa>aCa	p.I155T	BCOR_ENST00000342274.4_Missense_Mutation_p.I155T|BCOR_ENST00000397354.3_Missense_Mutation_p.I155T|BCOR_ENST00000378455.4_Missense_Mutation_p.I155T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor			126					ACTTTTTTGTATTCCAGGCGG	0.517000			F, N, S, T	RARA	retinoblastoma, AML, APL(translocation)		oculo-facio-cardio-dental genetic								Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0							SO:0001583	missense			ENST00000378444.4	0	1	hg19	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242244	0.58995	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.47	5.47	0.80525	.	.	.	.	.	T	0.75671	0.3881	L	0.27053	0.805	0.45930	D	0.998761	D;D;D;D	0.71674	0.998;0.998;0.997;0.998	D;D;D;D	0.81914	0.995;0.995;0.989;0.995	T	0.79222	-0.1892	9	0.87932	D	0	-16.4292	14.5759	0.68246	1.0:0.0:0.0:0.0	.	155;155;155;155	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	155	ENSP00000367716:I155T;ENSP00000380512:I155T;ENSP00000367705:I155T;ENSP00000345923:I155T;ENSP00000384485:I155T	ENSP00000345923:I155T	I	-	2	0	BCOR	39819079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.931000	0.70113	1.822000	0.53115	0.486000	0.48141	ATA		TCGA-IB-AAUS-01A-12D-A38G-08	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	0	0	0	9	501	0	182	0	1.352415e-02	0	9	0	182	2		0	0	0	0	0	2	1	0.993406	9	485	0	182	2		0	0	0	0	182	2	-7.998889	1	1	0	0		1	0	1	1			0.130000	2	0.130000	0.280000	0.130000	0.490000	0.270000	0.296531	0.280000	0	0.190000	0.380000