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
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)cgafs	p.R342fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557000		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	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	GRCh37	CM004908	TP53	M		SO:0001589	frameshift_variant	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																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	50	111	0	33	1	9.967110e-01	5	18	0	33	2	1	1	264	699	0	1151	2	1	0.999968	54	111	2	32	22	0	0	0	0	0	0		-5.939592	1	1	0	0		1	0	1	1	1.490383	1	0.640000	1.940000	0.473068	0.650000	0.510000	0.810000	0.660000	0.663410	0.650000	0	0.580000	0.740000
WDR11	55717	broad.mit.edu	37	10	122626196	122626196	+	Silent	SNP	A	A	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr10:122626196A>T	ENST00000263461.6	+	8	1356	c.1110A>T	c.(1108-1110)gcA>gcT	p.A370A		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11			38					ATGAGAATGCAGCCGCCCTCG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000263461.6	1	1	hg19	CCDS7619.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2	1	0	1	168	306	0	69	1	8.827383e-01	2	7	0	69	2		0	0	0	0	0	2	1	1.000000	166	305	0	69	2		0	0	0	0	69	2	-20.000000	1	1	0	0		1	0	1	1	1.818128	1	0.640000	1.940000	0.584104	0.950000	0.830000	1.000000	1.000000	0.950199	0.950000	1	0.890000	1.000000
USP28	57646	broad.mit.edu	37	11	113675589	113675589	+	Splice_Site	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:113675589C>T	ENST00000003302.4	-	20	2648		c.e20+1		USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000544967.1_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28			59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			TCTCTTCTCACCTTTCATCAT	0.428000													Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0							SO:0001630	splice_region_variant			ENST00000003302.4	1	1	hg19	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688412	0.88639	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113180799	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.461000	0.80834	2.817000	0.96982	0.563000	0.77884	.		TCGA-HV-A5A6-01A-11D-A26I-08	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1	1	0	1	97	269	0	25	0	0	1	0	0	25	2		0	0	0	0	0	2	1	1.000000	96	268	0	25	2		0	0	0	0	25	2	-6.010339	1	1	0	0		1	0	0	0	2.040351	0	0.640000	1.940000	0.640000	0.820000	0.680000	0.970000	0.820000	0.830610	0.820000	0	0.750000	0.900000
PTPN5	84867	broad.mit.edu	37	11	18763931	18763931	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:18763931G>A	ENST00000358540.2	-	7	1033	c.603C>T	c.(601-603)atC>atT	p.I201I	PTPN5_ENST00000396170.1_Silent_p.I169I|PTPN5_ENST00000396167.2_Silent_p.I169I|PTPN5_ENST00000477854.1_Silent_p.I5I|PTPN5_ENST00000396171.4_Silent_p.I201I|PTPN5_ENST00000396168.1_Silent_p.I177I|PTPN5_ENST00000496201.2_5'UTR|RP11-1081L13.4_ENST00000527285.1_RNA	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)			27					AGTCATCCTCGATCTTCTCCT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000358540.2	1	1	hg19	CCDS7845.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	1	0	1	52	263	0	48	0	0	0	1	0	48	2		0	0	0	0	0	2	1	1.000000	52	258	0	48	2		0	0	0	0	48	2	-20.000000	1	1	121412	23	43	1	1	2	3	2.108160	0	0.640000	1.940000	0.646782	0.520000	0.400000	1.000000	0.530000	0.553587	0.520000	0	0.460000	0.610000
AHNAK	79026	broad.mit.edu	37	11	62299013	62299013	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:62299013T>G	ENST00000378024.4	-	5	3150	c.2876A>C	c.(2875-2877)aAa>aCa	p.K959T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			TCCCTTTACTTTAGGACCTTT	0.483000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	9.875	1.200010	0.22121	.	.	ENSG00000124942	ENST00000378024	T	0.01665	4.7	4.8	3.66	0.41972	.	0.240370	0.41823	D	0.000807	T	0.09069	0.0224	H	0.95402	3.665	0.26966	N	0.965691	P	0.50528	0.936	P	0.51415	0.669	T	0.16247	-1.0409	10	0.30078	T	0.28	-2.0869	10.1142	0.42581	0.0:0.0808:0.0:0.9192	.	959	Q09666	AHNK_HUMAN	T	959	ENSP00000367263:K959T	ENSP00000367263:K959T	K	-	2	0	AHNAK	62055589	0.273000	0.24181	0.993000	0.49108	0.053000	0.15095	1.372000	0.34261	0.683000	0.31428	0.374000	0.22700	AAA		TCGA-HV-A5A6-01A-11D-A26I-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	0	0	26	1018	0	130	0	6.529177e-03	0	5	0	130	2		0	0	0	0	0	2	1	1.000000	26	1008	0	130	2		0	0	0	0	130	2	-18.755220	1	1	0	0		1	1	2	3	2.048049	0	0.640000	1.940000	0.641148	0.070000	0.040000	0.120000	0.080000	0.080867	0.070000	0	0.050000	0.100000
SF1	7536	broad.mit.edu	37	11	64533556	64533556	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:64533556C>T	ENST00000377390.3	-	13	1991	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	SF1_ENST00000227503.9_Intron|SF1_ENST00000334944.5_Missense_Mutation_p.A552T|SF1_ENST00000377387.1_Intron|SF1_ENST00000433274.2_Missense_Mutation_p.A526T|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000422298.2_Intron|SF1_ENST00000377394.3_Intron	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1			31					GGAGAAGCTGCGGCAGCCGCC	0.682000																								0							SO:0001583	missense			ENST00000377390.3	1	1	hg19	CCDS31599.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.767095|1.767095	0.31320|0.31320	.|.	.|.	ENSG00000168066|ENSG00000168066	ENST00000377390;ENST00000334944;ENST00000433274|ENST00000486867	T;T;T|T	0.48836|0.54675	0.8;0.92;0.81|0.56	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|.	.|.	.|.	.|.	T|T	0.47637|0.47637	0.1456|0.1456	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	B;B|.	0.31611|.	0.223;0.331|.	B;B|.	0.25614|.	0.028;0.062|.	T|T	0.56092|0.56092	-0.8036|-0.8036	9|7	0.87932|0.87932	D|D	0|0	.|.	16.4457|16.4457	0.83928|0.83928	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	552;552|.	Q15637;Q15637-2|.	SF01_HUMAN;.|.	T|H	552;552;526|271	ENSP00000366607:A552T;ENSP00000334414:A552T;ENSP00000396793:A526T|ENSP00000419062:R271H	ENSP00000334414:A552T|ENSP00000419062:R271H	A|R	-|-	1|2	0|0	SF1|SF1	64290132|64290132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.087000|4.087000	0.57671|0.57671	2.488000|2.488000	0.83962|0.83962	0.561000|0.561000	0.74099|0.74099	GCA|CGC		TCGA-HV-A5A6-01A-11D-A26I-08	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	1	0	0	76	165	0	65	1	9.999976e-01	16	30	0	65	2		0	0	0	0	0	2	1	1.000000	76	163	0	64	2		0	0	0	0	65	2	-8.089916	1	1	120562	1	31	1	0	0	0	2.040351	0	0.640000	1.940000	0.640000	0.980000	0.800000	1.000000	1.000000	0.956381	0.980000	1	0.880000	1.000000
ATG2A	23130	broad.mit.edu	37	11	64678283	64678283	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:64678283G>A	ENST00000377264.3	-	11	1722	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	ATG2A_ENST00000421419.2_Missense_Mutation_p.T537M	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A			55					CCTCACCTCCGTGTACTCAGG	0.677000																								0							SO:0001583	missense			ENST00000377264.3	0	1	hg19	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522125	0.64747	2.27E-4	0.0	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.08984	3.03;3.03	5.11	5.11	0.69529	.	0.190202	0.41097	D	0.000944	T	0.09774	0.0240	L	0.50333	1.59	0.34319	D	0.68634	P	0.48350	0.909	B	0.38327	0.271	T	0.14643	-1.0465	10	0.66056	D	0.02	.	14.4207	0.67180	0.0:0.0:1.0:0.0	.	537	Q2TAZ0	ATG2A_HUMAN	M	537	ENSP00000410522:T537M;ENSP00000366475:T537M	ENSP00000366475:T537M	T	-	2	0	ATG2A	64434859	0.993000	0.37304	0.964000	0.40570	0.697000	0.40408	2.162000	0.42367	2.550000	0.86006	0.462000	0.41574	ACG		TCGA-HV-A5A6-01A-11D-A26I-08	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	0	0	0	4	72	0	12	0	1.174952e-01	0	9	0	12	2		0	0	0	0	0	2	1	0.889105	4	71	0	11	2		0	0	0	0	12	2	-7.958007	1	1	0	0		1	0	0	0	2.040351	0	0.640000	1.940000	0.640000	0.180000	0.060000	0.380000	0.160000	0.198841	0.180000	0	0.100000	0.280000
ADRBK1	156	broad.mit.edu	37	11	67048254	67048254	+	Splice_Site	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:67048254C>T	ENST00000308595.5	+	7	845	c.555C>T	c.(553-555)caC>caT	p.H185H	ADRBK1_ENST00000526285.1_Splice_Site_p.H185H	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1			22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)	Adenosine triphosphate(DB00171)	TCAACATCCACGTGAGTGGGC	0.597000																								0							SO:0001630	splice_region_variant			ENST00000308595.5	1	0	hg19	CCDS8156.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	1	0	1	316	707	0	234	1	1	38	79	0	234	2		0	0	0	0	0	2	1	1.000000	315	699	0	233	2		0	0	0	0	234	2	-20.000000	1	1	121412	2	41	1	0	0	0	2.040351	0	0.640000	1.940000	0.640000	0.950000	0.870000	1.000000	1.000000	0.959803	0.950000	1	0.910000	1.000000
IFT81	28981	broad.mit.edu	37	12	110655943	110655943	+	Missense_Mutation	SNP	G	G	A	rs150790899	by1000genomes	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:110655943G>A	ENST00000242591.5	+	19	2449	c.1943G>A	c.(1942-1944)tGt>tAt	p.C648Y	IFT81_ENST00000552912.1_Missense_Mutation_p.C648Y	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81			10					TTAATGGAATGTAAGAAACAG	0.388000																								0							SO:0001583	missense			ENST00000242591.5	1	1	hg19	CCDS41831.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	19.76	3.888341	0.72524	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.22	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	M	0.78916	2.43	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.80821	-0.1211	9	0.59425	D	0.04	-8.5873	14.297	0.66321	0.0724:0.0:0.9276:0.0	.	648	Q8WYA0	IFT81_HUMAN	Y	648;648;79	.	ENSP00000242591:C648Y	C	+	2	0	IFT81	109140326	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.301000	0.96167	1.338000	0.45544	0.579000	0.79373	TGT		TCGA-HV-A5A6-01A-11D-A26I-08	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	0	0	1	157	401	1	65	1	9.858339e-01	6	25	1	65	4		0	0	0	0	0	2	1	1.000000	154	399	1	64	26		0	0	0	1	65	2	-20.000000	1	1	120846	1	32	1	0	0	0	2.008545	0	0.640000	1.940000	0.635332	0.860000	0.750000	0.980000	0.870000	0.869178	0.860000	1	0.800000	0.930000
