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
ZNF658	26149	broad.mit.edu	37	9	40772411	40772411	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:40772411delA	ENST00000602553.1	-	5	3158	c.2864delT	c.(2863-2865)gtafs	p.V955fs	ZNF658_ENST00000377626.3_Frame_Shift_Del_p.V955fs|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658			46					TCTTTGATGTACTCTGAGGGT	0.423000																								0							SO:0001589	frameshift_variant			ENST00000602553.1	0	1	hg19	CCDS35023.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	1	0	0	143	1156	0	180	0	2.194645e-01	0	8	0	180	2	0	0	0	0	0	0		1	1	41	182	0	180	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.770920	1	0.270000	2.180000	0.145399	0.690000	5.800000e-01	0.800000	0.690000	0.697158	0.690000	0	0.630000	0.750000
CTNNA3	29119	broad.mit.edu	37	10	67680252	67680252	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:67680252G>A	ENST00000433211.2	-	18	2698	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R842W	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3			95					ACTGGGTGCCGGGGCCCAGCA	0.478000																								0							SO:0001583	missense			ENST00000433211.2	0	1	hg19	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709574	0.68730	2.27E-4	0.0	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.37235	1.21;1.21;1.21	5.92	2.87	0.33458	.	0.000000	0.52532	D	0.000080	T	0.43875	0.1267	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.44513	-0.9323	10	0.72032	D	0.01	-12.5285	13.3618	0.60661	0.0:0.0:0.423:0.577	.	842	Q9UI47	CTNA3_HUMAN	W	842;842;181	ENSP00000389714:R842W;ENSP00000362849:R842W;ENSP00000362840:R181W	ENSP00000362840:R181W	R	-	1	2	CTNNA3	67350258	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	2.574000	0.46016	0.779000	0.33543	-0.169000	0.13324	CGG		TCGA-RB-A7B8-01A-12D-A33T-08	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	0	0	0	8	639	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	9.890169e-01	8	633	0	101	2		0	0	0	0	101	2	-1.986958	0	1	121412	8	46	1	0	0	0	1.924992	0	0.270000	2.180000	0.257979	0.090000	3.000000e-02	0.170000	0.090000	0.100610	0.090000	0	0.060000	0.130000
EIF4EBP2	1979	broad.mit.edu	37	10	72179709	72179709	+	Missense_Mutation	SNP	G	G	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:72179709G>C	ENST00000373218.4	+	2	208	c.185G>C	c.(184-186)cGt>cCt	p.R62P		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2			1					CTGTTGGATCGTCGCAATTCT	0.433000																								0							SO:0001583	missense			ENST00000373218.4	1	1	hg19	CCDS7303.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628140	0.87560	.	.	ENSG00000148730	ENST00000373218	.	.	.	5.56	4.66	0.58398	.	0.047741	0.85682	D	0.000000	T	0.68274	0.2983	L	0.56769	1.78	0.58432	D	0.999999	D	0.61697	0.99	P	0.59357	0.856	T	0.71258	-0.4646	9	0.59425	D	0.04	-6.3829	13.7427	0.62857	0.0756:0.0:0.9244:0.0	.	62	Q13542	4EBP2_HUMAN	P	62	.	ENSP00000362314:R62P	R	+	2	0	EIF4EBP2	71849715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.117000	0.94347	1.498000	0.48600	0.650000	0.86243	CGT		TCGA-RB-A7B8-01A-12D-A33T-08	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048513.1	1	0	1	63	399	0	63	1	9.992112e-01	14	55	0	63	2		0	0	0	0	0	2	1	1	63	389	0	62	2		0	0	0	0	63	2	-20.000000	1	1	0	0		1	0	0	0	1.924992	0	0.270000	2.180000	0.257979	0.980000	7.700000e-01	1.000000	1.000000	0.953232	0.980000	1	0.870000	1.000000
