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
UNC5B	219699	broad.mit.edu	37	10	73046540	73046540	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr10:73046540G>A	ENST00000335350.6	+	5	1063	c.647G>A	c.(646-648)cGc>cAc	p.R216H	UNC5B_ENST00000373192.4_Missense_Mutation_p.R216H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	p.R216H(1)		49					CGCCAGGCCCGCCTGTCGGAC	0.597000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000335350.6	1	0	hg19	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	22.000000	4.227582	0.795760	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.67698	-0.28;-0.28	5.430000	4.530000	0.556030	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.824070	0.503000	M	0.82630	2.6	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.853300	0.108900	10	0.87932	D	0	-34.0893	14.230700	0.658900	0.0717:0.0:0.9283:0.0	.	216;216	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	H	216	ENSP00000334329:R216H;ENSP00000362288:R216H	ENSP00000334329:R216H	R	+	2	0	UNC5B	72716546	1	0.714170	9.840000e-01	0.447390	3.720000e-01	0.298900	9.869000	0.998100	1.312000	0.450430	0.561000	0.740990	CGC		TCGA-HZ-8519-01A-11D-2396-08	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	0	0	1	60	1550	1	310	1	6.364578e-01	8	79	1	310	3		0	0	0	0	0	2	1	0.999905	60	1360	2	303	23		0	0	0	1	310	2	-3.734918	1	0	121412	3	41	1	1	2	3	2.004491	0	0.090000	2.020000	0.097715	0.850000	0.640000	1.000000	1.000000	0.862540	0.850000	1	0.740000	1.000000
GLB1L3	112937	broad.mit.edu	37	11	134182352	134182352	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr11:134182352G>A	ENST00000431683.2	+	14	1397	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3			13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)			TCCGGAGGCCGCCTCCGTGCC	0.607000																								0							SO:0001583	missense			ENST00000431683.2	1	1	hg19	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	6.749000	0.507092	0.128830	0.0	1.18E-4	ENSG00000166105	ENST00000431683	D	0.92752	-3.1	4.690000	-9.380000	0.006230	.	5.286760	0.00166	N	0.000000	D	0.837600	0.532400	L	0.28400	0.85	0.093100	N	1.000000	B	0.10296	0.003	B	0.04013	0.001	T	0.714440	-0.459100	10	0.44086	T	0.13	.	4.431200	0.115290	0.0864:0.1553:0.3909:0.3674	.	466	Q8NCI6	GLBL3_HUMAN	H	466	ENSP00000396615:R466H	ENSP00000396615:R466H	R	+	2	0	GLB1L3	133687562	0	0.058580	0	0.037020	0	0.004340	-1.437000	0.024190	-3.768000	0.001090	-1.608000	0.008050	CGC		TCGA-HZ-8519-01A-11D-2396-08	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	1	0	0	19	215	0	61	0	3.970214e-02	0	4	0	61	2		0	0	0	0	0	2	1	0.999991	19	211	0	61	2		0	0	0	0	61	2	-19.999980	1	1	121074	1	30	1	1	2	3	2.002372	0	0.090000	2.020000	0.118559	0.990000	0.990000	1.000000	1.000000	0.999673	0.990000	1	0.990000	1.000000
RNF10	9921	broad.mit.edu	37	12	120984337	120984337	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr12:120984337C>T	ENST00000325954.4	+	2	748	c.287C>T	c.(286-288)cCt>cTt	p.P96L	RNF10_ENST00000413266.2_Missense_Mutation_p.P96L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10			27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				AACAAGATGCCTCCTCAAAGG	0.433000																								0							SO:0001583	missense			ENST00000325954.4	1	0	hg19	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	C	29.800000	5.037389	0.936300	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000537997	D;D	0.90261	-2.63;-2.64	5.030000	5.030000	0.673930	.	0.052596	0.85682	D	0.000000	D	0.953480	0.849000	M	0.78456	2.415	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.954680	0.854900	10	0.59425	D	0.04	.	18.723700	0.917050	0.0:1.0:0.0:0.0	.	