PIWIL1	9271	broad.mit.edu	37	12	130827607	130827607	+	Missense_Mutation	SNP	C	C	T	rs144603967	by1000genomes	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:130827607C>T	ENST00000245255.3	+	3	423	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1			57	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TGGCCGTGGACGGCAGAGAGG	0.443000																								0							SO:0001583	missense			ENST00000245255.3	1	1	hg19	CCDS9268.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	16.69	3.194066	0.58017	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93	5.13	5.13	0.70059	.	0.197782	0.43579	D	0.000552	T	0.36110	0.0955	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.12426	-1.0548	10	0.72032	D	0.01	-12.2295	17.5036	0.87738	0.0:1.0:0.0:0.0	.	51;51	Q96J94;Q96J94-2	PIWL1_HUMAN;.	W	51	ENSP00000245255:R51W;ENSP00000442086:R51W;ENSP00000440677:R51W;ENSP00000439096:R51W;ENSP00000444353:R51W;ENSP00000438582:R51W	ENSP00000245255:R51W	R	+	1	2	PIWIL1	129393560	1.000000	0.71417	0.836000	0.33094	0.417000	0.31264	3.696000	0.54757	2.544000	0.85801	0.467000	0.42956	CGG		TCGA-HV-A5A6-01A-11D-A26I-08	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1	1	0	1	64	131	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1.000000	63	129	0	19	2		0	0	0	0	19	2	-8.296194	1	1	121412	7	38	1	0	0	0	2.008545	0	0.640000	1.940000	0.635332	0.990000	0.810000	1.000000	1.000000	0.965990	0.990000	1	0.900000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HV-A5A6-01A-11D-A26I-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	33	57	0	12	1	9.926599e-01	10	7	0	12	2	1	1	140	334	0	453	2	1	1.000000	32	57	0	12	2	1	1	2831	5201	0	12	2	-20.000000	1	1	121404	2	44	1	0	0	0	2.008545	0	0.640000	1.940000	0.635332	0.990000	0.830000	1.000000	1.000000	0.984274	0.990000	1	0.970000	1.000000
VWF	7450	broad.mit.edu	37	12	6080794	6080794	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:6080794G>A	ENST00000261405.5	-	44	7773	c.7519C>T	c.(7519-7521)Cgg>Tgg	p.R2507W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor			129				Antihemophilic Factor(DB00025)	GAGTCCCCCCGCGGTGAGCCA	0.612000																								0							SO:0001583	missense			ENST00000261405.5	1	1	hg19	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968317	0.53614	.	.	ENSG00000110799	ENST00000261405	T	0.37752	1.18	4.79	1.9	0.25705	.	0.194975	0.25261	N	0.031943	T	0.30947	0.0781	M	0.64404	1.975	0.47994	D	0.999565	B	0.19073	0.033	B	0.12156	0.007	T	0.10965	-1.0607	10	0.62326	D	0.03	.	5.2466	0.15500	0.1761:0.0:0.6614:0.1625	.	2507	P04275	VWF_HUMAN	W	2507	ENSP00000261405:R2507W	ENSP00000261405:R2507W	R	-	1	2	VWF	5951055	0.487000	0.25988	0.082000	0.20525	0.026000	0.11368	0.507000	0.22675	0.204000	0.20548	0.561000	0.74099	CGG		TCGA-HV-A5A6-01A-11D-A26I-08	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	1	0	1	164	299	0	87	0	1	0	130	0	87	2		0	0	0	0	0	2	1	1.000000	161	290	0	87	2		0	0	0	0	87	2	-17.624700	1	1	121412	31	47	1	1	2	3	2.049774	0	0.640000	1.940000	0.641148	0.990000	0.970000	1.000000	1.000000	0.998464	0.990000	1	0.990000	1.000000
AHNAK2	113146	broad.mit.edu	37	14	105420573	105420573	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr14:105420573G>A	ENST00000333244.5	-	7	1334	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		GGGTTCCCTCGCAAAGTCTAG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000333244.5	1	1	hg19	CCDS45177.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	1	0	1	52	275	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	1.000000	52	270	0	76	2		0	0	0	0	76	2	-3.142702	1	1	121028	21	46	1	0	1	1	1.747417	1	0.640000	1.940000	0.569790	0.410000	0.310000	0.520000	0.420000	0.420292	0.410000	0	0.360000	0.470000
EXOC5	10640	broad.mit.edu	37	14	57698417	57698417	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr14:57698417T>A	ENST00000413566.2	-	11	1314	c.955A>T	c.(955-957)Agc>Tgc	p.S319C	EXOC5_ENST00000340918.7_Missense_Mutation_p.S254C	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5			22					ATCAGCTTGCTGGAAAGATTG	0.303000																								0							SO:0001583	missense			ENST00000413566.2	1	1	hg19	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.195041	0.78902	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.47177	0.85;0.85	5.62	5.62	0.85841	.	0.079098	0.85682	D	0.000000	T	0.49983	0.1589	L	0.34521	1.04	0.54753	D	0.999987	P;P	0.51791	0.948;0.927	P;P	0.51582	0.545;0.674	T	0.52434	-0.8576	10	0.62326	D	0.03	-7.6021	16.1251	0.81386	0.0:0.0:0.0:1.0	.	254;319	F8W9B8;O00471	.;EXOC5_HUMAN	C	319;254	ENSP00000389934:S319C;ENSP00000342100:S254C	ENSP00000342100:S254C	S	-	1	0	EXOC5	56768170	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.411000	0.66386	2.267000	0.75376	0.477000	0.44152	AGC		TCGA-HV-A5A6-01A-11D-A26I-08	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	1	0	1	73	140	0	31	1	9.494723e-01	3	9	0	31	2		0	0	0	0	0	2	1	1.000000	72	140	0	31	2		0	0	0	0	31	2	-20.000000	1	1	0	0		1	0	1	1	1.795831	1	0.640000	1.940000	0.581006	0.910000	0.740000	1.000000	1.000000	0.912202	0.910000	1	0.820000	1.000000
PGPEP1L	145814	broad.mit.edu	37	15	99512680	99512680	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr15:99512680G>A	ENST00000378919.6	-	4	550	c.345C>T	c.(343-345)gaC>gaT	p.D115D	PGPEP1L_ENST00000535714.1_Silent_p.D61D|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like			14					AAAAGATCACGTCGACACCCT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000378919.6	1	1	hg19	CCDS53977.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	1	0	1	82	447	0	146		0	0	0	0	146	2		0	0	0	0	0	2	1	1.000000	82	442	0	146	2		0	0	0	0	146	2	-20.000000	1	1	0	0		1	0	1	1	1.798880	1	0.640000	1.940000	0.579439	0.410000	0.330000	0.500000	0.410000	0.417553	0.410000	0	0.360000	0.460000
MEFV	4210	broad.mit.edu	37	16	3293394	3293394	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:3293394T>C	ENST00000219596.1	-	10	2132	c.2093A>G	c.(2092-2094)gAg>gGg	p.E698G	MEFV_ENST00000339854.4_Missense_Mutation_p.E518G|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.E487G	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever			50					CGCCTGGTACTCATTTTCCTT	0.532000																								0							SO:0001583	missense			ENST00000219596.1	1	1	hg19	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217269	0.39201	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.61040	0.14;0.14;0.14	5.32	4.23	0.50019	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.135230	0.33691	N	0.004653	T	0.62332	0.2419	L	0.35542	1.07	0.09310	N	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.52616	-0.8552	10	0.41790	T	0.15	-17.3674	9.3257	0.37990	0.0:0.0855:0.0:0.9145	.	698	O15553	MEFV_HUMAN	G	698;518;487	ENSP00000219596:E698G;ENSP00000339639:E518G;ENSP00000445079:E487G	ENSP00000219596:E698G	E	-	2	0	MEFV	3233395	0.118000	0.22208	0.061000	0.19648	0.659000	0.38960	2.161000	0.42358	0.979000	0.38497	0.528000	0.53228	GAG		TCGA-HV-A5A6-01A-11D-A26I-08	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	1	0	1	198	428	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1.000000	195	423	0	86	2		0	0	0	0	86	2	-20.000000	1	1	0	0		1	1	2	3	2.081051	0	0.640000	1.940000	0.644550	0.990000	0.880000	1.000000	1.000000	0.978051	0.990000	1	0.930000	1.000000
SLC6A2	6530	broad.mit.edu	37	16	55733527	55733527	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:55733527G>T	ENST00000379906.2	+	11	1806	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	SLC6A2_ENST00000567238.1_Missense_Mutation_p.W412C|SLC6A2_ENST00000414754.3_Missense_Mutation_p.W517C|SLC6A2_ENST00000219833.8_Missense_Mutation_p.W517C|SLC6A2_ENST00000568943.1_Missense_Mutation_p.W517C|SLC6A2_ENST00000561820.1_Missense_Mutation_p.W517C|SLC6A2_ENST00000566163.1_Missense_Mutation_p.W472C	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2			41				Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTCTATACTGGAGACTGTGCT	0.592000																								0							SO:0001583	missense			ENST00000379906.2	1	1	hg19	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415365	0.83449	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.79033	-1.23;-1.23;-1.23	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.998	D	0.94353	0.7581	10	0.87932	D	0	.	18.2862	0.90114	0.0:0.0:1.0:0.0	.	517;231;412;517	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	C	517;231;517;517	ENSP00000394956:W517C;ENSP00000369237:W517C;ENSP00000219833:W517C	ENSP00000219833:W517C	W	+	3	0	SLC6A2	54291028	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.315000	0.96313	2.596000	0.87737	0.650000	0.86243	TGG		TCGA-HV-A5A6-01A-11D-A26I-08	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2	1	0	1	39	201	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1.000000	36	200	0	43	2		0	0	0	0	43	2	-20.000000	1	1	0	0		1	1	2	3	2.092122	0	0.640000	1.940000	0.644550	0.510000	0.370000	1.000000	0.510000	0.535703	0.510000	0	0.440000	0.610000
IL34	146433	broad.mit.edu	37	16	70688501	70688501	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:70688501C>T	ENST00000288098.2	+	2	472	c.89C>T	c.(88-90)aCg>aTg	p.T30M	IL34_ENST00000569641.1_Intron|IL34_ENST00000429149.2_Missense_Mutation_p.T30M|IL34_ENST00000566361.1_Missense_Mutation_p.T5M	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34			17					TGGCCCTTGACGCAGAATGAG	0.572000											OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000288098.2	1	1	hg19	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509704	0.27036	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.49432	0.78;0.78	4.32	3.32	0.38043	.	0.568429	0.15866	N	0.240758	T	0.61515	0.2353	M	0.70595	2.14	0.09310	N	1	D;D	0.89917	1.0;1.0	P;P	0.60886	0.88;0.88	T	0.51434	-0.8706	10	0.66056	D	0.02	-11.2702	10.7643	0.46283	0.1886:0.8114:0.0:0.0	.	30;30	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	M	30	ENSP00000397863:T30M;ENSP00000288098:T30M	ENSP00000288098:T30M	T	+	2	0	IL34	69246002	0.002000	0.14202	0.051000	0.19133	0.015000	0.08874	1.190000	0.32126	2.258000	0.74832	0.456000	0.33151	ACG		TCGA-HV-A5A6-01A-11D-A26I-08	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	1	0	1	44	385	0	94	0	4.345854e-01	0	14	0	94	2		0	0	0	0	0	2	1	1.000000	45	382	0	93	2		0	0	0	0	94	2	-15.244260	1	1	121410	1	35	1	1	2	3	2.120359	0	0.640000	1.940000	0.647887	0.320000	0.240000	1.000000	0.330000	0.370339	0.320000	0	0.280000	0.390000
