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
TFAP2C	7022	broad.mit.edu	37	20	55212855	55212856	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:55212855_55212856delCA	ENST00000201031.2	+	7	1382_1383	c.1139_1140delCA	c.(1138-1140)ccafs	p.P380fs	TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)			13			Colorectal(105;0.229)		AGGCTCGCCCCAGTCTTGGAGA	0.550000																								0							SO:0001589	frameshift_variant			ENST00000201031.2	1	1	hg19	CCDS13454.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	1	0	0	116	486	0	81	0	9.850540e-02	0	3	0	81	2	0	0	0	0	0	0		1	1	113	471	0	79	2								-2.687192	1	1	0	0		1	3	4	7	2.450645	1	0.520000	3.450000	0.715808	0.990000	9.900000e-01	1.000000	1.000000	0.999876	0.990000	1	0.990000	1.000000
KIF1A	547	broad.mit.edu	37	2	241700765	241700776	+	In_Frame_Del	DEL	CCAGCTCACACT	CCAGCTCACACT	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:241700765_241700776delCCAGCTCACACT	ENST00000320389.7	-	23	2266_2277	c.2108_2119delAGTGTGAGCTGG	c.(2107-2121)gagtgtgagctggcg>gcg	p.ECEL703del	KIF1A_ENST00000498729.2_In_Frame_Del_p.ECEL712del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A			66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			GCCCAGAGCGCCAGCTCACACTCCCGCTCTGT	0.632000																								0							SO:0001651	inframe_deletion			ENST00000320389.7	0	1	hg19	CCDS46561.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	0	29	184	0	23	0	2.002584e-02	0	2	0	23	2	0	0	0	0	0	0		1	1	37	185	0	22	2								-20.000000	1	1	0	0		1	2	3	5	2.294524	1	0.520000	3.450000	0.694151	0.870000	5.800000e-01	1.000000	1.000000	0.861717	0.870000	1	0.710000	1.000000
CCDC104	0	broad.mit.edu	37	2	55772051	55772052	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			AG	-	AG	AG		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:55772051_55772052delAG	ENST00000349456.4	+	10	1084_1085	c.936_937delAG	c.(934-939)acagagfs	p.E313fs	CCDC104_ENST00000407816.3_Frame_Shift_Del_p.E284fs|CCDC104_ENST00000339012.3_Frame_Shift_Del_p.E338fs			Q96G28	CFA36_HUMAN				14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		AGGAAATGACAGAGAAACCAGA	0.332000																								0							SO:0001589	frameshift_variant			ENST00000349456.4	0	1	hg19	CCDS1854.2																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2	1	0	0	11	168	0	22	1	9.999847e-01	30	324	0	22	2	0	0	0	0	0	0		1	9.984974e-01	11	168	0	22	2								-3.146440	1	0	0	0		1	3	4	7	2.336558	1	0.520000	3.450000	0.702048	0.440000	2.100000e-01	1.000000	0.390000	0.552407	0.440000	0	0.300000	1.000000
WTAP	9589	broad.mit.edu	37	6	160163179	160163180	+	Splice_Site	INS	-	-	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			-	T	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:160163179_160163180insT	ENST00000358372.4	+	4	1902		c.e4+1		SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Splice_Site	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein			18		Breast(66;0.000776)|Ovarian(120;0.0303)			GATCTTAACTGTAAGTTTGAGT	0.282000																								0							SO:0001630	splice_region_variant			ENST00000358372.4	0	1	hg19	CCDS5266.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	1	0	0	34	277	0	71	0	1	0	246	0	71	2	0	0	0	0	0	0		1	1	34	275	0	70	2								-20.000000	1	1	0	0		1	2	2	4	2.056728	0	0.520000	3.450000	0.661017	0.620000	4.300000e-01	1.000000	0.590000	0.667416	0.620000	0	0.510000	0.850000
CUBN	8029	broad.mit.edu	37	10	16877170	16877170	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:16877170G>A	ENST00000377833.4	-	64	10270	c.10205C>T	c.(10204-10206)gCa>gTa	p.A3402V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGCCAAATGCCTTGTGATA	0.438000																								0							SO:0001583	missense			ENST00000377833.4	1	1	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	6.678	0.493742	0.12702	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.19105	2.17	4.84	2.92	0.33932	CUB (5);	0.738516	0.11552	N	0.552718	T	0.24236	0.0587	L	0.47716	1.5	0.24037	N	0.996099	P	0.40360	0.714	B	0.43990	0.438	T	0.10291	-1.0636	10	0.30854	T	0.27	.	11.3802	0.49752	0.0:0.1371:0.7202:0.1427	.	3402	O60494	CUBN_HUMAN	V	3402;243	ENSP00000367064:A3402V	ENSP00000367064:A3402V	A	-	2	0	CUBN	16917176	0.660000	0.27420	0.004000	0.12327	0.008000	0.06430	2.533000	0.45667	0.593000	0.29745	-0.314000	0.08810	GCA		TCGA-HZ-A9TJ-01A-11D-A40W-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	0	1	44	324	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	1	43	322	0	73	2								-3.318805	1	1	121412	2	31	1	2	2	4	2.106617	1	0.520000	3.450000	0.669513	0.680000	5.000000e-01	1.000000	0.670000	0.711963	0.680000	0	0.580000	0.830000
KRTAP5-3	387266	broad.mit.edu	37	11	1629414	1629414	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:1629414C>T	ENST00000399685.1	-	1	279	c.202G>A	c.(202-204)Ggc>Agc	p.G68S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3			8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CCACAAGAGCCACAGACCCCC	0.667000																								0							SO:0001583	missense			ENST00000399685.1	1	1	hg19	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.519678	0.00967	.	.	ENSG00000196224	ENST00000399685	T	0.01548	4.78	3.39	3.39	0.38822	.	.	.	.	.	T	0.03564	0.0102	M	0.66439	2.03	0.20975	N	0.999817	P	0.46142	0.873	P	0.46452	0.517	T	0.17653	-1.0362	9	0.06757	T	0.87	.	12.6532	0.56774	0.0:1.0:0.0:0.0	.	68	Q6L8H2	KRA53_HUMAN	S	68	ENSP00000382592:G68S	ENSP00000382592:G68S	G	-	1	0	KRTAP5-3	1585990	0.942000	0.31987	0.997000	0.53966	0.006000	0.05464	0.591000	0.23969	1.616000	0.50265	0.289000	0.19496	GGC		TCGA-HZ-A9TJ-01A-11D-A40W-08	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1	1	0	0	31	452	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	30	425	0	96	2								-7.318248	1	1	0	0		1	1	2	3	1.531864	1	0.520000	3.450000	0.583839	0.300000	1.900000e-01	1.000000	0.280000	0.458100	0.300000	0	0.240000	1.000000
NELL1	4745	broad.mit.edu	37	11	21556023	21556023	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:21556023C>T	ENST00000357134.5	+	16	1901	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	NELL1_ENST00000298925.5_Silent_p.D611D|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Silent_p.D526D	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)			70					GTTTCCATGACGATGGGACCT	0.527000																								0							SO:0001819	synonymous_variant			ENST00000357134.5	1	1	hg19	CCDS7855.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	1	0	0	63	263	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	63	258	0	63	2								-20.000000	1	0	121410	1	31	1	1	2	3	1.837416	1	0.520000	3.450000	0.619048	0.930000	7.300000e-01	1.000000	1.000000	0.923167	0.930000	1	0.830000	1.000000
OSBPL5	114879	broad.mit.edu	37	11	3129166	3129166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:3129166C>T	ENST00000263650.7	-	8	860	c.701G>A	c.(700-702)tGg>tAg	p.W234*	OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5			25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)			GGCGTCCAGCCAGCAGCGACC	0.697000																								0							SO:0001587	stop_gained			ENST00000263650.7	0	1	hg19	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989428	0.74589	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	.	.	.	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0922	16.7016	0.85350	0.0:1.0:0.0:0.0	.	.	.	.	X	234;166;145;166	.	ENSP00000263650:W234X	W	-	2	0	OSBPL5	3085742	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.116000	0.77119	2.156000	0.67533	0.455000	0.32223	TGG		TCGA-HZ-A9TJ-01A-11D-A40W-08	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2	1	0	1	43	60	0	11	0	9.984169e-01	0	18	0	11	2		0	0	0	0	0	2	1	1	43	58	0	11	2								-20.000000	1	1	0	0		1	1	2	3	1.845570	1	0.520000	3.450000	0.619048	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PRR5L	79899	broad.mit.edu	37	11	36472814	36472814	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36472814T>A	ENST00000378867.3	+	9	996	c.641T>A	c.(640-642)gTg>gAg	p.V214E	PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like			19					GAGGAGCTGGTGAAGCAAGTG	0.527000																								0							SO:0001583	missense			ENST00000378867.3	1	1	hg19	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144704	0.77888	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.35973	1.41;1.28;1.41	5.16	4.02	0.46733	.	0.070757	0.56097	D	0.000027	T	0.51652	0.1687	M	0.72894	2.215	0.53688	D	0.999979	D;D	0.71674	0.99;0.998	P;P	0.58266	0.836;0.759	T	0.54166	-0.8334	10	0.87932	D	0	-8.0315	10.571	0.45200	0.0:0.0773:0.0:0.9227	.	86;214	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	E	214;141;214	ENSP00000435050:V214E;ENSP00000310103:V141E;ENSP00000368144:V214E	ENSP00000310103:V141E	V	+	2	0	PRR5L	36429390	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.302000	0.59092	0.810000	0.34279	0.260000	0.18958	GTG		TCGA-HZ-A9TJ-01A-11D-A40W-08	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	0	0	1	69	298	1	65	0	9.460282e-02	0	3	1	65	2		0	0	0	0	0	2	1	1	67	291	1	63	19								-20.000000	1	1	0	0		1	1	2	3	1.837416	1	0.520000	3.450000	0.619048	0.900000	7.200000e-01	1.000000	1.000000	0.905818	0.900000	1	0.810000	1.000000
RAG1	5896	broad.mit.edu	37	11	36595176	36595176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36595176C>T	ENST00000299440.5	+	2	434	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1			65	all_lung(20;0.226)	all_hematologic(20;0.107)			AGCCAACCTTCGACATCTCTG	0.463000									Familial Hemophagocytic Lymphohistiocytosis				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											0							SO:0001587	stop_gained	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	ENST00000299440.5	0	1	hg19	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280336	0.59758	0.0	1.16E-4	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	6.14	3.2	0.36748	.	0.352416	0.29522	N	0.011917	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	10.0601	0.42270	0.3752:0.5616:0.0:0.0632	.	.	.	.	X	108	.	ENSP00000299440:R108X	R	+	1	2	RAG1	36551752	.	.	0.743000	0.31040	0.340000	0.28889	.	.	0.439000	0.26476	-0.156000	0.13503	CGA		TCGA-HZ-A9TJ-01A-11D-A40W-08	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	1	0	1	147	224	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	142	219	0	67	2								-19.963560	1	1	121412	3	40	1	1	2	3	1.837416	1	0.520000	3.450000	0.619048	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
FOLH1	2346	broad.mit.edu	37	11	49221961	49221961	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49221961G>C	ENST00000256999.2	-	3	517	c.257C>G	c.(256-258)aCa>aGa	p.T86R	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000340334.7_Missense_Mutation_p.T71R|FOLH1_ENST00000533034.1_Missense_Mutation_p.T71R|FOLH1_ENST00000356696.3_Missense_Mutation_p.T86R	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1			60				Capromab(DB00089)	GTTTTGTTCTGTTCCTGCTAA	0.348000																								0							SO:0001583	missense			ENST00000256999.2	0	1	hg19	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161035	0.78226	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724;ENST00000529117	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.78	4.78	0.61160	.	0.000000	0.56097	D	0.000031	T	0.73606	0.3608	M	0.90019	3.08	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.943;0.997;0.997	D;D;P;D;D	0.97110	1.0;1.0;0.791;0.964;0.962	T	0.78499	-0.2180	10	0.52906	T	0.07	.	15.3468	0.74343	0.0:0.0:1.0:0.0	.	71;71;71;86;86	Q04609-9;Q04609-7;A4UU13;Q04609-8;Q04609	.;.;.;.;FOLH1_HUMAN	R	86;86;71;71;86;29	ENSP00000256999:T86R;ENSP00000349129:T86R;ENSP00000344131:T71R;ENSP00000431463:T71R;ENSP00000431577:T29R	ENSP00000256999:T86R	T	-	2	0	FOLH1	49178537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.854000	0.75440	2.496000	0.84212	0.508000	0.49915	ACA		TCGA-HZ-A9TJ-01A-11D-A40W-08	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	1	0	0	8	157	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.879661e-01	7	151	0	26	2								-10.941140	1	1	0	0		1	1	2	3	1.837416	1	0.520000	3.450000	0.619048	0.240000	1.100000e-01	0.430000	0.240000	0.260197	0.240000	0	0.170000	0.340000
OR4C13	283092	broad.mit.edu	37	11	49974001	49974001	+	Silent	SNP	G	G	A	rs148894043	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49974001G>A	ENST00000555099.1	+	1	59	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13			43					ATGTGACAGAGTTTATTCTAT	0.299000																								0							SO:0001819	synonymous_variant			ENST00000555099.1	1	1	hg19	CCDS31495.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	1	0	1	92	358	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	92	353	0	89	2								-3.180657	1	1	0	0		1	1	2	3	1.837416	1	0.520000	3.450000	0.619048	0.980000	8.100000e-01	1.000000	1.000000	0.960823	0.980000	1	0.890000	1.000000
OR4D9	390199	broad.mit.edu	37	11	59282719	59282719	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:59282719G>T	ENST00000329328.3	+	1	334	c.334G>T	c.(334-336)Gtt>Ttt	p.V112F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9			26					GGGAGCAGACGTTTTTTCTCT	0.488000																								0							SO:0001583	missense			ENST00000329328.3	1	0	hg19	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279950	0.23392	.	.	ENSG00000172742	ENST00000329328	T	0.00406	7.55	4.06	0.928	0.19443	GPCR, rhodopsin-like superfamily (1);	0.211163	0.23577	U	0.046697	T	0.00300	0.0009	N	0.12746	0.255	0.09310	N	1	P	0.51351	0.944	P	0.55260	0.772	T	0.55749	-0.8092	10	0.87932	D	0	-7.0011	2.6652	0.05046	0.3837:0.0:0.4112:0.205	.	112	Q8NGE8	OR4D9_HUMAN	F	112	ENSP00000328563:V112F	ENSP00000328563:V112F	V	+	1	0	OR4D9	59039295	0.000000	0.05858	0.019000	0.16419	0.070000	0.16714	-1.393000	0.02521	0.250000	0.21479	0.557000	0.71058	GTT		TCGA-HZ-A9TJ-01A-11D-A40W-08	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	0	0	1	49	269	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	49	264	0	76	2								-3.230748	1	1	0	0		1	1	2	3	1.837416	1	0.520000	3.450000	0.619048	0.740000	5.600000e-01	0.940000	0.750000	0.755365	0.740000	0	0.650000	0.850000
TDG	6996	broad.mit.edu	37	12	104377099	104377099	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:104377099G>T	ENST00000392872.3	+	7	958	c.724G>T	c.(724-726)Gtt>Ttt	p.V242F	TDG_ENST00000544861.1_Missense_Mutation_p.V99F|TDG_ENST00000542036.1_Missense_Mutation_p.V38F|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000266775.9_Missense_Mutation_p.V238F	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase			24					TAGTAAAGAAGTTTTTGGAGT	0.284000								Base excision repair (BER), DNA glycosylases																0							SO:0001583	missense			ENST00000392872.3	1	1	hg19	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539433	0.65085	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100;ENST00000542036	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.92;0.92	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.258187	0.39083	N	0.001468	T	0.55737	0.1939	N	0.25380	0.74	0.40131	D	0.976715	D;P;B	0.71674	0.998;0.934;0.233	P;P;B	0.60789	0.879;0.545;0.151	T	0.59804	-0.7385	10	0.62326	D	0.03	-28.8349	12.5149	0.56026	0.0764:0.0:0.9236:0.0	.	38;242;242	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	F	242;238;99;235;38	ENSP00000376611:V242F;ENSP00000266775:V238F;ENSP00000445899:V99F;ENSP00000439825:V235F;ENSP00000439054:V38F	ENSP00000266775:V238F	V	+	1	0	TDG	102901229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.522000	0.45572	2.518000	0.84900	0.563000	0.77884	GTT		TCGA-HZ-A9TJ-01A-11D-A40W-08	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2	0	0	0	16	456	0	101	0	2.398531e-01	0	26	0	101	2		0	0	0	0	0	2	1	9.999294e-01	15	452	0	100	2								-3.663674	1	1	0	0		1	0	3	3	1.818911	1	0.520000	3.450000	0.619048	0.160000	9.000000e-02	0.260000	0.160000	0.173574	0.160000	0	0.120000	0.210000
