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
HIST1H4E	8367	broad.mit.edu	37	6	26204947	26204948	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:26204947_26204948insA	ENST00000360441.4	+	1	90_91	c.75_76insA	c.(76-78)aacfs	p.N26fs		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e			18		all_hematologic(11;0.196)			TCCTGCGAGATAACATCCAGGG	0.584000																								0							SO:0001589	frameshift_variant			ENST00000360441.4	0	1	hg19	CCDS4593.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	1	0	0	27	483	0	103			0	0	0	103				0	0	0	0		1	1.000000	27	481	0	102	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	2.009768	0	0.160000	1.880000	0.154589	0.650000	0.440000	0.910000	0.660000	0.671506	0.650000	0	5.400000e-01	7.900000e-01
NKAPL	222698	broad.mit.edu	37	6	28227796	28227797	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:28227796_28227797insT	ENST00000343684.3	+	1	699_700	c.647_648insT	c.(646-651)tctgatfs	p.D217fs	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like			31					AATTCTGACTCTGATGATGATA	0.302000																								0							SO:0001589	frameshift_variant			ENST00000343684.3	0	1	hg19	CCDS34353.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1	1	0	0	23	304	0	38	0	5.526389e-03	0	2	0	38	2			0	0	0	0		1	0.999999	23	301	0	38	2	0	0	0	0	0	0		-2.598650	1	1	0	0		1	0	1	1	2.009768	0	0.160000	1.880000	0.154589	0.870000	0.570000	1.000000	1.000000	0.860767	0.870000	1	7.100000e-01	1
RBM28	55131	broad.mit.edu	37	7	127963635	127963642	+	Frame_Shift_Del	DEL	GCACGAAT	GCACGAAT	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:127963635_127963642delGCACGAAT	ENST00000223073.2	-	13	1456_1463	c.1342_1349delATTCGTGC	c.(1342-1350)attcgtgctfs	p.IRA448fs	RBM28_ENST00000415472.2_Frame_Shift_Del_p.IRA307fs|RBM28_ENST00000481788.1_5'Flank	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28			21					CTTCGTCCCAGCACGAATCACTGCAGAA	0.471000																								0							SO:0001589	frameshift_variant			ENST00000223073.2	1	1	hg19	CCDS5801.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	0	0	0	23	537	0	91	0	6.728583e-01	0	55	0	91	2			0	0	0	0		1	1.000000	29	539	0	90	2	0	0	0	0	0	0		-3.974658	1	1	0	0		1	2	2	4	2.126997	1	0.160000	1.880000	0.205749	0.590000	0.360000	1.000000	0.540000	0.658494	0.590000	0	4.600000e-01	1
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971004	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:21971003_21971004insA	ENST00000304494.5	-	2	624_625	c.354_355insT	c.(352-357)gctgagfs	p.E119fs	CDKN2A_ENST00000530628.2_Stop_Codon_Ins|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000579755.1_Stop_Codon_Ins|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000361570.3_Stop_Codon_Ins|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.E119fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.E68fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)		4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)			CCCAGCTCCTCAGCCAGGTCCA	0.728000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1369	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(4)|Substitution - Missense(2)|Deletion - Frameshift(1)|Complex - frameshift(1)|Nonstop extension(1)						SO:0001589	frameshift_variant			ENST00000304494.5	0	1	hg19	CCDS6510.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	24	191	0	23	1	9.999995e-01	3	197	0	23	2	1	1	67	585	0	514	2	1	1.000000	29	184	0	22	2	0	0	0	0	0	0		-10.824280	1	1	0	0		1	0	1	1	1.875499	1	0.160000	1.880000	0.086957	0.920000	0.700000	1.000000	0.990000	0.906810	0.920000	1	8.200000e-01	9.800000e-01
MYO3A	53904	broad.mit.edu	37	10	26243817	26243817	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:26243817G>T	ENST00000265944.5	+	4	349	c.183G>T	c.(181-183)gaG>gaT	p.E61D	MYO3A_ENST00000543632.1_Missense_Mutation_p.E61D|MYO3A_ENST00000376302.1_Missense_Mutation_p.E61D|MYO3A_ENST00000376301.1_Missense_Mutation_p.E61D	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA			146					TTGACGAAGAGATTGAAGCAG	0.323000																								0							SO:0001583	missense			ENST00000265944.5	1	1	hg19	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918823	0.73098	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	6.0	3.15	0.36227	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	0.67692	0.2920	N	0.20401	0.57	0.58432	D	0.999992	D;D;D;D	0.89917	0.957;0.965;1.0;0.978	P;D;D;D	0.97110	0.904;0.942;1.0;0.979	T	0.71122	-0.4684	10	0.72032	D	0.01	.	10.9035	0.47067	0.2392:0.0:0.7608:0.0	.	61;61;61;61	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	D	61	ENSP00000265944:E61D;ENSP00000365479:E61D;ENSP00000445909:E61D;ENSP00000365478:E61D	ENSP00000265944:E61D	E	+	3	2	MYO3A	26283823	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.128000	0.42045	1.558000	0.49541	0.643000	0.83706	GAG		TCGA-HZ-7926-01A-11D-2154-08	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	1	0	0	43	454	0	93	0	0	0	1	0	93	2		0	0	0	0	0	2	1	1.000000	43	447	0	92	2		0	0	0	0	93	2	-12.591220	1	1	0	0		1	0	1	1	1.894654	1	0.160000	1.880000	0.086957	0.890000	0.690000	1.000000	0.980000	0.889672	0.890000	1	8.000000e-01	9.700000e-01
UBQLN3	50613	broad.mit.edu	37	11	5529285	5529285	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:5529285G>T	ENST00000311659.4	-	2	1651	c.1504C>A	c.(1504-1506)Caa>Aaa	p.Q502K	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3			39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			AGCTGTGGTTGTATCTCATCC	0.587000													Ovarian(72;684 1260 12332 41642 52180)											0							SO:0001583	missense			ENST00000311659.4	1	1	hg19	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939872	0.18281	.	.	ENSG00000175520	ENST00000311659	T	0.35048	1.33	4.53	4.53	0.55603	.	0.461817	0.18254	N	0.146844	T	0.33089	0.0851	L	0.43152	1.355	0.21762	N	0.999559	B	0.15930	0.015	B	0.09377	0.004	T	0.20974	-1.0259	10	0.51188	T	0.08	.	15.1489	0.72681	0.0:0.0:1.0:0.0	.	502	Q9H347	UBQL3_HUMAN	K	502	ENSP00000347997:Q502K	ENSP00000347997:Q502K	Q	-	1	0	UBQLN3	5485861	0.387000	0.25188	0.402000	0.26371	0.171000	0.22731	2.771000	0.47670	2.499000	0.84300	0.655000	0.94253	CAA		TCGA-HZ-7926-01A-11D-2154-08	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	1	0	0	23	370	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	0.999999	23	360	0	68	2		0	0	0	0	69	2	-20.000000	1	1	0	0		1	0	0	0	1.885132	1	0.160000	1.880000	0.096386	0.670000	0.440000	0.950000	0.660000	0.687317	0.670000	0	5.400000e-01	8.200000e-01