ZNF821	55565	broad.mit.edu	37	16	71913839	71913839	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:71913839C>T	ENST00000565601.1	-	2	418	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	ZNF821_ENST00000446827.2_Missense_Mutation_p.R4Q|ZNF821_ENST00000564134.1_Missense_Mutation_p.R4Q|ZNF821_ENST00000425432.1_Missense_Mutation_p.R4Q|ZNF821_ENST00000313565.6_Missense_Mutation_p.R4Q|RP11-498D10.3_ENST00000561979.1_RNA|ZNF821_ENST00000564943.1_5'UTR|ATXN1L_ENST00000569119.1_Intron	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	p.R4L(1)		13					TGTCTGTTTCCGACGGGACAT	0.438000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000565601.1	1	1	hg19	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924263	0.73213	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01505	6.15;4.82;4.82	5.75	5.75	0.90469	.	0.197314	0.41605	D	0.000844	T	0.04861	0.0131	N	0.19112	0.55	0.52501	D	0.999955	D;D	0.64830	0.994;0.99	P;D	0.66847	0.885;0.947	T	0.57963	-0.7720	10	0.51188	T	0.08	-12.0468	16.6641	0.85248	0.0:1.0:0.0:0.0	.	4;4	B4DKK4;O75541-2	.;.	Q	4	ENSP00000398089:R4Q;ENSP00000313822:R4Q;ENSP00000405908:R4Q	ENSP00000313822:R4Q	R	-	2	0	ZNF821	70471340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.962000	0.56766	2.696000	0.92011	0.655000	0.94253	CGG		TCGA-HV-A5A6-01A-11D-A26I-08	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	1	0	1	204	1157	0	165	0	4.008999e-01	0	9	0	165	2		0	0	0	0	0	2	1	1.000000	203	1152	0	164	2		0	0	0	0	165	2	-20.000000	1	1	0	0		1	1	2	3	2.120359	0	0.640000	1.940000	0.647887	0.470000	0.410000	1.000000	0.480000	0.509320	0.470000	0	0.440000	0.520000
HP	3240	broad.mit.edu	37	16	72094379	72094379	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:72094379G>A	ENST00000355906.5	+	7	869	c.811G>A	c.(811-813)Gat>Aat	p.D271N	HPR_ENST00000540303.2_5'Flank|HP_ENST00000357763.4_Missense_Mutation_p.D307N|HP_ENST00000562526.1_Intron|HP_ENST00000565574.1_Missense_Mutation_p.D212N|HP_ENST00000570083.1_Missense_Mutation_p.D212N|HPR_ENST00000561690.1_5'Flank|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Missense_Mutation_p.D212N	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin			7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)			ACCTTCAAAGGATTATGCAGA	0.458000																								0							SO:0001583	missense			ENST00000355906.5	0	1	hg19	CCDS45524.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	12.22	1.872195	0.33069	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.88741	-2.42;-2.42	5.12	3.18	0.36537	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.058620	0.64402	N	0.000005	D	0.82577	0.5067	L	0.33245	0.995	0.80722	D	1	B;B;B;B	0.26120	0.006;0.142;0.035;0.013	B;B;B;B	0.28784	0.02;0.094;0.053;0.065	T	0.77765	-0.2465	10	0.49607	T	0.09	.	10.5318	0.44981	0.1575:0.0:0.8425:0.0	.	93;146;212;271	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	N	271;212;146;247	ENSP00000348170:D271N;ENSP00000381199:D212N	ENSP00000348170:D271N	D	+	1	0	HP	70651880	1.000000	0.71417	0.313000	0.25210	0.827000	0.46813	3.043000	0.49823	0.768000	0.33290	-0.124000	0.14976	GAT		TCGA-HV-A5A6-01A-11D-A26I-08	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	0	0	0	24	282	1	50	0	2.547856e-01	0	12	1	50	2		0	0	0	0	0	2	1	0.772769	24	280	1	48	20		0	0	0	1	50	2	-2.920855	1	1	120896	10	39	1	1	2	3	2.120359	0	0.640000	1.940000	0.647887	0.250000	0.160000	1.000000	0.250000	0.300196	0.250000	0	0.200000	0.320000
EMR3	84658	broad.mit.edu	37	19	14749135	14749135	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:14749135G>A	ENST00000253673.5	-	11	1366	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	EMR3_ENST00000344373.4_Silent_p.I370I|EMR3_ENST00000443157.2_Silent_p.I296I|EMR3_ENST00000599900.1_Silent_p.I207I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3			50					AAGCACCGGCGATGATGGAGC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000253673.5	1	1	hg19	CCDS12315.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	0	0	1	29	165	0	34	0	2.408578e-02	0	2	0	34	2		0	0	0	0	0	2	1	1.000000	29	165	0	34	2		0	0	0	0	34	2	-20.000000	1	1	121412	1	27	1	0	1	1	1.787483	1	0.640000	1.940000	0.579439	0.390000	0.270000	0.540000	0.400000	0.407915	0.390000	0	0.330000	0.470000
RYR1	6261	broad.mit.edu	37	19	38939147	38939147	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:38939147C>T	ENST00000359596.3	+	10	953	c.953C>T	c.(952-954)tCc>tTc	p.S318F	RYR1_ENST00000360985.3_Missense_Mutation_p.S318F|RYR1_ENST00000355481.4_Missense_Mutation_p.S318F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTCCGCATCTCCAAGGTCAGT	0.642000																								0							SO:0001583	missense			ENST00000359596.3	0	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080776	0.55753	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.85955	-2.05;-2.05;-2.05	4.51	4.51	0.55191	MIR motif (2);MIR (2);	0.090463	0.46145	U	0.000315	D	0.92315	0.7562	M	0.79926	2.475	0.43863	D	0.996461	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93476	0.6823	10	0.87932	D	0	.	16.1498	0.81605	0.0:1.0:0.0:0.0	.	318;318	P21817-2;P21817	.;RYR1_HUMAN	F	318	ENSP00000352608:S318F;ENSP00000347667:S318F;ENSP00000354254:S318F	ENSP00000347667:S318F	S	+	2	0	RYR1	43630987	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.239000	0.78182	2.348000	0.79779	0.491000	0.48974	TCC		TCGA-HV-A5A6-01A-11D-A26I-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0	0	0	13	715	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	0.999512	13	710	0	104	2		0	0	0	0	105	2	-2.849770	1	1	0	0		1	1	2	3	2.282149	1	0.640000	1.940000	0.682652	0.070000	0.020000	1.000000	0.070000	0.287849	0.070000	0	0.040000	1.000000
SYT3	84258	broad.mit.edu	37	19	51133050	51133050	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:51133050A>T	ENST00000338916.4	-	3	1686	c.1053T>A	c.(1051-1053)ttT>ttA	p.F351L	SYT3_ENST00000593901.1_Missense_Mutation_p.F351L|SYT3_ENST00000600079.1_Missense_Mutation_p.F351L|SYT3_ENST00000544769.1_Missense_Mutation_p.F351L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III			35		all_neural(266;0.131)			CCTTGGTCTGAAACTTTTTCT	0.632000																								0							SO:0001583	missense			ENST00000338916.4	1	1	hg19	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471928	0.26423	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.68624	-0.34;-0.34	4.67	-4.51	0.03483	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.083116	0.47455	U	0.000232	T	0.44307	0.1287	N	0.12961	0.28	0.50039	D	0.999842	B	0.25955	0.138	B	0.18561	0.022	T	0.03157	-1.1066	10	0.29301	T	0.29	.	17.5164	0.87775	0.183:0.0:0.817:0.0	.	351	Q9BQG1	SYT3_HUMAN	L	351	ENSP00000340914:F351L;ENSP00000438883:F351L	ENSP00000340914:F351L	F	-	3	2	SYT3	55824862	0.967000	0.33354	0.971000	0.41717	0.461000	0.32589	0.042000	0.13949	-0.918000	0.03808	-0.250000	0.11733	TTT		TCGA-HV-A5A6-01A-11D-A26I-08	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	1	0	0	156	217	0	54	0	1.749958e-01	0	2	0	54	2		0	0	0	0	0	2	1	1.000000	154	215	0	54	2		0	0	0	0	54	2	-20.000000	1	1	0	0		1	1	2	3	2.478776	1	0.640000	1.940000	0.696356	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ZNF784	147808	broad.mit.edu	37	19	56135868	56135868	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:56135868G>A	ENST00000325351.4	-	1	99	c.60C>T	c.(58-60)tcC>tcT	p.S20S	ZNF784_ENST00000591479.1_Silent_p.S20S	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784			1			BRCA - Breast invasive adenocarcinoma(297;0.18)		GTGGCTCCTGGGATCGCGACT	0.716000																								0							SO:0001819	synonymous_variant			ENST00000325351.4	1	1	hg19	CCDS12930.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2	1	0	0	9	48	0	15	0	2.661550e-01	1	5	0	15	2		0	0	0	0	0	2	1	0.994662	8	47	0	15	2		0	0	0	0	15	2	-17.312020	1	1	0	0		1	1	2	3	2.493615	1	0.640000	1.940000	0.699599	0.680000	0.320000	1.000000	1.000000	0.712254	0.680000	0	0.470000	1.000000
MYO1F	4542	broad.mit.edu	37	19	8609328	8609328	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:8609328G>A	ENST00000338257.8	-	14	1644	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF			42					CGTCCAAGACGCTCATGATGC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000338257.8	1	1	hg19	CCDS42494.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2	1	0	0	24	112	0	24	0	5.574143e-01	0	10	0	24	2		0	0	0	0	0	2	1	1.000000	24	110	0	24	2		0	0	0	0	24	2	-20.000000	1	1	0	0		1	0	1	1	1.787483	1	0.640000	1.940000	0.579439	0.470000	0.310000	0.650000	0.470000	0.482034	0.470000	0	0.380000	0.570000
CEPT1	10390	broad.mit.edu	37	1	111702113	111702113	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:111702113G>T	ENST00000545121.1	+	3	659	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	CEPT1_ENST00000357172.4_Nonsense_Mutation_p.E151*	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1			8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Choline(DB00122)	TCCTCTGGGAGAACTTTTTGA	0.378000																								0							SO:0001587	stop_gained			ENST00000545121.1	0	1	hg19	CCDS830.1	.	.	.	.	.	.	.	.	.	.	G	37	6.135643	0.97315	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-41.1206	16.8534	0.86000	0.0:0.0:1.0:0.0	.	.	.	.	X	151	.	ENSP00000349696:E151X	E	+	1	0	CEPT1	111503636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.568000	0.86640	0.655000	0.94253	GAA		TCGA-HV-A5A6-01A-11D-A26I-08	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	1	0	1	148	372	0	27	1	9.842258e-01	2	17	0	27	2		0	0	0	0	0	2	1	1.000000	148	370	0	27	2		0	0	0	0	27	2	-20.000000	1	1	0	0		1	1	2	3	2.140631	0	0.640000	1.940000	0.648986	0.910000	0.780000	1.000000	1.000000	0.916826	0.910000	1	0.840000	1.000000