GPR133	283383	broad.mit.edu	37	12	131593364	131593364	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:131593364G>A	ENST00000261654.5	+	18	2542	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	GPR133_ENST00000535015.1_Silent_p.V693V|GPR133_ENST00000376682.4_Silent_p.V347V|GPR133_ENST00000543617.1_Silent_p.V180V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133			67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				ACAGCATGGTGATCAAGGTCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000261654.5	1	1	hg19	CCDS9272.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	1	0	1	267	175	0	82	0	9.813348e-01	0	7	0	82	2		0	0	0	0	0	2	1	1	263	171	0	80	2								-20.000000	1	1	0	0		1	0	3	3	1.818911	1	0.520000	3.450000	0.619048	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PDE3A	5139	broad.mit.edu	37	12	20787935	20787935	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:20787935C>A	ENST00000359062.3	+	8	1986	c.1946C>A	c.(1945-1947)cCt>cAt	p.P649H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited			58	Esophageal squamous(101;0.125)	Breast(259;0.134)		Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGAGAGAGCCTCTGAGGAAA	0.443000																								0							SO:0001583	missense			ENST00000359062.3	1	1	hg19	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	4.426	0.078860	0.08533	.	.	ENSG00000172572	ENST00000359062	T	0.61859	0.07	5.64	3.77	0.43336	.	7739.210000	0.00166	N	0.000000	T	0.51227	0.1662	N	0.22421	0.69	0.09310	N	1	P	0.34837	0.472	B	0.33295	0.161	T	0.53114	-0.8484	10	0.52906	T	0.07	.	14.0504	0.64732	0.454:0.546:0.0:0.0	.	649	Q14432	PDE3A_HUMAN	H	649	ENSP00000351957:P649H	ENSP00000351957:P649H	P	+	2	0	PDE3A	20679202	0.242000	0.23868	0.016000	0.15963	0.040000	0.13550	0.863000	0.27913	0.699000	0.31761	-0.175000	0.13238	CCT		TCGA-HZ-A9TJ-01A-11D-A40W-08	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	0	29	280	0	34	0	4.997669e-02	0	4	0	34	2		0	0	0	0	0	2	1	1	29	278	0	33	2								-3.075756	1	1	0	0		1	2	3	5	2.618221	1	0.520000	3.450000	0.730337	0.640000	4.400000e-01	0.880000	0.650000	0.659389	0.640000	0	0.530000	0.770000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-A9TJ-01A-11D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	64	189	0	69	1	9.968643e-01	12	17	0	69	2	1	1	181	568	0	379	2	1	1	64	188	0	66	2								-20.000000	1	1	0	0		1	2	3	5	2.618221	1	0.520000	3.450000	0.730337	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PKP2	5318	broad.mit.edu	37	12	33031332	33031332	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:33031332T>C	ENST00000070846.6	-	3	506	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	PKP2_ENST00000340811.4_Missense_Mutation_p.Y161C	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2			50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				GCTGTGCGTGTAGTGAGCCCT	0.592000																								0							SO:0001583	missense			ENST00000070846.6	1	1	hg19	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522175	0.44866	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.86030	-2.05;-2.06	4.98	4.98	0.66077	.	0.558681	0.16641	N	0.205627	D	0.89403	0.6705	L	0.59436	1.845	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.956;0.972	T	0.81169	-0.1055	10	0.59425	D	0.04	-5.6232	9.1145	0.36748	0.1628:0.0:0.0:0.8372	.	161;161;161	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	C	161	ENSP00000342800:Y161C;ENSP00000070846:Y161C	ENSP00000070846:Y161C	Y	-	2	0	PKP2	32922599	0.061000	0.20836	0.007000	0.13788	0.021000	0.10359	2.011000	0.40922	1.865000	0.54081	0.529000	0.55759	TAC		TCGA-HZ-A9TJ-01A-11D-A40W-08	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	0	0	0	34	798	0	110	0	6.065670e-01	0	49	0	110	2		0	0	0	0	0	2	1	9.401543e-01	34	785	1	114	23								-20.000000	1	1	121410	1	34	1	2	3	5	2.618221	1	0.520000	3.450000	0.730337	0.270000	1.800000e-01	0.390000	0.300000	0.287138	0.270000	0	0.230000	0.340000
TMEM117	84216	broad.mit.edu	37	12	44782272	44782272	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:44782272G>T	ENST00000266534.3	+	8	1489	c.1362G>T	c.(1360-1362)caG>caT	p.Q454H	TMEM117_ENST00000536799.1_Missense_Mutation_p.Q350H|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117			23	Lung SC(27;0.192)				AAAACACCCAGGCTTCAGTAG	0.443000																								0							SO:0001583	missense			ENST00000266534.3	1	1	hg19	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087281	0.36855	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T	0.46819	0.86	5.73	2.5	0.30297	.	0.052666	0.85682	D	0.000000	T	0.38081	0.1027	L	0.41236	1.265	0.39169	D	0.962561	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.002	T	0.33007	-0.9885	10	0.48119	T	0.1	-10.3341	12.0236	0.53358	0.2193:0.0:0.7807:0.0	.	350;454	F5H3Q2;Q9H0C3	.;TM117_HUMAN	H	454;350;202	ENSP00000266534:Q454H	ENSP00000266534:Q454H	Q	+	3	2	TMEM117	43068539	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	1.298000	0.33412	0.774000	0.33427	-0.142000	0.14014	CAG		TCGA-HZ-A9TJ-01A-11D-A40W-08	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	1	0	0	14	386	0	68	0	8.522116e-02	0	13	0	68	2		0	0	0	0	0	2	1	9.997521e-01	14	383	0	66	2								-3.294724	1	1	0	0		1	0	3	3	1.818911	1	0.520000	3.450000	0.619048	0.170000	9.000000e-02	0.270000	0.180000	0.180543	0.170000	0	0.120000	0.230000
FMNL3	91010	broad.mit.edu	37	12	50044493	50044493	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:50044493G>A	ENST00000293590.5	-	17	2199	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C|FMNL3_ENST00000335154.5_Missense_Mutation_p.R656C|FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C			Q8IVF7	FMNL3_HUMAN	formin-like 3			39					TCAGCCGAGCGGCCAGCCTTG	0.582000																								0							SO:0001583	missense			ENST00000293590.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.0	4.085302	0.76642	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.12	5.12	0.69794	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.050640	0.64402	D	0.000001	T	0.24774	0.0601	L	0.27053	0.805	0.53688	D	0.999977	D;D;D	0.76494	0.998;0.996;0.999	D;P;P	0.64042	0.921;0.736;0.848	T	0.00383	-1.1774	10	0.51188	T	0.08	.	11.2905	0.49247	0.0:0.0:0.72:0.28	.	605;656;656	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	C	656;656;605;656	ENSP00000335655:R656C;ENSP00000447479:R656C;ENSP00000344311:R605C;ENSP00000293590:R656C	ENSP00000293590:R656C	R	-	1	0	FMNL3	48330760	0.983000	0.35010	1.000000	0.80357	0.980000	0.70556	1.336000	0.33850	2.834000	0.97654	0.650000	0.86243	CGC		TCGA-HZ-A9TJ-01A-11D-A40W-08	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	50	191	0	39	0	9.627637e-01	0	23	0	39	2		0	0	0	0	0	2	1	1	48	185	0	37	2								-3.759405	1	1	121006	1	39	1	0	3	3	1.818911	1	0.520000	3.450000	0.619048	0.990000	7.700000e-01	1.000000	1.000000	0.956598	0.990000	1	0.880000	1.000000
KCNA1	3736	broad.mit.edu	37	12	5021899	5021899	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:5021899C>A	ENST00000382545.3	+	2	2462	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)			63				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	ATGAGCAAGTCTGAGTACATG	0.483000																								0							SO:0001583	missense			ENST00000382545.3	1	1	hg19	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790696	0.70452	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96716	-4.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	M	0.87269	2.87	0.80722	D	1	D	0.63880	0.993	D	0.63033	0.91	D	0.98623	1.0668	10	0.87932	D	0	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	452	Q09470	KCNA1_HUMAN	Y	452	ENSP00000371985:S452Y	ENSP00000228858:S452Y	S	+	2	0	KCNA1	4892160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	TCT		TCGA-HZ-A9TJ-01A-11D-A40W-08	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	0	0	1	160	1033	0	163		0	0	0	0	163	2		0	0	0	0	0	2	1	1	158	1027	0	161	2								-20.000000	1	1	0	0		1	2	3	5	2.618221	1	0.520000	3.450000	0.730337	0.910000	7.800000e-01	1.000000	1.000000	0.916958	0.910000	1	0.840000	0.990000
TM9SF2	9375	broad.mit.edu	37	13	100153955	100153955	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:100153955G>A	ENST00000376387.4	+	1	285	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	LINC00449_ENST00000366259.2_RNA	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2			17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)				GGCCCGCGCCGGAGCGGCGCT	0.667000																								0							SO:0001583	missense			ENST00000376387.4	0	1	hg19	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177171	0.38413	.	.	ENSG00000125304	ENST00000376387	T	0.41400	1.0	4.66	-3.93	0.04143	.	0.587551	0.19001	N	0.125345	T	0.21550	0.0519	N	0.14661	0.345	0.09310	N	1	B;P	0.35908	0.052;0.527	B;B	0.21360	0.004;0.034	T	0.01460	-1.1349	10	0.23302	T	0.38	1.5671	21.9879	0.99964	0.0:0.8332:0.1668:0.0	.	32;32	E9PHW5;Q99805	.;TM9S2_HUMAN	Q	32	ENSP00000365567:R32Q	ENSP00000365567:R32Q	R	+	2	0	TM9SF2	98951956	0.018000	0.18449	0.552000	0.28243	0.996000	0.88848	-0.549000	0.06041	-0.599000	0.05798	0.655000	0.94253	CGG		TCGA-HZ-A9TJ-01A-11D-A40W-08	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3	0	0	0	6	396	1	56	0	1.306445e-03	0	195	1	56	13		0	0	0	0	0	2	0	1.034487e-03	6	378	1	53	22								-2.923173	1	1	0	0		1	2	2	4	2.218602	1	0.520000	3.450000	0.684211	0.090000	2.000000e-02	0.180000	0.080000	0.101143	0.090000	0	0.050000	0.140000
COL4A2	1284	broad.mit.edu	37	13	111102671	111102671	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:111102671G>A	ENST00000360467.5	+	20	1515	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2			80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		GAGGCCTGCCGGGTGAGATGG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000360467.5	1	1	hg19	CCDS41907.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	1	0	0	99	224	0	41	0	1	0	153	0	41	2		0	0	0	0	0	2	1	1	98	217	0	40	2								-7.973366	1	1	120848	5	37	1	2	2	4	2.218602	1	0.520000	3.450000	0.684211	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MRP63	0	broad.mit.edu	37	13	21751133	21751133	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:21751133C>T	ENST00000309594.4	+	2	156	c.78C>T	c.(76-78)ttC>ttT	p.F26F	SKA3_ENST00000314759.5_5'Flank|SKA3_ENST00000400018.3_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN				5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)			GGCCGCGGTTCGTGTCGTTGC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000309594.4	1	1	hg19	CCDS9296.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2	1	0	0	42	283	0	48	1	1	69	221	0	48	2		0	0	0	0	0	2	1	1	42	267	0	46	2								-20.000000	1	1	0	0		1	2	2	4	2.218602	1	0.520000	3.450000	0.684211	0.750000	5.500000e-01	0.980000	0.760000	0.766580	0.750000	0	0.650000	0.870000
EML1	2009	broad.mit.edu	37	14	100405553	100405553	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:100405553G>A	ENST00000262233.6	+	21	2350	c.2211G>A	c.(2209-2211)tcG>tcA	p.S737S	EML1_ENST00000327921.9_Silent_p.S725S|EML1_ENST00000334192.4_Silent_p.S756S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1			42		Melanoma(154;0.0879)|all_epithelial(191;0.216)			CAGAAGGCTCGGACGGAACCG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000262233.6	1	1	hg19	CCDS32155.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	1	0	1	42	237	0	63	0	1.147296e-01	0	4	0	63	2		0	0	0	0	0	2	1	1	40	230	0	61	2								-2.753200	1	1	121412	3	37	1	1	2	3	1.848437	1	0.520000	3.450000	0.619048	0.720000	5.400000e-01	0.940000	0.720000	0.739545	0.720000	0	0.630000	0.840000
XRCC3	7517	broad.mit.edu	37	14	104169592	104169592	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:104169592C>T	ENST00000553264.1	-	5	1275	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000555832.1_5'Flank			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3			4		Melanoma(154;0.155)|all_epithelial(191;0.19)			AGTGCGCAGCCGCGGCTGCTG	0.622000								Direct reversal of damage;Homologous recombination																0							SO:0001583	missense			ENST00000553264.1	0	1	hg19	CCDS9984.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858680	0.17178	.	.	ENSG00000126215	ENST00000554913;ENST00000352127;ENST00000553264;ENST00000555055;ENST00000445556	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.7	-3.94	0.04130	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	1.857050	0.02717	N	0.113582	T	0.30759	0.0775	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.16289	0.015	T	0.24297	-1.0164	10	0.31617	T	0.26	-22.7782	12.9742	0.58529	0.0:0.165:0.0:0.835	.	160	O43542	XRCC3_HUMAN	Q	160	ENSP00000451362:R160Q;ENSP00000343392:R160Q;ENSP00000451974:R160Q;ENSP00000452598:R160Q;ENSP00000412990:R160Q	ENSP00000343392:R160Q	R	-	2	0	XRCC3	103239345	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.699000	0.01906	-0.879000	0.04002	-0.367000	0.07326	CGG		TCGA-HZ-A9TJ-01A-11D-A40W-08	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1	1	0	1	7	33	0	14	1	5.169388e-01	3	6	0	14	2		0	0	0	0	0	2	1	9.824204e-01	7	32	0	14	2								-15.119890	1	1	117758	1	24	1	1	2	3	1.862466	1	0.520000	3.450000	0.619048	0.870000	4.100000e-01	1.000000	1.000000	0.832140	0.870000	1	0.610000	1.000000
DCAF5	8816	broad.mit.edu	37	14	69522129	69522129	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:69522129C>T	ENST00000341516.5	-	9	1421	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	DCAF5_ENST00000554215.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000557386.1_Missense_Mutation_p.R424Q|DCAF5_ENST00000556847.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000553293.1_5'UTR	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5			29					CTCGATCTCTCGGCGTACCAG	0.587000																								0							SO:0001583	missense			ENST00000341516.5	0	1	hg19	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141952	0.77775	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.75938	-0.98;-0.81;-0.81;-0.3	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	L	0.34521	1.04	0.80722	D	1	P;P	0.49358	0.923;0.875	P;B	0.47891	0.56;0.357	T	0.71906	-0.4451	10	0.38643	T	0.18	-8.3451	19.7989	0.96497	0.0:1.0:0.0:0.0	.	424;425	G3V4J7;Q96JK2	.;DCAF5_HUMAN	Q	425;343;343;424	ENSP00000341351:R425Q;ENSP00000451551:R343Q;ENSP00000452052:R343Q;ENSP00000451845:R424Q	ENSP00000341351:R425Q	R	-	2	0	DCAF5	68591882	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	7.336000	0.79245	2.683000	0.91414	0.561000	0.74099	CGA		TCGA-HZ-A9TJ-01A-11D-A40W-08	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	0	0	0	5	277	0	46	0	1.449018e-01	0	31	0	46	2		0	0	0	0	0	2	1	9.332525e-01	6	268	0	46	2								-3.286065	1	1	0	0		1	1	2	3	1.848437	1	0.520000	3.450000	0.619048	0.090000	2.000000e-02	0.190000	0.090000	0.102132	0.090000	0	0.050000	0.140000
PGF	5228	broad.mit.edu	37	14	75416111	75416111	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:75416111G>A	ENST00000405431.2	-	3	263	c.264C>T	c.(262-264)ggC>ggT	p.G88G	PGF_ENST00000553716.1_Silent_p.G88G|PGF_ENST00000238607.6_Silent_p.G87G|PGF_ENST00000555567.1_Silent_p.G88G			P49763	PLGF_HUMAN	placental growth factor			8				Aflibercept(DB08885)	GATTCTCATCGCCGCAGCAGC	0.632000													GBM(127;389 2301 5452 48547)											0							SO:0001819	synonymous_variant			ENST00000405431.2	1	1	hg19	CCDS9835.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	1	0	0	12	243	0	45	1	6.128936e-01	3	39	0	45	2		0	0	0	0	0	2	1	9.990742e-01	11	239	0	43	2								-3.303761	1	1	121404	2	35	1	1	2	3	1.848437	1	0.520000	3.450000	0.619048	0.230000	1.200000e-01	0.380000	0.240000	0.244542	0.230000	0	0.170000	0.310000
PTPN21	11099	broad.mit.edu	37	14	89016677	89016677	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:89016677G>A	ENST00000556564.1	-	2	369	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	RP11-507K2.3_ENST00000556328.1_RNA|PTPN21_ENST00000328736.3_Silent_p.L29L|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21			45					TTATTAAGCAGTTGGATCCGG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000556564.1	1	1	hg19	CCDS9884.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1	0	0	1	88	324	1	61	0	5.380857e-01	1	7	1	61	2		0	0	0	0	0	2	1	1	86	319	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.848437	1	0.520000	3.450000	0.619048	0.990000	8.400000e-01	1.000000	1.000000	0.978001	0.990000	1	0.930000	1.000000
MYO5A	4644	broad.mit.edu	37	15	52672018	52672018	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:52672018C>T	ENST00000399231.3	-	17	2343		c.e17+1		MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)			57					GCCAGGCTCACCGTGAGGGGA	0.453000																								0							SO:0001630	splice_region_variant			ENST00000399231.3	1	1	hg19	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385741	0.82792	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	.	.	.	4.99	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1161	0.72404	0.0:0.8581:0.1419:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO5A	50459310	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	7.818000	0.86416	2.464000	0.83262	0.650000	0.86243	.		TCGA-HZ-A9TJ-01A-11D-A40W-08	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	1	0	1	75	422	1	58		0	0	0	1	58	2		0	0	0	0	0	2	1	9.999999e-01	75	419	1	56	26								-20.000000	1	1	0	0		1	1	3	4	1.900892	1	0.520000	3.450000	0.634146	0.790000	6.100000e-01	1.000000	0.770000	0.821572	0.790000	0	0.690000	1.000000
ZSCAN10	84891	broad.mit.edu	37	16	3140385	3140385	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:3140385C>T	ENST00000252463.2	-	5	972	c.885G>A	c.(883-885)gcG>gcA	p.A295A	ZSCAN10_ENST00000538082.2_Silent_p.A213A|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10			24					CCCCGCAGTCCGCGCAGATGA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000252463.2	1	1	hg19	CCDS10493.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	1	0	1	90	312	1	69		0	0	0	1	69	2		0	0	0	0	0	2	1	1	87	300	1	67	19								-3.838453	1	1	121256	1	32	1	2	4	6	1.959311	1	0.520000	3.450000	0.645390	0.990000	9.700000e-01	1.000000	1.000000	0.998228	0.990000	1	0.990000	1.000000