GIF	2694	broad.mit.edu	37	11	59596985	59596985	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:59596985T>C	ENST00000257248.2	-	9	1273	c.1226A>G	c.(1225-1227)cAc>cGc	p.H409R	GIF_ENST00000541311.1_Missense_Mutation_p.H384R	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)			17				Cyanocobalamin(DB00115)	GGCTGTGATGTGCTCGTGGTT	0.443000													NSCLC(53;1139 1245 16872 38474 42853)											0							SO:0001583	missense			ENST00000257248.2	1	1	hg19	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182767	0.78677	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.41065	1.1;1.01	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.52435	0.1734	L	0.50333	1.59	0.44439	D	0.997368	D	0.71674	0.998	P	0.57283	0.817	T	0.51631	-0.8681	10	0.48119	T	0.1	-27.71	13.0268	0.58819	0.0:0.0:0.0:1.0	.	409	P27352	IF_HUMAN	R	409;384	ENSP00000257248:H409R;ENSP00000440427:H384R	ENSP00000257248:H409R	H	-	2	0	GIF	59353561	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.670000	0.54569	2.330000	0.79161	0.477000	0.44152	CAC		TCGA-HZ-7926-01A-11D-2154-08	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	1	0	0	14	213	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	0.999761	14	210	0	36	2		0	0	0	0	36	2	-17.797300	1	1	0	0		1	0	1	1	2.014243	0	0.160000	1.880000	0.151858	0.760000	0.440000	1.000000	1.000000	0.773338	0.760000	0	5.900000e-01	9.800000e-01
CHST11	50515	broad.mit.edu	37	12	105150940	105150940	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:105150940G>A	ENST00000303694.5	+	3	857	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	CHST11_ENST00000549260.1_Missense_Mutation_p.G135R	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11			18					GGTCCTGACCGGGCGGGGGAA	0.597000																								0							SO:0001583	missense			ENST00000303694.5	1	1	hg19	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834370	0.91036	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.73789	-0.78;-0.78;-0.78	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89259	0.6664	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.91028	0.4862	10	0.87932	D	0	-15.1321	19.4315	0.94772	0.0:0.0:1.0:0.0	.	135;140	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	R	135;140;100	ENSP00000450004:G135R;ENSP00000305725:G140R;ENSP00000449095:G100R	ENSP00000305725:G140R	G	+	1	0	CHST11	103675070	1.000000	0.71417	0.928000	0.36995	0.997000	0.91878	9.869000	0.99810	2.600000	0.87896	0.655000	0.94253	GGG		TCGA-HZ-7926-01A-11D-2154-08	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	1	0	1	22	315	0	55	1	9.649329e-01	20	61	0	55	2		0	0	0	0	0	2	1	0.999999	20	310	0	55	2		0	0	0	0	55	2	-2.774760	1	1	121412	2	34	1	0	0	0	1.983561	0	0.160000	1.880000	0.142157	0.790000	0.510000	1.000000	1.000000	0.802775	0.790000	0	6.400000e-01	9.700000e-01
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-7926-01A-11D-2154-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	15	108	0	27	1	9.879750e-01	10	46	0	27	2	1	1	55	498	0	353	2	1	0.999901	15	107	0	27	2	1	1	1284	6745	0	27	2	-9.284926	1	1	121404	2	44	1	1	2	3	2.049554	0	0.160000	1.880000	0.169304	0.990000	0.920000	1.000000	1.000000	0.995235	0.990000	1	9.900000e-01	1
PABPC3	5042	broad.mit.edu	37	13	25671664	25671664	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:25671664A>C	ENST00000281589.3	+	1	1365	c.1328A>C	c.(1327-1329)aAt>aCt	p.N443T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3			47		Lung SC(185;0.0225)|Breast(139;0.0602)			CCATTCCAAAATAAGCCCAGT	0.507000																								0							SO:0001583	missense			ENST00000281589.3	1	1	hg19	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	3.856	-0.030769	0.07543	.	.	ENSG00000151846	ENST00000281589	T	0.27557	1.66	0.875	0.875	0.19130	.	0.000000	0.50627	U	0.000110	T	0.21841	0.0526	L	0.52011	1.625	0.44899	D	0.997918	B	0.02656	0.0	B	0.10450	0.005	T	0.05500	-1.0881	10	0.22706	T	0.39	.	5.8995	0.18957	1.0:0.0:0.0:0.0	.	443	Q9H361	PABP3_HUMAN	T	443	ENSP00000281589:N443T	ENSP00000281589:N443T	N	+	2	0	PABPC3	24569664	1.000000	0.71417	0.963000	0.40424	0.160000	0.22226	3.947000	0.56652	0.632000	0.30432	0.260000	0.18958	AAT		TCGA-HZ-7926-01A-11D-2154-08	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	1	0	0	48	746	0	143	0	0	0	1	0	143	2		0	0	0	0	0	2	1	1.000000	47	645	0	143	2		0	0	0	0	143	2	-20.000000	1	1	0	0		1	0	1	1	1.876293	1	0.160000	1.880000	0.086957	0.680000	0.510000	0.880000	0.690000	0.697811	0.680000	0	5.900000e-01	7.900000e-01
FLT3	2322	broad.mit.edu	37	13	28622533	28622533	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:28622533C>T	ENST00000241453.7	-	9	1165	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	FLT3_ENST00000380982.4_Missense_Mutation_p.D362N|FLT3_ENST00000537084.1_Missense_Mutation_p.D362N	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3			12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCATATTGGTCAATTTCATAA	0.323000			Mis, O		AML, ALL										Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0							SO:0001583	missense			ENST00000241453.7	1	1	hg19	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896911	0.52121	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.76060	-0.92;-0.99;-0.7	5.45	5.45	0.79879	Immunoglobulin-like fold (1);	0.263771	0.32901	N	0.005511	T	0.69931	0.3166	L	0.27053	0.805	0.34801	D	0.736766	D;D	0.58620	0.966;0.983	P;P	0.51742	0.678;0.58	T	0.69412	-0.5152	10	0.10111	T	0.7	.	17.4634	0.87626	0.0:1.0:0.0:0.0	.	362;362	P36888-2;P36888	.;FLT3_HUMAN	N	362	ENSP00000241453:D362N;ENSP00000370369:D362N;ENSP00000438139:D362N	ENSP00000241453:D362N	D	-	1	0	FLT3	27520533	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.429000	0.52800	2.572000	0.86782	0.462000	0.41574	GAC		TCGA-HZ-7926-01A-11D-2154-08	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2	1	0	1	32	214	0	55	0	8.976144e-02	0	4	0	55	2		0	0	0	0	0	2	1	1.000000	31	212	0	55	2		0	0	0	0	55	2	-20.000000	1	1	121412	2	31	1	0	1	1	1.876293	1	0.160000	1.880000	0.086957	0.950000	0.780000	1.000000	0.990000	0.939454	0.950000	1	8.800000e-01	9.900000e-01
ATL1	51062	broad.mit.edu	37	14	51094836	51094836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:51094836C>T	ENST00000358385.6	+	12	1448	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	ATL1_ENST00000354525.4_Nonsense_Mutation_p.R403*|ATL1_ENST00000357032.3_Nonsense_Mutation_p.R403*|ATL1_ENST00000441560.2_Nonsense_Mutation_p.R403*	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1			18					GAAGCTATTCCGAGGGGTGAA	0.443000																								0							SO:0001587	stop_gained			ENST00000358385.6	0	1	hg19	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	C	40	8.204160	0.98704	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-6.6736	19.2865	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	403	.	ENSP00000346522:R403X	R	+	1	2	ATL1	50164586	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.936000	0.63506	2.802000	0.96397	0.655000	0.94253	CGA		TCGA-HZ-7926-01A-11D-2154-08	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2	1	0	0	21	319	0	71	0	7.427205e-01	1	41	0	71	2		0	0	0	0	0	2	1	0.999997	19	315	0	71	2		0	0	0	0	71	2	-2.598117	1	1	0	0		1	0	1	1	2.000627	0	0.160000	1.880000	0.151858	0.760000	0.490000	1.000000	1.000000	0.774580	0.760000	0	6.100000e-01	9.400000e-01
KCNK13	56659	broad.mit.edu	37	14	90650874	90650874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:90650874G>T	ENST00000282146.4	+	2	1195	c.754G>T	c.(754-756)Gag>Tag	p.E252*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13			25		all_cancers(154;0.186)			CGCCCACTATGAGAGCCAAGG	0.493000																								0							SO:0001587	stop_gained			ENST00000282146.4	0	1	hg19	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158982	0.94686	.	.	ENSG00000152315	ENST00000282146	.	.	.	5.42	2.49	0.30216	.	0.955768	0.08571	N	0.926120	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	8.8689	0.35303	0.1376:0.1231:0.7393:0.0	.	.	.	.	X	252	.	ENSP00000282146:E252X	E	+	1	0	KCNK13	89720627	0.999000	0.42202	0.003000	0.11579	0.127000	0.20565	4.148000	0.58085	0.655000	0.30866	-0.137000	0.14449	GAG		TCGA-HZ-7926-01A-11D-2154-08	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	1	0	0	31	472	0	67	0	1.184349e-02	0	3	0	67	2		0	0	0	0	0	2	1	1.000000	30	465	0	66	2		0	0	0	0	67	2	-20.000000	1	1	0	0		1	0	1	1	2.015903	0	0.160000	1.880000	0.155949	0.760000	0.530000	1.000000	1.000000	0.775898	0.760000	0	6.400000e-01	9.100000e-01