96;96	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	L	96;96;96;46	ENSP00000322242:P96L;ENSP00000415682:P96L	ENSP00000322242:P96L	P	+	2	0	RNF10	119468720	1	0.714170	1	0.803570	9.980000e-01	0.957120	7.158000	0.774700	2.479000	0.837010	0.655000	0.942530	CCT		TCGA-HZ-8519-01A-11D-2396-08	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4	0	0	1	18	533	0	98	1	9.993171e-01	42	307	0	98	2		0	0	0	0	0	2	1	0.999981	18	529	0	96	2		0	0	0	0	98	2	-3.229682	1	0	121412	5	41	1	1	2	3	2.008547	0	0.090000	2.020000	0.098519	0.780000	0.460000	1.000000	1.000000	0.788991	0.780000	0	0.600000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	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			hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.400000	4.409094	0.833400	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.859190	0.580900	M	0.91818	3.245	0.807220	D	1.000000	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.878700	0.267000	10	0.87932	D	0	.	18.371900	0.904090	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	0.714170	1	0.803570	9.980000e-01	0.957120	7.743000	0.850200	2.668000	0.907890	0.563000	0.778840	GGT		TCGA-HZ-8519-01A-11D-2396-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1		0		5	92	0	18	1	5.926294e-01	6	29	0	18	2	1	9.999648e-01	7	613	0	358	2	1	0.937536	5	91	0	18	2	1	1	208	7817	0	18	2	-4.444013	1	1	121404	2	44	1	1	2	3	2.008547	0	0.090000	2.020000	0.098519	0.990000	0.480000	1.000000	1.000000	0.927638	0.990000	1	0.790000	1.000000
DENND5B	160518	broad.mit.edu	37	12	31613289	31613289	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr12:31613289C>T	ENST00000389082.5	-	4	1195	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	DENND5B_ENST00000536562.1_Missense_Mutation_p.E346K|DENND5B_ENST00000354285.4_Missense_Mutation_p.E333K|DENND5B_ENST00000306833.6_Missense_Mutation_p.E346K|DENND5B_ENST00000545147.1_5'UTR	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B			38					GTGATGCCTTCTGCCACAGTC	0.418000																								0							SO:0001583	missense			ENST00000389082.5	1	0	hg19	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	34.000000	5.360292	0.958770	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	4.650000	4.650000	0.581690	DENN (3);	0.000000	0.64402	D	0.000001	T	0.407430	0.112900	M	0.79011	2.435	0.807220	D	1.000000	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.373140	-0.971100	10	0.72032	D	0.01	-25.197	18.073100	0.894170	0.0:1.0:0.0:0.0	.	346;233;333;311;346	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	K	311;346;346;333;263	ENSP00000373734:E311K;ENSP00000306482:E346K;ENSP00000444889:E346K;ENSP00000346238:E333K;ENSP00000442938:E263K	ENSP00000306482:E346K	E	-	1	0	DENND5B	31504556	1	0.714170	9.600000e-01	0.400130	9.680000e-01	0.652780	7.410000	0.800650	2.569000	0.866730	0.655000	0.942530	GAA		TCGA-HZ-8519-01A-11D-2396-08	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	1	0	0	10	241	0	32	1	2.943335e-01	2	23	0	32	2		0	0	0	0	0	2	1	0.996860	9	239	0	32	2		0	0	0	0	32	2	-3.208049	1	0	0	0		1	1	2	3	2.008547	0	0.090000	2.020000	0.098519	0.970000	0.480000	1.000000	1.000000	0.878919	0.970000	1	0.690000	1.000000
PHB2	11331	broad.mit.edu	37	12	7076924	7076924	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr12:7076924C>T	ENST00000535923.1	-	6	907	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	PHB2_ENST00000399433.2_Missense_Mutation_p.R209Q|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000546111.1_Intron|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000440277.1_Intron|PHB2_ENST00000542912.1_Missense_Mutation_p.R209Q|U47924.29_ENST00000606539.1_RNA	NM_001144831.1	NP_001138303.1			prohibitin 2			3					GAATTGGGCCCGCTGGGCCTC	0.592000																								0							SO:0001583	missense			ENST00000535923.1	1	0	hg19	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	C	35.000000	5.472233	0.962740	0.0	1.21E-4	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000545167	.	.	.	4.600000	4.600000	0.570740	.	0.000000	0.64402	U	0.000002	D	0.824400	0.503700	M	0.90814	3.15	0.807220	D	1.000000	P	0.50443	0.935	P	0.55965	0.788	D	0.871030	0.218000	9	0.87932	D	0	-15.6752	17.616700	0.880690	0.0:1.0:0.0:0.0	.	209	Q99623	PHB2_HUMAN	Q	209;209;209;245	.	ENSP00000382362:R209Q	R	-	2	0	PHB2	6947185	1	0.714170	1	0.803570	9.980000e-01	0.957120	7.617000	0.830320	2.389000	0.813570	0.655000	0.942530	CGG		TCGA-HZ-8519-01A-11D-2396-08	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	0	0	1	39	1066	0	238	1	1	114	823	0	238	2		0	0	0	0	0	2	1	1.000000	39	1047	0	236	2		0	0	0	0	238	2	-2.424337	0	0	120872	3	41	1	0	0	0	1.942840	0	0.090000	2.020000	0.056897	0.750000	0.540000	0.990000	0.750000	0.761452	0.750000	0	0.640000	0.880000