NLRC5	84166	broad.mit.edu	37	16	57092011	57092011	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57092011A>G	ENST00000262510.6	+	28	4006	c.3781A>G	c.(3781-3783)Aga>Gga	p.R1261G	NLRC5_ENST00000539144.1_Missense_Mutation_p.R1232G|NLRC5_ENST00000308149.7_Missense_Mutation_p.R1232G|NLRC5_ENST00000436936.1_Missense_Mutation_p.R1261G|RP11-322D14.2_ENST00000562970.1_RNA	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5			75		all_neural(199;0.225)			CAGCGGACTCAGATGCCTTCT	0.572000																								0							SO:0001583	missense			ENST00000262510.6	0	1	hg19	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.659|7.659	0.684568|0.684568	0.14973|0.14973	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805;ENST00000399221|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	.|T;T;T;T;T	.|0.53423	.|0.62;5.54;0.62;5.54;0.62	4.68|4.68	2.39|2.39	0.29439|0.29439	.|.	.|.	.|.	.|.	.|.	T|T	0.44371|0.44371	0.1290|0.1290	M|M	0.68952|0.68952	2.095|2.095	0.09310|0.09310	N|N	1|1	.|P;P;B;B	.|0.36465	.|0.554;0.515;0.302;0.094	.|B;B;B;B	.|0.35550	.|0.205;0.156;0.08;0.054	T|T	0.28004|0.28004	-1.0057|-1.0057	5|9	.|0.49607	.|T	.|0.09	.|.	8.9296|8.9296	0.35661|0.35661	0.6488:0.3512:0.0:0.0|0.6488:0.3512:0.0:0.0	.|.	.|945;1232;1261;1261	.|Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;NLRC5_HUMAN	R|G	1012;12|1261;1232;1261;704;1232;737	.|ENSP00000262510:R1261G;ENSP00000308886:R1232G;ENSP00000389739:R1261G;ENSP00000441727:R1232G;ENSP00000441597:R737G	.|ENSP00000262510:R1261G	Q|R	+|+	2|1	0|2	NLRC5|NLRC5	55649512|55649512	0.968000|0.968000	0.33430|0.33430	0.285000|0.285000	0.24819|0.24819	0.051000|0.051000	0.14879|0.14879	1.064000|1.064000	0.30579|0.30579	0.292000|0.292000	0.22492|0.22492	0.449000|0.449000	0.29647|0.29647	CAG|AGA		TCGA-HZ-A9TJ-01A-11D-A40W-08	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	0	0	0	4	185	0	28	0	1.025561e-01	0	20	0	28	2		0	0	0	0	0	2	1	8.887450e-01	4	183	0	28	2								-5.915690	1	1	0	0		1	2	4	6	2.969935	1	0.520000	3.450000	0.764706	0.180000	4.000000e-02	0.400000	0.180000	0.204825	0.180000	0	0.100000	0.290000
CCDC135	0	broad.mit.edu	37	16	57764951	57764951	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57764951C>T	ENST00000360716.3	+	18	2721	c.2500C>T	c.(2500-2502)Cgc>Tgc	p.R834C	CCDC135_ENST00000336825.8_Missense_Mutation_p.R769C|CCDC135_ENST00000394337.4_Missense_Mutation_p.R834C			Q8IY82	CC135_HUMAN				30					GGCCATGTTCCGCATCCGCAT	0.597000																								0							SO:0001583	missense			ENST00000360716.3	1	1	hg19	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	12.08	1.831476	0.32329	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.55413	0.52;0.52;0.52	5.04	4.09	0.47781	.	0.274751	0.35646	N	0.003074	T	0.73613	0.3609	M	0.85197	2.74	0.58432	D	0.999999	B;D	0.89917	0.056;1.0	B;D	0.91635	0.026;0.999	T	0.77892	-0.2418	10	0.66056	D	0.02	-22.0214	12.618	0.56588	0.0:0.9179:0.0:0.0821	.	769;834	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	834;769;834	ENSP00000377869:R834C;ENSP00000338938:R769C;ENSP00000353942:R834C	ENSP00000338938:R769C	R	+	1	0	CCDC135	56322452	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	2.268000	0.43338	1.275000	0.44379	-0.156000	0.13503	CGC		TCGA-HZ-A9TJ-01A-11D-A40W-08	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2	1	0	1	108	224	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	1	107	221	0	49	2								-10.327270	1	1	121404	7	38	1	2	4	6	2.969935	1	0.520000	3.450000	0.764706	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
CNGB1	1258	broad.mit.edu	37	16	57945695	57945695	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57945695G>A	ENST00000251102.8	-	25	2514	c.2454C>T	c.(2452-2454)ctC>ctT	p.L818L	CNGB1_ENST00000564448.1_Silent_p.L812L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1			54					GAGTGGAGCCGAGGCCCTGAT	0.547000													Colon(156;1293 1853 16336 28962 38659)											0							SO:0001819	synonymous_variant			ENST00000251102.8	1	1	hg19	CCDS42169.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	1	0	1	86	172	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	1	84	168	0	24	2								-9.821425	1	1	120900	1	35	1	2	4	6	2.969935	1	0.520000	3.450000	0.764706	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
OSGIN1	29948	broad.mit.edu	37	16	83994666	83994666	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:83994666G>A	ENST00000343939.2	+	6	1109	c.726G>A	c.(724-726)caG>caA	p.Q242Q	OSGIN1_ENST00000565123.1_Silent_p.Q159Q|OSGIN1_ENST00000393306.1_Silent_p.Q159Q|OSGIN1_ENST00000361711.3_Silent_p.Q159Q			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1			12					ACTGGATGCAGAAGAAGCGAA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000343939.2	1	1	hg19																																																																																					TCGA-HZ-A9TJ-01A-11D-A40W-08	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	1	0	1	58	246	0	52	1	9.991971e-01	19	29	0	52	2		0	0	0	0	0	2	1	1	57	239	0	51	2								-20.000000	1	1	121366	1	26	1	3	4	7	2.477696	1	0.520000	3.450000	0.717979	0.990000	9.900000e-01	1.000000	1.000000	0.998691	0.990000	1	0.990000	1.000000
TMEM132E	124842	broad.mit.edu	37	17	32953262	32953262	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:32953262C>T	ENST00000321639.5	+	2	512	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E			57					GCGGGAGGCGCGGCCCCCGTC	0.731000																								0							SO:0001583	missense			ENST00000321639.5	0	1	hg19	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387866	0.61956	.	.	ENSG00000181291	ENST00000321639	T	0.11495	2.77	4.82	3.81	0.43845	.	0.445588	0.24391	N	0.038924	T	0.09512	0.0234	N	0.19112	0.55	0.21020	N	0.999805	D	0.60160	0.987	P	0.47705	0.555	T	0.11108	-1.0601	10	0.66056	D	0.02	-27.4389	8.5268	0.33309	0.1556:0.5772:0.2672:0.0	.	62	Q6IEE7	T132E_HUMAN	W	62	ENSP00000316532:R62W	ENSP00000316532:R62W	R	+	1	2	TMEM132E	29977375	0.834000	0.29399	0.889000	0.34880	0.942000	0.58702	1.415000	0.34748	0.913000	0.36797	0.478000	0.44815	CGG		TCGA-HZ-A9TJ-01A-11D-A40W-08	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	0	0	0	7	37	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.822264e-01	7	36	0	10	2								-14.857570	1	1	0	0		1	2	2	4	2.230651	1	0.520000	3.450000	0.684211	0.970000	4.500000e-01	1.000000	1.000000	0.875631	0.970000	1	0.680000	1.000000
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	GRCh37	CM062017|CM951224	TP53	M	rs28934578	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		TCGA-HZ-A9TJ-01A-11D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	82	80	0	61	1	1	40	14	0	61	2	1	1	516	452	1	1065	6	1	1	82	78	0	59	2								-19.938370	1	1	121412	1	41	1	0	2	2	1.474757	1	0.520000	3.450000	0.520000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
TEX19	400629	broad.mit.edu	37	17	80320465	80320465	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:80320465T>C	ENST00000333437.4	+	2	749	c.439T>C	c.(439-441)Tgg>Cgg	p.W147R		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19			6					GGGTCTTCCCTGGAGATTTGA	0.597000																								0							SO:0001583	missense			ENST00000333437.4	1	1	hg19	CCDS11809.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901393	0.33535	.	.	ENSG00000182459	ENST00000333437	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	T	0.58524	0.2128	L	0.34521	1.04	0.36261	D	0.85455	D	0.89917	1.0	D	0.87578	0.998	T	0.66376	-0.5939	8	0.87932	D	0	-12.8215	8.7547	0.34639	0.0:0.0:0.0:1.0	.	147	Q8NA77	TEX19_HUMAN	R	147	.	ENSP00000331500:W147R	W	+	1	0	TEX19	77913754	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	1.553000	0.36255	1.836000	0.53414	0.460000	0.39030	TGG		TCGA-HZ-A9TJ-01A-11D-A40W-08	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256331.1	1	0	1	79	340	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	78	332	0	63	2								-20.000000	1	1	0	0		1	0	4	4	2.260794	1	0.520000	3.450000	0.684211	0.990000	8.900000e-01	1.000000	1.000000	0.990828	0.990000	1	0.990000	1.000000
MIB1	57534	broad.mit.edu	37	18	19353645	19353645	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:19353645G>A	ENST00000261537.6	+	4	856	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1			27			STAD - Stomach adenocarcinoma(5;0.212)		TGTCCTCTGGGATAATGGTGC	0.428000																								0							SO:0001583	missense			ENST00000261537.6	1	1	hg19	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795298	0.90453	.	.	ENSG00000101752	ENST00000261537	T	0.39406	1.08	5.36	5.36	0.76844	Mib-herc2 (2);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	M	0.79258	2.445	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.63444	-0.6636	10	0.30078	T	0.28	-20.2918	19.0873	0.93209	0.0:0.0:1.0:0.0	.	198	Q86YT6	MIB1_HUMAN	N	198	ENSP00000261537:D198N	ENSP00000261537:D198N	D	+	1	0	MIB1	17607643	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.864000	0.99589	2.508000	0.84585	0.655000	0.94253	GAT		TCGA-HZ-A9TJ-01A-11D-A40W-08	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	0	0	0	23	544	0	38	0	2.378788e-01	0	22	0	38	2		0	0	0	0	0	2	1	9.999993e-01	23	539	0	38	2								-19.971710	1	1	0	0		1	1	9	10	4.179110	1	0.520000	3.450000	0.842022	0.480000	2.900000e-01	0.740000	0.490000	0.497724	0.480000	0	0.380000	0.600000
HDHD2	84064	broad.mit.edu	37	18	44661018	44661018	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:44661018C>T	ENST00000300605.6	-	3	311	c.159G>A	c.(157-159)aaG>aaA	p.K53K	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2			6					ACAGGTCTTGCTTGCTCTCTT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000300605.6	1	1	hg19	CCDS32829.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	1	0	1	65	212	0	101	1	7.194426e-01	4	6	0	101	2		0	0	0	0	0	2	1	1	65	206	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.095673	1	0.520000	3.450000	0.351351	0.660000	5.200000e-01	0.800000	0.660000	0.668812	0.660000	0	0.590000	0.740000
ATF5	22809	broad.mit.edu	37	19	50436260	50436260	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:50436260G>A	ENST00000423777.2	+	3	1137	c.760G>A	c.(760-762)Gca>Aca	p.A254T	MIR4751_ENST00000578027.1_RNA|ATF5_ENST00000595125.1_Missense_Mutation_p.A254T|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5			7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		Pseudoephedrine(DB00852)	GAAGGAACGGGCAGAGTCCGT	0.667000													GBM(48;768 989 9196 9511 26329)											0							SO:0001583	missense			ENST00000423777.2	1	1	hg19	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734599	0.69189	2.27E-4	0.0	ENSG00000169136	ENST00000423777	T	0.56776	0.44	4.54	4.54	0.55810	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.071375	0.53938	D	0.000044	T	0.66992	0.2846	M	0.69358	2.11	0.48511	D	0.999666	D	0.69078	0.997	D	0.72338	0.977	T	0.68880	-0.5292	10	0.56958	D	0.05	-6.7244	10.1231	0.42632	0.0:0.0:0.8:0.2	.	254	Q9Y2D1	ATF5_HUMAN	T	254	ENSP00000396954:A254T	ENSP00000396954:A254T	A	+	1	0	ATF5	55128072	1.000000	0.71417	0.950000	0.38849	0.353000	0.29299	7.197000	0.77814	2.079000	0.62486	0.448000	0.29417	GCA		TCGA-HZ-A9TJ-01A-11D-A40W-08	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2	1	0	1	12	218	0	22	1	9.551694e-01	12	87	0	22	2		0	0	0	0	0	2	1	9.989952e-01	11	211	0	22	2								-14.630450	1	1	121408	9	35	1	3	5	8	3.069081	1	0.520000	3.450000	0.773926	0.480000	2.400000e-01	1.000000	0.440000	0.562129	0.480000	0	0.340000	1.000000
ZNF28	7576	broad.mit.edu	37	19	53303834	53303834	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:53303834A>T	ENST00000457749.2	-	4	1383	c.1264T>A	c.(1264-1266)Tat>Aat	p.Y422N	ZNF28_ENST00000414252.2_Missense_Mutation_p.Y369N|ZNF28_ENST00000360272.4_Missense_Mutation_p.Y369N|ZNF28_ENST00000438150.2_Missense_Mutation_p.Y369N	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28			34					TATGAATTATATGCAAAAGCC	0.353000																								0							SO:0001583	missense			ENST00000457749.2	0	1	hg19	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	3.848	-0.032494	0.07543	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09	1.75	-3.5	0.04710	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04998	0.0134	N	0.25647	0.755	0.09310	N	1	B	0.23128	0.08	B	0.25140	0.058	T	0.40213	-0.9575	9	0.30854	T	0.27	.	4.1215	0.10108	0.3639:0.3121:0.324:0.0	.	422	P17035	ZNF28_HUMAN	N	369;422;369;369;369	ENSP00000412143:Y369N;ENSP00000397693:Y422N;ENSP00000353410:Y369N;ENSP00000444965:Y369N;ENSP00000375661:Y369N	ENSP00000353410:Y369N	Y	-	1	0	ZNF28	57995646	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-11.752000	0.00003	-1.516000	0.01782	0.165000	0.16767	TAT		TCGA-HZ-A9TJ-01A-11D-A40W-08	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	0	0	0	10	1165	0	158	0	2.406038e-02	1	24	0	158	2		0	0	0	0	0	2	1	9.966350e-01	10	1150	0	157	2								-3.315119	1	1	0	0		1	3	5	8	3.069081	1	0.520000	3.450000	0.773926	0.070000	1.000000e-02	1.000000	0.060000	0.249742	0.070000	0	0.030000	1.000000
NLRP12	91662	broad.mit.edu	37	19	54314230	54314230	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54314230T>C	ENST00000324134.6	-	3	851	c.683A>G	c.(682-684)cAc>cGc	p.H228R	NLRP12_ENST00000535162.1_Missense_Mutation_p.H228R|NLRP12_ENST00000354278.3_Missense_Mutation_p.H228R|NLRP12_ENST00000391772.1_Missense_Mutation_p.H228R|NLRP12_ENST00000345770.5_Missense_Mutation_p.H228R|NLRP12_ENST00000391773.1_Missense_Mutation_p.H228R|NLRP12_ENST00000351894.4_Missense_Mutation_p.H228R|NLRP12_ENST00000391775.3_Missense_Mutation_p.H228R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12			80	Ovarian(34;0.19)				CATCACCTTGTGTGCCAGCAT	0.577000																								0							SO:0001583	missense			ENST00000324134.6	1	1	hg19	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	0.687	-0.795867	0.02862	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	4.47	1.18	0.20946	NACHT nucleoside triphosphatase (1);	0.313100	0.23263	N	0.050104	T	0.42359	0.1199	N	0.01493	-0.835	0.80722	D	1	B;B;B;B	0.26935	0.134;0.064;0.134;0.164	B;B;B;B	0.26517	0.031;0.031;0.031;0.07	T	0.45101	-0.9284	10	0.02654	T	1	.	7.0128	0.24871	0.0:0.2972:0.0:0.7028	.	228;228;228;228	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	R	228	ENSP00000319377:H228R;ENSP00000438030:H228R;ENSP00000340473:H228R;ENSP00000346231:H228R;ENSP00000375655:H228R;ENSP00000375653:H228R;ENSP00000375652:H228R	ENSP00000319377:H228R	H	-	2	0	NLRP12	59006042	0.996000	0.38824	0.973000	0.42090	0.891000	0.51852	0.716000	0.25836	0.224000	0.20940	0.254000	0.18369	CAC		TCGA-HZ-A9TJ-01A-11D-A40W-08	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	0	0	0	14	463	1	58		0	0	0	1	58	2		0	0	0	0	0	2	0	4.776192e-02	14	461	1	56	25								-13.396060	1	0	0	0		1	3	5	8	3.069081	1	0.520000	3.450000	0.773926	0.260000	1.300000e-01	1.000000	0.250000	0.399713	0.260000	0	0.180000	1.000000
ZNF543	125919	broad.mit.edu	37	19	57839619	57839619	+	Silent	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:57839619T>C	ENST00000321545.4	+	4	1134	c.789T>C	c.(787-789)gcT>gcC	p.A263A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543			28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			GTGGGAAGGCTTTTAACCGCA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000321545.4	0	1	hg19	CCDS33130.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	0	0	0	5	468	0	49	0	6.160546e-03	0	9	0	49	2		0	0	0	0	0	2	1	9.353779e-01	5	461	0	47	2								-2.588949	1	1	121412	1	33	1	3	5	8	3.109811	1	0.520000	3.450000	0.777200	0.100000	1.000000e-02	1.000000	0.070000	0.267594	0.100000	0	0.050000	1.000000
FUT6	2528	broad.mit.edu	37	19	5831521	5831521	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:5831521C>T	ENST00000318336.4	-	3	2252	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	FUT6_ENST00000592563.1_Intron|FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D|FUT6_ENST00000286955.5_Missense_Mutation_p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)			6					AGCCGCTATGCCGCGTGTCTG	0.632000																								0							SO:0001583	missense			ENST00000318336.4	0	1	hg19	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544153	0.27563	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	3.23	3.23	0.37069	.	.	.	.	.	T	0.04634	0.0126	N	0.00182	-1.905	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	9	0.06236	T	0.91	.	12.6777	0.56903	0.0:1.0:0.0:0.0	.	353	P51993	FUT6_HUMAN	D	353	ENSP00000431708:G353D;ENSP00000432954:G353D;ENSP00000313398:G353D;ENSP00000286955:G353D	ENSP00000286955:G353D	G	-	2	0	FUT6	5782521	0.004000	0.15560	0.326000	0.25389	0.012000	0.07955	0.883000	0.28200	1.743000	0.51761	0.436000	0.28706	GGC		TCGA-HZ-A9TJ-01A-11D-A40W-08	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	0	0	0	6	411	0	92	0	1.048388e-01	0	32	0	92	2		0	0	0	0	0	2	1	9.573416e-01	6	384	0	84	2								-1.912481	0	1	0	0		1	0	4	4	1.734322	1	0.520000	3.450000	0.593909	0.070000	2.000000e-02	1.000000	0.060000	0.278948	0.070000	0	0.040000	1.000000