CSK	1445	broad.mit.edu	37	15	75091650	75091650	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:75091650C>T	ENST00000220003.9	+	5	1009	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSK_ENST00000567571.1_Missense_Mutation_p.R94W|CSK_ENST00000309470.9_Missense_Mutation_p.R94W|CSK_ENST00000439220.2_Missense_Mutation_p.R94W	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase			3					GCAGGCTGAGCGGCTTCTGTA	0.637000																								0							SO:0001583	missense			ENST00000220003.9	1	1	hg19	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086457	0.76642	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000309470	D;D;D	0.89875	-2.58;-2.58;-2.58	4.63	2.6	0.31112	SH2 motif (5);	0.068217	0.64402	D	0.000020	D	0.93148	0.7818	M	0.85373	2.75	0.80722	D	1	D	0.69078	0.997	P	0.58928	0.848	D	0.93959	0.7239	10	0.87932	D	0	-21.5651	13.0337	0.58859	0.3937:0.6063:0.0:0.0	.	94	P41240	CSK_HUMAN	W	94	ENSP00000220003:R94W;ENSP00000414764:R94W;ENSP00000438808:R94W	ENSP00000220003:R94W	R	+	1	2	CSK	72878703	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.164000	0.31810	1.148000	0.42385	-0.500000	0.04577	CGG		TCGA-HZ-7926-01A-11D-2154-08	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	1	0	0	15	238	0	37	1	9.996585e-01	10	207	0	37	2		0	0	0	0	0	2	1	0.999863	15	232	0	36	2		0	0	0	0	37	2	-17.928910	1	1	0	0		1	0	2	2	1.918771	0	0.160000	1.880000	0.160000	0.750000	0.440000	1.000000	1.000000	0.758259	0.750000	0	5.800000e-01	9.600000e-01
TSC2	7249	broad.mit.edu	37	16	2137908	2137908	+	Silent	SNP	C	C	T	rs45467993		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:2137908C>T	ENST00000219476.3	+	39	5664	c.5034C>T	c.(5032-5034)taC>taT	p.Y1678Y	TSC2_ENST00000353929.4_Silent_p.Y1635Y|MIR1225_ENST00000408729.1_RNA|TSC2_ENST00000439673.2_Silent_p.Y1575Y|TSC2_ENST00000401874.2_Silent_p.Y1611Y|TSC2_ENST00000350773.4_Silent_p.Y1655Y|TSC2_ENST00000382538.6_Silent_p.Y1563Y|TSC2_ENST00000568454.1_Silent_p.Y1622Y	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2			56		Hepatocellular(780;0.0202)			CGCTGGACTACGAGTGCAACC	0.642000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0		GRCh37	CM054870	TSC2	M	rs45467993	SO:0001819	synonymous_variant	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000219476.3	1	1	hg19	CCDS10458.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	0	11	229	0	54	1	9.701751e-01	12	115	0	54	2		0	0	0	0	0	2	1	0.998332	10	227	0	53	2		0	0	0	0	54	2	-13.034440	1	1	121206	4	37	1	1	2	3	2.020720	0	0.160000	1.880000	0.163347	0.590000	0.310000	1.000000	0.560000	0.622124	0.590000	0	4.300000e-01	8.100000e-01
ZNF75A	7627	broad.mit.edu	37	16	3367798	3367798	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:3367798A>G	ENST00000574298.1	+	6	1293	c.820A>G	c.(820-822)Act>Gct	p.T274A	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a			12					GCAGCCATATACTTGTAGCAT	0.463000																								0							SO:0001583	missense			ENST00000574298.1	1	1	hg19	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	A	3.920	-0.018269	0.07681	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.46	-2.76	0.05896	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.109970	0.06937	N	0.812053	T	0.16385	0.0394	N	0.04297	-0.235	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.25847	-1.0120	9	0.51188	T	0.08	.	6.3677	0.21463	0.2835:0.0:0.0837:0.6328	.	274	Q96N20	ZN75A_HUMAN	A	274	.	ENSP00000293995:T274A	T	+	1	0	ZNF75A	3307799	0.000000	0.05858	0.000000	0.03702	0.771000	0.43674	-2.209000	0.01228	-0.674000	0.05253	0.455000	0.32223	ACT		TCGA-HZ-7926-01A-11D-2154-08	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	1	0	1	27	495	0	92	1	6.519972e-01	8	34	0	92	2		0	0	0	0	0	2	1	1.000000	27	488	0	92	2		0	0	0	0	92	2	-20.000000	1	1	0	0		1	1	2	3	2.020720	0	0.160000	1.880000	0.163347	0.650000	0.440000	1.000000	0.640000	0.676459	0.650000	0	5.400000e-01	8.000000e-01
MED1	5469	broad.mit.edu	37	17	37565585	37565585	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:37565585T>G	ENST00000300651.6	-	17	3112	c.2889A>C	c.(2887-2889)ttA>ttC	p.L963F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1			59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)		TTTCTTTCCCTAAGTCCCCAG	0.483000										HNSCC(31;0.082)			Pancreas(21;279 768 2492 4877 24026)											0							SO:0001583	missense			ENST00000300651.6	1	1	hg19	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941018	0.34283	.	.	ENSG00000125686	ENST00000300651	T	0.33865	1.39	5.65	3.4	0.38934	.	.	.	.	.	T	0.16685	0.0401	N	0.12182	0.205	0.53688	D	0.999973	B	0.06786	0.001	B	0.06405	0.002	T	0.05971	-1.0853	9	0.09590	T	0.72	-0.6855	7.2644	0.26222	0.0:0.2903:0.0:0.7097	.	963	Q15648	MED1_HUMAN	F	963	ENSP00000300651:L963F	ENSP00000300651:L963F	L	-	3	2	MED1	34819111	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.767000	0.26575	1.165000	0.42670	0.533000	0.62120	TTA		TCGA-HZ-7926-01A-11D-2154-08	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	1	0	0	11	216	0	53	1	7.047300e-01	4	45	0	53	2		0	0	0	0	0	2	1	0.998249	11	211	0	53	2		0	0	0	0	53	2	-4.324474	1	1	0	0		1	1	2	3	2.020617	0	0.160000	1.880000	0.163347	0.630000	0.330000	1.000000	1.000000	0.653078	0.630000	0	4.600000e-01	8.500000e-01
TRMT1	55621	broad.mit.edu	37	19	13227177	13227177	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:13227177G>A	ENST00000592062.1	-	3	607	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000357720.4_Missense_Mutation_p.R13C|NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000437766.1_Missense_Mutation_p.R13C|TRMT1_ENST00000221504.8_Missense_Mutation_p.R13C			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)			14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)		CGGGCGGAGCGGAAAGTGAGG	0.657000																								0							SO:0001583	missense			ENST00000592062.1	1	1	hg19	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396554	0.42512	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	5.28	3.15	0.36227	.	0.180442	0.31772	N	0.007085	T	0.34366	0.0895	L	0.27053	0.805	0.19300	N	0.999976	D;D	0.71674	0.998;0.997	P;P	0.53861	0.736;0.548	T	0.10064	-1.0646	9	0.72032	D	0.01	-15.9499	8.3666	0.32391	0.1833:0.0:0.8167:0.0	.	13;13	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	C	13	.	ENSP00000221504:R13C	R	-	1	0	TRMT1	13088177	0.973000	0.33851	0.106000	0.21319	0.003000	0.03518	2.511000	0.45476	0.728000	0.32382	-0.140000	0.14226	CGC		TCGA-HZ-7926-01A-11D-2154-08	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	1	0	0	17	339	0	58	0	6.507543e-01	0	45	0	58	2		0	0	0	0	0	2	1	0.999961	17	331	0	58	2		0	0	0	0	58	2	-18.077450	1	1	0	0		1	0	1	1	2.016097	0	0.160000	1.880000	0.155949	0.590000	0.360000	0.890000	0.580000	0.615449	0.590000	0	4.700000e-01	7.500000e-01