TBC1D4	9882	broad.mit.edu	37	13	75884223	75884223	+	Silent	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr13:75884223C>T	ENST00000377636.3	-	14	2794	c.2448G>A	c.(2446-2448)ccG>ccA	p.P816P	TBC1D4_ENST00000377625.2_Silent_p.P753P|TBC1D4_ENST00000425511.1_Silent_p.P33P|TBC1D4_ENST00000431480.2_Silent_p.P808P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4			50		Prostate(6;0.014)|Breast(118;0.0982)			ATACAACCAGCGGTTCCTCCT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000377636.3	1	1	hg19	CCDS41901.1																																																																																				TCGA-HZ-8519-01A-11D-2396-08	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	1	0	0	21	232	0	47	1	9.695791e-01	3	63	0	47	2		0	0	0	0	0	2	1	0.999998	20	228	0	46	2		0	0	0	0	47	2	-8.283467	1	1	120818	2	29	1	1	2	3	2.073066	0	0.090000	2.020000	0.112758	0.990000	0.990000	1.000000	1.000000	0.999831	0.990000	1	0.990000	1.000000
TOX4	9878	broad.mit.edu	37	14	21963449	21963449	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr14:21963449C>T	ENST00000405508.1	+	9	1979	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	TOX4_ENST00000448790.2_Missense_Mutation_p.P545L|TOX4_ENST00000262709.3_Missense_Mutation_p.P568L			O94842	TOX4_HUMAN	TOX high mobility group box family member 4			18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)		GCACTCTCACCCCAGCCTCGA	0.502000																								0							SO:0001583	missense			ENST00000405508.1	1	0	hg19	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	C	22.800000	4.340897	0.819110	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.14391	2.54;2.54;2.51	5.570000	5.570000	0.841620	.	0.166361	0.40302	N	0.001131	T	0.213470	0.051400	L	0.49126	1.545	0.807220	D	1.000000	P;P	0.51791	0.948;0.948	P;P	0.46362	0.514;0.514	T	0.002820	-1.185000	10	0.72032	D	0.01	.	18.698200	0.916100	0.0:1.0:0.0:0.0	.	545;568	B4DPY8;O94842	.;TOX4_HUMAN	L	568;568;545;496	ENSP00000385102:P568L;ENSP00000262709:P568L;ENSP00000393080:P545L	ENSP00000262709:P568L	P	+	2	0	TOX4	21033289	9.910000e-01	0.366380	1	0.803570	9.960000e-01	0.888480	3.079000	0.501040	2.770000	0.952760	0.650000	0.862430	CCC		TCGA-HZ-8519-01A-11D-2396-08	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	0	0	1	20	555	0	113	1	9.520537e-01	16	126	0	113	2		0	0	0	0	0	2	1	0.999995	20	546	0	111	2		0	0	0	0	113	2	-2.791186	1	0	121412	1	36	1	0	0	0	1.948329	0	0.090000	2.020000	0.060403	0.740000	0.470000	1.000000	1.000000	0.754492	0.740000	0	0.590000	0.910000
GRIN2A	2903	broad.mit.edu	37	16	10274206	10274206	+	Silent	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr16:10274206C>T	ENST00000396573.2	-	3	372	c.63G>A	c.(61-63)ccG>ccA	p.P21P	GRIN2A_ENST00000396575.2_Silent_p.P21P|GRIN2A_ENST00000330684.3_Silent_p.P21P|GRIN2A_ENST00000404927.2_Silent_p.P21P|GRIN2A_ENST00000562109.1_Silent_p.P21P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A			198				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCTCGGCGCCGGACCGCGCC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000396573.2	1	1	hg19	CCDS10539.1																																																																																				TCGA-HZ-8519-01A-11D-2396-08	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	1	0	0	16	221	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	0.999938	16	218	0	49	2		0	0	0	0	50	2	-19.781370	1	1	0	0		1	1	2	3	2.025791	0	0.090000	2.020000	0.102520	0.990000	0.930000	1.000000	1.000000	0.995782	0.990000	1	0.990000	1.000000