ZC3H12C	85463	broad.mit.edu	37	11	110036119	110036119	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:110036119G>A	ENST00000278590.3	+	6	2360	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R739H|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R771H	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C			37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)			CCTTATTCCCGCCAGGAAGGC	0.552000																								0							SO:0001583	missense			ENST00000278590.3	0	1	hg19	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.459973	0.26248	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.31769	1.48;1.48;1.48	5.92	5.92	0.95590	.	0.526358	0.22068	N	0.065080	T	0.26231	0.0640	L	0.29908	0.895	0.36328	D	0.858707	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.16778	-1.0391	10	0.14656	T	0.56	-14.1476	20.3206	0.98668	0.0:0.0:1.0:0.0	.	771;770;770	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	H	770;771;739	ENSP00000278590:R770H;ENSP00000431821:R771H;ENSP00000413094:R739H	ENSP00000278590:R770H	R	+	2	0	ZC3H12C	109541329	0.997000	0.39634	0.996000	0.52242	0.081000	0.17604	2.472000	0.45136	2.809000	0.96659	0.655000	0.94253	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	0	0	0	10	487	1	110	0	3.065673e-03	0	4	1	110	2		0	0	0	0	0	2	1	9.966758e-01	10	479	0	110	2		0	0	0	1	110	2	-2.493307	0	1	120920	1	37	1	0	0	0	1.939489	0	0.270000	2.180000	0.266037	0.150000	7.000000e-02	0.260000	0.150000	0.161509	0.150000	0	0.100000	0.210000
SCN3B	55800	broad.mit.edu	37	11	123516310	123516310	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:123516310G>A	ENST00000392770.2	-	2	1006	c.204C>T	c.(202-204)ggC>ggT	p.G68G	SCN3B_ENST00000299333.3_Silent_p.G68G|SCN3B_ENST00000530277.1_Silent_p.G68G	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit			26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		Valproic Acid(DB00313)|Zonisamide(DB00909)	AATCTTTACCGCCCTCGGGCC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000392770.2	1	1	hg19	CCDS8442.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	1	0	1	109	525	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1	109	521	0	84	2		0	0	0	0	84	2	-20.000000	1	1	121412	2	33	1	0	0	0	1.939489	0	0.270000	2.180000	0.266037	0.990000	9.900000e-01	1.000000	1.000000	0.999848	0.990000	1	0.990000	1.000000
NUP160	23279	broad.mit.edu	37	11	47861533	47861533	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:47861533T>C	ENST00000378460.2	-	4	656	c.610A>G	c.(610-612)Att>Gtt	p.I204V	NUP160_ENST00000530326.1_Missense_Mutation_p.I90V|NUP160_ENST00000528071.1_Missense_Mutation_p.I90V|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000526870.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa			53					ACTGCTGGAATTAACTGATAG	0.458000																								0							SO:0001583	missense			ENST00000378460.2	1	1	hg19	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236417	0.79800	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.44881	0.91;0.91;0.91	5.44	5.44	0.79542	.	0.052986	0.64402	D	0.000001	T	0.54029	0.1833	M	0.65975	2.015	0.80722	D	1	P	0.45126	0.851	P	0.51055	0.657	T	0.53563	-0.8421	10	0.39692	T	0.17	.	15.4885	0.75587	0.0:0.0:0.0:1.0	.	204	Q12769	NU160_HUMAN	V	204;90;90	ENSP00000367721:I204V;ENSP00000433590:I90V;ENSP00000432367:I90V	ENSP00000367721:I204V	I	-	1	0	NUP160	47818109	1.000000	0.71417	0.992000	0.48379	0.917000	0.54804	5.079000	0.64431	2.063000	0.61619	0.533000	0.62120	ATT		TCGA-RB-A7B8-01A-12D-A33T-08	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	1	0	1	81	443	0	61	1	5.281107e-01	2	9	0	61	2		0	0	0	0	0	2	1	1	81	438	0	61	2		0	0	0	0	61	2	-20.000000	1	1	0	0		1	0	0	0	1.943762	0	0.270000	2.180000	0.266037	0.990000	9.100000e-01	1.000000	1.000000	0.994626	0.990000	1	0.990000	1.000000