COL11A1	1301	broad.mit.edu	37	1	103400665	103400665	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:103400665G>C	ENST00000370096.3	-	45	3755	c.3443C>G	c.(3442-3444)cCt>cGt	p.P1148R	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1160R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1			258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)			GGGACCGGGAGGGCCCTGCAG	0.448000																								0							SO:0001583	missense			ENST00000370096.3	1	1	hg19	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171191	0.57584	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	L	0.41492	1.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.989;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.996;0.967;0.999;0.997;0.997	D	0.99935	1.1349	10	0.87932	D	0	.	19.4476	0.94854	0.0:0.0:1.0:0.0	.	1032;1109;1160;1148;368	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1148;1160;1109;368;1032	ENSP00000359114:P1148R;ENSP00000351163:P1160R;ENSP00000302551:P1109R;ENSP00000426533:P1032R	ENSP00000302551:P1109R	P	-	2	0	COL11A1	103173253	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.813000	0.99286	2.588000	0.87417	0.655000	0.94253	CCT		TCGA-HZ-A9TJ-01A-11D-A40W-08	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	1	0	1	15	113	0	25	0	3.060848e-01	0	9	0	25	2		0	0	0	0	0	2	1	9.998797e-01	14	110	0	23	2								-19.999440	1	1	0	0		1	2	2	4	2.124937	1	0.520000	3.450000	0.673025	0.690000	4.000000e-01	1.000000	1.000000	0.714249	0.690000	0	0.530000	0.920000
VPS13D	55187	broad.mit.edu	37	1	12364627	12364627	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:12364627C>T	ENST00000358136.3	+	26	6411	c.6281C>T	c.(6280-6282)aCg>aTg	p.T2094M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)			130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			ACGACAAGCACGGAGGAGCCC	0.522000																								0							SO:0001583	missense			ENST00000358136.3	1	1	hg19	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.278|3.278	-0.147578|-0.147578	0.06627|0.06627	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53206	.|0.63;0.64	5.94|5.94	1.31|1.31	0.21738|0.21738	.|.	.|1.074530	.|0.07029	.|N	.|0.828020	T|T	0.27798|0.27798	0.0684|0.0684	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13145	.|0.007;0.002	.|B;B	.|0.09377	.|0.004;0.002	T|T	0.21655|0.21655	-1.0239|-1.0239	5|10	.|0.33940	.|T	.|0.23	.|.	8.7283|8.7283	0.34483|0.34483	0.0:0.6002:0.0:0.3998|0.0:0.6002:0.0:0.3998	.|.	.|2094;2094	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	W|M	917|2094	.|ENSP00000348666:T2094M;ENSP00000350854:T2094M	.|ENSP00000348666:T2094M	R|T	+|+	1|2	2|0	VPS13D|VPS13D	12287214|12287214	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	0.256000|0.256000	0.18351|0.18351	0.362000|0.362000	0.24319|0.24319	-0.224000|-0.224000	0.12420|0.12420	CGG|ACG		TCGA-HZ-A9TJ-01A-11D-A40W-08	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1	26	160	0	25	0	1.551381e-01	0	5	0	25	2		0	0	0	0	0	2	1	9.999999e-01	26	156	0	24	2								-20.000000	1	1	0	0		1	2	2	4	2.143394	1	0.520000	3.450000	0.675325	0.810000	5.400000e-01	1.000000	1.000000	0.818492	0.810000	0	0.670000	1.000000
CENPF	1063	broad.mit.edu	37	1	214815002	214815002	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:214815002G>A	ENST00000366955.3	+	12	3489	c.3321G>A	c.(3319-3321)caG>caA	p.Q1107Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa			126					AGACAGTGCAGCAAGCTCTGA	0.373000													Colon(80;575 1284 11000 14801 43496)											0							SO:0001819	synonymous_variant			ENST00000366955.3	0	1	hg19	CCDS31023.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	0	0	0	5	367	0	39	0	7.702465e-03	0	8	0	39	2		0	0	0	0	0	2	1	9.357022e-01	5	362	0	39	2								-3.325794	1	1	0	0		1	2	3	5	2.588351	1	0.520000	3.450000	0.730337	0.090000	1.000000e-02	0.210000	0.100000	0.108930	0.090000	0	0.050000	0.160000
TP53BP2	7159	broad.mit.edu	37	1	223986037	223986037	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:223986037C>T	ENST00000343537.7	-	12	2119	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.V481M|TP53BP2_ENST00000391879.2_Intron	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2			29					CTTGCTGCCACGGTCTGGGGT	0.527000																								0							SO:0001583	missense			ENST00000343537.7	1	1	hg19	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229638	0.79688	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.56941	0.43;0.62	5.88	5.88	0.94601	.	0.055023	0.64402	D	0.000001	T	0.67477	0.2897	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.85130	0.997;0.49	T	0.61352	-0.7080	10	0.33940	T	0.23	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	610;604	B4DG66;Q13625	.;ASPP2_HUMAN	M	481;610	ENSP00000375750:V481M;ENSP00000341957:V610M	ENSP00000341957:V610M	V	-	1	0	TP53BP2	222052660	0.997000	0.39634	0.966000	0.40874	0.972000	0.66771	3.655000	0.54460	2.782000	0.95742	0.655000	0.94253	GTG		TCGA-HZ-A9TJ-01A-11D-A40W-08	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	1	0	0	30	761	0	110	1	8.394246e-01	5	81	0	110	2	1	1	79	1853	0	993	2	1	1	30	748	0	107	2								-3.849560	1	1	0	0		1	2	3	5	2.588351	1	0.520000	3.450000	0.730337	0.250000	1.600000e-01	0.370000	0.250000	0.267459	0.250000	0	0.210000	0.320000
OR2M4	26245	broad.mit.edu	37	1	248403055	248403055	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:248403055G>A	ENST00000306687.1	+	1	825	c.825G>A	c.(823-825)tcG>tcA	p.S275S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4			50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)		AGATGGTGTCGGCCTTCTACA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000306687.1	1	1	hg19	CCDS31108.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	1	0	1	54	298	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	53	294	0	46	2								-2.565258	1	1	0	0		1	3	4	7	2.496828	1	0.520000	3.450000	0.720117	0.990000	7.900000e-01	1.000000	1.000000	0.969736	0.990000	1	0.910000	1.000000
FCN3	8547	broad.mit.edu	37	1	27697110	27697110	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:27697110C>T	ENST00000270879.4	-	7	640	c.635G>A	c.(634-636)gGc>gAc	p.G212D	FCN3_ENST00000354982.2_Missense_Mutation_p.G201D	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3			7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			TGAGAACTTGCCCAGTGCCAG	0.582000																								0							SO:0001583	missense			ENST00000270879.4	0	1	hg19	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159905	0.78226	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.76186	-1.0;-1.0	4.84	2.93	0.34026	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.324971	0.25288	N	0.031759	T	0.81432	0.4821	L	0.56769	1.78	0.25196	N	0.990097	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.70916	-0.4742	10	0.59425	D	0.04	.	10.1394	0.42725	0.0:0.8212:0.0:0.1788	.	201;212	Q6UXM4;O75636	.;FCN3_HUMAN	D	212;201;90	ENSP00000270879:G212D;ENSP00000347077:G201D	ENSP00000270879:G212D	G	-	2	0	FCN3	27569697	0.046000	0.20272	0.975000	0.42487	0.386000	0.30323	0.596000	0.24044	1.198000	0.43158	0.558000	0.71614	GGC		TCGA-HZ-A9TJ-01A-11D-A40W-08	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1	0	0	0	6	440	0	71	0	1.619075e-03	0	4	0	71	2		0	0	0	0	0	2	1	9.624207e-01	6	430	0	70	2								-2.070124	0	1	0	0		1	2	2	4	2.124937	1	0.520000	3.450000	0.673025	0.080000	1.000000e-02	1.000000	0.080000	0.161743	0.080000	0	0.040000	0.140000
GPR3	2827	broad.mit.edu	37	1	27720926	27720926	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:27720926C>T	ENST00000374024.3	+	2	723	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3			8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)			TGTTTGGCATCATGCTGCAGC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000374024.3	1	1	hg19	CCDS303.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	0	0	0	14	429	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	9.997344e-01	14	423	0	95	2								-3.222301	1	1	0	0		1	2	2	4	2.124937	1	0.520000	3.450000	0.673025	0.180000	9.000000e-02	1.000000	0.190000	0.255630	0.180000	0	0.130000	0.260000
LRRC7	57554	broad.mit.edu	37	1	70257750	70257750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70257750C>T	ENST00000035383.5	+	2	244	c.214C>T	c.(214-216)Cga>Tga	p.R72*	LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*|LRRC7_ENST00000310961.5_Nonsense_Mutation_p.R77*|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	p.R72G(1)		162					TCAAGCTCTACGAAAACTAAG	0.294000																								1	Substitution - Missense(1)						SO:0001587	stop_gained			ENST00000035383.5	0	1	hg19	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	37	6.592986	0.97688	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.68	2.7	0.31948	.	0.148908	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3006	0.60324	0.4547:0.5453:0.0:0.0	.	.	.	.	X	77;110;72;72	.	ENSP00000035383:R72X	R	+	1	2	LRRC7	70030338	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	2.305000	0.43664	0.277000	0.22141	0.561000	0.74099	CGA		TCGA-HZ-A9TJ-01A-11D-A40W-08	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	1	0	1	134	352	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	134	350	1	81	20								-20.000000	1	1	0	0		1	2	2	4	2.124937	1	0.520000	3.450000	0.673025	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
LRRC7	57554	broad.mit.edu	37	1	70541973	70541973	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70541973C>A	ENST00000035383.5	+	22	4360	c.4330C>A	c.(4330-4332)Cca>Aca	p.P1444T	LRRC7_ENST00000310961.5_Missense_Mutation_p.P1402T|LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7			162					GGATGGATATCCAGAGCAGGT	0.463000																								0							SO:0001583	missense			ENST00000035383.5	1	1	hg19	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575374	0.65878	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.36520	1.25;1.31;2.41	6.16	6.16	0.99307	PDZ/DHR/GLGF (1);	0.129386	0.53938	D	0.000049	T	0.20414	0.0491	N	0.08118	0	0.54753	D	0.999982	P;P;P	0.44429	0.787;0.835;0.608	B;P;B	0.47645	0.372;0.553;0.18	T	0.04930	-1.0917	10	0.37606	T	0.19	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	728;1397;1444	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	1402;1444;728;1220	ENSP00000309245:P1402T;ENSP00000035383:P1444T;ENSP00000394867:P728T	ENSP00000035383:P1444T	P	+	1	0	LRRC7	70314561	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.176000	0.71955	2.937000	0.99478	0.650000	0.86243	CCA		TCGA-HZ-A9TJ-01A-11D-A40W-08	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	1	0	1	32	198	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	1	32	195	0	25	2								-20.000000	1	1	0	0		1	2	2	4	2.124937	1	0.520000	3.450000	0.673025	0.800000	5.600000e-01	1.000000	1.000000	0.813251	0.800000	0	0.670000	0.980000
NKX2-4	644524	broad.mit.edu	37	20	21376877	21376877	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:21376877C>T	ENST00000351817.4	-	2	1365	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	RP11-227D2.3_ENST00000419666.2_RNA|RP11-227D2.3_ENST00000552439.1_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4			3					CTTGGCCTGCCGTTTCATCTT	0.711000																								0							SO:0001583	missense			ENST00000351817.4	1	1	hg19	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394647	0.83011	.	.	ENSG00000125816	ENST00000351817	D	0.96396	-4.0	3.49	3.49	0.39957	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.56097	U	0.000036	D	0.97885	0.9305	M	0.84156	2.68	0.58432	D	0.999993	D	0.69078	0.997	D	0.72982	0.979	D	0.98753	1.0721	10	0.87932	D	0	.	14.7591	0.69593	0.0:1.0:0.0:0.0	.	246	Q9H2Z4	NKX24_HUMAN	Q	246	ENSP00000345147:R246Q	ENSP00000345147:R246Q	R	-	2	0	NKX2-4	21324877	1.000000	0.71417	0.998000	0.56505	0.688000	0.40055	7.095000	0.76952	1.781000	0.52344	0.484000	0.47621	CGG		TCGA-HZ-A9TJ-01A-11D-A40W-08	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2	1	0	0	11	46	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.984898e-01	11	43	0	19	2								-19.943030	1	1	121008	1	27	1	2	2	4	1.603688	1	0.520000	3.450000	0.565217	0.880000	4.700000e-01	1.000000	1.000000	0.844835	0.880000	1	0.650000	1.000000
SLC12A5	57468	broad.mit.edu	37	20	44685548	44685548	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:44685548C>T	ENST00000454036.2	+	24	3241	c.3192C>T	c.(3190-3192)aaC>aaT	p.N1064N	SLC12A5_ENST00000243964.3_Silent_p.N1041N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5			80		Myeloproliferative disorder(115;0.0122)		Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTGGGAGAACTTGTAAGTGC	0.493000																								0							SO:0001819	synonymous_variant			ENST00000454036.2	1	1	hg19	CCDS46610.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	1	0	1	54	353	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	53	348	0	68	2								-20.000000	1	1	0	0		1	3	4	7	2.450645	1	0.520000	3.450000	0.715808	0.910000	6.700000e-01	1.000000	1.000000	0.897559	0.910000	1	0.770000	1.000000
SLC2A10	81031	broad.mit.edu	37	20	45354423	45354423	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:45354423G>A	ENST00000359271.2	+	2	998	c.748G>A	c.(748-750)Gtg>Atg	p.V250M		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10			34		Myeloproliferative disorder(115;0.0122)			GCAGCCCAACGTGCTGTGCTA	0.622000																								0							SO:0001583	missense			ENST00000359271.2	1	1	hg19	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586473	0.66105	.	.	ENSG00000197496	ENST00000359271	T	0.76448	-1.02	5.86	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057050	0.64402	D	0.000002	D	0.86146	0.5863	M	0.76170	2.325	0.49798	D	0.999825	D	0.89917	1.0	D	0.76071	0.987	D	0.87084	0.2168	10	0.87932	D	0	-18.7043	10.4704	0.44633	0.0688:0.0:0.7961:0.1351	.	250	O95528	GTR10_HUMAN	M	250	ENSP00000352216:V250M	ENSP00000352216:V250M	V	+	1	0	SLC2A10	44787830	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	4.571000	0.60879	1.432000	0.47375	0.655000	0.94253	GTG		TCGA-HZ-A9TJ-01A-11D-A40W-08	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2	1	0	1	83	603	0	102	0	5.219725e-01	0	14	0	102	2		0	0	0	0	0	2	1	1	83	593	0	100	2								-20.000000	1	1	121412	3	40	1	3	4	7	2.450645	1	0.520000	3.450000	0.715808	0.810000	6.300000e-01	1.000000	0.790000	0.842551	0.810000	0	0.720000	1.000000
TIAM1	7074	broad.mit.edu	37	21	32493062	32493062	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32493062G>A	ENST00000286827.3	-	29	4871	c.4400C>T	c.(4399-4401)cCg>cTg	p.P1467L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1			115					CTCTTTCTCCGGGCTGCTTGC	0.577000																								0							SO:0001583	missense			ENST00000286827.3	1	1	hg19	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789061	0.90367	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.42131	0.98;1.01	5.14	5.14	0.70334	.	0.126543	0.53938	D	0.000041	T	0.49525	0.1562	L	0.50333	1.59	0.80722	D	1	D;D	0.58970	0.981;0.984	P;B	0.49637	0.617;0.413	T	0.51012	-0.8759	10	0.51188	T	0.08	.	18.6336	0.91369	0.0:0.0:1.0:0.0	.	1407;1467	F5GZ53;Q13009	.;TIAM1_HUMAN	L	1467;1407	ENSP00000286827:P1467L;ENSP00000441570:P1407L	ENSP00000286827:P1467L	P	-	2	0	TIAM1	31414933	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.421000	0.80204	2.377000	0.81083	0.655000	0.94253	CCG		TCGA-HZ-A9TJ-01A-11D-A40W-08	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	1	0	1	38	227	0	42	0	2.730592e-01	0	7	0	42	2		0	0	0	0	0	2	1	1	37	219	0	41	2								-2.545005	1	1	121412	11	43	1	1	2	3	1.721172	1	0.520000	3.450000	0.598326	0.680000	4.800000e-01	1.000000	0.660000	0.728872	0.680000	0	0.570000	1.000000
TIAM1	7074	broad.mit.edu	37	21	32589921	32589921	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32589921C>A	ENST00000286827.3	-	10	2561	c.2090G>T	c.(2089-2091)tGg>tTg	p.W697L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1			115					ATCCAGACCCCACAGAGAAGA	0.532000																								0							SO:0001583	missense			ENST00000286827.3	1	1	hg19	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906475	0.72868	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.32988	1.43;1.43	5.41	5.41	0.78517	.	0.124926	0.64402	D	0.000016	T	0.33556	0.0867	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.32573	0.101;0.061;0.376;0.104	B;B;B;B	0.30401	0.098;0.045;0.115;0.11	T	0.08953	-1.0697	10	0.46703	T	0.11	.	19.3868	0.94560	0.0:1.0:0.0:0.0	.	697;697;538;697	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	L	697;538;697	ENSP00000286827:W697L;ENSP00000441570:W697L	ENSP00000286827:W697L	W	-	2	0	TIAM1	31511792	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.569000	0.82380	2.803000	0.96430	0.655000	0.94253	TGG		TCGA-HZ-A9TJ-01A-11D-A40W-08	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	0	0	1	57	374	0	112	0	1.820968e-02	0	2	0	112	2		0	0	0	0	0	2	1	1	57	364	0	107	2								-2.619883	1	1	0	0		1	1	2	3	1.721172	1	0.520000	3.450000	0.598326	0.620000	4.700000e-01	1.000000	0.610000	0.683808	0.620000	0	0.540000	1.000000