HMOX2	3163	broad.mit.edu	37	16	4557846	4557846	+	Missense_Mutation	SNP	A	A	T	rs150288371	byFrequency	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr16:4557846A>T	ENST00000570646.1	+	4	942	c.337A>T	c.(337-339)Atg>Ttg	p.M113L	HMOX2_ENST00000458134.3_Missense_Mutation_p.M113L|HMOX2_ENST00000406590.2_Missense_Mutation_p.M113L|HMOX2_ENST00000414777.1_Missense_Mutation_p.M113L|HMOX2_ENST00000575120.1_Missense_Mutation_p.M84L|HMOX2_ENST00000219700.6_Missense_Mutation_p.M113L|HMOX2_ENST00000398595.3_Missense_Mutation_p.M113L	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2			8					GACCAAGGACATGGAGTATTT	0.577000																								0							SO:0001583	missense			ENST00000570646.1	1	0	hg19	CCDS10517.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	2.895000	-0.228848	0.060220	4.55E-4	0.002209	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33	5.620000	4.510000	0.551910	Haem oxygenase-like, multi-helical (2);	0.087753	0.85682	N	0.000000	T	0.020120	0.006300	N	0.01009	-1.055	0.478620	D	0.999538	B;B	0.15473	0.013;0.013	B;B	0.17722	0.019;0.019	T	0.385640	-0.965500	10	0.02654	T	1	-17.4982	11.303400	0.493200	0.5809:0.4191:0.0:0.0	.	113;113	B3KSE0;P30519	.;HMOX2_HUMAN	L	113	ENSP00000385100:M113L;ENSP00000394103:M113L;ENSP00000219700:M113L;ENSP00000391637:M113L;ENSP00000381595:M113L	ENSP00000219700:M113L	M	+	1	0	HMOX2	4497847	1	0.714170	1	0.803570	6.760000e-01	0.395940	2.361000	0.441600	0.942000	0.375250	-0.466000	0.051960	ATG		TCGA-HZ-8519-01A-11D-2396-08	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2	1	0	0	12	287	0	73	0	9.999204e-01	0	424	0	73	2		0	0	0	0	0	2	1	0.999037	12	280	0	72	2		0	0	0	0	73	2	-13.449220	1	0	121412	130	52	1	1	2	3	2.025791	0	0.090000	2.020000	0.102520	0.990000	0.520000	1.000000	1.000000	0.894511	0.990000	1	0.720000	1.000000
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642000		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	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)						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	0	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.000000	4.694391	0.888300	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.470000	5.470000	0.805250	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.999170	0.996100	M	0.92507	3.315	0.807220	D	1.000000	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.958740	0.889300	10	0.87932	D	0	-15.4889	13.803200	0.632140	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1	0.714170	9.450000e-01	0.383650	8.560000e-01	0.488230	6.263000	0.725210	2.208000	0.712790	0.460000	0.390300	CAT		TCGA-HZ-8519-01A-11D-2396-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	14	286	0	68	1	9.289675e-01	47	48	0	68	2	1	1	41	1173	0	784	2	1	0.999767	14	285	0	66	2		0	0	0	0	68	2	-16.029150	1	1	0	0		1	0	0	0	1.944179	0	0.090000	2.020000	0.057776	0.930000	0.550000	1.000000	1.000000	0.886456	0.930000	1	0.730000	1.000000
PCYT2	5833	broad.mit.edu	37	17	79866486	79866486	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr17:79866486C>T	ENST00000538936.2	-	4	473	c.365G>A	c.(364-366)gGc>gAc	p.G122D	PCYT2_ENST00000570391.1_Missense_Mutation_p.G90D|PCYT2_ENST00000538721.2_Missense_Mutation_p.G122D|PCYT2_ENST00000570388.1_Missense_Mutation_p.G44D|PCYT2_ENST00000571105.1_Missense_Mutation_p.G122D|PCYT2_ENST00000331285.3_Missense_Mutation_p.G44D	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine			8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)	Lamivudine(DB00709)	GGTGTCCCGGCCATCTACAGT	0.597000																								0							SO:0001583	missense			ENST00000538936.2	1	1	hg19	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	C	28.500000	4.925191	0.923190	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	D;D	0.96396	-4.0;-4.0	4.610000	4.610000	0.572820	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.986040	0.953300	M	0.93594	3.435	0.807220	D	1.000000	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.997800	1.102700	10	0.87932	D	0	-34.8642	17.645800	0.881480	0.0:1.0:0.0:0.0	.	90;90;122;44;122	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	D	122;122;44	ENSP00000442050:G122D;ENSP00000439245:G122D	ENSP00000331719:G44D	G	-	2	0	PCYT2	77459778	1	0.714170	9.970000e-01	0.539660	8.410000e-01	0.477400	5.058000	0.643000	2.380000	0.811480	0.650000	0.862430	GGC		TCGA-HZ-8519-01A-11D-2396-08	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	1	0	1	13	171	0	45	1	9.959139e-01	26	99	0	45	2		0	0	0	0	0	2	1	0.999579	13	170	0	45	2		0	0	0	0	45	2	-3.319452	1	1	0	0		1	1	2	3	2.007292	0	0.090000	2.020000	0.098519	0.990000	0.900000	1.000000	1.000000	0.994424	0.990000	1	0.990000	1.000000