CABP5	56344	broad.mit.edu	37	19	48537514	48537514	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:48537514G>A	ENST00000293255.2	-	5	584	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5			11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)			TCAGCCTCCCGGACAACCTCA	0.617000																								0							SO:0001583	missense			ENST00000293255.2	1	1	hg19	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197685	0.79015	.	.	ENSG00000105507	ENST00000293255	T	0.73469	-0.75	5.01	5.01	0.66863	EF-hand-like domain (1);	0.424187	0.24642	N	0.036784	D	0.82393	0.5027	M	0.79926	2.475	0.42202	D	0.991774	D	0.54207	0.965	P	0.51777	0.679	D	0.85894	0.1430	10	0.87932	D	0	-0.4457	16.1949	0.82021	0.0:0.0:1.0:0.0	.	152	Q9NP86	CABP5_HUMAN	W	152	ENSP00000293255:R152W	ENSP00000293255:R152W	R	-	1	2	CABP5	53229326	0.002000	0.14202	0.723000	0.30687	0.981000	0.71138	0.819000	0.27308	2.509000	0.84616	0.561000	0.74099	CGG		TCGA-HZ-7926-01A-11D-2154-08	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	1	0	1	26	214	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1.000000	24	209	0	46	2		0	0	0	0	46	2	-3.318835	1	1	121410	1	33	1	0	1	1	2.010911	0	0.160000	1.880000	0.154589	0.990000	0.900000	1.000000	1.000000	0.994568	0.990000	1	9.900000e-01	1
ZSCAN1	284312	broad.mit.edu	37	19	58549468	58549468	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:58549468C>T	ENST00000282326.1	+	3	511	c.264C>T	c.(262-264)ggC>ggT	p.G88G	ZSCAN1_ENST00000391700.1_Silent_p.G88G|ZSCAN1_ENST00000601162.1_Silent_p.G88G	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1			48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			AGTTCCTGGGCGCGCTGCCCA	0.697000																								0							SO:0001819	synonymous_variant			ENST00000282326.1	1	1	hg19	CCDS12969.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	1	0	0	9	116	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	0.994366	9	114	0	29	2		0	0	0	0	30	2	-13.570830	1	1	120990	2	30	1	1	2	3	2.047905	0	0.160000	1.880000	0.171271	0.980000	0.470000	1.000000	1.000000	0.880941	0.980000	1	6.900000e-01	1
CLEC4M	10332	broad.mit.edu	37	19	7833838	7833838	+	Silent	SNP	C	C	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:7833838C>A	ENST00000327325.5	+	7	1282	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000248228.4_Silent_p.I366I|CLEC4M_ENST00000595496.1_Silent_p.I252I|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000596707.1_Silent_p.I321I|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000359059.5_Silent_p.I321I|CLEC4M_ENST00000334806.5_Silent_p.I337I|CLEC4M_ENST00000394122.2_Silent_p.I376I	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M			26					ATTACTGGATCTGCAAAAAGC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000327325.5	1	1	hg19	CCDS12187.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	1	0	0	24	387	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1.000000	24	380	0	68	2		0	0	0	0	68	2	-20.000000	1	1	0	0		1	0	1	1	2.012408	0	0.160000	1.880000	0.153226	0.720000	0.470000	1.000000	1.000000	0.737314	0.720000	0	5.900000e-01	8.800000e-01
MUC1	4582	broad.mit.edu	37	1	155160807	155160807	+	Silent	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:155160807G>A	ENST00000368395.1	-	3	791	c.720C>T	c.(718-720)agC>agT	p.S240S	RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368398.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated			10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		GAGGTACCGTGCTATGGTGAG	0.507000			T	IGH@	B-NHL										Dom	yes		1	1q21	4582	mucin 1, transmembrane		L	0							SO:0001819	synonymous_variant			ENST00000368395.1	1	1	hg19	CCDS55640.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	1	0	0	34	236	0	45	1	1	624	5067	0	45	2		0	0	0	0	0	2	1	1.000000	33	232	0	45	2		0	0	0	0	45	2	-15.324850	1	1	0	0		1	1	2	3	2.111113	1	0.160000	1.880000	0.181606	0.990000	0.990000	1.000000	1.000000	0.999867	0.990000	1	9.900000e-01	1
OR10K1	391109	broad.mit.edu	37	1	158435756	158435756	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:158435756C>T	ENST00000289451.2	+	1	485	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1			27	all_hematologic(112;0.0378)				ACTCAGTGCTCATGGGACATG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000289451.2	1	1	hg19	CCDS30897.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1	1	0	1	97	758	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1.000000	94	724	0	124	2		0	0	0	0	131	2	-3.318794	1	1	0	0		1	1	2	3	2.111113	1	0.160000	1.880000	0.181606	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
DDR2	4921	broad.mit.edu	37	1	162688902	162688902	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:162688902A>G	ENST00000367922.3	+	4	487	c.49A>G	c.(49-51)Atc>Gtc	p.I17V	DDR2_ENST00000367921.3_Missense_Mutation_p.I17V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2			7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)	Regorafenib(DB08896)	GCTGCTGCCTATCTTGAGTTC	0.438000													NSCLC(161;314 2006 8283 19651 23192)											0							SO:0001583	missense			ENST00000367922.3	1	1	hg19	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	A	2.456	-0.325175	0.05350	.	.	ENSG00000162733	ENST00000446985;ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	D;D;D;D	0.97642	-4.2;-4.47;-1.68;-1.68	4.25	-2.92	0.05615	.	0.491466	0.19764	N	0.106619	T	0.82226	0.4991	N	0.25647	0.755	0.26350	N	0.977213	B	0.06786	0.001	B	0.04013	0.001	T	0.68622	-0.5360	9	0.19590	T	0.45	.	2.942	0.05834	0.3119:0.45:0.0921:0.146	.	17	Q16832	DDR2_HUMAN	V	17	ENSP00000400309:I17V;ENSP00000391310:I17V;ENSP00000356899:I17V;ENSP00000356898:I17V	ENSP00000356898:I17V	I	+	1	0	DDR2	160955526	0.076000	0.21285	0.303000	0.25071	0.931000	0.56810	-0.197000	0.09518	-0.682000	0.05197	-0.605000	0.04089	ATC		TCGA-HZ-7926-01A-11D-2154-08	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	1	0	1	48	393	0	82	0	7.319722e-01	0	23	0	82	2		0	0	0	0	0	2	1	1.000000	48	387	0	81	2		0	0	0	0	82	2	-20.000000	1	1	0	0		1	1	2	3	2.111113	1	0.160000	1.880000	0.181606	0.990000	0.990000	1.000000	1.000000	0.999591	0.990000	1	9.900000e-01	1
NBPF1	55672	broad.mit.edu	37	1	16918794	16918794	+	Translation_Start_Site	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:16918794G>A	ENST00000430580.2	-	0	712					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1								TGTGGCCAGCGTGCCAGGTAA	0.502000																								0											ENST00000430580.2	0	1	hg19																																																																																					TCGA-HZ-7926-01A-11D-2154-08	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	0	0	0	7	69	0	10	1	8.157118e-01	2	31	0	10	2		0	0	0	0	0	2	1	0.964224	6	56	0	10	2		0	0	0	0	10	2	-2.356422	0	1	0	0		1						0.160000	1.880000									0	0