COL18A1	80781	broad.mit.edu	37	21	46932271	46932271	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:46932271G>A	ENST00000359759.4	+	41	5245	c.5224G>A	c.(5224-5226)Gtg>Atg	p.V1742M	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.V1507M|COL18A1_ENST00000400337.2_Missense_Mutation_p.V1327M			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1			25					CGCCTACATCGTGCTCTGCAT	0.692000																								0							SO:0001583	missense			ENST00000359759.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.15	3.041922	0.55003	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.41	3.52	0.40303	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.000000	0.85682	U	0.000000	T	0.77418	0.4127	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.99;0.996;0.994	T	0.80417	-0.1391	10	0.87932	D	0	.	10.9067	0.47084	0.0934:0.0:0.9066:0.0	.	1742;1324;1507;1327	P39060;D3DSM4;P39060-1;P39060-2	COIA1_HUMAN;.;.;.	M	1327;1327;1507;1742;1742;675	ENSP00000383191:V1327M;ENSP00000347665:V1507M;ENSP00000352798:V1742M;ENSP00000339118:V675M	ENSP00000339118:V675M	V	+	1	0	COL18A1	45756699	1.000000	0.71417	0.357000	0.25798	0.012000	0.07955	5.167000	0.64972	1.005000	0.39183	0.549000	0.68633	GTG		TCGA-HZ-A9TJ-01A-11D-A40W-08	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1	1	0	0	7	107	0	21	1	9.999822e-01	14	437	0	21	2		0	0	0	0	0	2	1	9.811088e-01	7	106	0	20	2								-10.821990	1	1	120986	3	31	1	2	2	4	2.120256	1	0.520000	3.450000	0.671862	0.380000	1.600000e-01	1.000000	0.340000	0.440891	0.380000	0	0.250000	0.590000
CELSR1	9620	broad.mit.edu	37	22	46931761	46931761	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:46931761G>C	ENST00000262738.3	-	1	1306	c.1307C>G	c.(1306-1308)cCg>cGg	p.P436R	CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1			95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)			GAGCGGGCCCGGATTGCGCCC	0.667000																								0							SO:0001583	missense			ENST00000262738.3	1	1	hg19	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585708	0.46110	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.51574	0.7;0.7	4.65	3.62	0.41486	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	U	0.000004	T	0.68072	0.2961	M	0.78637	2.42	0.39149	D	0.96218	D	0.89917	1.0	D	0.97110	1.0	T	0.74137	-0.3762	10	0.66056	D	0.02	.	13.7659	0.62995	0.0:0.0:0.8449:0.1551	.	436	Q9NYQ6	CELR1_HUMAN	R	436	ENSP00000262738:P436R;ENSP00000379293:P436R	ENSP00000262738:P436R	P	-	2	0	CELSR1	45310425	1.000000	0.71417	0.997000	0.53966	0.534000	0.34807	9.205000	0.95048	0.943000	0.37553	0.462000	0.41574	CCG		TCGA-HZ-A9TJ-01A-11D-A40W-08	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	1	0	1	22	99	0	30	1	7.062757e-01	6	7	0	30	2		0	0	0	0	0	2	1	9.999991e-01	21	96	0	27	2								-20.000000	1	1	0	0		1	2	2	4	1.612139	1	0.520000	3.450000	0.569275	0.820000	5.200000e-01	1.000000	1.000000	0.823533	0.820000	0	0.650000	1.000000
GLI2	2736	broad.mit.edu	37	2	121742187	121742187	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:121742187G>A	ENST00000452319.1	+	12	1884	c.1824G>A	c.(1822-1824)ccG>ccA	p.P608P	GLI2_ENST00000361492.4_Silent_p.P608P|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.P280P					GLI family zinc finger 2			64	Renal(3;0.0496)	Prostate(154;0.0623)			TCCGCACACCGCTGCTCAAAG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000452319.1	1	1	hg19	CCDS33283.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	1	0	1	41	302	0	52	0	1.504223e-02	0	2	0	52	2	0	0	0	1	0	0	2	1	1	40	301	0	50	2								-16.738570	1	1	121410	3	35	1	3	4	7	2.341448	1	0.520000	3.450000	0.702048	0.780000	5.500000e-01	1.000000	0.740000	0.812330	0.780000	0	0.650000	1.000000
NCKAP5	344148	broad.mit.edu	37	2	133540781	133540781	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:133540781G>A	ENST00000409261.1	-	14	3976	c.3603C>T	c.(3601-3603)atC>atT	p.I1201I	NCKAP5_ENST00000317721.6_Silent_p.I1201I|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5			118					CACCCGCTGTGATCTCCATGC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000409261.1	1	1	hg19	CCDS46418.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	1	0	1	44	227	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	44	221	0	49	2								-20.000000	1	1	0	0		1	3	4	7	2.341448	1	0.520000	3.450000	0.702048	0.990000	7.600000e-01	1.000000	1.000000	0.964995	0.990000	1	0.900000	1.000000
THSD7B	80731	broad.mit.edu	37	2	138400061	138400061	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:138400061G>A	ENST00000409968.1	+	21	3981	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B			134					ATTTTAGGTCGAATGAGCCGG	0.478000																								0							SO:0001583	missense			ENST00000409968.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.34	1.609124	0.28623	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.51325	0.71;0.71;0.71	5.29	-0.929	0.10444	.	1.100800	0.06637	N	0.760367	T	0.21103	0.0508	N	0.03281	-0.365	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46582	-0.9181	10	0.02654	T	1	.	10.7598	0.46258	0.6294:0.0:0.3706:0.0	.	1240	C9JKN6	.	Q	1268;1271;1240	ENSP00000387145:R1268Q;ENSP00000272643:R1271Q;ENSP00000413841:R1240Q	ENSP00000272643:R1271Q	R	+	2	0	THSD7B	138116531	0.970000	0.33590	0.992000	0.48379	0.992000	0.81027	-0.041000	0.12084	-0.106000	0.12110	-0.258000	0.10820	CGA		TCGA-HZ-A9TJ-01A-11D-A40W-08	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	0	0	1	161	353	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	1	158	349	0	56	2								-12.574930	1	1	120828	1	36	1	3	4	7	2.341448	1	0.520000	3.450000	0.702048	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
TTN	7273	broad.mit.edu	37	2	179397543	179397543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:179397543C>T	ENST00000591111.1	-	308	99100	c.98876G>A	c.(98875-98877)tGg>tAg	p.W32959*	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W34600*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GAACTGTTCCCATCTTGAAAG	0.428000																								0							SO:0001587	stop_gained			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	73	115.725762	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6737	0.95921	0.0:1.0:0.0:0.0	.	.	.	.	X	32032;25535;25727;25660;25532	.	ENSP00000340554:W25727X	W	-	2	0	TTN	179105789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.757000	0.94681	0.462000	0.41574	TGG		TCGA-HZ-A9TJ-01A-11D-A40W-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	80	163	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	79	159	0	52	2								-8.959370	1	1	0	0		1	3	4	7	2.341448	1	0.520000	3.450000	0.702048	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PID1	55022	broad.mit.edu	37	2	229890591	229890591	+	Silent	SNP	G	G	A	rs139231184	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:229890591G>A	ENST00000354069.6	-	3	540	c.510C>T	c.(508-510)acC>acT	p.T170T	PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Silent_p.T168T|PID1_ENST00000409462.1_Silent_p.T88T|PID1_ENST00000392055.3_Silent_p.T137T			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1			26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)			TGTGGTCGGCGGTGCAGTAGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000354069.6	0	1	hg19																																																																																					TCGA-HZ-A9TJ-01A-11D-A40W-08	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	0	0	0	5	435	1	51	0	8.772374e-03	0	10	1	51	2		0	0	0	0	0	2	0	3.166707e-07	5	429	2	49	35								-2.267164	0	1	121412	19	46	1	3	4	7	2.238105	1	0.520000	3.450000	0.689521	0.080000	1.000000e-02	1.000000	0.080000	0.296901	0.080000	0	0.040000	1.000000
PER2	8864	broad.mit.edu	37	2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000254658.3_Missense_Mutation_p.A86T|PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	p.A86T(1)		37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)			TCAGATTTTGCCATCATCAGG	0.383000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000254657.3	0	1	hg19	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	0.421	-0.908299	0.02434	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832	T;T;T;T;T	0.53423	2.72;0.68;1.71;0.68;0.62	4.96	2.12	0.27331	.	0.345872	0.34110	N	0.004259	T	0.34308	0.0893	L	0.34521	1.04	0.20074	N	0.999938	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.12837	0.008;0.001;0.005;0.001	T	0.18053	-1.0349	10	0.31617	T	0.26	-1.2378	11.0032	0.47618	0.0:0.7639:0.0:0.2361	.	86;86;86;86	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	T	86	ENSP00000254657:A86T;ENSP00000254658:A86T;ENSP00000397516:A86T;ENSP00000348013:A86T;ENSP00000405891:A86T	ENSP00000254657:A86T	A	-	1	0	PER2	238850548	0.693000	0.27728	0.002000	0.10522	0.041000	0.13682	0.717000	0.25851	-0.004000	0.14419	-0.797000	0.03246	GCA		TCGA-HZ-A9TJ-01A-11D-A40W-08	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	0	0	0	9	1570	1	293	0	3.797202e-02	0	47	1	293	2		0	0	0	0	0	2	0	4.091860e-02	9	1558	1	291	19								-1.723641	0	1	0	0		1	2	3	5	2.294524	1	0.520000	3.450000	0.694151	0.040000	0	1.000000	0.040000	0.223318	0.040000	0	0.020000	1.000000
FARP2	9855	broad.mit.edu	37	2	242312551	242312551	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242312551T>A	ENST00000264042.3	+	2	199	c.29T>A	c.(28-30)gTc>gAc	p.V10D	FARP2_ENST00000373287.4_Missense_Mutation_p.V10D|FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000545004.1_Missense_Mutation_p.V10D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2			43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)			ACATACAGAGTCCTGCAGACT	0.463000																								0							SO:0001583	missense			ENST00000264042.3	1	1	hg19	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876107	0.33162	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000418082;ENST00000445489	T;D;D;T;T	0.83591	-1.11;-1.73;-1.74;-0.31;-1.13	5.65	-2.92	0.05615	.	0.515409	0.19294	N	0.117813	T	0.80737	0.4680	L	0.57536	1.79	0.27964	N	0.936655	P;P;P	0.46512	0.879;0.773;0.664	P;P;B	0.48270	0.572;0.572;0.235	T	0.76250	-0.3028	10	0.49607	T	0.09	.	11.2139	0.48815	0.0:0.4967:0.0:0.5033	.	10;10;10	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	D	10	ENSP00000264042:V10D;ENSP00000443876:V10D;ENSP00000362384:V10D;ENSP00000393376:V10D;ENSP00000388167:V10D	ENSP00000264042:V10D	V	+	2	0	FARP2	241961224	0.907000	0.30839	0.057000	0.19452	0.532000	0.34746	1.218000	0.32467	-0.815000	0.04346	0.460000	0.39030	GTC		TCGA-HZ-A9TJ-01A-11D-A40W-08	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1	1	0	1	99	178	0	32	1	9.929730e-01	6	11	0	32	2		0	0	0	0	0	2	1	1	98	173	0	32	2								-20.000000	1	1	0	0		1	2	3	5	2.294524	1	0.520000	3.450000	0.694151	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
FARP2	9855	broad.mit.edu	37	2	242373703	242373703	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242373703T>A	ENST00000264042.3	+	10	1168	c.998T>A	c.(997-999)gTc>gAc	p.V333D	FARP2_ENST00000373287.4_Missense_Mutation_p.V333D|FARP2_ENST00000545004.1_Missense_Mutation_p.V333D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2			43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)			GCAAAAGCCGTCTTCTTCAGC	0.468000																								0							SO:0001583	missense			ENST00000264042.3	1	1	hg19	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347971	0.82132	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.2	5.2	0.72013	FERM adjacent (FA) (1);	0.066906	0.64402	D	0.000010	D	0.91828	0.7414	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72625	0.978;0.968;0.978	D	0.91344	0.5099	10	0.35671	T	0.21	.	15.0632	0.71970	0.0:0.0:0.0:1.0	.	333;333;333	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	D	333;333;333;20	ENSP00000264042:V333D;ENSP00000443876:V333D;ENSP00000362384:V333D;ENSP00000412772:V20D	ENSP00000264042:V333D	V	+	2	0	FARP2	242022376	1.000000	0.71417	0.158000	0.22627	0.695000	0.40330	6.019000	0.70818	1.956000	0.56807	0.455000	0.32223	GTC		TCGA-HZ-A9TJ-01A-11D-A40W-08	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1	1	0	1	52	304	0	53	1	9.804798e-01	8	31	0	53	2		0	0	0	0	0	2	1	1	50	300	0	52	2								-19.999950	1	0	0	0		1	2	3	5	2.294524	1	0.520000	3.450000	0.694151	0.910000	6.800000e-01	1.000000	1.000000	0.903476	0.910000	1	0.780000	1.000000
OTOF	9381	broad.mit.edu	37	2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:26689975G>A	ENST00000272371.2	-	35	4480	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin			106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				ACCTTGAAGCGTCCCACAATG	0.642000													GBM(102;732 1451 20652 24062 31372)											0							SO:0001583	missense			ENST00000272371.2	1	1	hg19	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597730	0.46318	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80480	-1.13;-1.13;-1.12;-1.38;-1.38	4.69	-0.734	0.11140	.	0.045494	0.85682	D	0.000000	T	0.68504	0.3008	L	0.41236	1.265	0.80722	D	1	B;B;B;B	0.33171	0.397;0.026;0.4;0.026	B;B;B;B	0.20955	0.013;0.032;0.03;0.032	T	0.66172	-0.5990	10	0.59425	D	0.04	-20.9378	14.53	0.67917	0.0:0.0:0.3367:0.6633	.	1452;685;762;685	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	685;685;762;1452;1452	ENSP00000345137:R685C;ENSP00000344521:R685C;ENSP00000383906:R762C;ENSP00000272371:R1452C;ENSP00000385255:R1452C	ENSP00000272371:R1452C	R	-	1	0	OTOF	26543479	0.984000	0.35163	0.971000	0.41717	0.920000	0.55202	0.944000	0.29043	0.077000	0.16863	0.561000	0.74099	CGC		TCGA-HZ-A9TJ-01A-11D-A40W-08	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3	1	0	1	36	178	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	34	173	0	49	2								-20.000000	1	1	121412	1	34	1	3	4	7	2.336558	1	0.520000	3.450000	0.702048	0.990000	7.700000e-01	1.000000	1.000000	0.971698	0.990000	1	0.920000	1.000000
PLEKHH2	130271	broad.mit.edu	37	2	43937444	43937444	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:43937444G>T	ENST00000282406.4	+	13	2299	c.2189G>T	c.(2188-2190)gGt>gTt	p.G730V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2			56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			CTTAAAGGTGGTGAATTACTT	0.363000																								0							SO:0001583	missense			ENST00000282406.4	1	1	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832003	0.71258	.	.	ENSG00000152527	ENST00000282406	T	0.76578	-1.03	5.02	4.11	0.48088	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.056676	0.64402	D	0.000001	D	0.88429	0.6434	M	0.82433	2.59	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;1.0;0.999	D	0.90058	0.4154	10	0.87932	D	0	-10.151	15.0911	0.72195	0.0:0.1426:0.8574:0.0	.	730;167;730	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	V	730	ENSP00000282406:G730V	ENSP00000282406:G730V	G	+	2	0	PLEKHH2	43790948	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.354000	0.73036	1.043000	0.40175	0.563000	0.77884	GGT		TCGA-HZ-A9TJ-01A-11D-A40W-08	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1	108	379	0	67	1	8.747230e-01	8	7	0	67	2		0	0	0	0	0	2	1	1	107	374	0	66	2								-20.000000	1	1	0	0		1	3	4	7	2.336558	1	0.520000	3.450000	0.702048	0.990000	9.900000e-01	1.000000	1.000000	0.999995	0.990000	1	0.990000	1.000000
ABCG8	64241	broad.mit.edu	37	2	44102445	44102445	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:44102445C>T	ENST00000272286.2	+	11	1739	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8			45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)		Ezetimibe(DB00973)	CTGGCCGCCGCGGCCCTGCTC	0.617000																								0							SO:0001583	missense			ENST00000272286.2	1	1	hg19	CCDS1815.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.22	2.768002	0.49680	.	.	ENSG00000143921	ENST00000272286	T	0.74947	-0.89	4.73	3.85	0.44370	ABC-2 type transporter (1);	0.167185	0.52532	D	0.000066	T	0.81650	0.4867	M	0.65975	2.015	0.22968	N	0.998499	D;D	0.71674	0.998;0.998	P;P	0.61658	0.827;0.892	T	0.73528	-0.3954	10	0.42905	T	0.14	.	12.9331	0.58299	0.0:0.9209:0.0:0.0791	.	549;550	Q9H221-2;Q9H221	.;ABCG8_HUMAN	V	550	ENSP00000272286:A550V	ENSP00000272286:A550V	A	+	2	0	ABCG8	43955949	0.954000	0.32549	0.001000	0.08648	0.001000	0.01503	5.484000	0.66844	0.984000	0.38629	0.462000	0.41574	GCG		TCGA-HZ-A9TJ-01A-11D-A40W-08	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	1	0	1	113	238	0	56	0	1.049119e-01	0	2	0	56	2	0	0	0	1	0	0	2	1	1	111	235	0	52	2								-20.000000	1	1	121412	2	36	1	3	4	7	2.336558	1	0.520000	3.450000	0.702048	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PSME4	23198	broad.mit.edu	37	2	54133825	54133825	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:54133825C>T	ENST00000404125.1	-	26	2908	c.2853G>A	c.(2851-2853)cgG>cgA	p.R951R	PSME4_ENST00000421748.2_Silent_p.R95R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4			60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		CAGTTAGTGTCCGTAGCTAAG	0.308000																								0							SO:0001819	synonymous_variant			ENST00000404125.1	1	1	hg19	CCDS33197.2																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	0	0	0	14	370	0	51	0	3.380292e-01	1	30	0	51	2		0	0	0	0	0	2	1	9.997571e-01	14	368	0	50	2								-3.408037	1	1	0	0		1	3	4	7	2.336558	1	0.520000	3.450000	0.702048	0.250000	1.300000e-01	1.000000	0.220000	0.424000	0.250000	0	0.180000	1.000000