CAPZA1	829	broad.mit.edu	37	1	113162484	113162484	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:113162484T>A	ENST00000263168.3	+	1	690	c.18T>A	c.(16-18)gaT>gaA	p.D6E	ST7L_ENST00000358039.4_5'Flank|ST7L_ENST00000360743.4_5'Flank|ST7L_ENST00000369666.1_5'Flank|ST7L_ENST00000369669.1_5'Flank|CAPZA1_ENST00000476936.1_3'UTR|ST7L_ENST00000538187.1_5'Flank|ST7L_ENST00000343210.7_5'Flank|ST7L_ENST00000369668.2_5'Flank|ST7L_ENST00000544629.1_5'Flank|ST7L_ENST00000463235.1_Intron|ST7L_ENST00000543570.1_5'Flank|ST7L_ENST00000490067.1_5'Flank	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1			9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)			ACTTCGATGATCGTGTGTCGG	0.672000																								0							SO:0001583	missense			ENST00000263168.3	0	1	hg19	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.753284	0.31046	.	.	ENSG00000116489	ENST00000263168	.	.	.	6.17	6.17	0.99709	.	0.161441	0.53938	D	0.000048	T	0.19565	0.0470	N	0.02765	-0.5	0.80722	D	1	P	0.37176	0.586	P	0.47744	0.556	T	0.31779	-0.9931	9	0.02654	T	1	-1.0931	14.3455	0.66658	0.0:0.0:0.0:1.0	.	6	P52907	CAZA1_HUMAN	E	6	.	ENSP00000263168:D6E	D	+	3	2	CAPZA1	112964007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.547000	0.36190	2.371000	0.80710	0.533000	0.62120	GAT		TCGA-HV-A5A6-01A-11D-A26I-08	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	1	0	1	13	88	0	16	1	9.983661e-01	24	55	0	16	2		0	0	0	0	0	2	1	0.999655	13	88	0	16	2		0	0	0	0	16	2	-19.981850	1	1	0	0		1	1	2	3	2.140631	0	0.640000	1.940000	0.648986	0.430000	0.240000	1.000000	0.410000	0.469779	0.430000	0	0.320000	0.570000
CAPZA1	829	broad.mit.edu	37	1	113162485	113162485	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:113162485C>T	ENST00000263168.3	+	1	691	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	ST7L_ENST00000358039.4_5'Flank|ST7L_ENST00000360743.4_5'Flank|ST7L_ENST00000369666.1_5'Flank|ST7L_ENST00000369669.1_5'Flank|CAPZA1_ENST00000476936.1_3'UTR|ST7L_ENST00000538187.1_5'Flank|ST7L_ENST00000343210.7_5'Flank|ST7L_ENST00000369668.2_5'Flank|ST7L_ENST00000544629.1_5'Flank|ST7L_ENST00000463235.1_Intron|ST7L_ENST00000543570.1_5'Flank|ST7L_ENST00000490067.1_5'Flank	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1			9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)			CTTCGATGATCGTGTGTCGGA	0.667000																								0							SO:0001583	missense			ENST00000263168.3	0	1	hg19	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310470	0.81358	.	.	ENSG00000116489	ENST00000263168	.	.	.	6.17	6.17	0.99709	.	0.195980	0.45361	D	0.000364	T	0.56171	0.1967	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.59968	-0.7354	9	0.56958	D	0.05	-3.1307	17.7962	0.88572	0.0:1.0:0.0:0.0	.	7	P52907	CAZA1_HUMAN	C	7	.	ENSP00000263168:R7C	R	+	1	0	CAPZA1	112964008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.595000	0.61048	2.941000	0.99782	0.655000	0.94253	CGT		TCGA-HV-A5A6-01A-11D-A26I-08	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	1	0	1	13	87	0	16	1	9.985749e-01	24	56	0	16	2		0	0	0	0	0	2	1	0.999657	13	87	0	16	2		0	0	0	0	16	2	-19.972810	1	1	0	0		1	1	2	3	2.140631	0	0.640000	1.940000	0.648986	0.430000	0.240000	1.000000	0.410000	0.473732	0.430000	0	0.320000	0.580000
TUFT1	7286	broad.mit.edu	37	1	151552137	151552137	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:151552137A>G	ENST00000368849.3	+	11	999	c.937A>G	c.(937-939)Aaa>Gaa	p.K313E	TUFT1_ENST00000353024.3_Missense_Mutation_p.K254E|TUFT1_ENST00000368848.2_Missense_Mutation_p.K288E|TUFT1_ENST00000538902.1_Missense_Mutation_p.K332E|TUFT1_ENST00000392712.3_Missense_Mutation_p.K258E	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1			13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)		CCAGAATTCAAAAGCTGTGAT	0.547000																								0							SO:0001583	missense			ENST00000368849.3	1	1	hg19	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553081	0.86127	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	6.02	6.02	0.97574	.	0.050570	0.85682	D	0.000000	T	0.74921	0.3780	M	0.71581	2.175	0.35617	D	0.809083	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.997;0.999;0.984	T	0.76710	-0.2859	10	0.37606	T	0.19	-22.6669	14.4941	0.67674	1.0:0.0:0.0:0.0	.	332;288;313	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	E	313;258;254;288;332	ENSP00000357842:K313E;ENSP00000376476:K258E;ENSP00000343781:K254E;ENSP00000357841:K288E;ENSP00000437997:K332E	ENSP00000343781:K254E	K	+	1	0	TUFT1	149818761	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.020000	0.70826	2.304000	0.77564	0.528000	0.53228	AAA		TCGA-HV-A5A6-01A-11D-A26I-08	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	1	0	1	19	98	0	21	1	9.705357e-01	9	24	0	21	2		0	0	0	0	0	2	1	0.999994	19	97	0	21	2		0	0	0	0	21	2	-20.000000	1	1	0	0		1	1	2	3	2.093433	0	0.640000	1.940000	0.644550	0.520000	0.330000	1.000000	0.510000	0.542988	0.520000	0	0.410000	0.650000
SPEN	23013	broad.mit.edu	37	1	16262018	16262018	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:16262018C>T	ENST00000375759.3	+	11	9487	c.9283C>T	c.(9283-9285)Cag>Tag	p.Q3095*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor			149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)			CCACCTCTCCCAGGGCGAGGT	0.617000																								0							SO:0001587	stop_gained			ENST00000375759.3	0	1	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	50	17.181384	0.99881	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-12.7426	19.0275	0.92939	0.0:1.0:0.0:0.0	.	.	.	.	X	3095	.	ENSP00000364912:Q3095X	Q	+	1	0	SPEN	16134605	0.998000	0.40836	0.977000	0.42913	0.846000	0.48090	3.935000	0.56560	2.494000	0.84150	0.491000	0.48974	CAG		TCGA-HV-A5A6-01A-11D-A26I-08	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	1	0	1	36	237	0	43	1	9.056351e-01	3	26	0	43	2		0	0	0	0	0	2	1	1.000000	36	236	0	43	2		0	0	0	0	43	2	-3.319644	1	1	0	0		1	1	2	3	2.135344	0	0.640000	1.940000	0.648986	0.420000	0.300000	1.000000	0.420000	0.467017	0.420000	0	0.360000	0.520000
NFASC	23114	broad.mit.edu	37	1	204957892	204957892	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:204957892G>A	ENST00000401399.1	+	22	2924	c.2725G>A	c.(2725-2727)Ggg>Agg	p.G909R	NFASC_ENST00000338586.6_Missense_Mutation_p.G1016R|NFASC_ENST00000338515.6_Missense_Mutation_p.G1016R|NFASC_ENST00000513543.1_Missense_Mutation_p.G1012R|NFASC_ENST00000367172.4_Missense_Mutation_p.G1016R|NFASC_ENST00000367170.4_Missense_Mutation_p.G1016R|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Missense_Mutation_p.G1001R|NFASC_ENST00000404076.1_Missense_Mutation_p.G995R|NFASC_ENST00000367169.4_Missense_Mutation_p.G909R|NFASC_ENST00000360049.4_Missense_Mutation_p.G1012R|NFASC_ENST00000404907.1_Missense_Mutation_p.G1012R|NFASC_ENST00000539706.1_Missense_Mutation_p.G1012R|NFASC_ENST00000339876.6_Missense_Mutation_p.G909R			O94856	NFASC_HUMAN	neurofascin			81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		GGTGGGCTCTGGGGAAGCCGT	0.592000																								0							SO:0001583	missense			ENST00000401399.1	0	1	hg19	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.612808|5.612808	0.96637|0.96637	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000413225	T;T;T;T;D;T;T;T;D;T;D;T;T;T|.	0.91996|.	-0.05;-0.05;-0.05;-0.05;-2.95;-0.05;-0.05;-0.05;-2.95;-0.05;-2.95;-0.05;-0.05;-0.05|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.49916|.	D|.	0.000140|.	D|.	0.86732|.	0.6003|.	M|M	0.92970|0.92970	3.365|3.365	0.38365|0.38365	D|D	0.944703|0.944703	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.995;1.0;0.998;1.0;1.0;0.999;0.999|.	D|.	0.90619|.	0.4558|.	10|.	0.87932|.	D|.	0|.	.|.	19.1402|19.1402	0.93444|0.93444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1016;1027;1012;1016;1016;909;1001;909;1012|.	O94856;O94856-11;O94856-8;O94856-7;F8W8X7;O94856-4;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.;.;.;.|.	R|X	1016;1001;1016;1016;909;1016;1027;1012;1012;909;995;909;1012;1012;1003|34	ENSP00000356140:G1016R;ENSP00000356139:G1001R;ENSP00000356138:G1016R;ENSP00000342128:G1016R;ENSP00000344786:G909R;ENSP00000343509:G1016R;ENSP00000438614:G1012R;ENSP00000353154:G1012R;ENSP00000356137:G909R;ENSP00000385676:G995R;ENSP00000385637:G909R;ENSP00000384061:G1012R;ENSP00000425908:G1012R;ENSP00000415031:G1003R|.	ENSP00000295776:G1027R|.	G|W	+|+	1|2	0|0	NFASC|NFASC	203224515|203224515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.413000|9.413000	0.97351|0.97351	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	GGG|TGG		TCGA-HV-A5A6-01A-11D-A26I-08	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	0	0	0	9	451	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	0.994200	9	449	0	77	2		0	0	0	0	77	2	-2.892106	1	1	0	0		1	1	2	3	2.093433	0	0.640000	1.940000	0.644550	0.060000	0.020000	1.000000	0.060000	0.095237	0.060000	0	0.040000	0.090000
KCNH1	3756	broad.mit.edu	37	1	210856924	210856924	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:210856924C>T	ENST00000271751.4	-	11	2696	c.2669G>A	c.(2668-2670)cGc>cAc	p.R890H	KCNH1_ENST00000367007.4_Missense_Mutation_p.R863H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1			68					GTTGTCCAGGCGCAAGTCGCT	0.592000																								0							SO:0001583	missense			ENST00000271751.4	1	1	hg19	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870929	0.72065	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99537	-6.03;-6.11	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.71184	0.858;0.972	D	0.98847	1.0757	10	0.56958	D	0.05	.	18.1618	0.89710	0.0:1.0:0.0:0.0	.	863;890	Q14CL3;O95259	.;KCNH1_HUMAN	H	890;863	ENSP00000271751:R890H;ENSP00000355974:R863H	ENSP00000271751:R890H	R	-	2	0	KCNH1	208923547	1.000000	0.71417	0.907000	0.35723	0.337000	0.28794	7.538000	0.82048	2.290000	0.77057	0.561000	0.74099	CGC		TCGA-HV-A5A6-01A-11D-A26I-08	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	1	0	0	11	267	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	0.998326	11	264	0	41	2		0	0	0	0	41	2	-4.084644	1	1	0	0		1	1	2	3	2.093433	0	0.640000	1.940000	0.644550	0.120000	0.060000	1.000000	0.120000	0.160264	0.120000	0	0.090000	0.180000