CNN2	1265	broad.mit.edu	37	19	1032666	1032666	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr19:1032666C>A	ENST00000263097.4	+	4	724	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	CNN2_ENST00000348419.3_Missense_Mutation_p.Q121K|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Missense_Mutation_p.Q121K|CNN2_ENST00000565096.2_Intron	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2			10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			GACgcaggtgcaggtgtctct	0.597000																								0							SO:0001583	missense			ENST00000263097.4	1	0	hg19	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	C	19.170000	3.775353	0.701070	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	D;T	0.94966	-3.57;0.28	4.050000	4.050000	0.471720	Calponin homology domain (5);	0.000000	0.64402	U	0.000001	D	0.970770	0.904500	M	0.86178	2.8	0.474410	D	0.999423	B;D;P;D	0.76494	0.132;0.971;0.933;0.999	P;D;P;D	0.77557	0.475;0.913;0.852;0.99	D	0.973140	0.993900	10	0.54805	T	0.06	.	13.759000	0.629540	0.0:1.0:0.0:0.0	.	121;121;121;121	B4DUT8;A6NFI4;Q99439;Q6FHE4	.;.;CNN2_HUMAN;.	K	121;121;100	ENSP00000263097:Q121K;ENSP00000340129:Q121K	ENSP00000263097:Q121K	Q	+	1	0	CNN2	983666	1	0.714170	1	0.803570	7.080000e-01	0.408520	7.177000	0.776500	1.827000	0.532210	0.306000	0.203180	CAG		TCGA-HZ-8519-01A-11D-2396-08	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	1	0	0	7	178	0	41	1	9.994875e-01	33	379	0	41	2		0	0	0	0	0	2	1	0.980477	7	176	0	40	2		0	0	0	0	41	2	-9.545517	1	0	0	0		1	0	1	1	1.982031	0	0.090000	2.020000	0.080065	0.840000	0.380000	1.000000	1.000000	0.807870	0.840000	0	0.580000	1.000000
ADAMTS4	9507	broad.mit.edu	37	1	161166457	161166457	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:161166457G>A	ENST00000367996.5	-	2	1275	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Missense_Mutation_p.P283S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4			43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)	Tinzaparin(DB06822)	GCAGCACTGGGCCCCACTTGG	0.632000																								0							SO:0001583	missense			ENST00000367996.5	1	1	hg19	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	1.536000	-0.543024	0.040530	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	D;D	0.85556	-2.0;-2.0	5.020000	4.100000	0.479360	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.197780	0.34932	N	0.003569	T	0.536740	0.181100	N	0.11789	0.175	0.390260	D	0.959836	B;B	0.17667	0.014;0.023	B;B	0.16722	0.005;0.016	T	0.509880	-0.876200	10	0.17369	T	0.5	.	9.376100	0.382830	0.1728:0.0:0.8272:0.0	.	283;283	Q5VTW1;O75173	.;ATS4_HUMAN	S	283	ENSP00000356975:P283S;ENSP00000356974:P283S	ENSP00000356974:P283S	P	-	1	0	ADAMTS4	159433081	0	0.058580	9.590000e-01	0.398830	9.980000e-01	0.957120	-0.310000	0.081350	1.350000	0.457700	0.555000	0.697020	CCC		TCGA-HZ-8519-01A-11D-2396-08	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	1	0	0	47	519	0	116	0	9.975126e-01	1	100	0	116	2		0	0	0	0	0	2	1	1.000000	46	510	0	114	2		0	0	0	0	116	2	-20.000000	1	1	0	0		1	2	2	4	2.122515	1	0.090000	2.020000	0.148976	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ARHGEF10L	55160	broad.mit.edu	37	1	18023723	18023723	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:18023723G>A	ENST00000361221.3	+	29	3847	c.3688G>A	c.