MIA3	375056	broad.mit.edu	37	1	222835427	222835427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:222835427C>T	ENST00000344922.5	+	25	5168	c.5143C>T	c.(5143-5145)Cga>Tga	p.R1715*	RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Nonsense_Mutation_p.R593*|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Nonsense_Mutation_p.R1715*	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3			80					ACCTCATCCTCGATGGTCAGC	0.443000																								0							SO:0001587	stop_gained			ENST00000344922.5	0	1	hg19	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	42	9.607272	0.99217	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	.	.	.	5.14	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.457	0.61204	0.5192:0.4808:0.0:0.0	.	.	.	.	X	1715;1715;1656;593;593	.	ENSP00000284471:R593X	R	+	1	2	MIA3	220902050	0.006000	0.16342	0.004000	0.12327	0.130000	0.20726	0.825000	0.27393	0.624000	0.30286	-0.181000	0.13052	CGA		TCGA-HZ-7926-01A-11D-2154-08	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	1	0	1	43	310	0	63	1	9.999948e-01	5	128	0	63	2		0	0	0	0	0	2	1	1.000000	43	308	0	62	2		0	0	0	0	63	2	-3.017792	1	1	0	0		1	1	2	3	2.072648	0	0.160000	1.880000	0.173879	0.990000	0.990000	1.000000	1.000000	0.999903	0.990000	1	9.900000e-01	1
NLRP3	114548	broad.mit.edu	37	1	247592989	247592989	+	Silent	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:247592989G>A	ENST00000336119.3	+	4	3005	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Silent_p.L753L|NLRP3_ENST00000366496.2_Silent_p.L753L|NLRP3_ENST00000366497.2_Silent_p.L753L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3			142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		ACAATTCTCTGGGGGACCCAG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000336119.3	1	1	hg19	CCDS1632.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	1	0	0	22	386	0	65	0	2.896669e-02	0	5	0	65	2		0	0	0	0	0	2	1	0.999999	22	383	0	65	2		0	0	0	0	65	2	-2.804967	1	1	0	0		1	1	2	3	2.072648	0	0.160000	1.880000	0.173879	0.720000	0.450000	1.000000	1.000000	0.749587	0.720000	0	5.700000e-01	1
CCDC18	343099	broad.mit.edu	37	1	93672842	93672842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:93672842G>T	ENST00000343253.7	+	9	1598	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	CCDC18_ENST00000401026.3_Nonsense_Mutation_p.E366*|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.E484*|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Nonsense_Mutation_p.E165*			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18			42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)			TGAAAACCGAGAATTAAAGGT	0.333000																								0							SO:0001587	stop_gained			ENST00000343253.7	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.984821|5.984821	0.97173|0.97173	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.164121|0.164121	0.52532|0.52532	D|D	0.000077|0.000077	T|.	0.59783|.	0.2219|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53085|.	-0.8488|.	5|.	.|0.22109	.|T	.|0.4	.|.	18.2995|18.2995	0.90158|0.90158	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	419|366;366;484;165;86	.|.	.|ENSP00000344380:E165X	E|E	+|+	3|1	2|0	CCDC18|CCDC18	93445430|93445430	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.263000|4.263000	0.58853|0.58853	2.763000|2.763000	0.94921|0.94921	0.555000|0.555000	0.69702|0.69702	GAG|GAA		TCGA-HZ-7926-01A-11D-2154-08	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	1	0	0	14	235	0	41	0	2.062390e-02	0	3	0	41	2		0	0	0	0	0	2	1	0.999745	14	230	0	41	2		0	0	0	0	41	2	-17.022350	1	1	0	0		1	0	0	0	1.903721	0	0.160000	1.880000	0.105622	0.650000	0.380000	1.000000	1.000000	0.673774	0.650000	0	5.000000e-01	8.400000e-01
FOXS1	2307	broad.mit.edu	37	20	30432695	30432695	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:30432695C>T	ENST00000375978.3	-	1	725	c.651G>A	c.(649-651)gcG>gcA	p.A217A		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1			9					GAAAGCCAAACGCTGGGCATG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000375978.3	1	1	hg19	CCDS13192.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	1	0	1	34	267	0	48	1	9.605592e-01	8	36	0	48	2		0	0	0	0	0	2	1	1.000000	33	263	0	47	2		0	0	0	0	48	2	-20.000000	1	1	0	0		1	1	2	3	2.027936	0	0.160000	1.880000	0.164678	0.990000	0.990000	1.000000	1.000000	0.998743	0.990000	1	9.900000e-01	1
MATN4	8785	broad.mit.edu	37	20	43926857	43926857	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:43926857C>T	ENST00000372754.1	-	7	1510	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	MATN4_ENST00000537548.1_Missense_Mutation_p.R460H|MATN4_ENST00000353917.5_Missense_Mutation_p.R378H|MATN4_ENST00000372751.4_Missense_Mutation_p.R311H|MATN4_ENST00000372756.1_Missense_Mutation_p.R460H|MATN4_ENST00000342716.4_Missense_Mutation_p.R460H|MATN4_ENST00000360607.6_Missense_Mutation_p.R419H			O95460	MATN4_HUMAN	matrilin 4			27		Myeloproliferative disorder(115;0.0122)			ATCCTGGGAGCGGCCATCCGT	0.672000																								0							SO:0001583	missense			ENST00000372754.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.239741	0.95240	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.46	5.46	0.80206	.	0.000000	0.44902	D	0.000411	D	0.92456	0.7605	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.97;0.999	D	0.93464	0.6813	10	0.87932	D	0	.	18.3439	0.90314	0.0:1.0:0.0:0.0	.	378;419;460	A6NNA4;O95460-4;O95460-2	.;.;.	H	311;501;460;378;419;460;460;501;311	ENSP00000361839:R311H;ENSP00000361840:R501H;ENSP00000361842:R460H;ENSP00000243983:R378H;ENSP00000353819:R419H;ENSP00000343164:R460H;ENSP00000440328:R460H;ENSP00000361837:R311H	ENSP00000255132:R501H	R	-	2	0	MATN4	43360271	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.759000	0.85235	2.559000	0.86315	0.644000	0.83932	CGC		TCGA-HZ-7926-01A-11D-2154-08	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1	1	0	0	32	381	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1.000000	32	375	0	72	2		0	0	0	0	73	2	-9.181191	1	1	0	0		1	1	2	3	2.027936	0	0.160000	1.880000	0.164678	0.980000	0.680000	1.000000	1.000000	0.931718	0.980000	1	8.200000e-01	1
MAP2	4133	broad.mit.edu	37	2	210559008	210559008	+	Missense_Mutation	SNP	C	C	T	rs146432517		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:210559008C>T	ENST00000360351.4	+	7	2620	c.2114C>T	c.(2113-2115)cCg>cTg	p.P705L	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P701L|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	p.P705L(1)		124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATCAATTTGCCGATGTCTTGC	0.438000													Pancreas(27;423 979 28787 29963)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000360351.4	1	1	hg19	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342024	0.81911	0.0	1.16E-4	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.28666	1.6;1.6	6.06	6.06	0.98353	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000006	T	0.55832	0.1945	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	T	0.52682	-0.8543	10	0.87932	D	0	-13.3508	20.6244	0.99512	0.0:1.0:0.0:0.0	.	701;705	P11137-3;P11137	.;MAP2_HUMAN	L	705;701	ENSP00000353508:P705L;ENSP00000392164:P701L	ENSP00000353508:P705L	P	+	2	0	MAP2	210267253	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.238000	0.78173	2.879000	0.98667	0.650000	0.86243	CCG		TCGA-HZ-7926-01A-11D-2154-08	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	1	0	1	117	930	0	164		0	0	0	0	164	2		0	0	0	0	0	2	1	1.000000	116	909	0	163	2		0	0	0	0	164	2	-2.966611	1	1	0	0		1	1	2	3	2.102214	1	0.160000	1.880000	0.179688	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ERBB4	2066	broad.mit.edu	37	2	212589903	212589903	+	Silent	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:212589903A>G	ENST00000342788.4	-	6	949	c.639T>C	c.