SOX11	6664	broad.mit.edu	37	2	5833216	5833216	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:5833216G>A	ENST00000322002.3	+	1	418	c.363G>A	c.(361-363)cgG>cgA	p.R121R	AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11			13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)				ACCGGCCCCGGAAAAAGCCCA	0.692000																								0							SO:0001819	synonymous_variant			ENST00000322002.3	0	1	hg19	CCDS1654.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	0	0	0	4	136	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	8.863296e-01	4	133	0	24	2								-6.722651	1	1	0	0		1	3	4	7	2.336558	1	0.520000	3.450000	0.702048	0.240000	6.000000e-02	1.000000	0.180000	0.406537	0.240000	0	0.130000	1.000000
ZNF638	27332	broad.mit.edu	37	2	71629120	71629120	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:71629120A>G	ENST00000409544.1	+	16	3362	c.2732A>G	c.(2731-2733)aAt>aGt	p.N911S	ZNF638_ENST00000264447.4_Missense_Mutation_p.N911S|ZNF638_ENST00000355812.3_Missense_Mutation_p.N911S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638			63					CTTGTCTCTAATTTGCCTAAT	0.269000																								0							SO:0001583	missense			ENST00000409544.1	1	1	hg19	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.981481	0.53827	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.56275	0.47;1.49;1.49	5.69	5.69	0.88448	.	0.272209	0.41500	D	0.000865	T	0.50769	0.1635	M	0.65975	2.015	0.80722	D	1	B;B;P;B	0.35272	0.361;0.287;0.493;0.361	B;B;B;B	0.33454	0.079;0.085;0.164;0.079	T	0.51132	-0.8744	10	0.33940	T	0.23	-4.9239	13.8977	0.63783	1.0:0.0:0.0:0.0	.	911;911;911;911	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	S	490;911;911;911	ENSP00000348066:N911S;ENSP00000264447:N911S;ENSP00000386433:N911S	ENSP00000264447:N911S	N	+	2	0	ZNF638	71482628	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.314000	0.65804	2.167000	0.68274	0.477000	0.44152	AAT		TCGA-HZ-A9TJ-01A-11D-A40W-08	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	1	0	0	13	223	0	39	0	1.368502e-01	1	10	0	39	2		0	0	0	0	0	2	1	9.995261e-01	13	219	0	38	2								-16.376160	1	1	0	0		1	3	4	7	2.336558	1	0.520000	3.450000	0.702048	0.390000	2.000000e-01	1.000000	0.350000	0.517522	0.390000	0	0.280000	1.000000
CD8B	926	broad.mit.edu	37	2	87085345	87085345	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:87085345T>G	ENST00000390655.6	-	2	296	c.238A>C	c.(238-240)Atc>Ctc	p.I80L	CD8B_ENST00000349455.3_Missense_Mutation_p.I80L|CD8B_ENST00000393761.2_Missense_Mutation_p.I80L|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.I80L|CD8B_ENST00000331469.2_Missense_Mutation_p.I80L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule			13					TCACCGTGGATAGTCCCTTTT	0.552000																								0							SO:0001583	missense			ENST00000390655.6	1	1	hg19	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	T	8.426	0.847470	0.17034	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	4.35	-6.41	0.01938	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.220850	0.00873	N	0.002047	T	0.41096	0.1144	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B;B	0.24132	0.016;0.001;0.004;0.002;0.001;0.098	B;B;B;B;B;B	0.15484	0.007;0.003;0.004;0.002;0.003;0.013	T	0.20042	-1.0287	10	0.28530	T	0.3	0.0063	7.5745	0.27928	0.1156:0.284:0.0:0.6004	.	80;80;80;80;80;80	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	L	80	ENSP00000377358:I80L;ENSP00000377356:I80L;ENSP00000340592:I80L;ENSP00000331172:I80L;ENSP00000375070:I80L	ENSP00000331172:I80L	I	-	1	0	CD8B	86938856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.673000	0.01951	-1.420000	0.02009	-2.142000	0.00338	ATC		TCGA-HZ-A9TJ-01A-11D-A40W-08	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	1	0	1	48	388	0	68	0	3.527135e-02	1	2	0	68	2		0	0	0	0	0	2	1	1	43	342	0	70	2								-20.000000	1	1	0	0		1	3	4	7	2.336558	1	0.520000	3.450000	0.702048	0.720000	5.200000e-01	1.000000	0.690000	0.766754	0.720000	0	0.610000	1.000000
ALCAM	214	broad.mit.edu	37	3	105290748	105290748	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:105290748A>G	ENST00000306107.5	+	15	2217	c.1717A>G	c.(1717-1719)Aag>Gag	p.K573E	ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E|ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E|ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule			28					AGAAAACAAAAAGTTAGAAGA	0.353000																								0							SO:0001583	missense			ENST00000306107.5	1	1	hg19	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.78|18.78	3.696782|3.696782	0.68386|0.68386	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|T	0.58060|0.25579	0.42;0.58;0.36;1.15|1.79	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999979|0.999979	D;D;D|.	0.63880|.	0.993;0.993;0.993|.	D;D;D|.	0.70935|.	0.956;0.956;0.971|.	T|T	0.02282|0.02282	-1.1183|-1.1183	10|8	0.44086|0.29301	T|T	0.13|0.29	-17.4549|-17.4549	15.7464|15.7464	0.77949|0.77949	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	295;560;573|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	E|R	573;560;522;295|333	ENSP00000305988:K573E;ENSP00000419236:K560E;ENSP00000418213:K522E;ENSP00000374577:K295E|ENSP00000418937:K333R	ENSP00000305988:K573E|ENSP00000418937:K333R	K|K	+|+	1|2	0|0	ALCAM|ALCAM	106773438|106773438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.000000|6.000000	0.70678|0.70678	2.176000|2.176000	0.68965|0.68965	0.455000|0.455000	0.32223|0.32223	AAG|AAA		TCGA-HZ-A9TJ-01A-11D-A40W-08	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	1	0	1	31	245	0	54	1	9.372080e-01	5	34	0	54	2		0	0	0	0	0	2	1	1	31	243	0	53	2								-13.006490	1	1	0	0		1	1	3	4	2.115187	1	0.520000	3.450000	0.670692	0.640000	4.400000e-01	1.000000	0.640000	0.678496	0.640000	0	0.530000	0.810000
SLC6A1	6529	broad.mit.edu	37	3	11067497	11067497	+	Silent	SNP	C	C	T	rs144034291		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:11067497C>T	ENST00000287766.4	+	9	1309	c.888C>T	c.(886-888)taC>taT	p.Y296Y	SLC6A1_ENST00000536032.1_Silent_p.Y118Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1			26		Ovarian(110;0.0392)		Clobazam(DB00349)|Tiagabine(DB00906)	TCTTCTCATACGGGCTGGGCC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000287766.4	1	1	hg19	CCDS2603.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	1	0	1	63	375	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	63	366	0	73	2								-3.319375	1	1	121412	2	38	1	1	3	4	2.097128	1	0.520000	3.450000	0.668325	0.810000	6.300000e-01	1.000000	0.800000	0.829110	0.810000	0	0.710000	0.960000
BFSP2	8419	broad.mit.edu	37	3	133119141	133119141	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:133119141C>T	ENST00000302334.2	+	1	303	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin			13					CTTGGGTGCCCGTGTGACCCG	0.667000																								0							SO:0001583	missense			ENST00000302334.2	1	1	hg19	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344701	0.95807	.	.	ENSG00000170819	ENST00000302334	D	0.84223	-1.82	5.95	5.95	0.96441	.	0.205916	0.34507	N	0.003911	D	0.90752	0.7097	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.60173	0.87	D	0.88493	0.3077	10	0.35671	T	0.21	-9.7541	20.3789	0.98926	0.0:1.0:0.0:0.0	.	72	Q13515	BFSP2_HUMAN	C	72	ENSP00000304987:R72C	ENSP00000304987:R72C	R	+	1	0	BFSP2	134601831	1.000000	0.71417	0.933000	0.37362	0.992000	0.81027	6.977000	0.76141	2.826000	0.97356	0.563000	0.77884	CGT		TCGA-HZ-A9TJ-01A-11D-A40W-08	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1	1	0	1	47	267	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	46	261	0	38	2								-2.546063	1	1	0	0		1	1	3	4	2.115187	1	0.520000	3.450000	0.670692	0.850000	6.300000e-01	1.000000	1.000000	0.859407	0.850000	1	0.730000	1.000000
SLC9A9	285195	broad.mit.edu	37	3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9			57					TCCAGGTCCACGCCAACTCTG	0.438000																								0							SO:0001583	missense			ENST00000316549.6	1	1	hg19	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026124	0.54683	.	.	ENSG00000181804	ENST00000316549	T	0.30714	1.52	5.11	4.24	0.50183	.	0.350509	0.24330	N	0.039471	T	0.33177	0.0854	M	0.80332	2.49	0.46542	D	0.999099	P	0.38420	0.63	B	0.33750	0.169	T	0.29336	-1.0015	10	0.66056	D	0.02	.	9.1529	0.36973	0.0:0.9029:0.0:0.0971	.	493	Q8IVB4	SL9A9_HUMAN	M	493	ENSP00000320246:V493M	ENSP00000320246:V493M	V	-	1	0	SLC9A9	144583639	0.990000	0.36364	0.987000	0.45799	0.986000	0.74619	1.403000	0.34612	1.376000	0.46267	0.655000	0.94253	GTG		TCGA-HZ-A9TJ-01A-11D-A40W-08	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	0	0	0	105	530	0	108	0	2.790805e-02	0	2	0	108	2		0	0	0	0	0	2	1	1	103	523	0	106	2								-20.000000	1	1	121412	10	45	1	1	3	4	2.115187	1	0.520000	3.450000	0.670692	0.930000	7.700000e-01	1.000000	1.000000	0.929360	0.930000	1	0.840000	1.000000
MCF2L2	23101	broad.mit.edu	37	3	183017842	183017842	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:183017842T>A	ENST00000328913.3	-	11	1553	c.1256A>T	c.(1255-1257)aAa>aTa	p.K419I	MCF2L2_ENST00000473233.1_Missense_Mutation_p.K419I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000447025.2_Missense_Mutation_p.K419I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2			72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		AATGTCCCATTTTTTCTTGTT	0.458000																								0							SO:0001583	missense			ENST00000328913.3	1	1	hg19	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726819	0.48833	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.59	0.741	0.18336	.	0.117224	0.56097	D	0.000033	T	0.47116	0.1428	M	0.82630	2.6	0.32472	N	0.542635	P;D	0.63880	0.904;0.993	P;P	0.57371	0.465;0.819	T	0.58561	-0.7615	10	0.56958	D	0.05	.	8.7236	0.34456	0.0:0.2264:0.0:0.7736	.	419;419	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	I	419;419;419;19;419	ENSP00000328118:K419I;ENSP00000420070:K419I;ENSP00000388190:K419I;ENSP00000414131:K419I	ENSP00000328118:K419I	K	-	2	0	MCF2L2	184500536	0.996000	0.38824	0.541000	0.28102	0.201000	0.24016	2.616000	0.46376	-0.021000	0.14009	-0.290000	0.09829	AAA		TCGA-HZ-A9TJ-01A-11D-A40W-08	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	1	0	0	28	322	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	28	321	0	74	2								-9.043142	1	1	0	0		1	1	2	3	1.723513	1	0.520000	3.450000	0.595687	0.380000	2.500000e-01	1.000000	0.360000	0.496381	0.380000	0	0.310000	1.000000
PFKFB4	5210	broad.mit.edu	37	3	48563059	48563059	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48563059T>A	ENST00000232375.3	-	10	1143	c.1031A>T	c.(1030-1032)tAt>tTt	p.Y344F	PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000383734.2_Intron	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4			14					CTCCAGTGGATAATTATCCTG	0.557000																								0							SO:0001583	missense			ENST00000232375.3	1	1	hg19	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822425	0.32237	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000541519	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	4.1	4.1	0.47936	Histidine phosphatase superfamily, clade-1 (2);	0.252467	0.41097	D	0.000943	T	0.48960	0.1529	N	0.12663	0.25	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.17722	0.019;0.001;0.017	T	0.44787	-0.9305	10	0.37606	T	0.19	-5.5052	7.0254	0.24936	0.2025:0.0:0.0:0.7974	.	333;337;344	B7Z5C3;Q66S35;Q16877	.;.;F264_HUMAN	F	344;333;337;310	ENSP00000232375:Y344F;ENSP00000438908:Y333F;ENSP00000388394:Y337F;ENSP00000437446:Y310F	ENSP00000232375:Y344F	Y	-	2	0	PFKFB4	48538063	0.498000	0.26075	1.000000	0.80357	0.990000	0.78478	3.035000	0.49759	1.844000	0.53588	0.383000	0.25322	TAT		TCGA-HZ-A9TJ-01A-11D-A40W-08	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	1	0	0	14	142	0	29	0	2.663005e-02	0	3	0	29	2		0	0	0	0	0	2	1	9.997703e-01	14	139	0	29	2								-19.802350	1	1	0	0		1	1	3	4	2.097128	1	0.520000	3.450000	0.668325	0.530000	2.900000e-01	1.000000	0.490000	0.579526	0.530000	0	0.400000	0.750000
UBA7	7318	broad.mit.edu	37	3	49842859	49842859	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:49842859A>T	ENST00000333486.3	-	24	3079	c.2921T>A	c.(2920-2922)cTg>cAg	p.L974Q	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7			33					CTGCTGAACCAGTTCTGTCAC	0.617000																								0							SO:0001583	missense			ENST00000333486.3	1	1	hg19	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255794	0.59321	.	.	ENSG00000182179	ENST00000333486	T	0.57752	0.38	5.36	5.36	0.76844	Ubiquitin-activating enzyme e1, C-terminal (1);	0.261023	0.25634	N	0.029323	T	0.72358	0.3450	M	0.80183	2.485	0.45150	D	0.998165	D	0.89917	1.0	D	0.83275	0.996	T	0.76377	-0.2981	10	0.87932	D	0	-1.9099	11.7536	0.51862	1.0:0.0:0.0:0.0	.	974	P41226	UBA7_HUMAN	Q	974	ENSP00000333266:L974Q	ENSP00000333266:L974Q	L	-	2	0	UBA7	49817863	0.105000	0.21958	0.392000	0.26245	0.872000	0.50106	2.681000	0.46926	2.026000	0.59711	0.460000	0.39030	CTG		TCGA-HZ-A9TJ-01A-11D-A40W-08	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	1	0	1	94	119	0	27	1	1	115	74	0	27	2		0	0	0	0	0	2	1	1	92	118	0	27	2								-20.000000	1	1	0	0		1	1	3	4	2.097128	1	0.520000	3.450000	0.668325	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
CADM2	253559	broad.mit.edu	37	3	85961592	85961592	+	Missense_Mutation	SNP	G	G	A	rs150681488		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:85961592G>A	ENST00000407528.2	+	5	634	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q|CADM2_ENST00000383699.3_Missense_Mutation_p.R200Q	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2			38		Lung NSC(201;0.0148)			CTGGACTTCCGAGTGGACCGG	0.433000																								0							SO:0001583	missense			ENST00000407528.2	1	1	hg19	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.020020	0.19433	0.0	1.16E-4	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76578	-1.03;-1.03;-1.03	5.5	4.62	0.57501	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.280225	0.38058	N	0.001838	T	0.43411	0.1246	N	0.01874	-0.695	0.32061	N	0.595716	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.08055	0.002;0.002;0.003	T	0.49606	-0.8922	10	0.07030	T	0.85	.	3.7449	0.08544	0.2201:0.0:0.5739:0.206	.	193;200;191	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	Q	200;191;193	ENSP00000373200:R200Q;ENSP00000384575:R191Q;ENSP00000384193:R193Q	ENSP00000373200:R200Q	R	+	2	0	CADM2	86044282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.202000	0.58446	2.583000	0.87209	0.591000	0.81541	CGA		TCGA-HZ-A9TJ-01A-11D-A40W-08	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	1	0	1	72	143	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	70	139	0	45	2								-9.060599	1	1	121412	2	36	1	1	3	4	2.115187	1	0.520000	3.450000	0.670692	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
LRBA	987	broad.mit.edu	37	4	151738335	151738335	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:151738335A>G	ENST00000357115.3	-	31	5489	c.5246T>C	c.(5245-5247)gTc>gCc	p.V1749A	LRBA_ENST00000510413.1_Missense_Mutation_p.V1749A|LRBA_ENST00000507224.1_Missense_Mutation_p.V1749A|LRBA_ENST00000535741.1_Missense_Mutation_p.V1749A	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing			91	all_hematologic(180;0.151)				AACCACACTGACAGCATTGGT	0.398000																								0							SO:0001583	missense			ENST00000357115.3	1	1	hg19	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.384896|4.384896	0.82792|0.82792	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.58060	.|0.77;0.92;0.77;0.36	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.860939	.|0.10195	.|N	.|0.704143	T|T	0.72875|0.72875	0.3515|0.3515	M|M	0.72479|0.72479	2.2|2.2	0.58432|0.58432	D|D	0.999994|0.999994	.|P;D	.|0.67145	.|0.745;0.996	.|B;D	.|0.76071	.|0.251;0.987	T|T	0.63184|0.63184	-0.6694|-0.6694	5|10	.|0.27082	.|T	.|0.32	.|.	16.4323|16.4323	0.83853|0.83853	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1749;1749	.|P50851;P50851-2	.|LRBA_HUMAN;.	P|A	402|1749	.|ENSP00000446299:V1749A;ENSP00000421552:V1749A;ENSP00000349629:V1749A;ENSP00000422180:V1749A	.|ENSP00000349629:V1749A	S|V	-|-	1|2	0|0	LRBA|LRBA	151957785|151957785	0.999000|0.999000	0.42202|0.42202	0.971000|0.971000	0.41717|0.41717	0.980000|0.980000	0.70556|0.70556	4.766000|4.766000	0.62279|0.62279	2.281000|2.281000	0.76405|0.76405	0.528000|0.528000	0.53228|0.53228	TCA|GTC		TCGA-HZ-A9TJ-01A-11D-A40W-08	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	1	0	1	84	260	0	66	1	9.757865e-01	6	15	0	66	2		0	0	0	0	0	2	1	1	84	255	1	64	18								-20.000000	1	1	0	0		1	1	2	3	1.835097	1	0.520000	3.450000	0.619048	0.990000	9.600000e-01	1.000000	1.000000	0.998214	0.990000	1	0.990000	1.000000