OR51A2	401667	broad.mit.edu	37	11	4976163	4976163	+	Missense_Mutation	SNP	C	C	T	rs75797492	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:4976163C>T	ENST00000380371.1	-	1	780	c.781G>A	c.(781-783)Gtt>Att	p.V261I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2			17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			CGGTGGACAACGGCCAGGTTG	0.468000																								0							SO:0001583	missense			ENST00000380371.1	1	1	hg19	CCDS31368.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	-	1.405	-0.577068	0.03854	0.007315	1.27E-4	ENSG00000205496	ENST00000380371	T	0.34667	1.35	3.26	-2.5	0.06384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09113	0.0225	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.23762	-1.0179	9	0.25106	T	0.35	.	4.7352	0.12984	0.1471:0.3962:0.0:0.4567	.	261	Q8NGJ7	O51A2_HUMAN	I	261	ENSP00000369729:V261I	ENSP00000369729:V261I	V	-	1	0	OR51A2	4932739	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.751000	0.00055	-0.397000	0.07691	-0.367000	0.07326	GTT		TCGA-RB-A7B8-01A-12D-A33T-08	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	1	0	1	92	273	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	91	266	0	60	2		0	0	0	0	55	2	-2.844697	1	1	107788	65	53	1	0	0	0	1.943762	0	0.270000	2.180000	0.266037	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
OR8H2	390151	broad.mit.edu	37	11	55872750	55872750	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:55872750G>A	ENST00000313503.1	+	1	232	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2			61	Esophageal squamous(21;0.00693)				CTCAACTGTCGTCACACCTAA	0.438000										HNSCC(53;0.14)														0							SO:0001583	missense			ENST00000313503.1	0	1	hg19	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	0.053	-1.245473	0.01481	.	.	ENSG00000181767	ENST00000313503	T	0.01406	4.93	3.58	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.117869	0.38959	N	0.001502	T	0.00608	0.0020	N	0.03016	-0.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49123	-0.8972	10	0.02654	T	1	.	8.3388	0.32230	0.8257:0.0:0.1743:0.0	.	78	Q8N162	OR8H2_HUMAN	I	78	ENSP00000323982:V78I	ENSP00000323982:V78I	V	+	1	0	OR8H2	55629326	0.004000	0.15560	0.989000	0.46669	0.646000	0.38490	2.210000	0.42816	0.080000	0.16959	-0.573000	0.04149	GTC		TCGA-RB-A7B8-01A-12D-A33T-08	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	0	0	0	15	1523	0	310		0	0	0	0	310	2		0	0	0	0	0	2	1	9.997491e-01	13	1399	0	339	2		0	0	0	0	310	2	-2.619821	1	1	121412	2	39	1	0	0	0	1.943762	0	0.270000	2.180000	0.266037	0.070000	3.000000e-02	0.120000	0.080000	0.076412	0.070000	0	0.050000	0.100000
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:56020051G>A	ENST00000303059.3	+	1	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3			39	Esophageal squamous(21;0.00448)				TTCATTTATCGGATGTGCAAC	0.363000																								0							SO:0001583	missense			ENST00000303059.3	0	1	hg19	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.452159	0.26074	.	.	ENSG00000172489	ENST00000303059	T	0.09817	2.94	4.55	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.542212	0.15279	U	0.270784	T	0.24812	0.0602	M	0.69358	2.11	0.09310	N	1	D	0.62365	0.991	P	0.58660	0.843	T	0.04216	-1.0968	10	0.87932	D	0	.	11.1733	0.48584	0.0:0.1392:0.716:0.1448	.	126	Q8NGG3	OR5T3_HUMAN	R	126	ENSP00000305403:G126R	ENSP00000305403:G126R	G	+	1	0	OR5T3	55776627	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.613000	0.24299	0.603000	0.29913	-0.189000	0.12847	GGA		TCGA-RB-A7B8-01A-12D-A33T-08	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	0	0	0	5	779	0	142		0	0	0	0	142	2		0	0	0	0	0	2	1	9.366554e-01	5	774	0	142	2		0	0	0	0	142	2	-1.839087	0	1	121410	13	46	1	0	0	0	1.943762	0	0.270000	2.180000	0.266037	0.040000	0	0.110000	0.050000	0.055980	0.040000	0	0.020000	0.080000