LUZP1	7798	broad.mit.edu	37	1	23420022	23420022	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:23420022C>G	ENST00000302291.4	-	4	1534	c.733G>C	c.(733-735)Ggc>Cgc	p.G245R	LUZP1_ENST00000314174.5_Missense_Mutation_p.G245R|LUZP1_ENST00000418342.1_Missense_Mutation_p.G245R|LUZP1_ENST00000374623.3_Missense_Mutation_p.G245R			Q86V48	LUZP1_HUMAN	leucine zipper protein 1			31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)			GAAGAGATGCCATCCTCAATC	0.393000																								0							SO:0001583	missense			ENST00000302291.4	1	1	hg19	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291930	0.59976	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849	T;T;T;T;T	0.43294	2.75;2.75;2.75;2.53;0.95	6.17	6.17	0.99709	.	0.000000	0.49305	D	0.000143	T	0.55289	0.1911	L	0.46157	1.445	0.40391	D	0.979547	D;D	0.71674	0.998;0.998	D;D	0.69142	0.962;0.962	T	0.50947	-0.8767	10	0.41790	T	0.15	.	13.0796	0.59107	0.0:0.9277:0.0:0.0723	.	245;245	Q86V48-2;Q86V48	.;LUZP1_HUMAN	R	245	ENSP00000393460:G245R;ENSP00000363752:G245R;ENSP00000303758:G245R;ENSP00000313705:G245R;ENSP00000428061:G245R	ENSP00000303758:G245R	G	-	1	0	LUZP1	23292609	1.000000	0.71417	0.666000	0.29783	0.800000	0.45204	5.782000	0.68973	2.941000	0.99782	0.655000	0.94253	GGC		TCGA-HV-A5A6-01A-11D-A26I-08	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	1	0	1	120	282	0	28	1	8.466670e-01	3	7	0	28	2		0	0	0	0	0	2	1	1.000000	119	281	0	27	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	1	2	3	2.140631	0	0.640000	1.940000	0.648986	0.950000	0.810000	1.000000	1.000000	0.948852	0.950000	1	0.880000	1.000000
LPPR4	0	broad.mit.edu	37	1	99762345	99762345	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:99762345G>C	ENST00000370185.3	+	3	957	c.460G>C	c.(460-462)Ggg>Cgg	p.G154R	LPPR4_ENST00000370184.1_5'Flank|LPPR4_ENST00000457765.1_Missense_Mutation_p.G154R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN				72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)			AAGAAGAAATGGGGTCGGACT	0.463000																								0							SO:0001583	missense			ENST00000370185.3	1	1	hg19	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279059	0.40294	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178	T;T	0.14640	2.49;2.49	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	L	0.38175	1.15	0.80722	D	1	D;B	0.69078	0.997;0.004	D;B	0.67103	0.949;0.006	T	0.03025	-1.1081	10	0.21540	T	0.41	-25.1467	19.5717	0.95423	0.0:0.0:1.0:0.0	.	154;154	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	R	154	ENSP00000359204:G154R;ENSP00000394913:G154R	ENSP00000263178:G154R	G	+	1	0	RP4-788L13.1	99534933	1.000000	0.71417	0.996000	0.52242	0.738000	0.42128	6.651000	0.74372	2.644000	0.89710	0.655000	0.94253	GGG		TCGA-HV-A5A6-01A-11D-A26I-08	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2	1	0	0	173	355	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1.000000	171	349	0	55	2		0	0	0	0	55	2	-14.707600	1	1	0	0		1	1	2	3	2.140631	0	0.640000	1.940000	0.648986	0.990000	0.920000	1.000000	1.000000	0.992461	0.990000	1	0.980000	1.000000
PCSK2	5126	broad.mit.edu	37	20	17417442	17417442	+	Missense_Mutation	SNP	G	G	A	rs144151196		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr20:17417442G>A	ENST00000262545.2	+	8	1114	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PCSK2_ENST00000377899.1_Missense_Mutation_p.A248T|PCSK2_ENST00000536609.1_Missense_Mutation_p.A232T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2			53				"""Insulin(DB00071)|Insulin Regular(DB00030)"	CATCTACAGCGCCAGCTGGGG	0.617000																								0							SO:0001583	missense			ENST00000262545.2	1	1	hg19	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555701	0.96514	0.0	1.16E-4	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87729	-2.29;-2.29;-2.29	5.38	5.38	0.77491	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.955	D	0.95800	0.8832	10	0.87932	D	0	-30.2528	17.6879	0.88261	0.0:0.0:1.0:0.0	.	232;267	B4DFQ3;P16519	.;NEC2_HUMAN	T	248;267;232	ENSP00000367131:A248T;ENSP00000262545:A267T;ENSP00000437458:A232T	ENSP00000262545:A267T	A	+	1	0	PCSK2	17365442	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.413000	0.97351	2.519000	0.84933	0.655000	0.94253	GCC		TCGA-HV-A5A6-01A-11D-A26I-08	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	1	0	1	76	202	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1.000000	76	199	0	38	2		0	0	0	0	38	2	-6.173506	1	1	121410	2	33	1	1	2	3	2.092438	0	0.640000	1.940000	0.644550	0.860000	0.700000	1.000000	1.000000	0.870026	0.860000	1	0.780000	0.960000
BCR	613	broad.mit.edu	37	22	23596046	23596046	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr22:23596046G>A	ENST00000305877.8	+	2	2091	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	BCR_ENST00000359540.3_Missense_Mutation_p.R447H	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region		BCR/JAK2(6)	35				Bosutinib(DB06616)|Ponatinib(DB08901)	GAGGAGCAGCGCCGGCACCAA	0.622000			T	ABL1,  FGFR1, JAK2 	CML, ALL, AML										Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0							SO:0001583	missense			ENST00000305877.8	1	1	hg19	CCDS13806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.104628|5.104628	0.94245|0.94245	.|.	.|.	ENSG00000186716|ENSG00000186716	ENST00000334149|ENST00000305877;ENST00000359540	.|T;T	.|0.30714	.|1.55;1.52	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.139385	.|0.47852	.|D	.|0.000211	T|T	0.33147|0.33147	0.0853|0.0853	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.61080	.|0.873;0.989;0.981	.|B;P;P	.|0.51974	.|0.256;0.686;0.488	T|T	0.04593|0.04593	-1.0940|-1.0940	6|10	0.13470|0.72032	T|D	0.59|0.01	.|.	12.4859|12.4859	0.55872|0.55872	0.0818:0.0:0.9182:0.0|0.0818:0.0:0.9182:0.0	.|.	.|36;447;447	.|B4E065;P11274-2;P11274	.|.;.;BCR_HUMAN	T|H	112|447	.|ENSP00000303507:R447H;ENSP00000352535:R447H	ENSP00000335450:A112T|ENSP00000303507:R447H	A|R	+|+	1|2	0|0	BCR|BCR	21926046|21926046	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.513000|2.513000	0.45494|0.45494	2.688000|2.688000	0.91661|0.91661	0.591000|0.591000	0.81541|0.81541	GCC|CGC		TCGA-HV-A5A6-01A-11D-A26I-08	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	1	0	1	82	196	0	49	1	9.992319e-01	9	19	0	49	2		0	0	0	0	0	2	1	1.000000	82	195	0	48	2		0	0	0	0	49	2	-20.000000	1	1	0	0		1	2	2	4	2.171594	0	0.640000	1.940000	0.661654	0.980000	0.800000	1.000000	1.000000	0.958621	0.980000	1	0.890000	1.000000
MOV10L1	54456	broad.mit.edu	37	22	50589311	50589311	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr22:50589311G>A	ENST00000262794.5	+	21	2958	c.2875G>A	c.(2875-2877)Gca>Aca	p.A959T	MOV10L1_ENST00000395852.1_Missense_Mutation_p.A86T|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A939T|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A959T|MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A959T|MOV10L1_ENST00000354853.2_Intron	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1			67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)			TGCTTGTGGCGCACATAATCC	0.577000																								0							SO:0001583	missense			ENST00000262794.5	1	1	hg19	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	9.423	1.083604	0.20309	0.0	1.16E-4	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000395852	D;D;T;D;D	0.92752	-1.86;-1.86;-1.44;-2.06;-3.1	5.47	2.05	0.26809	.	0.372221	0.26106	N	0.026316	D	0.84906	0.5576	L	0.27053	0.805	0.21220	N	0.999751	P;B;P;P	0.46987	0.863;0.019;0.587;0.888	B;B;B;P	0.44561	0.324;0.016;0.181;0.453	T	0.76099	-0.3083	10	0.33141	T	0.24	-14.1676	6.3649	0.21449	0.1608:0.0:0.4837:0.3554	.	939;86;959;959	F5H403;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	T	959;959;959;939;86	ENSP00000438978:A959T;ENSP00000262794:A959T;ENSP00000379199:A959T;ENSP00000438542:A939T;ENSP00000379193:A86T	ENSP00000262794:A959T	A	+	1	0	MOV10L1	48931438	0.899000	0.30636	0.334000	0.25495	0.053000	0.15095	1.890000	0.39728	0.670000	0.31165	-0.136000	0.14681	GCA		TCGA-HV-A5A6-01A-11D-A26I-08	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	1	0	1	33	51	0	31	0	0	0	1	0	31	2		0	0	0	0	0	2	1	1.000000	31	51	0	31	2		0	0	0	0	31	2	-20.000000	1	1	121412	8	38	1	0	1	1	1.430720	1	0.640000	1.940000	0.475524	0.820000	0.610000	0.990000	0.830000	0.824307	0.820000	0	0.710000	0.930000
NCKAP5	344148	broad.mit.edu	37	2	133542913	133542913	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:133542913C>A	ENST00000409261.1	-	14	1844	c.1471G>T	c.(1471-1473)Gtt>Ttt	p.V491F	NCKAP5_ENST00000317721.6_Missense_Mutation_p.V491F|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5			118					TGGTTTGGAACTGCTTGGAGC	0.502000																								0							SO:0001583	missense			ENST00000409261.1	1	1	hg19	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	2.579	-0.297922	0.05532	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.12039	2.72;2.72	5.11	-3.94	0.04130	.	1.465370	0.05533	U	0.564360	T	0.07593	0.0191	N	0.19112	0.55	0.09310	N	1	B	0.18610	0.029	B	0.16289	0.015	T	0.40040	-0.9584	10	0.66056	D	0.02	.	2.5501	0.04747	0.1056:0.2809:0.3501:0.2633	.	491	O14513	NCKP5_HUMAN	F	491	ENSP00000387128:V491F;ENSP00000380603:V491F	ENSP00000380603:V491F	V	-	1	0	NCKAP5	133259383	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.038000	0.12144	-0.609000	0.05724	-0.162000	0.13425	GTT		TCGA-HV-A5A6-01A-11D-A26I-08	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	0	0	0	14	473	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	0.999743	14	468	0	66	2		0	0	0	0	67	2	-3.378445	1	1	0	0		1	1	2	3	2.131913	0	0.640000	1.940000	0.647887	0.090000	0.040000	1.000000	0.090000	0.148187	0.090000	0	0.060000	0.130000