SLC12A2	6558	broad.mit.edu	37	5	127487026	127487026	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:127487026C>G	ENST00000262461.2	+	14	2390	c.2201C>G	c.(2200-2202)gCt>gGt	p.A734G	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A734G	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2			48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AACTGGTGGGCTGCATTGCTA	0.378000																								0							SO:0001583	missense			ENST00000262461.2	1	1	hg19	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168369	0.78339	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98968	-5.28;-5.28	4.7	4.7	0.59300	Amino acid permease domain (1);	0.124211	0.53938	D	0.000048	D	0.99017	0.9664	M	0.90252	3.1	0.80722	D	1	D;D	0.56746	0.971;0.977	P;P	0.54544	0.641;0.755	D	0.99734	1.1013	10	0.87932	D	0	.	18.2088	0.89864	0.0:1.0:0.0:0.0	.	734;734	P55011-3;P55011	.;S12A2_HUMAN	G	734	ENSP00000262461:A734G;ENSP00000340878:A734G	ENSP00000262461:A734G	A	+	2	0	SLC12A2	127514925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.626000	0.88956	0.655000	0.94253	GCT		TCGA-HZ-A9TJ-01A-11D-A40W-08	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	1	0	1	55	320	0	79	1	9.610810e-01	3	30	0	79	2		0	0	0	0	0	2	1	1	54	319	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.848393	1	0.520000	3.450000	0.619048	0.700000	5.400000e-01	0.890000	0.720000	0.718624	0.700000	0	0.620000	0.800000
PCDHGB4	8641	broad.mit.edu	37	5	140769477	140769477	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:140769477C>T	ENST00000519479.1	+	1	2026	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_5'Flank	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4			37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TATCACTGACCGCCCCGACCC	0.622000																								0							SO:0001583	missense			ENST00000519479.1	1	0	hg19	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	14.95	2.687676	0.48097	.	.	ENSG00000253953	ENST00000519479	T	0.51574	0.7	5.4	-1.69	0.08186	.	.	.	.	.	T	0.59046	0.2165	M	0.79258	2.445	0.09310	N	1	D;D	0.69078	0.991;0.997	P;P	0.55615	0.78;0.489	T	0.56829	-0.7914	9	0.41790	T	0.15	.	12.3444	0.55111	0.2819:0.24:0.4781:0.0	.	676;676	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	C	676	ENSP00000428288:R676C	ENSP00000428288:R676C	R	+	1	0	PCDHGB4	140749661	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.066000	0.11598	-0.317000	0.08677	0.563000	0.77884	CGC		TCGA-HZ-A9TJ-01A-11D-A40W-08	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	0	0	1	92	410	2	116		0	0	0	2	116	2		0	0	0	0	0	2	1	1	92	403	1	115	16								-3.230914	1	1	0	0		1	1	2	3	1.848393	1	0.520000	3.450000	0.619048	0.880000	7.200000e-01	1.000000	1.000000	0.888580	0.880000	1	0.800000	0.970000
RBM27	54439	broad.mit.edu	37	5	145651191	145651191	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:145651191G>A	ENST00000265271.5	+	19	3108	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E	RBM27_ENST00000506502.1_Missense_Mutation_p.G926E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27			39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTAACAGTTGGAGGATTCATT	0.443000																								0							SO:0001583	missense			ENST00000265271.5	1	1	hg19	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225732	0.39300	.	.	ENSG00000091009	ENST00000265271	T	0.41065	1.01	4.93	3.02	0.34903	.	0.351548	0.27019	N	0.021331	T	0.26048	0.0635	N	0.22421	0.69	0.32293	N	0.566076	B	0.19583	0.037	B	0.13407	0.009	T	0.18935	-1.0321	10	0.30854	T	0.27	-10.6489	10.0237	0.42059	0.0:0.1252:0.635:0.2397	.	981	Q9P2N5	RBM27_HUMAN	E	981	ENSP00000265271:G981E	ENSP00000265271:G981E	G	+	2	0	RBM27	145631384	0.676000	0.27567	1.000000	0.80357	0.993000	0.82548	2.866000	0.48420	2.445000	0.82738	0.650000	0.86243	GGA		TCGA-HZ-A9TJ-01A-11D-A40W-08	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	1	0	1	31	244	0	63	1	7.703714e-01	3	21	0	63	2		0	0	0	0	0	2	1	1	31	240	0	62	2								-3.221916	1	1	0	0		1	1	2	3	1.848393	1	0.520000	3.450000	0.619048	0.540000	3.800000e-01	0.740000	0.540000	0.558597	0.540000	0	0.460000	0.650000
GRIA1	2890	broad.mit.edu	37	5	153026597	153026597	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:153026597G>A	ENST00000285900.5	+	3	673	c.330G>A	c.(328-330)acG>acA	p.T110T	GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000448073.4_Silent_p.T120T|GRIA1_ENST00000521843.2_Silent_p.T41T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Silent_p.T120T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	p.T110T(2)		81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCTTCATTACGCCGAGCTTTC	0.498000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000285900.5	1	1	hg19	CCDS4322.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3	1	0	1	109	348	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	109	346	0	73	2								-20.000000	1	1	0	0		1	1	2	3	1.848393	1	0.520000	3.450000	0.619048	0.990000	9.600000e-01	1.000000	1.000000	0.998293	0.990000	1	0.990000	1.000000
C5orf42	65250	broad.mit.edu	37	5	37187926	37187926	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:37187926C>A	ENST00000508244.1	-	21	3923	c.3830G>T	c.(3829-3831)tGt>tTt	p.C1277F	C5orf42_ENST00000274258.7_Missense_Mutation_p.C158F|C5orf42_ENST00000425232.2_Missense_Mutation_p.C1277F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42			79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		ACACAGAGCACAAAGTTCTCT	0.358000																								0							SO:0001583	missense			ENST00000508244.1	1	1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644168	0.87859	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.75367	-0.77;-0.77;-0.93;-0.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	L	0.32530	0.975	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83156	-0.0101	10	0.87932	D	0	.	19.7365	0.96208	0.0:1.0:0.0:0.0	.	1277;158	E9PH94;Q9H799	.;CE042_HUMAN	F	1277;1277;158;325;158	ENSP00000421690:C1277F;ENSP00000389014:C1277F;ENSP00000274258:C158F;ENSP00000424223:C325F	ENSP00000274258:C158F	C	-	2	0	C5orf42	37223683	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.568000	0.73987	2.749000	0.94314	0.491000	0.48974	TGT		TCGA-HZ-A9TJ-01A-11D-A40W-08	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	1	0	0	9	117	0	29	0	6.661822e-03	0	2	0	29	2		0	0	0	0	0	2	1	9.945717e-01	9	116	0	29	2								-13.689020	1	1	0	0		1	0	5	5	1.749031	1	0.520000	3.450000	0.600931	0.370000	1.700000e-01	1.000000	0.330000	0.477581	0.370000	0	0.250000	1.000000
HCN1	348980	broad.mit.edu	37	5	45262241	45262241	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:45262241C>T	ENST00000303230.4	-	8	2512	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1			156					ACCGCCGTCACGGGTTGAGGG	0.677000																								0							SO:0001583	missense			ENST00000303230.4	0	1	hg19	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	3.532	-0.095427	0.07010	.	.	ENSG00000164588	ENST00000303230	D	0.97430	-4.38	5.02	3.2	0.36748	.	0.562530	0.16681	N	0.203943	D	0.91851	0.7421	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	D	0.85041	0.0923	10	0.62326	D	0.03	.	6.1826	0.20480	0.0:0.6436:0.1339:0.2225	.	819	O60741	HCN1_HUMAN	M	819	ENSP00000307342:V819M	ENSP00000307342:V819M	V	-	1	0	HCN1	45297998	0.033000	0.19621	0.118000	0.21660	0.722000	0.41435	1.321000	0.33678	0.596000	0.29794	0.655000	0.94253	GTG		TCGA-HZ-A9TJ-01A-11D-A40W-08	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	0	0	0	10	111	1	18		0	0	0	1	18	2		0	0	0	0	0	2	0	5.435040e-02	8	106	1	17	18								-15.543950	1	1	0	0		1	1	2	3	1.854437	1	0.520000	3.450000	0.619048	0.410000	2.100000e-01	0.680000	0.390000	0.431201	0.410000	0	0.300000	0.550000
PLEKHG1	57480	broad.mit.edu	37	6	151054871	151054871	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:151054871G>A	ENST00000358517.2	+	2	265	c.54G>A	c.(52-54)tcG>tcA	p.S18S	PLEKHG1_ENST00000367328.1_Silent_p.S18S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1			53			BRCA - Breast invasive adenocarcinoma(37;0.0923)		CATCATCCTCGGCCTCTTCCC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000358517.2	0	1	hg19	CCDS34552.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	0	0	0	6	410	0	69	0	5.152734e-02	0	21	0	69	2	0	0	0	1	0	0	2	1	9.630802e-01	6	402	0	69	2								-2.655910	1	1	0	0		1	2	2	4	2.056728	0	0.520000	3.450000	0.661017	0.090000	2.000000e-02	1.000000	0.070000	0.228851	0.090000	0	0.050000	0.190000
TIAM2	26230	broad.mit.edu	37	6	155450620	155450620	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:155450620G>A	ENST00000461783.3	+	6	1536	c.263G>A	c.(262-264)gGt>gAt	p.G88D	TIAM2_ENST00000360366.4_Missense_Mutation_p.G88D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.G88D|TIAM2_ENST00000456144.1_Missense_Mutation_p.G88D|TIAM2_ENST00000529824.2_Missense_Mutation_p.G88D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2			65		Ovarian(120;0.196)			GTCTCCAGAGGTGTTGCCTAC	0.552000																								0							SO:0001583	missense			ENST00000461783.3	1	1	hg19	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198064	0.22037	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.06933	3.33;3.24;3.3;3.33;3.32;3.3	5.33	4.46	0.54185	.	0.114029	0.64402	N	0.000011	T	0.03915	0.0110	M	0.62723	1.935	0.80722	D	1	B	0.30021	0.265	B	0.24006	0.05	T	0.15263	-1.0443	10	0.51188	T	0.08	.	7.9497	0.30008	0.0808:0.0:0.7604:0.1588	.	88	Q8IVF5	TIAM2_HUMAN	D	88;334;88;88;88;88;88;88	ENSP00000437188:G88D;ENSP00000434901:G88D;ENSP00000407746:G88D;ENSP00000327315:G88D;ENSP00000353528:G88D;ENSP00000433348:G88D	ENSP00000327315:G88D	G	+	2	0	TIAM2	155492312	0.975000	0.34042	0.131000	0.22000	0.014000	0.08584	2.069000	0.41481	1.230000	0.43646	0.561000	0.74099	GGT		TCGA-HZ-A9TJ-01A-11D-A40W-08	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	1	0	0	14	172	0	30	0	1.905473e-02	1	2	0	30	2		0	0	0	0	0	2	1	9.997830e-01	14	171	0	30	2								-18.966090	1	1	0	0		1	2	2	4	2.056728	0	0.520000	3.450000	0.661017	0.440000	2.400000e-01	1.000000	0.400000	0.519246	0.440000	0	0.330000	0.720000
RNF39	80352	broad.mit.edu	37	6	30043491	30043491	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:30043491C>T	ENST00000244360.6	-	1	173	c.76G>A	c.(76-78)Gca>Aca	p.A26T	RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39								TTAACTTTTGCCGCTTTCCGC	0.602000													NSCLC(8;188 360 1520 20207 31481)											0							SO:0001583	missense			ENST00000244360.6	0	1	hg19	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	17.05	3.290422	0.59976	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.70749	-0.03;-0.51	3.51	0.223	0.15292	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.17137	-1.0379	9	0.66056	D	0.02	.	2.3362	0.04248	0.1257:0.4139:0.293:0.1674	.	26;26	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	T	26	ENSP00000365942:A26T;ENSP00000244360:A26T	ENSP00000244360:A26T	A	-	1	0	RNF39	30151470	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-0.148000	0.10219	0.251000	0.21505	0.436000	0.28706	GCA		TCGA-HZ-A9TJ-01A-11D-A40W-08	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	0	0	0	6	373	1	79	0	1.241839e-02	0	9	1	79	2		0	0	0	0	0	2	0	1.452191e-02	6	368	1	76	17								-2.312564	0	1	0	0		1	2	2	4	2.044431	0	0.520000	3.450000	0.659768	0.100000	2.000000e-02	1.000000	0.080000	0.241452	0.100000	0	0.050000	0.240000
COL19A1	1310	broad.mit.edu	37	6	70831785	70831785	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:70831785T>C	ENST00000322773.4	+	17	1394	c.1292T>C	c.(1291-1293)aTa>aCa	p.I431T	COL19A1_ENST00000393344.1_Missense_Mutation_p.I53T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1			109					CCTCCTGGAATACAAGGAATA	0.269000																								0							SO:0001583	missense			ENST00000322773.4	0	1	hg19	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	T	9.437	1.087165	0.20390	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	D;T;T	0.96136	-3.92;1.4;1.4	5.32	1.21	0.21127	.	1.367040	0.04335	N	0.353095	T	0.80602	0.4654	L	0.35542	1.07	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.72475	-0.4282	10	0.10636	T	0.68	.	2.6339	0.04952	0.1426:0.0899:0.1479:0.6195	.	431	Q14993	COJA1_HUMAN	T	431;53;5	ENSP00000316030:I431T;ENSP00000377013:I53T;ENSP00000416556:I5T	ENSP00000316030:I431T	I	+	2	0	COL19A1	70888506	0.027000	0.19231	0.069000	0.20011	0.880000	0.50808	0.635000	0.24629	0.501000	0.28013	0.533000	0.62120	ATA		TCGA-HZ-A9TJ-01A-11D-A40W-08	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1	0	0	0	7	517	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	9.792159e-01	7	506	0	90	2								-3.323001	1	1	0	0		1	2	2	4	2.056728	0	0.520000	3.450000	0.661017	0.080000	1.000000e-02	1.000000	0.070000	0.221878	0.080000	0	0.050000	0.170000
DSP	1832	broad.mit.edu	37	6	7571743	7571743	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:7571743C>G	ENST00000379802.3	+	14	2170	c.1829C>G	c.(1828-1830)tCt>tGt	p.S610C	DSP_ENST00000418664.2_Missense_Mutation_p.S610C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			AAAATACAGTCTCAGTTCACC	0.488000																								0							SO:0001583	missense			ENST00000379802.3	1	1	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988573	0.53934	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.75050	-0.57;-0.9	5.64	5.64	0.86602	.	0.352625	0.24412	N	0.038749	T	0.51126	0.1656	N	0.14661	0.345	0.35388	D	0.790495	B;B	0.28055	0.199;0.199	B;B	0.26864	0.074;0.074	T	0.58707	-0.7589	10	0.72032	D	0.01	.	19.7154	0.96115	0.0:1.0:0.0:0.0	.	657;610	Q4LE79;P15924	.;DESP_HUMAN	C	610;610;415	ENSP00000369129:S610C;ENSP00000396591:S610C	ENSP00000369129:S610C	S	+	2	0	DSP	7516742	0.998000	0.40836	0.964000	0.40570	0.988000	0.76386	3.766000	0.55280	2.664000	0.90586	0.655000	0.94253	TCT		TCGA-HZ-A9TJ-01A-11D-A40W-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	0	42	682	0	124	0	9.252693e-01	1	72	0	124	2		0	0	0	0	0	2	1	1	42	673	0	123	2								-7.284908	1	1	0	0		1	2	2	4	2.044431	0	0.520000	3.450000	0.659768	0.320000	2.200000e-01	1.000000	0.320000	0.428115	0.320000	0	0.270000	0.470000
MUC17	140453	broad.mit.edu	37	7	100679220	100679220	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:100679220C>T	ENST00000306151.4	+	3	4587	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated			343	Lung NSC(181;0.136)|all_lung(186;0.182)				GCAATCTCAACGCCTAGTGAA	0.473000																								0							SO:0001583	missense			ENST00000306151.4	1	1	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.032	-1.330977	0.01298	2.27E-4	1.16E-4	ENSG00000169876	ENST00000306151	T	0.03330	3.97	0.922	-0.0705	0.13747	.	.	.	.	.	T	0.04092	0.0114	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	P	0.53185	0.72	T	0.45454	-0.9260	9	0.32370	T	0.25	.	4.9293	0.13909	0.0:0.6094:0.3906:0.0	.	1508	Q685J3	MUC17_HUMAN	M	1508	ENSP00000302716:T1508M	ENSP00000302716:T1508M	T	+	2	0	MUC17	100465940	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.062000	0.14389	0.011000	0.14865	-1.865000	0.00557	ACG		TCGA-HZ-A9TJ-01A-11D-A40W-08	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	0	100	1257	0	196	0	5.565760e-03	0	2	0	196	2		0	0	0	0	0	2	1	1	99	1152	0	184	2								-18.445280	1	0	121374	23	48	1	3	5	8	2.700920	1	0.520000	3.450000	0.741658	0.540000	4.200000e-01	1.000000	0.530000	0.643524	0.540000	0	0.480000	1.000000
NUP205	23165	broad.mit.edu	37	7	135304378	135304378	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:135304378A>G	ENST00000285968.6	+	29	4197	c.4171A>G	c.(4171-4173)Att>Gtt	p.I1391V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa			93					TTTTGCTTCTATTGGAGATTC	0.368000																								0							SO:0001583	missense			ENST00000285968.6	1	1	hg19	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	6.227	0.410051	0.11812	.	.	ENSG00000155561	ENST00000285968	T	0.29142	1.58	5.67	2.02	0.26589	.	0.133675	0.64402	N	0.000002	T	0.12347	0.0300	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14755	-1.0461	10	0.14656	T	0.56	-22.4023	6.4248	0.21764	0.6149:0.1191:0.266:0.0	.	1391	Q92621	NU205_HUMAN	V	1391	ENSP00000285968:I1391V	ENSP00000285968:I1391V	I	+	1	0	NUP205	134954918	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	4.161000	0.58170	0.107000	0.17824	0.397000	0.26171	ATT		TCGA-HZ-A9TJ-01A-11D-A40W-08	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1	1	0	0	13	163	0	43	1	1.571301e-01	2	7	0	43	2		0	0	0	0	0	2	1	9.995314e-01	13	159	0	42	2								-18.283880	1	0	0	0		1	0	1	1	1.358100	1	0.520000	3.450000	0.464286	0.250000	1.400000e-01	0.410000	0.260000	0.269284	0.250000	0	0.190000	0.330000
PTPRN2	5799	broad.mit.edu	37	7	157370783	157370783	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:157370783G>A	ENST00000389418.4	-	18	2555	c.2546C>T	c.(2545-2547)gCg>gTg	p.A849V	PTPRN2_ENST00000389413.3_Missense_Mutation_p.A820V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A811V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A872V|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A832V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2			86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		GCCGTTCTCCGCGAGGGGTGT	0.622000																								0							SO:0001583	missense			ENST00000389418.4	1	1	hg19	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	2.966	-0.213558	0.06140	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.33	5.33	0.75918	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.607774	0.16155	N	0.227082	T	0.48114	0.1482	N	0.00134	-2.025	0.09310	N	1	B;B;B;B;B	0.17667	0.02;0.009;0.003;0.023;0.009	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.002;0.003	T	0.26744	-1.0094	10	0.02654	T	1	.	14.2668	0.66123	0.0732:0.0:0.9268:0.0	.	872;811;820;832;849	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	V	811;820;832;849;872	ENSP00000387114:A811V;ENSP00000374064:A820V;ENSP00000374067:A832V;ENSP00000374069:A849V;ENSP00000385464:A872V	ENSP00000374064:A820V	A	-	2	0	PTPRN2	157063544	0.929000	0.31497	0.190000	0.23270	0.069000	0.16628	5.203000	0.65174	2.488000	0.83962	0.655000	0.94253	GCG		TCGA-HZ-A9TJ-01A-11D-A40W-08	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1	1	0	0	10	145	0	51	0	1.557914e-01	0	10	0	51	2		0	0	0	0	0	2	1	9.964335e-01	10	138	0	50	2								-13.738760	1	1	0	0		1	0	2	2	1.385510	1	0.520000	3.450000	0.520000	0.270000	1.300000e-01	1.000000	0.240000	0.406292	0.270000	0	0.190000	1.000000