(3688-3690)Gcc>Acc	p.A1230T	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A933T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A1191T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A1003T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A1191T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like			43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)			CGCCCGCGACGCCCACCGCAA	0.677000																								0							SO:0001583	missense			ENST00000361221.3	1	1	hg19	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	22.500000	4.293646	0.809140	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;T;T	0.61510	0.35;0.39;0.39;0.1;2.37	5.000000	3.130000	0.360170	.	0.166885	0.39544	N	0.001340	T	0.649290	0.264300	L	0.52364	1.645	0.392780	D	0.964508	P;D;P;D;D;D	0.89917	0.669;0.979;0.669;0.999;1.0;1.0	B;B;B;P;D;D	0.71870	0.115;0.389;0.115;0.847;0.975;0.961	T	0.618980	-0.696800	10	0.33141	T	0.24	-14.259	8.600600	0.337420	0.1809:0.0:0.8191:0.0	.	1003;933;991;1186;1191;1230	Q5VXI4;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;ARGAL_HUMAN	T	1230;1191;1191;1003;933	ENSP00000355060:A1230T;ENSP00000399401:A1191T;ENSP00000364564:A1191T;ENSP00000364557:A1003T;ENSP00000167825:A933T	ENSP00000167825:A933T	A	+	1	0	ARHGEF10L	17896310	5.380000e-01	0.263940	9.840000e-01	0.447390	9.670000e-01	0.649340	1.279000	0.331910	0.507000	0.281480	-0.136000	0.146810	GCC		TCGA-HZ-8519-01A-11D-2396-08	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	1	0	1	16	247	0	64	1	9.962447e-01	37	107	0	64	2		0	0	0	0	0	2	1	0.999935	16	244	0	62	2		0	0	0	0	64	2	-3.320048	1	1	120560	18	43	1	0	0	0	1.947673	0	0.090000	2.020000	0.059529	0.990000	0.710000	1.000000	1.000000	0.961954	0.990000	1	0.890000	1.000000
TMEM57	55219	broad.mit.edu	37	1	25785272	25785272	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:25785272G>T	ENST00000374343.4	+	6	1222	c.1043G>T	c.(1042-1044)aGt>aTt	p.S348I	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57			27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)			TCCTCATCTAGTAAAAATGAG	0.418000																								0							SO:0001583	missense			ENST00000374343.4	1	0	hg19	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	12.570000	1.978567	0.349420	.	.	ENSG00000204178	ENST00000374343	T	0.14144	2.53	5.780000	5.780000	0.914870	.	0.355028	0.36665	N	0.002474	T	0.165570	0.039800	L	0.57536	1.79	0.807220	D	1.000000	B	0.24043	0.096	B	0.21546	0.035	T	0.015080	-1.133700	10	0.37606	T	0.19	-4.0307	13.887800	0.637190	0.0:0.253:0.747:0.0	.	348	Q8N5G2	MACOI_HUMAN	I	348	ENSP00000363463:S348I	ENSP00000363463:S348I	S	+	2	0	TMEM57	25657859	9.980000e-01	0.408360	9.960000e-01	0.522420	9.880000e-01	0.763860	3.390000	0.525230	2.724000	0.932720	0.563000	0.778840	AGT		TCGA-HZ-8519-01A-11D-2396-08	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	1	0	1	28	661	0	113	1	8.613253e-01	14	70	0	113	2		0	0	0	0	0	2	1	1.000000	27	651	0	110	2		0	0	0	0	113	2	-4.176020	1	0	0	0		1	0	0	0	1.949978	0	0.090000	2.020000	0.060403	0.860000	0.590000	1.000000	1.000000	0.858412	0.860000	1	0.710000	1.000000
SPAG4	6676	broad.mit.edu	37	20	34204182	34204182	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr20:34204182A>G	ENST00000374273.3	+	1	369	c.257A>G	c.(256-258)aAc>aGc	p.N86S		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4			21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)		CGGAGCCACAACTGGCAGACA	0.736000																								0							SO:0001583	missense			ENST00000374273.3	0	1	hg19	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	A	12.200000	1.867046	0.329770	.	.	ENSG00000061656	ENST00000374273	T	0.13778	2.56	4.620000	-0.622000	0.115600	.	0.444886	0.20171	N	0.097736	T	0.075480	0.019000	L	0.27053	0.805	0.093100	N	1.000000	B	0.06786	0.001	B	0.04013	0.001	T	0.230480	-1.019900	10	0.49607	T	0.09	-15.5229	4.360500	0.111990	0.4206:0.3763:0.2031:0.0	.	86	Q9NPE6	SPAG4_HUMAN	S	86	ENSP00000363391:N86S	ENSP00000363391:N86S	N	+	2	0	SPAG4	33667596	9.400000e-02	0.217250	4.520000e-01	0.269940	8.060000e-01	0.455450	0.219000	0.176410	0.001000	0.146050	0.459000	0.354650	AAC		TCGA-HZ-8519-01A-11D-2396-08	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	1	0	0	6	52	0	10	0	1.530055e-02	0	2	0	10	2		0	0	0	0	0	2	1	0.965901	5	52	0	10	2		0	0	0	0	10	2	-14.784420	1	0	0	0		1	1	2	3	2.001811	0	0.090000	2.020000	0.096909	0.990000	0.860000	1.000000	1.000000	0.992001	0.990000	1	0.990000	1.000000