TNKS1BP1	85456	broad.mit.edu	37	11	57077417	57077417	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:57077417G>A	ENST00000532437.1	-	5	3079	c.2768C>T	c.(2767-2769)gCc>gTc	p.A923V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A923V|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	p.A923V(1)		64		all_epithelial(135;0.21)			CTGCTCATCGGCATCCTGGCT	0.572000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000532437.1	0	1	hg19	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209903	0.39003	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34472	1.36;1.36	5.47	1.3	0.21679	.	0.803739	0.10698	N	0.644437	T	0.42223	0.1193	L	0.59436	1.845	0.09310	N	1	D	0.54964	0.969	P	0.55011	0.766	T	0.22977	-1.0201	10	0.46703	T	0.11	-0.6792	3.1082	0.06348	0.1593:0.1452:0.5597:0.1357	.	923	Q9C0C2	TB182_HUMAN	V	923	ENSP00000350990:A923V;ENSP00000437271:A923V	ENSP00000350990:A923V	A	-	2	0	TNKS1BP1	56833993	0.000000	0.05858	0.002000	0.10522	0.117000	0.20001	0.116000	0.15561	0.245000	0.21373	0.462000	0.41574	GCC		TCGA-RB-A7B8-01A-12D-A33T-08	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	0	0	0	8	964	1	166	0	1.463471e-02	0	184	1	166	6		0	0	0	0	0	2	0	1.584165e-02	8	953	1	164	20		0	0	0	1	166	2	-1.695440	0	1	0	0		1	0	0	0	1.943762	0	0.270000	2.180000	0.266037	0.060000	2.000000e-02	0.120000	0.060000	0.067897	0.060000	0	0.030000	0.090000
RARRES3	5920	broad.mit.edu	37	11	63312120	63312120	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:63312120G>A	ENST00000255688.3	+	3	194	c.146G>A	c.(145-147)aGt>aAt	p.S49N	RARRES3_ENST00000439013.2_Missense_Mutation_p.S49N|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.S49N	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3			6					GGCTCCTCCAGTGTCTTCTCA	0.567000																								0							SO:0001583	missense			ENST00000255688.3	0	1	hg19	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385443	0.42308	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.24908	1.83;1.83;1.83	4.29	-3.33	0.04958	.	0.677062	0.13847	N	0.358591	T	0.26159	0.0638	M	0.87547	2.89	0.09310	N	1	B	0.25206	0.12	B	0.26094	0.066	T	0.40572	-0.9556	10	0.62326	D	0.03	.	1.3662	0.02202	0.301:0.276:0.2986:0.1245	.	49	Q9UL19	TIG3_HUMAN	N	49	ENSP00000402943:S49N;ENSP00000255688:S49N;ENSP00000346431:S49N	ENSP00000255688:S49N	S	+	2	0	RARRES3	63068696	0.977000	0.34250	0.000000	0.03702	0.008000	0.06430	1.927000	0.40094	-0.643000	0.05473	0.655000	0.94253	AGT		TCGA-RB-A7B8-01A-12D-A33T-08	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	0	0	0	27	1096	0	158	1	9.337539e-01	3	182	0	158	2		0	0	0	0	0	2	1	9.999999e-01	27	1077	0	153	2		0	0	0	0	158	2	-2.943408	1	1	0	0		1	0	1	1	1.944752	0	0.270000	2.180000	0.268024	0.170000	1.100000e-01	0.250000	0.180000	0.183419	0.170000	0	0.140000	0.220000
NAA40	79829	broad.mit.edu	37	11	63721522	63721522	+	Splice_Site	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:63721522G>A	ENST00000377793.4	+	7	673		c.e7+1		NAA40_ENST00000539656.1_Splice_Site|NAA40_ENST00000542163.1_Splice_Site|NAA40_ENST00000456907.2_Splice_Site	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit			5					AAGCGTTGCAGTAAGGAGCTG	0.512000																								0							SO:0001630	splice_region_variant			ENST00000377793.4	0	1	hg19	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596843	0.86953	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6823	0.88247	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAA40	63478098	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.436000	0.97532	2.474000	0.83562	0.462000	0.41574	.		TCGA-RB-A7B8-01A-12D-A33T-08	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	0	0	0	5	598	0	103	0	3.406511e-04	0	3	0	103	2		0	0	0	0	0	2	1	9.369527e-01	5	595	0	103	2		0	0	0	0	103	2	-2.540337	1	1	0	0		1	0	1	1	1.644030	1	0.270000	2.180000	0.156069	0.050000	1.000000e-02	0.120000	0.050000	0.062968	0.050000	0	0.030000	0.090000