DNAH11	8701	broad.mit.edu	37	7	21599227	21599227	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:21599227G>A	ENST00000409508.3	+	4	730	c.699G>A	c.(697-699)ccG>ccA	p.P233P	DNAH11_ENST00000328843.6_Silent_p.P233P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11			230					GTAGGCCACCGTCAAACGAAA	0.308000									Kartagener syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000409508.3	1	1	hg19																																																																																					TCGA-HZ-A9TJ-01A-11D-A40W-08	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	1	14	129	0	29	0	0	1	0	0	29	2		0	0	0	0	0	2	1	9.997843e-01	14	127	0	29	2								-7.815694	1	1	120704	3	32	1	1	4	5	2.427488	1	0.520000	3.450000	0.711365	0.670000	3.700000e-01	1.000000	1.000000	0.698269	0.670000	0	0.500000	0.950000
CCL24	6369	broad.mit.edu	37	7	75441265	75441265	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:75441265C>T	ENST00000416943.1	-	4	302	c.209G>A	c.(208-210)gGc>gAc	p.G70D	CCL24_ENST00000222902.2_Missense_Mutation_p.G70D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24			3					GAACTGCTGGCCCTTCTTGGT	0.612000																								0							SO:0001583	missense			ENST00000416943.1	0	1	hg19	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	C	9.453	1.091082	0.20471	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.05925	3.37;3.37	4.15	3.26	0.37387	Chemokine interleukin-8-like domain (3);	0.680432	0.13196	N	0.406384	T	0.08670	0.0215	L	0.61036	1.89	0.27743	N	0.944416	B	0.29716	0.255	B	0.30716	0.119	T	0.15235	-1.0444	10	0.36615	T	0.2	.	8.3206	0.32126	0.0:0.8859:0.0:0.1141	.	70	O00175	CCL24_HUMAN	D	70	ENSP00000222902:G70D;ENSP00000400533:G70D	ENSP00000222902:G70D	G	-	2	0	CCL24	75279201	0.659000	0.27411	0.245000	0.24217	0.370000	0.29829	1.945000	0.40273	0.862000	0.35528	0.555000	0.69702	GGC		TCGA-HZ-A9TJ-01A-11D-A40W-08	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	0	0	0	6	255	0	57	0	4.924807e-02	0	13	0	57	2		0	0	0	0	0	2	1	9.637746e-01	6	251	0	56	2								-6.821953	1	1	0	0		1	2	2	4	2.209518	1	0.520000	3.450000	0.684211	0.140000	5.000000e-02	0.280000	0.130000	0.155358	0.140000	0	0.090000	0.210000
FZD1	8321	broad.mit.edu	37	7	90894600	90894600	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:90894600C>T	ENST00000287934.2	+	1	818	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1			24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)		CCATCATGCCCAACCTGCTGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000287934.2	1	1	hg19	CCDS5620.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	0	0	0	23	530	0	45	0	1.081264e-01	0	13	0	45	2		0	0	0	0	0	2	1	9.999992e-01	23	519	0	42	2								-2.741919	1	1	0	0		1	3	6	9	2.774697	1	0.520000	3.450000	0.748691	0.330000	1.900000e-01	1.000000	0.320000	0.482991	0.330000	0	0.250000	1.000000
FAM135B	51059	broad.mit.edu	37	8	139165088	139165088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:139165088C>A	ENST00000395297.1	-	13	1800	c.1630G>T	c.(1630-1632)Gag>Tag	p.E544*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B			238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)		TGTCCATCCTCTGGACCTGGA	0.512000										HNSCC(54;0.14)														0							SO:0001587	stop_gained			ENST00000395297.1	0	1	hg19	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	40	8.288310	0.98745	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.45	4.57	0.56435	.	0.787170	0.12180	N	0.492215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-4.7828	13.4045	0.60903	0.0:0.9248:0.0:0.0752	.	.	.	.	X	544	.	ENSP00000276737:E544X	E	-	1	0	FAM135B	139234270	0.116000	0.22171	0.386000	0.26170	0.934000	0.57294	1.547000	0.36190	1.446000	0.47643	0.655000	0.94253	GAG		TCGA-HZ-A9TJ-01A-11D-A40W-08	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	1	0	0	22	239	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	9.999990e-01	22	238	0	57	2								-3.221886	1	1	0	0		1	1	2	3	1.883033	1	0.520000	3.450000	0.619048	0.410000	2.600000e-01	0.590000	0.420000	0.422811	0.410000	0	0.330000	0.500000
DLGAP2	9228	broad.mit.edu	37	8	1645335	1645335	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:1645335C>T	ENST00000421627.2	+	11	2713	c.2579C>T	c.(2578-2580)cCg>cTg	p.P860L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2			41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)			ATGCCGAGGCCGACGTCGCAG	0.667000																								0							SO:0001583	missense			ENST00000421627.2	1	1	hg19	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.766620|3.766620	0.69878|0.69878	0.0|0.0	2.41E-4|2.41E-4	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.22945|.	1.93|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.83695|.	0.5310|.	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.992|.	D;D|.	0.97110|.	1.0;0.976|.	D|.	0.86683|.	0.1918|.	10|.	0.87932|.	D|.	0|.	-12.8537|-12.8537	18.0887|18.0887	0.89466|0.89466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	925;939|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	L|X	891;860|863	ENSP00000400258:P860L|.	ENSP00000348366:P891L|.	P|R	+|+	2|1	0|2	DLGAP2|DLGAP2	1632742|1632742	1.000000|1.000000	0.71417|0.71417	0.060000|0.060000	0.19600|0.19600	0.254000|0.254000	0.26022|0.26022	7.404000|7.404000	0.79996|0.79996	2.270000|2.270000	0.75569|0.75569	0.561000|0.561000	0.74099|0.74099	CCG|CGA		TCGA-HZ-A9TJ-01A-11D-A40W-08	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1	13	88	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	9.995480e-01	13	84	0	25	2								-19.982970	1	1	120886	4	34	1	2	2	4	1.551692	0	0.520000	3.450000	0.552573	0.560000	3.100000e-01	1.000000	0.530000	0.605760	0.560000	0	0.420000	0.790000
RP1	6101	broad.mit.edu	37	8	55533656	55533656	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:55533656G>A	ENST00000220676.1	+	2	278	c.130G>A	c.(130-132)Gga>Aga	p.G44R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)			169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		CTACAAGAGCGGAGACCCCCA	0.547000													Colon(91;1014 1389 7634 14542 40420)											0							SO:0001583	missense			ENST00000220676.1	1	1	hg19	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162331	0.94727	.	.	ENSG00000104237	ENST00000220676	D	0.95272	-3.66	5.44	5.44	0.79542	Doublecortin domain (4);	0.000000	0.56097	D	0.000023	D	0.98182	0.9399	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99164	1.0862	10	0.87932	D	0	-18.28	19.2628	0.93974	0.0:0.0:1.0:0.0	.	44	P56715	RP1_HUMAN	R	44	ENSP00000220676:G44R	ENSP00000220676:G44R	G	+	1	0	RP1	55696209	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.790000	0.99075	2.545000	0.85829	0.650000	0.86243	GGA		TCGA-HZ-A9TJ-01A-11D-A40W-08	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	0	13	294	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	9.994793e-01	13	287	0	74	2								-3.013260	1	1	0	0		1	1	2	3	1.801915	1	0.520000	3.450000	0.619048	0.200000	1.100000e-01	0.340000	0.210000	0.219123	0.200000	0	0.150000	0.270000
NECAB1	64168	broad.mit.edu	37	8	91929840	91929840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:91929840C>T	ENST00000417640.2	+	6	815	c.478C>T	c.(478-480)Caa>Taa	p.Q160*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1			12			BRCA - Breast invasive adenocarcinoma(11;0.0499)		TACTGAGGAGCAAACCCGTCA	0.383000																								0							SO:0001587	stop_gained			ENST00000417640.2	0	1	hg19	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	C	39	7.736388	0.98462	.	.	ENSG00000123119	ENST00000417640	.	.	.	5.16	5.16	0.70880	.	0.110120	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.9093	18.6331	0.91368	0.0:1.0:0.0:0.0	.	.	.	.	X	160	.	ENSP00000387380:Q160X	Q	+	1	0	NECAB1	91999016	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.953000	0.75995	2.386000	0.81285	0.467000	0.42956	CAA		TCGA-HZ-A9TJ-01A-11D-A40W-08	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	1	0	0	15	209	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	9.998848e-01	15	208	0	42	2								-6.173016	1	1	0	0		1	1	2	3	1.792031	1	0.520000	3.450000	0.614272	0.330000	1.900000e-01	1.000000	0.320000	0.368991	0.330000	0	0.250000	0.440000
COL15A1	1306	broad.mit.edu	37	9	101802811	101802811	+	Silent	SNP	C	C	T	rs146647282		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:101802811C>T	ENST00000375001.3	+	23	2907	c.2484C>T	c.(2482-2484)gaC>gaT	p.D828D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1			107		Acute lymphoblastic leukemia(62;0.0562)			AGGGGCCGGACGGGTTGCCTG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000375001.3	1	1	hg19	CCDS35081.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	0	0	1	169	144	0	70	0	1	0	100	0	70	2		0	0	0	0	0	2	1	1	167	143	0	70	2								-3.075755	1	1	121412	57	51	1	0	3	3	1.817473	1	0.520000	3.450000	0.619048	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ASTN2	23245	broad.mit.edu	37	9	119976795	119976795	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:119976795T>A	ENST00000313400.4	-	3	957	c.857A>T	c.(856-858)gAg>gTg	p.E286V	ASTN2_ENST00000373996.3_Missense_Mutation_p.E286V|ASTN2_ENST00000361209.2_Missense_Mutation_p.E286V|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2			102					GATGGGAGTCTCCCGGATGGG	0.617000																								0							SO:0001583	missense			ENST00000313400.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	17.28	3.349878	0.61183	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.22743	2.09;2.08;2.13;1.94	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	T	0.31544	0.0800	N	0.24115	0.695	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.83275	0.996;0.991;0.96	T	0.05616	-1.0874	9	.	.	.	-22.8697	14.6696	0.68934	0.0:0.0:0.0:1.0	.	286;286;286	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	V	286;286;13;286	ENSP00000314038:E286V;ENSP00000363108:E286V;ENSP00000363098:E13V;ENSP00000354504:E286V	.	E	-	2	0	ASTN2	119016616	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.662000	0.83803	1.935000	0.56089	0.533000	0.62120	GAG		TCGA-HZ-A9TJ-01A-11D-A40W-08	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	17	212	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	9.999605e-01	16	205	0	38	2								-19.995220	1	1	0	0		1	0	3	3	1.826005	1	0.520000	3.450000	0.619048	0.360000	2.100000e-01	0.550000	0.360000	0.376610	0.360000	0	0.280000	0.460000
GPR21	2844	broad.mit.edu	37	9	125797611	125797611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:125797611C>T	ENST00000373642.1	+	1	806	c.766C>T	c.(766-768)Cga>Tga	p.R256*	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21			15					GGTCCTGTTTCGAATCACTAG	0.507000																								0							SO:0001587	stop_gained			ENST00000373642.1	0	1	hg19	CCDS6849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.225223|4.225223	0.79576|0.79576	0.0|0.0	1.16E-4|1.16E-4	ENSG00000188394|ENSG00000188394	ENST00000373642|ENST00000412269	.|.	.|.	.|.	5.93|5.93	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.64402|.	U|.	0.000006|.	.|T	.|0.66356	.|0.2781	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61456	.|-0.7059	.|5	0.30854|0.19590	T|T	0.27|0.45	-4.8434|-4.8434	16.7619|16.7619	0.85514|0.85514	0.1297:0.8703:0.0:0.0|0.1297:0.8703:0.0:0.0	.|.	.|.	.|.	.|.	X|L	256|248	.|.	ENSP00000362746:R256X|ENSP00000389239:S248L	R|S	+|+	1|2	2|0	GPR21|GPR21	124837432|124837432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	3.714000|3.714000	0.54889|0.54889	1.491000|1.491000	0.48482|0.48482	0.591000|0.591000	0.81541|0.81541	CGA|TCG		TCGA-HZ-A9TJ-01A-11D-A40W-08	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	1	0	0	33	558	1	94		0	0	0	1	94	2		0	0	0	0	0	2	1	9.633839e-01	33	555	1	91	21								-5.803027	1	1	121412	1	27	1	0	3	3	1.826005	1	0.520000	3.450000	0.619048	0.260000	1.800000e-01	0.370000	0.270000	0.277564	0.260000	0	0.220000	0.320000
NTNG2	84628	broad.mit.edu	37	9	135102349	135102349	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:135102349G>A	ENST00000393229.3	+	4	1747	c.971G>A	c.(970-972)cGc>cAc	p.R324H	NTNG2_ENST00000372179.3_Missense_Mutation_p.R324H|NTNG2_ENST00000393228.4_Missense_Mutation_p.R324H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R324H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2			29					AAGAATTTCCGCACCCGGTCC	0.677000																								0							SO:0001583	missense			ENST00000393229.3	0	1	hg19	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910498	0.52439	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.75	4.75	0.60458	EGF-like, laminin (3);	0.249770	0.32852	N	0.005578	T	0.25975	0.0633	N	0.01473	-0.845	0.42692	D	0.99358	P	0.50066	0.931	B	0.36608	0.229	T	0.34329	-0.9833	10	0.10636	T	0.68	.	16.7144	0.85394	0.0:0.0:1.0:0.0	.	324	Q96CW9	NTNG2_HUMAN	H	324	ENSP00000376921:R324H;ENSP00000376920:R324H;ENSP00000353888:R324H;ENSP00000361252:R324H	ENSP00000353888:R324H	R	+	2	0	NTNG2	134092170	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.158000	0.77470	2.184000	0.69523	0.313000	0.20887	CGC		TCGA-HZ-A9TJ-01A-11D-A40W-08	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	1	15	93	0	18	0	0	0	1	0	18	2		0	0	0	0	0	2	1	9.998537e-01	14	87	0	18	2								-19.999960	1	1	121348	7	37	1	0	3	3	1.826005	1	0.520000	3.450000	0.619048	0.680000	4.000000e-01	1.000000	1.000000	0.697501	0.680000	0	0.530000	0.860000
KIAA1210	57481	broad.mit.edu	37	X	118284525	118284525	+	Silent	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:118284525C>A	ENST00000402510.2	-	1	17	c.18G>T	c.(16-18)acG>acT	p.T6T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	p.T6T(1)		64					AGCCTCGAGGCGTCCAGCCGG	0.652000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000402510.2	1	1	hg19	CCDS48156.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	1	0	1	131	67	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	129	66	0	30	2								-20.000000	1	1	0	0		1	0	1	1			0.520000	3.450000	0.520000	0.980000	9.400000e-01	1.000000	0.990000	0.988033	0.980000	1	0.970000	1.000000
L1CAM	3897	broad.mit.edu	37	X	153138054	153138054	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:153138054C>G	ENST00000370060.1	-	4	379	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule			81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				CACTGCACTTCGGGCTTGCCA	0.602000																								0							SO:0001583	missense			ENST00000370060.1	1	1	hg19	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329577	0.24167	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	4.69	1.83	0.25207	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182154	0.37095	N	0.002256	T	0.11196	0.0273	N	0.21240	0.645	0.09310	N	1	B;B;B	0.18741	0.03;0.008;0.01	B;B;B	0.30179	0.112;0.046;0.076	T	0.26849	-1.0091	10	0.35671	T	0.21	.	13.9763	0.64275	0.0:0.3682:0.6318:0.0	.	59;64;64	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	Q	64;66;64;66;59;59;64;64;59;59;64	ENSP00000359077:E64Q;ENSP00000438430:E66Q;ENSP00000359074:E64Q;ENSP00000439645:E66Q;ENSP00000354712:E59Q;ENSP00000359072:E59Q;ENSP00000355380:E64Q;ENSP00000402407:E64Q;ENSP00000384902:E59Q;ENSP00000392524:E59Q;ENSP00000396079:E64Q	ENSP00000355380:E64Q	E	-	1	0	L1CAM	152791248	0.001000	0.12720	0.195000	0.23364	0.913000	0.54294	-0.399000	0.07250	0.066000	0.16515	0.529000	0.55759	GAA		TCGA-HZ-A9TJ-01A-11D-A40W-08	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	1	0	1	64	146	0	24	0	2.255235e-01	1	2	0	24	2	1	1	267	493	0	528	2	1	1	64	145	0	23	2								-6.848788	1	1	0	0		1	0	1	1			0.520000	3.450000	0.520000	0.580000	4.600000e-01	0.700000	0.580000	0.587045	0.580000	0	0.520000	0.650000
PCDH11X	27328	broad.mit.edu	37	X	91132649	91132649	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:91132649C>T	ENST00000373094.1	+	2	2255	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000504220.2_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked			159					CCCAGTCTTTCGTAACTGTTT	0.433000													NSCLC(38;925 1092 2571 38200 45895)											0							SO:0001819	synonymous_variant			ENST00000373094.1	1	1	hg19	CCDS14461.1																																																																																				TCGA-HZ-A9TJ-01A-11D-A40W-08	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	0	0	0	146	78	1	42		0	0	0	1	42	2		0	0	0	0	0	2	1	1	129	71	1	55	13								-20.000000	1	1	121410	3	34	1	0	1	1			0.520000	3.450000	0.520000	0.980000	9.400000e-01	1.000000	0.990000	0.988797	0.980000	1	0.970000	1.000000