CHD6	84181	broad.mit.edu	37	20	40127944	40127944	+	Silent	SNP	A	A	G			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr20:40127944A>G	ENST00000373233.3	-	6	1083	c.906T>C	c.(904-906)acT>acC	p.T302T	CHD6_ENST00000373222.3_Silent_p.T337T|CHD6_ENST00000309279.7_Silent_p.T302T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6			129		Myeloproliferative disorder(115;0.00425)			CCTCCTGGACAGTCTTAGATG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000373233.3	0	1	hg19	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	10.170000	1.275613	0.233070	.	.	ENSG00000124177	ENST00000440697	.	.	.	4.440000	-6.540000	0.018600	.	.	.	.	.	T	0.463860	0.139000	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	T	0.477110	-0.909600	4	.	.	.	-6.3713	6.089800	0.199890	0.1718:0.214:0.5181:0.0962	.	.	.	.	P	5	.	.	L	-	2	0	CHD6	39561358	4.650000e-01	0.258150	8.610000e-01	0.338410	9.910000e-01	0.796840	-0.339000	0.078320	-1.366000	0.021550	0.459000	0.354650	CTG		TCGA-HZ-8519-01A-11D-2396-08	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	0	0	0	7	67	0	17	0	8.715764e-01	1	37	0	17	2		0	0	0	0	0	2	1	0.982377	7	67	0	17	2		0	0	0	0	17	2	-12.999840	1	0	0	0		1	1	2	3	2.001811	0	0.090000	2.020000	0.096909	0.990000	0.880000	1.000000	1.000000	0.992983	0.990000	1	0.990000	1.000000
TRIOBP	11078	broad.mit.edu	37	22	38120431	38120431	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr22:38120431A>T	ENST00000406386.3	+	7	2123	c.1868A>T	c.(1867-1869)aAc>aTc	p.N623I		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein			12	Melanoma(58;0.0574)				ACACGAGATAACCCCAGAACA	0.587000																								0							SO:0001583	missense			ENST00000406386.3	1	1	hg19	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	9.134000	1.012121	0.192770	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20738	2.05	2.170000	-0.564000	0.117740	.	.	.	.	.	T	0.119220	0.029000	L	0.46157	1.445	0.093100	N	1.000000	P	0.38565	0.637	B	0.23574	0.047	T	0.212110	-1.025200	9	0.56958	D	0.05	.	2.434900	0.044800	0.5132:0.2956:0.1911:0.0	.	623	Q9H2D6	TARA_HUMAN	I	623	ENSP00000384312:N623I	ENSP00000384312:N623I	N	+	2	0	TRIOBP	36450377	1.000000e-03	0.127200	1.000000e-03	0.086480	1.000000e-02	0.072450	-2.334000	0.011070	0.103000	0.176820	0.254000	0.183690	AAC		TCGA-HZ-8519-01A-11D-2396-08	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	0	0	0	55	815	0	148	0	0	0	1	0	148	2		0	0	0	0	0	2	1	1.000000	51	755	0	153	2		0	0	0	0	148	2	-9.451049	1	1	0	0		1	1	2	3	1.998530	0	0.090000	2.020000	0.096505	0.990000	0.990000	1.000000	1.000000	0.999761	0.990000	1	0.990000	1.000000
ANKRD44	91526	broad.mit.edu	37	2	197954726	197954726	+	Silent	SNP	A	A	G			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr2:197954726A>G	ENST00000328737.2	-	11	1132	c.1056T>C	c.(1054-1056)caT>caC	p.H352H	ANKRD44_ENST00000450567.1_Silent_p.H352H|ANKRD44_ENST00000337207.5_Silent_p.H352H|ANKRD44_ENST00000409153.1_Silent_p.H377H|ANKRD44_ENST00000477852.1_5'Flank|ANKRD44_ENST00000282272.8_Silent_p.H369H|ANKRD44_ENST00000539527.1_Silent_p.H305H			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44			45			OV - Ovarian serous cystadenocarcinoma(117;0.246)		GGGCAGCTAAATGTAAAGGGA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000328737.2	1	0	hg19																																																																																					TCGA-HZ-8519-01A-11D-2396-08	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	1	0	0	14	346	0	81	0	3.516644e-01	0	30	0	81	2		0	0	0	0	0	2	1	0.999768	14	346	0	81	2		0	0	0	0	81	2	-4.203121	1	0	0	0		1	1	2	3	2.012613	0	0.090000	2.020000	0.099322	0.940000	0.520000	1.000000	1.000000	0.877652	0.940000	1	0.700000	1.000000