B3GALT1	8708	broad.mit.edu	37	2	168726199	168726199	+	Missense_Mutation	SNP	G	G	A	rs148250645	by1000genomes	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:168726199G>A	ENST00000392690.3	+	1	742	c.650G>A	c.(649-651)cGc>cAc	p.R217H	AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.R217H|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1			18					CGGGATGTCCGCAGTAAGTGG	0.453000																								0							SO:0001583	missense			ENST00000392690.3	1	1	hg19	CCDS2227.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.23	2.174355	0.38413	0.0	1.16E-4	ENSG00000172318	ENST00000305861;ENST00000392690	D;D	0.85258	-1.96;-1.96	6.02	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	L	0.28274	0.84	0.58432	D	0.99999	B	0.20671	0.047	B	0.19946	0.027	T	0.72827	-0.4175	10	0.39692	T	0.17	-16.8954	16.7521	0.85488	0.0:0.0:0.8704:0.1295	.	217	Q9Y5Z6	B3GT1_HUMAN	H	217	ENSP00000303740:R217H;ENSP00000376456:R217H	ENSP00000303740:R217H	R	+	2	0	B3GALT1	168434445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.976000	0.88070	2.865000	0.98341	0.655000	0.94253	CGC		TCGA-HV-A5A6-01A-11D-A26I-08	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	1	0	1	94	200	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1.000000	93	198	0	35	2		0	0	0	0	36	2	-9.285806	1	1	121412	21	44	1	1	2	3	2.131913	0	0.640000	1.940000	0.647887	0.990000	0.850000	1.000000	1.000000	0.977349	0.990000	1	0.930000	1.000000
C2orf44	80304	broad.mit.edu	37	2	24262175	24262175	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:24262175A>G	ENST00000295148.4	-	2	247	c.190T>C	c.(190-192)Tcc>Ccc	p.S64P	C2orf44_ENST00000406895.3_Missense_Mutation_p.S64P	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44		C2orf44/ALK(2)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GGGGCCCAGGACAACCCACAG	0.517000			T	ALK	NSCLC										Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0							SO:0001583	missense			ENST00000295148.4	1	1	hg19	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599470	0.66332	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.54071	3.31;3.31;0.59	5.24	5.24	0.73138	.	0.230586	0.47455	D	0.000236	T	0.66117	0.2757	M	0.62723	1.935	0.30894	N	0.730021	D;D	0.63880	0.993;0.993	P;P	0.61132	0.884;0.884	T	0.68236	-0.5462	10	0.36615	T	0.2	-4.878	15.4386	0.75165	1.0:0.0:0.0:0.0	.	64;64	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	P	64	ENSP00000295148:S64P;ENSP00000385816:S64P;ENSP00000413426:S64P	ENSP00000295148:S64P	S	-	1	0	C2orf44	24115679	1.000000	0.71417	0.935000	0.37517	0.714000	0.41099	7.490000	0.81461	2.115000	0.64714	0.533000	0.62120	TCC		TCGA-HV-A5A6-01A-11D-A26I-08	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	1	0	1	82	204	0	59	0	2.021935e-01	0	3	0	59	2		0	0	0	0	0	2	1	1.000000	82	202	0	59	2		0	0	0	0	59	2	-20.000000	1	1	0	0		1	1	2	3	2.127734	0	0.640000	1.940000	0.647887	0.910000	0.750000	1.000000	1.000000	0.915815	0.910000	1	0.830000	1.000000
CAD	790	broad.mit.edu	37	2	27449518	27449518	+	Splice_Site	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:27449518G>A	ENST00000403525.1	+	13	2111		c.e13+1		CAD_ENST00000264705.4_Splice_Site			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase			92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTGAGCTCAGGTACGAGGATG	0.542000																								0							SO:0001630	splice_region_variant			ENST00000403525.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.44	3.828761	0.71258	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0413	0.86490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAD	27303022	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	8.942000	0.92970	2.358000	0.79984	0.485000	0.47835	.		TCGA-HV-A5A6-01A-11D-A26I-08	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	1	0	1	55	119	0	17	0	0	1	0	0	17	2		0	0	0	0	0	2	1	1.000000	55	118	0	16	2		0	0	0	0	17	2	-20.000000	1	1	0	0		1	1	2	3	2.127734	0	0.640000	1.940000	0.647887	0.990000	0.790000	1.000000	1.000000	0.963996	0.990000	1	0.900000	1.000000
ECT2	1894	broad.mit.edu	37	3	172534509	172534509	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr3:172534509C>T	ENST00000392692.3	+	24	2713	c.2537C>T	c.(2536-2538)aCt>aTt	p.T846I	ECT2_ENST00000417960.1_Missense_Mutation_p.T814I|ECT2_ENST00000232458.5_Missense_Mutation_p.T815I|ECT2_ENST00000427830.1_Missense_Mutation_p.T815I|ECT2_ENST00000441497.2_Missense_Mutation_p.T815I|ECT2_ENST00000540509.1_Missense_Mutation_p.T846I	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2			37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		TTCTCCAAAACTCCAAAAAGA	0.378000																								0							SO:0001583	missense			ENST00000392692.3	1	1	hg19	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523463	0.85600	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.75260	-0.8;-0.86;-0.92;-0.8;-0.8;-0.86	5.58	5.58	0.84498	.	0.129180	0.64402	D	0.000001	D	0.84465	0.5478	M	0.73217	2.22	0.80722	D	1	P;D;D;D;B	0.63880	0.867;0.967;0.966;0.993;0.134	P;P;P;P;B	0.61003	0.533;0.823;0.744;0.882;0.041	D	0.85923	0.1447	10	0.87932	D	0	-7.6751	18.3345	0.90283	0.0:1.0:0.0:0.0	.	846;291;846;815;814	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	I	815;846;815;814;815;846	ENSP00000232458:T815I;ENSP00000376457:T846I;ENSP00000401910:T815I;ENSP00000415876:T814I;ENSP00000412259:T815I;ENSP00000443160:T846I	ENSP00000232458:T815I	T	+	2	0	ECT2	174017203	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.978000	0.70501	2.630000	0.89119	0.561000	0.74099	ACT		TCGA-HV-A5A6-01A-11D-A26I-08	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	1	0	1	77	185	0	21	1	1	33	48	0	21	2		0	0	0	0	0	2	1	1.000000	77	184	0	21	2		0	0	0	0	21	2	-20.000000	1	1	0	0		1	1	2	3	2.129753	0	0.640000	1.940000	0.647887	0.940000	0.760000	1.000000	1.000000	0.931692	0.940000	1	0.850000	1.000000
LRIT3	345193	broad.mit.edu	37	4	110791281	110791281	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:110791281G>A	ENST00000594814.1	+	4	1376	c.1376G>A	c.(1375-1377)aGt>aAt	p.S459N	LRIT3_ENST00000327908.3_Missense_Mutation_p.S276N|LRIT3_ENST00000379920.3_Missense_Mutation_p.S414N|LRIT3_ENST00000409621.2_Missense_Mutation_p.S276N	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3			16					AAGAATGGAAGTAAGCTTCCT	0.468000																								0							SO:0001583	missense			ENST00000594814.1	1	1	hg19	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	0.339	-0.951342	0.02285	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.58358	0.34;0.52;0.34	5.06	0.19	0.15125	.	0.885835	0.09711	N	0.765695	T	0.31009	0.0783	N	0.24115	0.695	0.09310	N	1	B;B	0.13594	0.001;0.008	B;B	0.12156	0.001;0.007	T	0.22836	-1.0205	10	0.13470	T	0.59	.	4.3391	0.11101	0.4444:0.1716:0.384:0.0	.	414;276	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	N	276;414;276	ENSP00000328222:S276N;ENSP00000369252:S414N;ENSP00000386734:S276N	ENSP00000328222:S276N	S	+	2	0	LRIT3	111010730	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.091000	0.15046	0.160000	0.19432	-0.123000	0.14984	AGT		TCGA-HV-A5A6-01A-11D-A26I-08	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	0	0	0	10	253	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	0.996797	10	249	0	30	2		0	0	0	0	30	2	-11.774240	1	1	0	0		1	0	1	1	1.861229	1	0.640000	1.940000	0.587156	0.100000	0.050000	0.180000	0.100000	0.112815	0.100000	0	0.070000	0.140000
C4orf21	0	broad.mit.edu	37	4	113511003	113511003	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:113511003T>A	ENST00000505019.1	-	11	3129	c.3004A>T	c.(3004-3006)Aca>Tca	p.T1002S	C4orf21_ENST00000309071.5_Missense_Mutation_p.T1002S	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN				45		Ovarian(17;0.156)			GGGCTCAATGTAGAGATGTTT	0.358000																								0							SO:0001583	missense			ENST00000505019.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	8.042	0.764003	0.15914	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.82984	-1.67;1.92	5.23	1.42	0.22433	.	0.154469	0.30584	N	0.009308	T	0.81283	0.4790	L	0.57536	1.79	0.23298	N	0.997957	D;P	0.52996	0.957;0.95	P;P	0.52856	0.711;0.684	T	0.70044	-0.4980	10	0.20046	T	0.44	-3.4573	6.8286	0.23897	0.0:0.2906:0.0:0.7094	.	1002;1002	Q86YA3;G5EA02	CD021_HUMAN;.	S	1002	ENSP00000424737:T1002S;ENSP00000309095:T1002S	ENSP00000309095:T1002S	T	-	1	0	C4orf21	113730452	0.001000	0.12720	0.002000	0.10522	0.064000	0.16182	-0.294000	0.08309	0.073000	0.16731	0.477000	0.44152	ACA		TCGA-HV-A5A6-01A-11D-A26I-08	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1	1	0	0	104	151	0	32	0	0	1	0	0	32	2		0	0	0	0	0	2	1	1.000000	103	149	0	32	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	0	1	1	1.861229	1	0.640000	1.940000	0.587156	0.990000	0.940000	1.000000	1.000000	0.996542	0.990000	1	0.990000	1.000000
KLHL5	51088	broad.mit.edu	37	4	39083623	39083623	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:39083623A>T	ENST00000504108.1	+	4	1165	c.882A>T	c.(880-882)ttA>ttT	p.L294F	KLHL5_ENST00000508137.2_Missense_Mutation_p.L107F|KLHL5_ENST00000359687.2_Missense_Mutation_p.L294F|KLHL5_ENST00000381930.3_Missense_Mutation_p.L294F|KLHL5_ENST00000261425.3_Missense_Mutation_p.L248F|KLHL5_ENST00000261426.5_Missense_Mutation_p.L233F	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5			29					AGTGCCTGTTATCTACAGCTT	0.343000																								0							SO:0001583	missense			ENST00000504108.1	0	1	hg19	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046001	0.75846	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.45	-3.8	0.04307	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86961	0.6059	M	0.80616	2.505	0.58432	D	0.999998	D;D;D	0.89917	0.985;1.0;1.0	P;D;D	0.87578	0.868;0.998;0.996	D	0.85649	0.1281	10	0.87932	D	0	.	12.1229	0.53902	0.267:0.1183:0.6147:0.0	.	233;294;294	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	F	328;248;107;294;294;294;233	ENSP00000261425:L248F;ENSP00000423080:L107F;ENSP00000423897:L294F;ENSP00000352716:L294F;ENSP00000371355:L294F;ENSP00000261426:L233F	ENSP00000261425:L248F	L	+	3	2	KLHL5	38760018	0.997000	0.39634	0.918000	0.36340	0.982000	0.71751	0.453000	0.21811	-0.821000	0.04312	-0.561000	0.04177	TTA		TCGA-HV-A5A6-01A-11D-A26I-08	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1	0	0	0	10	419	0	34	0	6.460234e-02	0	16	0	34	2		0	0	0	0	0	2	1	0.996808	10	415	0	34	2		0	0	0	0	34	2	-9.656365	1	1	0	0		1	1	2	3	2.127070	0	0.640000	1.940000	0.647887	0.070000	0.030000	1.000000	0.080000	0.132640	0.070000	0	0.050000	0.110000