CCDC88B	283234	broad.mit.edu	37	11	64120219	64120219	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:64120219C>T	ENST00000356786.5	+	20	3404	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	p.H1120H(1)		27					ATCCCAGGCACGAGCAGCTGC	0.677000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000356786.5	1	1	hg19	CCDS8072.2																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	1	0	1	36	233	0	27	1	9.577772e-01	6	30	0	27	2		0	0	0	0	0	2	1	1	36	231	0	26	2		0	0	0	0	27	2	-16.957830	1	1	121318	2	32	1	0	0	0	1.939489	0	0.270000	2.180000	0.266037	0.980000	7.100000e-01	1.000000	1.000000	0.937229	0.980000	1	0.830000	1.000000
SCYL1	57410	broad.mit.edu	37	11	65299135	65299135	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:65299135G>A	ENST00000270176.5	+	8	1174	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	SCYL1_ENST00000524944.1_Missense_Mutation_p.R366H|SCYL1_ENST00000279270.6_Missense_Mutation_p.R366H|SCYL1_ENST00000527009.1_Missense_Mutation_p.R223H|SCYL1_ENST00000420247.2_Missense_Mutation_p.R366H|SCYL1_ENST00000525364.1_Missense_Mutation_p.R366H|SCYL1_ENST00000533862.1_Missense_Mutation_p.R366H	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)			2					CGGGCCATGCGCATCCGCCTC	0.617000																								0							SO:0001583	missense			ENST00000270176.5	0	1	hg19	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925405	0.92319	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.179297	0.45361	D	0.000375	T	0.74473	0.3721	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;0.998	D;D;D;D;P	0.75484	0.949;0.986;0.981;0.928;0.85	T	0.80327	-0.1429	10	0.87932	D	0	-8.8898	16.593	0.84772	0.0:0.0:1.0:0.0	.	366;366;366;366;366	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	H	366;366;366;366;366;366;366;366;223	ENSP00000270176:R366H;ENSP00000431635:R366H;ENSP00000408192:R366H;ENSP00000437254:R366H;ENSP00000433450:R366H;ENSP00000279270:R366H;ENSP00000432175:R366H;ENSP00000436993:R223H	ENSP00000270176:R366H	R	+	2	0	SCYL1	65055711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.515000	0.90548	2.609000	0.88269	0.650000	0.86243	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	0	0	0	5	230	0	26	0	7.861242e-01	0	133	0	26	2		0	0	0	0	0	2	1	9.360826e-01	5	227	0	26	2		0	0	0	0	26	2	-3.762525	1	1	121188	2	36	1	0	0	0	1.939489	0	0.270000	2.180000	0.266037	0.160000	6.000000e-02	0.340000	0.160000	0.184337	0.160000	0	0.100000	0.250000
MYEOV	26579	broad.mit.edu	37	11	69063478	69063478	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:69063478G>A	ENST00000308946.3	+	3	1011	c.561G>A	c.(559-561)cgG>cgA	p.R187R	MYEOV_ENST00000535407.1_Silent_p.R129R|MYEOV_ENST00000441339.2_Silent_p.R187R	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed			24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)		TGCATGGGCGGCATGGGCTCT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000308946.3	0	1	hg19	CCDS8190.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1	0	0	0	6	816	0	137	0	3.168449e-01	0	136	0	137	2		0	0	0	0	0	2	1	9.645090e-01	7	811	0	134	2		0	0	0	0	137	2	-1.887318	0	1	0	0		1	0	0	0	1.939489	0	0.270000	2.180000	0.266037	0.050000	1.000000e-02	0.110000	0.060000	0.062401	0.050000	0	0.030000	0.090000