TET2	54790	broad.mit.edu	37	4	106155620	106155620	+	Missense_Mutation	SNP	C	C	A	rs146031219	byFrequency	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr4:106155620C>A	ENST00000540549.1	+	3	1381	c.521C>A	c.(520-522)cCt>cAt	p.P174H	TET2_ENST00000380013.4_Missense_Mutation_p.P174H|TET2_ENST00000413648.2_Missense_Mutation_p.P174H|TET2_ENST00000305737.2_Missense_Mutation_p.P174H|TET2_ENST00000513237.1_Missense_Mutation_p.P195H|TET2_ENST00000394764.1_Missense_Mutation_p.P174H|TET2_ENST00000545826.1_Missense_Mutation_p.P174H			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	p.P174fs*9(1)		1314		Myeloproliferative disorder(5;0.0393)			TGCAGTGGGCCTGAAAATCCA	0.393000			Mis N, F		MDS										Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)						SO:0001583	missense			ENST00000540549.1	1	0	hg19	CCDS47120.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	6.293000	0.422103	0.119280	2.27E-4	0.001512	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.03580	3.88;4.51;3.88;4.51;4.51;3.88;3.89	5.280000	3.520000	0.403030	.	2.809240	0.02021	U	0.047775	T	0.032200	0.009400	N	0.08118	0	0.093100	N	1.000000	B;B;B	0.29571	0.05;0.05;0.249	B;B;B	0.30401	0.054;0.054;0.115	T	0.380670	-0.967800	10	0.62326	D	0.03	.	6.198400	0.205630	0.0:0.6803:0.154:0.1657	.	195;174;174	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	H	174;174;174;195;174;174;174;174	ENSP00000306705:P174H;ENSP00000442788:P174H;ENSP00000442867:P174H;ENSP00000425443:P195H;ENSP00000369351:P174H;ENSP00000378245:P174H;ENSP00000391448:P174H	ENSP00000265149:P174H	P	+	2	0	TET2	106375069	8.910000e-01	0.304500	2.390000e-01	0.241220	3.630000e-01	0.296120	0.776000	0.267040	0.573000	0.294000	0.655000	0.942530	CCT		TCGA-HZ-8519-01A-11D-2396-08	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	1	0	0	7	165	0	51	0	1.077360e-01	0	12	0	51	2		0	0	0	0	0	2	1	0.980888	7	164	0	51	2		0	0	0	0	51	2	-9.539270	1	0	121402	224	54	1	0	0	0	1.966895	0	0.090000	2.020000	0.069054	0.860000	0.400000	1.000000	1.000000	0.823615	0.860000	1	0.600000	1.000000
ATXN3L	92552	broad.mit.edu	37	X	13337260	13337260	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chrX:13337260T>C	ENST00000380622.2	-	1	1258	c.794A>G	c.(793-795)gAt>gGt	p.D265G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like			28					CTTTGGAAGATCTTGCGATGT	0.428000																								0							SO:0001583	missense			ENST00000380622.2	1	1	hg19	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	t	7.958000	0.746349	0.157100	.	.	ENSG00000123594	ENST00000380622	T	0.70869	-0.52	0.793000	0.793000	0.186320	.	0.520162	0.22506	N	0.059168	T	0.524840	0.173700	L	0.29908	0.895	0.220170	N	0.999410	P	0.41313	0.745	B	0.38880	0.284	T	0.493900	-0.894500	10	0.72032	D	0.01	.	5.575600	0.172200	0.0:0.0:0.0:1.0	.	265	Q9H3M9	ATX3L_HUMAN	G	265	ENSP00000369996:D265G	ENSP00000369996:D265G	D	-	2	0	ATXN3L	13247181	1.120000e-01	0.220960	2.770000e-01	0.247030	6.400000e-02	0.161820	0.777000	0.267180	0.549000	0.289730	0.341000	0.217570	GAT		TCGA-HZ-8519-01A-11D-2396-08	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	1	0	0	69	942	0	201		0	0	0	0	201	2		0	0	0	0	0	2	1	1.000000	67	934	0	199	2		0	0	0	0	201	2	-20.000000	1	1	0	0		1	0	1	1			0.090000	2.020000	0.090000	0.750000	0.590000	0.920000	0.750000	0.758681	0.750000	0	0.660000	0.840000
HDAC6	10013	broad.mit.edu	37	X	48664850	48664850	+	Silent	SNP	C	C	T	rs73209760	byFrequency	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chrX:48664850C>T	ENST00000334136.5	+	7	691	c.513C>T	c.(511-513)taC>taT	p.Y171Y	HDAC6_ENST00000413163.2_Silent_p.Y116Y|HDAC6_ENST00000376619.2_Silent_p.Y171Y|HDAC6_ENST00000444343.2_Silent_p.Y185Y|HDAC6_ENST00000469223.1_3'UTR			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6			40				Vorinostat(DB02546)	CAGACACCTACGACTCAGTTT	0.517000													Pancreas(112;205 1675 2305 8976 15959)											0							SO:0001819	synonymous_variant			ENST00000334136.5	1	0	hg19	CCDS14306.1																																																																																				TCGA-HZ-8519-01A-11D-2396-08	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	1	0	0	9	178	0	39	0	9.059901e-01	0	85	0	39	2		0	0	0	0	0	2	1	0.994567	9	178	0	39	2		0	0	0	0	39	2	-10.985310	1	0	121410	211	54	1	0	1	1			0.090000	2.020000	0.090000	0.530000	0.260000	0.870000	0.510000	0.550513	0.530000	0	0.380000	0.710000