(637-639)tgT>tgC	p.C213C	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Silent_p.C213C|ERBB4_ENST00000436443.1_Silent_p.C213C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4			179		Renal(323;0.06)|Lung NSC(271;0.197)		Afatinib(DB08916)	ATTGTTCTGCACACACCGTCC	0.507000										TSP Lung(8;0.080)														0							SO:0001819	synonymous_variant			ENST00000342788.4	1	1	hg19	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513447	0.27123	.	.	ENSG00000178568	ENST00000260943	.	.	.	5.73	3.36	0.38483	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53365	-0.8449	4	.	.	.	.	8.2245	0.31560	0.7842:0.0:0.2158:0.0	.	.	.	.	A	213	.	.	V	-	2	0	ERBB4	212298148	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.777000	0.38604	0.983000	0.38602	0.528000	0.53228	GTG		TCGA-HZ-7926-01A-11D-2154-08	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	0	14	403	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	0.999743	14	398	0	55	2		0	0	0	0	55	2	-13.822640	1	1	0	0		1	1	2	3	2.102214	1	0.160000	1.880000	0.179688	0.470000	0.250000	1.000000	0.420000	0.563728	0.470000	0	3.400000e-01	1
OBSL1	23363	broad.mit.edu	37	2	220420834	220420834	+	Missense_Mutation	SNP	C	C	T	rs138086602	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:220420834C>T	ENST00000404537.1	-	14	4573	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	OBSL1_ENST00000265318.4_Missense_Mutation_p.A1373T|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1506H|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265317.5_Missense_Mutation_p.R405H|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1414H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	p.R1506H(1)				Renal(207;0.0376)			GATGAAGAGGCGGTGGATGTG	0.697000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000404537.1	1	1	hg19	CCDS46520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.478052|4.478052	0.84747|0.84747	.|.	.|.	ENSG00000124006|ENSG00000124006	ENST00000265318;ENST00000456147|ENST00000404537;ENST00000373876;ENST00000265317	T|T;T;T	0.57273|0.67865	0.41|-0.29;-0.29;-0.29	4.49|4.49	4.49|4.49	0.54785|0.54785	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.73458|0.73458	0.3589|0.3589	L|L	0.39147|0.39147	1.195|1.195	0.22940|0.22940	N|N	0.998532|0.998532	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999	.|D;D;D;D	.|0.74674	.|0.964;0.977;0.982;0.984	T|T	0.62642|0.62642	-0.6811|-0.6811	7|9	0.06099|0.45353	T|T	0.92|0.12	.|.	11.9214|11.9214	0.52793|0.52793	0.0:0.6679:0.3321:0.0|0.0:0.6679:0.3321:0.0	.|.	.|313;1507;1506;405	.|B7Z5P5;A4KVA4;O75147;E7ER99	.|.;.;OBSL1_HUMAN;.	T|H	1373;408|1506;1414;405	ENSP00000265318:A1373T|ENSP00000385636:R1506H;ENSP00000362983:R1414H;ENSP00000265317:R405H	ENSP00000265318:A1373T|ENSP00000265317:R405H	A|R	-|-	1|2	0|0	OBSL1|OBSL1	220129078|220129078	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	2.024000|2.024000	0.41049|0.41049	2.327000|2.327000	0.79052|0.79052	0.491000|0.491000	0.48974|0.48974	GCC|CGC		TCGA-HZ-7926-01A-11D-2154-08	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1	1	0	1	22	186	0	35	1	9.375234e-01	7	34	0	35	2		0	0	0	0	0	2	1	0.999999	19	182	0	35	2		0	0	0	0	35	2	-2.578509	1	1	121020	3	34	1	1	2	3	2.102214	1	0.160000	1.880000	0.179688	0.990000	0.900000	1.000000	1.000000	0.994524	0.990000	1	9.900000e-01	1
UGP2	7360	broad.mit.edu	37	2	64117306	64117306	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:64117306A>G	ENST00000337130.5	+	9	1882	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S	UGP2_ENST00000394417.2_Missense_Mutation_p.N458S|UGP2_ENST00000467648.2_Missense_Mutation_p.N458S|UGP2_ENST00000445915.2_Missense_Mutation_p.N478S	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2			18					TTTGGAAAAAATGTTTCATTA	0.289000																								0							SO:0001583	missense			ENST00000337130.5	1	1	hg19	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421711	0.62622	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.82	5.82	0.92795	.	0.129339	0.64402	D	0.000001	T	0.22205	0.0535	L	0.45051	1.395	0.80722	D	1	P;P	0.42337	0.776;0.494	B;B	0.39935	0.314;0.314	T	0.01152	-1.1435	10	0.45353	T	0.12	-6.9138	16.1814	0.81903	1.0:0.0:0.0:0.0	.	478;469	E7EUC7;Q16851	.;UGPA_HUMAN	S	458;458;469;478	ENSP00000377939:N458S;ENSP00000420793:N458S;ENSP00000338703:N469S;ENSP00000411803:N478S	ENSP00000338703:N469S	N	+	2	0	UGP2	63970810	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.234000	0.73211	0.533000	0.62120	AAT		TCGA-HZ-7926-01A-11D-2154-08	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	1	0	1	29	255	0	25	1	1	79	398	0	25	2		0	0	0	0	0	2	1	1.000000	28	253	0	24	2		0	0	0	0	25	2	-20.000000	1	1	121374	3	32	1	2	2	4	2.129790	1	0.160000	1.880000	0.206949	0.990000	0.950000	1.000000	1.000000	0.997101	0.990000	1	9.900000e-01	1
PAIP2B	400961	broad.mit.edu	37	2	71417026	71417026	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:71417026C>T	ENST00000244221.8	-	3	430	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B			2					CATTTAACTGCTGTTGCAACT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000244221.8	0	1	hg19	CCDS46322.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	PAIP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330547.2	0	0	0	4	41	0	11	0	4.295810e-01	0	14	0	11	2		0	0	0	0	0	2	0	0.870158	0	41	0	11	2		0	0	0	0	11	2	-9.351660	1	0	0	0		1	2	2	4	2.129790	1	0.160000	1.880000	0.206949	0.990000	0.470000	1.000000	1.000000	0.934796	0.990000	1	8.300000e-01	1
IP6K2	51447	broad.mit.edu	37	3	48726088	48726088	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:48726088C>T	ENST00000328631.5	-	6	1122	c.899G>A	c.(898-900)cGc>cAc	p.R300H	NCKIPSD_ENST00000416649.2_5'Flank|NCKIPSD_ENST00000294129.2_5'Flank|NCKIPSD_ENST00000341520.4_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2			15					GAGTTCACGGCGCAGGTACCG	0.567000																								0							SO:0001583	missense			ENST00000328631.5	1	1	hg19	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867840	0.91587	.	.	ENSG00000068745	ENST00000328631	T	0.19105	2.17	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61657	-0.7018	10	0.72032	D	0.01	-3.6578	14.8375	0.70194	0.0:0.9314:0.0:0.0686	.	300	Q9UHH9	IP6K2_HUMAN	H	300	ENSP00000331103:R300H	ENSP00000331103:R300H	R	-	2	0	IP6K2	48701092	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.818000	0.86416	1.451000	0.47736	0.655000	0.94253	CGC		TCGA-HZ-7926-01A-11D-2154-08	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	1	0	1	20	393	0	61	1	9.952526e-01	17	151	0	61	2		0	0	0	0	0	2	1	0.999994	19	384	0	60	2		0	0	0	0	61	2	-19.879780	1	1	0	0		1	0	0	0	1.981432	0	0.160000	1.880000	0.140753	0.590000	0.370000	0.860000	0.580000	0.609012	0.590000	0	4.700000e-01	7.300000e-01