PCDHA7	56141	broad.mit.edu	37	5	140215907	140215907	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:140215907C>T	ENST00000525929.1	+	1	1939	c.1939C>T	c.(1939-1941)Ctt>Ttt	p.L647F	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.L647F|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7			63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCGCCACCGCCTTCTGGTGCT	0.672000													NSCLC(160;258 2013 5070 22440 28951)											0							SO:0001583	missense			ENST00000525929.1	0	1	hg19	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839491	0.51057	0.0	1.16E-4	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.56776	0.44;0.44	3.57	2.67	0.31697	Cadherin (4);Cadherin-like (1);	0.000000	0.26373	U	0.024756	T	0.67924	0.2945	M	0.70275	2.135	0.37052	D	0.897663	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73566	-0.3942	10	0.87932	D	0	.	10.3044	0.43672	0.0:0.899:0.0:0.101	.	647;647	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	F	647	ENSP00000436426:L647F;ENSP00000367365:L647F	ENSP00000367365:L647F	L	+	1	0	PCDHA7	140196091	0.008000	0.16893	0.997000	0.53966	0.436000	0.31835	0.148000	0.16224	0.787000	0.33731	0.462000	0.41574	CTT		TCGA-HV-A5A6-01A-11D-A26I-08	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	0	0	0	6	261	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	0.964641	6	259	0	59	2		0	0	0	0	60	2	-7.124412	1	0	121400	4	40	1	0	1	1	1.467848	1	0.640000	1.940000	0.475524	0.040000	0.010000	0.100000	0.050000	0.055590	0.040000	0	0.020000	0.080000
PCDHGB7	56099	broad.mit.edu	37	5	140798705	140798705	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:140798705A>G	ENST00000398594.2	+	1	1279	c.1279A>G	c.(1279-1281)Agg>Ggg	p.R427G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7			56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGCCACAGACAGGGGCAAGCC	0.512000																								0							SO:0001583	missense			ENST00000398594.2	0	1	hg19	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	0.022	-1.406676	0.01155	.	.	ENSG00000254122	ENST00000398594	T	0.01665	4.7	5.48	2.98	0.34508	Cadherin (4);Cadherin-like (1);	0.246709	0.20343	U	0.094184	T	0.01092	0.0036	N	0.12611	0.24	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.20384	0.029;0.018	T	0.49504	-0.8933	10	0.19590	T	0.45	.	4.0845	0.09940	0.5796:0.2387:0.0668:0.1149	.	427;427	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	G	427	ENSP00000381594:R427G	ENSP00000381594:R427G	R	+	1	2	PCDHGB7	140778889	0.000000	0.05858	0.933000	0.37362	0.268000	0.26511	0.449000	0.21744	0.338000	0.23692	0.402000	0.26972	AGG		TCGA-HV-A5A6-01A-11D-A26I-08	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	0	0	0	5	175	0	39	0	1.261034e-03	0	2	0	39	2		0	0	0	0	0	2	1	0.935641	5	172	0	39	2		0	0	0	0	39	2	-7.413249	1	0	0	0		1	0	1	1	1.467848	1	0.640000	1.940000	0.475524	0.060000	0.020000	0.130000	0.060000	0.070284	0.060000	0	0.030000	0.100000
KIF4B	285643	broad.mit.edu	37	5	154394186	154394186	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:154394186G>A	ENST00000435029.4	+	1	927	c.767G>A	c.(766-768)cGt>cAt	p.R256H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B			58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		GAAGGGGATCGTCTAAAAGAG	0.438000																								0							SO:0001583	missense			ENST00000435029.4	1	1	hg19	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	15.48	2.846628	0.51164	.	.	ENSG00000226650	ENST00000435029	T	0.75704	-0.96	1.73	-0.196	0.13232	Kinesin, motor domain (4);	.	.	.	.	D	0.85796	0.5780	M	0.92880	3.355	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.82358	-0.0497	9	0.87932	D	0	.	5.6824	0.17784	0.3387:0.0:0.6613:0.0	.	256	Q2VIQ3	KIF4B_HUMAN	H	256	ENSP00000387875:R256H	ENSP00000387875:R256H	R	+	2	0	KIF4B	154374379	0.928000	0.31464	0.987000	0.45799	0.991000	0.79684	3.002000	0.49496	-0.068000	0.12953	-0.137000	0.14449	CGT		TCGA-HV-A5A6-01A-11D-A26I-08	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	1	0	1	174	183	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1.000000	170	180	0	57	2		0	0	0	0	57	2	-20.000000	1	1	121412	3	37	1	0	1	1	1.467848	1	0.640000	1.940000	0.475524	0.980000	0.900000	1.000000	1.000000	0.980439	0.980000	1	0.940000	1.000000
CDH9	1007	broad.mit.edu	37	5	26889954	26889954	+	Silent	SNP	T	T	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:26889954T>C	ENST00000231021.4	-	9	1675	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)			137					CCTGCCCAGGTTTTGCATTTT	0.308000													Melanoma(8;187 585 15745 40864 52829)											0							SO:0001819	synonymous_variant			ENST00000231021.4	1	1	hg19	CCDS3893.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	1	0	0	181	200	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1.000000	181	198	0	19	2		0	0	0	0	19	2	-20.000000	1	1	0	0		1	1	3	4	2.829217	1	0.640000	1.940000	0.738676	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
AHRR	57491	broad.mit.edu	37	5	434610	434610	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:434610G>A	ENST00000505113.1	+	11	1811	c.1767G>A	c.(1765-1767)tcG>tcA	p.S589S	AHRR_ENST00000316418.5_Silent_p.S607S|AHRR_ENST00000512529.1_Silent_p.S435S|AHRR_ENST00000506456.1_Silent_p.S445S	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor			20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		TGTACATCTCGCACCTGGGGC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000505113.1	1	1	hg19	CCDS56355.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	1	0	1	60	119	0	16	1	2.653755e-01	2	1	0	16	2		0	0	0	0	0	2	1	1.000000	59	119	0	15	2		0	0	0	0	16	2	-20.000000	1	1	121012	3	30	1	1	3	4	2.766949	1	0.640000	1.940000	0.751381	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	0.990000	1.000000
JARID2	3720	broad.mit.edu	37	6	15497190	15497190	+	Silent	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:15497190C>T	ENST00000341776.2	+	7	1978	c.1734C>T	c.(1732-1734)cgC>cgT	p.R578R	JARID2_ENST00000541660.1_Silent_p.R540R|JARID2_ENST00000397311.3_Silent_p.R406R	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2			59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)			AGTCGGTCCGCGCTCAGGTGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000341776.2	1	1	hg19	CCDS4533.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	1	0	1	23	87	0	12	0	2.934624e-01	0	5	0	12	2		0	0	0	0	0	2	1	1.000000	23	87	0	12	2		0	0	0	0	12	2	-20.000000	1	1	121408	2	29	1	0	1	1	1.785526	1	0.640000	1.940000	0.579439	0.550000	0.370000	0.770000	0.560000	0.569464	0.550000	0	0.460000	0.670000
TTBK1	84630	broad.mit.edu	37	6	43251409	43251409	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:43251409G>A	ENST00000259750.4	+	14	3014	c.2931G>A	c.(2929-2931)gcG>gcA	p.A977A		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1			53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		GGGCCCGAGCGCCCCTGGAGA	0.697000																								0							SO:0001819	synonymous_variant			ENST00000259750.4	1	1	hg19	CCDS34455.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3	1	0	1	46	194	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1.000000	45	193	0	41	2		0	0	0	0	41	2	-3.539157	1	1	121356	15	40	1	0	1	1	1.790127	1	0.640000	1.940000	0.576271	0.500000	0.380000	0.640000	0.510000	0.514067	0.500000	0	0.440000	0.580000
MTO1	25821	broad.mit.edu	37	6	74210401	74210401	+	Silent	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:74210401A>G	ENST00000370300.4	+	13	2187	c.2097A>G	c.(2095-2097)tcA>tcG	p.S699S	MTO1_ENST00000370305.1_Silent_p.S625S|MTO1_ENST00000415954.2_Silent_p.S714S|MTO1_ENST00000498286.1_Silent_p.S674S	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1			27					TGAATGAATCATCCAAGACTG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000370300.4	0	1	hg19	CCDS4979.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	0	0	0	7	324	0	29	0	2.421131e-01	0	39	0	29	2		0	0	0	0	0	2	1	0.980471	7	322	0	29	2		0	0	0	0	29	2	-3.426537	1	1	0	0		1	1	2	3	2.074786	0	0.640000	1.940000	0.642289	0.060000	0.020000	0.140000	0.060000	0.084500	0.060000	0	0.040000	0.100000
OR2A14	135941	broad.mit.edu	37	7	143826995	143826995	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:143826995C>T	ENST00000408899.2	+	1	845	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14			22	Melanoma(164;0.0783)				CCCCAAGTCCCGCCATCCTGA	0.542000																								0							SO:0001583	missense			ENST00000408899.2	1	1	hg19	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	C	4.537	0.099753	0.08681	.	.	ENSG00000221938	ENST00000408899	T	0.00130	8.69	4.18	-5.49	0.02584	GPCR, rhodopsin-like superfamily (1);	2.119410	0.03153	U	0.168207	T	0.00144	0.0004	L	0.35414	1.06	0.09310	N	1	B	0.19817	0.039	B	0.21546	0.035	T	0.33904	-0.9850	10	0.72032	D	0.01	0.4492	11.4184	0.49967	0.7699:0.1508:0.0:0.0792	.	264	Q96R47	O2A14_HUMAN	C	264	ENSP00000386137:R264C	ENSP00000386137:R264C	R	+	1	0	OR2A14	143457928	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.560000	0.00921	-0.882000	0.03987	-0.310000	0.09108	CGC		TCGA-HV-A5A6-01A-11D-A26I-08	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1	1	0	1	147	450	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1.000000	144	444	0	132	2		0	0	0	0	132	2	-5.033565	1	1	0	0		1	0	1	1	1.455483	1	0.640000	1.940000	0.475524	0.520000	0.450000	0.600000	0.530000	0.529005	0.520000	0	0.480000	0.570000