MTTP	4547	broad.mit.edu	37	4	100512445	100512445	+	Silent	SNP	G	G	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:100512445G>C	ENST00000265517.5	+	5	758	c.555G>C	c.(553-555)gtG>gtC	p.V185V	MTTP_ENST00000511045.1_Silent_p.V212V|MTTP_ENST00000457717.1_Silent_p.V185V			P55157	MTP_HUMAN	microsomal triglyceride transfer protein			57				Hesperetin(DB01094)|Lomitapide(DB08827)	AAGACAAAGTGATCAAAATTA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000265517.5	1	1	hg19	CCDS3651.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3	1	0	1	47	391	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1.000000	46	386	0	63	2		0	0	0	0	63	2	-3.318794	1	1	0	0		1	1	2	3	2.025198	0	0.160000	1.880000	0.164678	0.990000	0.990000	1.000000	1.000000	0.998994	0.990000	1	9.900000e-01	1
ATP8A1	10396	broad.mit.edu	37	4	42627669	42627669	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:42627669C>T	ENST00000381668.5	-	3	457	c.226G>A	c.(226-228)Gct>Act	p.A76T	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A76T|ATP8A1_ENST00000510289.1_3'UTR	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1			51				Phosphatidylserine(DB00144)	GAATTAGCAGCTCTTCTGAAC	0.353000																								0							SO:0001583	missense			ENST00000381668.5	1	1	hg19	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644594	0.67358	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.54479	0.57;0.57	5.8	5.8	0.92144	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	L	0.39467	1.215	0.80722	D	1	D;B;B	0.63880	0.993;0.35;0.209	D;B;B	0.68192	0.956;0.299;0.097	T	0.61377	-0.7075	10	0.41790	T	0.15	.	20.418	0.99029	0.0:1.0:0.0:0.0	.	76;76;76	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	T	76	ENSP00000371084:A76T;ENSP00000264449:A76T	ENSP00000264449:A76T	A	-	1	0	ATP8A1	42322426	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.370000	0.79589	2.902000	0.99343	0.650000	0.86243	GCT		TCGA-HZ-7926-01A-11D-2154-08	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	1	0	0	21	270	0	42	0	3.154213e-02	0	4	0	42	2		0	0	0	0	0	2	1	0.999998	21	267	0	42	2		0	0	0	0	42	2	-20.000000	1	1	0	0		1	1	2	3	2.025198	0	0.160000	1.880000	0.164678	0.920000	0.580000	1.000000	1.000000	0.887851	0.920000	1	7.400000e-01	1
HELQ	113510	broad.mit.edu	37	4	84353360	84353360	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:84353360C>T	ENST00000295488.3	-	10	2271	c.2109G>A	c.(2107-2109)caG>caA	p.Q703Q	HELQ_ENST00000510985.1_Silent_p.Q636Q	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like			38					TGCCAATCATCTGTTTATATT	0.358000								Other identified genes with known or suspected DNA repair function																0							SO:0001819	synonymous_variant			ENST00000295488.3	1	1	hg19	CCDS3603.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	1	0	0	18	298	0	66	0	3.360513e-01	1	19	0	66	2		0	0	0	0	0	2	1	0.999982	18	294	0	66	2		0	0	0	0	66	2	-3.317573	1	1	0	0		1	1	2	3	2.025198	0	0.160000	1.880000	0.164678	0.730000	0.440000	1.000000	1.000000	0.748025	0.730000	0	5.700000e-01	9.400000e-01
SLCO4C1	353189	broad.mit.edu	37	5	101576431	101576431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:101576431G>A	ENST00000310954.6	-	11	2153	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1			50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)			CCTAATAATCGAAGGACCATA	0.323000																								0							SO:0001587	stop_gained			ENST00000310954.6	0	1	hg19	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	40	8.187990	0.98696	0.0	1.16E-4	ENSG00000173930	ENST00000310954	.	.	.	5.96	5.96	0.96718	.	0.000000	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9858	0.92769	0.0:0.0:1.0:0.0	.	.	.	.	X	623	.	ENSP00000309741:R623X	R	-	1	2	SLCO4C1	101604330	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	4.086000	0.57664	2.832000	0.97577	0.655000	0.94253	CGA		TCGA-HZ-7926-01A-11D-2154-08	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	0	0	1	84	588	0	118	0	8.910057e-01	0	29	0	118	2		0	0	0	0	0	2	1	1.000000	82	576	0	116	2		0	0	0	0	118	2	-20.000000	1	1	121404	6	43	1	0	1	1	2.007109	0	0.160000	1.880000	0.153908	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SLCO6A1	133482	broad.mit.edu	37	5	101834438	101834438	+	Silent	SNP	T	T	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:101834438T>G	ENST00000506729.1	-	1	282	c.111A>C	c.(109-111)ggA>ggC	p.G37G	SLCO6A1_ENST00000379807.3_Silent_p.G37G|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Silent_p.G37G|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000513675.1_Silent_p.G37G|SLCO6A1_ENST00000389019.3_Silent_p.G37G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1			60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)			ACTTCGGGGTTCCCTTGGCCC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000506729.1	1	1	hg19	CCDS34206.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	1	0	1	125	1012	0	178		0	0	0	0	178	2		0	0	0	0	0	2	1	1.000000	122	1000	0	175	2		0	0	0	0	178	2	-20.000000	1	1	0	0		1	0	1	1	2.007109	0	0.160000	1.880000	0.153908	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
PCDHB3	56132	broad.mit.edu	37	5	140482066	140482066	+	Silent	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:140482066G>A	ENST00000231130.2	+	1	1833	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	p.E611D(1)		72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		AGGCCACGGAGCCCGGGCTGT	0.706000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000231130.2	1	1	hg19	CCDS4245.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	0	0	0	26	566	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	0.999978	14	350	0	149	2		0	0	0	0	106	2	-4.954673	1	0	117574	4	35	1	0	1	1	2.007109	0	0.160000	1.880000	0.153908	0.540000	0.360000	0.760000	0.540000	0.558853	0.540000	0	4.400000e-01	6.600000e-01
CDH10	1008	broad.mit.edu	37	5	24535262	24535262	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:24535262G>A	ENST00000264463.4	-	5	1280	c.773C>T	c.(772-774)aCg>aTg	p.T258M		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)			185					ATCTGTCAGCGTGATGTTCAC	0.483000										HNSCC(23;0.051)														0							SO:0001583	missense			ENST00000264463.4	1	1	hg19	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319154	0.60524	.	.	ENSG00000040731	ENST00000264463	T	0.03004	4.08	5.67	5.67	0.87782	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	L	0.52011	1.625	0.46478	D	0.99906	D	0.89917	1.0	D	0.71184	0.972	T	0.00062	-1.2157	10	0.66056	D	0.02	.	18.738	0.91763	0.0:0.0:1.0:0.0	.	258	Q9Y6N8	CAD10_HUMAN	M	258	ENSP00000264463:T258M	ENSP00000264463:T258M	T	-	2	0	CDH10	24571019	1.000000	0.71417	0.996000	0.52242	0.246000	0.25737	7.884000	0.87274	2.674000	0.91012	0.591000	0.81541	ACG		TCGA-HZ-7926-01A-11D-2154-08	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	1	0	0	17	307	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	0.999965	17	303	0	53	2		0	0	0	0	54	2	-3.317686	1	1	121406	1	36	1	0	1	1	2.007109	0	0.160000	1.880000	0.153908	0.650000	0.390000	0.980000	1.000000	0.671584	0.650000	0	5.100000e-01	8.200000e-01
DDX4	54514	broad.mit.edu	37	5	55059848	55059848	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:55059848C>G	ENST00000505374.1	+	6	382	c.290C>G	c.(289-291)tCa>tGa	p.S97*	DDX4_ENST00000514278.2_Nonsense_Mutation_p.S97*|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S97*|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000511853.1_5'Flank|DDX4_ENST00000354991.5_Nonsense_Mutation_p.S97*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4			24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)			ATAGGTTTTTCAAACAGCAGG	0.318000																								0							SO:0001587	stop_gained			ENST00000505374.1	0	1	hg19	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473344	0.96274	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	.	.	.	4.82	2.93	0.34026	.	1.124900	0.06856	N	0.798125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-22.8246	5.4174	0.16382	0.0:0.7133:0.0:0.2867	.	.	.	.	X	97;97;97;97;71;97;97;97;97	.	ENSP00000334167:S97X	S	+	2	0	DDX4	55095605	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.097000	0.30988	0.534000	0.28695	0.591000	0.81541	TCA		TCGA-HZ-7926-01A-11D-2154-08	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	0	0	0	14	372	0	48		0	0	0	0	48	2	0	0	0	1	0	0	2	1	0.999743	14	367	0	48	2		0	0	0	0	48	2	-3.339229	1	1	0	0		1	0	1	1	2.007109	0	0.160000	1.880000	0.153908	0.450000	0.260000	0.710000	0.440000	0.472941	0.450000	0	3.400000e-01	5.900000e-01
VCAN	1462	broad.mit.edu	37	5	82835841	82835841	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:82835841G>A	ENST00000265077.3	+	8	7584	c.7019G>A	c.(7018-7020)gGa>gAa	p.G2340E	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.G1353E|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican			190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		Hyaluronan(DB08818)	AGTGACACTGGAGCAGAAGGA	0.468000																								0							SO:0001583	missense			ENST00000265077.3	1	1	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	4.418	0.077349	0.08485	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.13089	2.62;2.62	6.07	2.27	0.28462	.	0.514767	0.19096	N	0.122838	T	0.12050	0.0293	L	0.38175	1.15	0.09310	N	1	P;B	0.40515	0.719;0.1	B;B	0.44085	0.44;0.036	T	0.16748	-1.0392	10	0.24483	T	0.36	.	7.4303	0.27124	0.1416:0.2539:0.6045:0.0	.	1353;2340	P13611-2;P13611	.;CSPG2_HUMAN	E	2340;1353	ENSP00000265077:G2340E;ENSP00000340062:G1353E	ENSP00000265077:G2340E	G	+	2	0	VCAN	82871597	0.033000	0.19621	0.000000	0.03702	0.040000	0.13550	0.946000	0.29069	0.445000	0.26639	0.650000	0.86243	GGA		TCGA-HZ-7926-01A-11D-2154-08	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	1	0	0	48	376	0	73	1	1	53	236	0	73	2		0	0	0	0	0	2	1	1.000000	49	371	0	72	2		0	0	0	0	73	2	-20.000000	1	1	0	0		1	0	1	1	2.007109	0	0.160000	1.880000	0.153908	0.990000	0.990000	1.000000	1.000000	0.999521	0.990000	1	9.900000e-01	1
PRDM13	59336	broad.mit.edu	37	6	100061823	100061823	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:100061823C>T	ENST00000369215.4	+	4	1617	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13			17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)			CGCGCTGCCGCCCCTCGACCC	0.731000																								0							SO:0001583	missense			ENST00000369215.4	1	1	hg19	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237088	0.22711	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.05717	3.4;3.4	3.59	0.61	0.17580	.	0.394677	0.18533	N	0.138435	T	0.01730	0.0055	L	0.29908	0.895	0.32681	N	0.515456	B	0.20052	0.041	B	0.21917	0.037	T	0.44298	-0.9337	10	0.22109	T	0.4	-3.4988	13.5999	0.62013	0.0:0.6342:0.3658:0.0	.	438	Q9H4Q3	PRD13_HUMAN	S	438;448	ENSP00000358217:P438S;ENSP00000358216:P448S	ENSP00000358216:P448S	P	+	1	0	PRDM13	100168544	0.056000	0.20664	0.437000	0.26809	0.095000	0.18619	1.172000	0.31908	-0.104000	0.12154	0.561000	0.74099	CCC		TCGA-HZ-7926-01A-11D-2154-08	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2	1	0	0	13	155	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	0.999551	13	152	0	31	2		0	0	0	0	32	2	-18.208850	1	1	0	0		1	0	0	0	1.963456	0	0.160000	1.880000	0.132231	0.920000	0.530000	1.000000	1.000000	0.878961	0.920000	1	7.100000e-01	1
CUL9	23113	broad.mit.edu	37	6	43155033	43155033	+	Silent	SNP	G	G	A	rs148427416		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:43155033G>A	ENST00000252050.4	+	6	1521	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	CUL9_ENST00000354495.3_Intron|CUL9_ENST00000372647.2_Silent_p.P479P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9			92					ACCCTTTGCCGTACCTCCAGC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000252050.4	1	1	hg19	CCDS4890.1																																																																																				TCGA-HZ-7926-01A-11D-2154-08	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	1	0	0	41	687	0	132	0	1.300348e-01	0	11	0	132	2		0	0	0	0	0	2	1	1.000000	41	678	0	131	2		0	0	0	0	132	2	-6.279674	1	1	121412	2	30	1	0	0	0	1.963456	0	0.160000	1.880000	0.132231	0.670000	0.490000	0.890000	0.670000	0.689762	0.670000	0	5.800000e-01	7.900000e-01
ASTN2	23245	broad.mit.edu	37	9	119903693	119903693	+	Silent	SNP	G	G	A	rs115011238	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:119903693G>A	ENST00000313400.4	-	4	1180	c.1080C>T	c.(1078-1080)cgC>cgT	p.R360R	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Silent_p.R360R|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2			102					GCGTGTTAGCGCGGAAACTCT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000313400.4	1	1	hg19																																																																																					TCGA-HZ-7926-01A-11D-2154-08	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	19	260	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	0.999991	19	255	0	69	2		0	0	0	0	69	2	-12.608130	1	1	121408	41	48	1	0	1	1	2.012137	0	0.160000	1.880000	0.155270	0.840000	0.530000	1.000000	1.000000	0.839046	0.840000	0	6.700000e-01	1
SHROOM2	357	broad.mit.edu	37	X	9907312	9907312	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrX:9907312C>T	ENST00000380913.3	+	8	4307	c.4217C>T	c.(4216-4218)gCg>gTg	p.A1406V	SHROOM2_ENST00000418909.2_Missense_Mutation_p.A241V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2			57		Hepatocellular(5;0.000888)			GCCCCCAAGGCGGAGCTGCTG	0.597000																								0							SO:0001583	missense			ENST00000380913.3	0	1	hg19	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166693	0.78339	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.37235	1.21;1.21;1.21	5.44	5.44	0.79542	Apx/shroom, ASD2 (2);	0.058670	0.64402	N	0.000002	T	0.39733	0.1089	L	0.52206	1.635	0.58432	D	0.999999	B;B	0.33755	0.424;0.194	B;B	0.35727	0.209;0.041	T	0.35500	-0.9786	10	0.72032	D	0.01	-12.7128	18.4668	0.90758	0.0:1.0:0.0:0.0	.	241;1406	Q68DU3;Q13796	.;SHRM2_HUMAN	V	1406;241;241;241	ENSP00000370299:A1406V;ENSP00000415229:A241V;ENSP00000406724:A241V	ENSP00000370299:A1406V	A	+	2	0	SHROOM2	9867312	1.000000	0.71417	0.928000	0.36995	0.789000	0.44602	7.339000	0.79282	2.301000	0.77427	0.596000	0.82720	GCG		TCGA-HZ-7926-01A-11D-2154-08	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	1	0	1	9	59	0	14	1	5.540650e-01	5	8	0	14	2		0	0	0	0	0	2	1	0.994946	9	58	0	14	2		0	0	0	0	14	2	-16.075190	1	1	0	0		1	0	1	1			0.160000	1.880000	0.160000	0.740000	0.390000	0.980000	0.780000	0.733505	0.740000	0	5.500000e-01	9.000000e-01