FAM126A	84668	broad.mit.edu	37	7	23000935	23000935	+	Silent	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:23000935A>G	ENST00000432176.2	-	9	982	c.750T>C	c.(748-750)aaT>aaC	p.N250N	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_Silent_p.N250N	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A			23					CCCATTCTCCATTATAACTAT	0.294000																								0							SO:0001819	synonymous_variant			ENST00000432176.2	1	1	hg19	CCDS5377.1	.	.	.	.	.	.	.	.	.	.	A	7.238	0.600710	0.13939	.	.	ENSG00000122591	ENST00000440481	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	T	0.71239	0.3316	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70722	-0.4794	4	.	.	.	-20.4149	15.2237	0.73333	1.0:0.0:0.0:0.0	.	.	.	.	T	302	.	.	M	-	2	0	FAM126A	22967460	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.815000	0.55651	2.008000	0.58898	0.528000	0.53228	ATG		TCGA-HV-A5A6-01A-11D-A26I-08	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	1	0	0	48	601	0	38	0	1.714472e-01	1	9	0	38	2		0	0	0	0	0	2	1	1.000000	48	593	0	38	2		0	0	0	0	38	2	-11.272510	1	1	0	0		1	1	3	4	3.140805	1	0.640000	1.940000	0.763903	0.360000	0.260000	1.000000	0.360000	0.447703	0.360000	0	0.300000	0.460000
CHST12	55501	broad.mit.edu	37	7	2473140	2473140	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:2473140G>A	ENST00000258711.6	+	2	1001	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12			21		Ovarian(82;0.0253)			GCCTCGGCGCGCGAGGCCTTC	0.652000																								0							SO:0001583	missense			ENST00000258711.6	1	1	hg19	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183472	0.21870	.	.	ENSG00000136213	ENST00000258711	T	0.74106	-0.81	5.27	4.38	0.52667	.	1.737820	0.03407	N	0.204206	T	0.66626	0.2808	L	0.32530	0.975	0.23673	N	0.997141	P	0.34615	0.459	B	0.19666	0.026	T	0.57825	-0.7744	10	0.48119	T	0.1	-6.0021	13.4009	0.60883	0.0759:0.0:0.9241:0.0	.	289	Q9NRB3	CHSTC_HUMAN	H	289	ENSP00000258711:R289H	ENSP00000258711:R289H	R	+	2	0	CHST12	2439666	0.995000	0.38212	0.794000	0.32065	0.913000	0.54294	2.682000	0.46934	1.221000	0.43506	0.462000	0.41574	CGC		TCGA-HV-A5A6-01A-11D-A26I-08	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	1	0	1	104	464	0	74	1	1	28	89	0	74	2		0	0	0	0	0	2	1	1.000000	100	448	0	72	2		0	0	0	0	74	2	-20.000000	1	1	0	0		1	1	3	4	3.140805	1	0.640000	1.940000	0.763903	0.880000	0.720000	1.000000	1.000000	0.892362	0.880000	1	0.800000	1.000000
TECPR1	25851	broad.mit.edu	37	7	97863071	97863071	+	Missense_Mutation	SNP	G	G	T	rs113639233		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:97863071G>T	ENST00000447648.2	-	11	1633	c.1334C>A	c.(1333-1335)gCc>gAc	p.A445D	TECPR1_ENST00000542604.1_Missense_Mutation_p.A375D|TECPR1_ENST00000379795.3_Missense_Mutation_p.A445D			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1			26					CAGGCCTGAGGCTGAGTTCCC	0.647000																								0							SO:0001583	missense			ENST00000447648.2	0	0	hg19	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	5.957	0.360476	0.11296	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.31247	1.5;1.5;1.5	3.73	3.73	0.42828	.	1.167180	0.06148	N	0.673577	T	0.19846	0.0477	N	0.08118	0	0.09310	N	0.999998	B;B	0.29341	0.216;0.242	B;B	0.31191	0.125;0.068	T	0.08066	-1.0740	10	0.12430	T	0.62	-14.1381	14.8693	0.70444	0.0:0.0:1.0:0.0	.	375;445	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	D	445;445;375	ENSP00000404923:A445D;ENSP00000369121:A445D;ENSP00000441121:A375D	ENSP00000369121:A445D	A	-	2	0	TECPR1	97701007	0.059000	0.20769	0.081000	0.20488	0.039000	0.13416	2.694000	0.47035	1.826000	0.53198	0.462000	0.41574	GCC		TCGA-HV-A5A6-01A-11D-A26I-08	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	1	0	1	14	120	0	13	1	8.835639e-01	19	16	0	13	2		0	0	0	0	0	2	1	0.999798	14	119	0	13	2		0	0	0	0	13	2	-8.149257	1	0	0	0		1	1	2	3	2.508307	1	0.640000	1.940000	0.699599	0.430000	0.230000	1.000000	0.390000	0.545835	0.430000	0	0.320000	1.000000
AP3M2	10947	broad.mit.edu	37	8	42023053	42023053	+	Silent	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr8:42023053C>T	ENST00000518421.1	+	7	1069	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	AP3M2_ENST00000396926.3_Silent_p.L260L|AP3M2_ENST00000174653.3_Silent_p.L260L|AP3M2_ENST00000517922.1_Silent_p.L260L|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit			17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		CTTCCGCCTGCTGTCTTACCA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000518421.1	1	1	hg19	CCDS6125.1																																																																																				TCGA-HV-A5A6-01A-11D-A26I-08	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1	0	0	0	18	767	0	91	0	1.235539e-01	0	25	0	91	2		0	0	0	0	0	2	1	0.999979	18	755	0	91	2		0	0	0	0	91	2	-2.732411	1	1	0	0		1	1	2	3	2.335731	1	0.640000	1.940000	0.688797	0.090000	0.040000	1.000000	0.080000	0.308508	0.090000	0	0.060000	1.000000
COL4A5	1287	broad.mit.edu	37	X	107849999	107849999	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:107849999C>A	ENST00000361603.2	+	29	2516	c.2272C>A	c.(2272-2274)Cca>Aca	p.P758T	COL4A5_ENST00000328300.6_Missense_Mutation_p.P758T	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5			99					ATTACCTGGGCCACCTGGGCC	0.507000									Alport syndrome with Diffuse Leiomyomatosis															0							SO:0001583	missense	Familial Cancer Database		ENST00000361603.2	0	1	hg19	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392716	0.62066	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97710	-4.5;-4.5	5.61	5.61	0.85477	.	0.121540	0.56097	D	0.000027	D	0.98071	0.9364	M	0.66506	2.035	0.53688	D	0.999976	D;D;D	0.69078	0.982;0.997;0.982	P;D;P	0.63113	0.812;0.911;0.812	D	0.97820	1.0256	10	0.14656	T	0.56	.	18.6523	0.91435	0.0:1.0:0.0:0.0	.	758;366;758	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	T	758	ENSP00000331902:P758T;ENSP00000354505:P758T	ENSP00000331902:P758T	P	+	1	0	COL4A5	107736655	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.456000	0.80751	2.348000	0.79779	0.600000	0.82982	CCA		TCGA-HV-A5A6-01A-11D-A26I-08	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2	0	0	0	11	545	0	65	0	2.901728e-03	0	4	0	65	2		0	0	0	0	0	2	1	0.998291	11	541	0	64	2		0	0	0	0	65	2	-3.117730	1	1	0	0		1	0	1	1			0.640000	1.940000	0.640000	0.060000	0.020000	0.110000	0.060000	0.067096	0.060000	0	0.040000	0.090000
ARHGAP6	395	broad.mit.edu	37	X	11187680	11187680	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:11187680G>A	ENST00000337414.4	-	9	2626	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.T617M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.T394M|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.T410M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.T382M|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.T585M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.T382M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6			38					GATGATGGCCGTGCTCTCCTC	0.483000																								0							SO:0001583	missense			ENST00000337414.4	1	1	hg19	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622793	0.66787	2.61E-4	0.0	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.57	5.57	0.84162	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.53938	D	0.000044	T	0.55641	0.1933	L	0.45051	1.395	0.58432	D	0.999995	D;D;D;D;D	0.89917	0.999;0.996;1.0;0.998;1.0	P;P;D;D;D	0.69824	0.791;0.813;0.966;0.917;0.964	T	0.55829	-0.8079	10	0.54805	T	0.06	.	14.2504	0.66016	0.0:0.0:0.8507:0.1493	.	394;382;585;585;585	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	M	410;382;382;585;421;585;394;617	ENSP00000438135:T410M;ENSP00000370112:T382M;ENSP00000302312:T382M;ENSP00000338967:T585M;ENSP00000370093:T421M;ENSP00000370094:T585M;ENSP00000389394:T394M;ENSP00000370108:T617M	ENSP00000302312:T382M	T	-	2	0	ARHGAP6	11097601	1.000000	0.71417	0.975000	0.42487	0.717000	0.41224	6.141000	0.71744	2.344000	0.79699	0.544000	0.68410	ACG		TCGA-HV-A5A6-01A-11D-A26I-08	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	1	0	1	86	426	0	56	1	5.749979e-01	5	6	0	56	2		0	0	0	0	0	2	1	1.000000	85	424	0	56	2		0	0	0	0	56	2	-20.000000	1	1	121412	1	36	1	0	1	1			0.640000	1.940000	0.640000	0.520000	0.420000	0.630000	0.520000	0.528350	0.520000	0	0.470000	0.580000
SLC7A3	84889	broad.mit.edu	37	X	70149579	70149579	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:70149579C>T	ENST00000374299.3	-	2	413	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R90Q			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3			31	Renal(35;0.156)			L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACGGGGAACCCGGGCACCAAA	0.542000																								0							SO:0001583	missense			ENST00000374299.3	1	1	hg19	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954560	0.92726	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89875	-2.58;-2.58	4.7	4.7	0.59300	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.94145	0.8122	M	0.87269	2.87	0.80722	D	1	D	0.62365	0.991	P	0.60012	0.867	D	0.95016	0.8156	10	0.62326	D	0.03	.	15.7504	0.77980	0.0:1.0:0.0:0.0	.	90	Q8WY07	CTR3_HUMAN	Q	90	ENSP00000363417:R90Q;ENSP00000298085:R90Q	ENSP00000298085:R90Q	R	-	2	0	SLC7A3	70066304	1.000000	0.71417	0.961000	0.40146	0.906000	0.53458	7.511000	0.81718	2.168000	0.68352	0.529000	0.55759	CGG		TCGA-HV-A5A6-01A-11D-A26I-08	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	1	0	1	33	95	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	1.000000	33	95	0	22	2		0	0	0	0	22	2	-20.000000	1	1	121410	1	21	1	0	1	1			0.640000	1.940000	0.640000	0.800000	0.580000	1.000000	1.000000	0.810000	0.800000	0	0.680000	0.930000