ATP2A2	488	broad.mit.edu	37	12	110778541	110778541	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:110778541C>T	ENST00000539276.2	+	14	1948	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C	ATP2A2_ENST00000395494.2_Silent_p.C586C|ATP2A2_ENST00000308664.6_Silent_p.C613C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2			38					TGAAGCTGTGCCGGCAAGCAG	0.572000																								0		GRCh37	CM014166	ATP2A2	M		SO:0001819	synonymous_variant			ENST00000539276.2	0	1	hg19	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231362	0.22626	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.93	-0.83	0.10792	.	.	.	.	.	T	0.63954	0.2555	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61178	-0.7115	4	.	.	.	.	12.8976	0.58108	0.0:0.5245:0.0:0.4755	.	.	.	.	S	504	.	.	P	+	1	0	ATP2A2	109262924	0.928000	0.31464	0.994000	0.49952	0.973000	0.67179	0.080000	0.14802	-0.056000	0.13221	-0.126000	0.14955	CCG		TCGA-RB-A7B8-01A-12D-A33T-08	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	0	0	0	5	554	1	65	0	2.619409e-04	0	189	1	65	11		0	0	0	0	0	2	0	7.149995e-05	5	550	1	64	26		0	0	0	1	65	2	-2.051129	0	1	0	0		1	1	2	3	1.996640	0	0.270000	2.180000	0.279724	0.070000	2.000000e-02	1.000000	0.070000	0.154353	0.070000	0	0.040000	0.130000
TMEM132D	121256	broad.mit.edu	37	12	129558549	129558549	+	Silent	SNP	G	G	A	rs74724941	by1000genomes	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:129558549G>A	ENST00000422113.2	-	9	3497	c.3171C>T	c.(3169-3171)gaC>gaT	p.D1057D	TMEM132D_ENST00000389441.4_Silent_p.D595D	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	p.D1057E(1)		152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)			TGGGGTACTCGTCGTCTGAGG	0.512000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000422113.2	1	0	hg19	CCDS9266.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	1	0	1	57	506	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	57	503	0	98	2		0	0	0	0	99	2	-12.552980	1	1	121412	82	52	1	1	2	3	1.996640	0	0.270000	2.180000	0.279724	0.760000	5.800000e-01	1.000000	0.760000	0.785594	0.760000	0	0.670000	0.900000
PGAM5	192111	broad.mit.edu	37	12	133294121	133294121	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:133294121C>A	ENST00000498926.2	+	3	525	c.467C>A	c.(466-468)aCc>aAc	p.T156N	PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000543955.1_Missense_Mutation_p.T7N|PGAM5_ENST00000317555.2_Missense_Mutation_p.T156N|PGAM5_ENST00000454808.2_Missense_Mutation_p.T7N	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5			5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				GCCATAGAGACCACCGATATC	0.632000																								0							SO:0001583	missense			ENST00000498926.2	1	1	hg19	CCDS53845.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019366	0.75275	.	.	ENSG00000247077	ENST00000317555;ENST00000498926;ENST00000543955;ENST00000454808	T;D	0.88896	-0.78;-2.44	5.6	5.6	0.85130	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.97225	0.9093	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.98593	1.0655	10	0.87932	D	0	-3.1057	19.6338	0.95721	0.0:1.0:0.0:0.0	.	156;156	Q96HS1;Q96HS1-2	PGAM5_HUMAN;.	N	156;156;7;7	ENSP00000321503:T156N;ENSP00000438465:T156N	ENSP00000321503:T156N	T	+	2	0	PGAM5	131804194	1.000000	0.71417	0.978000	0.43139	0.113000	0.19764	7.255000	0.78338	2.636000	0.89361	0.591000	0.81541	ACC		TCGA-RB-A7B8-01A-12D-A33T-08	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	1	0	0	28	203	0	28	1	9.156384e-01	7	25	0	28	2		0	0	0	0	0	2	1	1	28	202	0	27	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	1	2	3	1.996640	0	0.270000	2.180000	0.279724	0.920000	6.300000e-01	1.000000	1.000000	0.898751	0.920000	1	0.760000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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-RB-A7B8-01A-12D-A33T-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	11	100	0	11	1	4.031158e-01	4	8	0	11	2	1	9.999997e-01	41	302	0	285	2	1	9.982984e-01	11	96	0	11	2	1	1	1667	6368	0	11	2	-7.059248	1	1	0	0		1	1	2	3	1.990823	0	0.270000	2.180000	0.278763	0.770000	4.100000e-01	1.000000	1.000000	0.775878	0.770000	0	0.570000	1.000000
DENND5B	160518	broad.mit.edu	37	12	31577541	31577541	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:31577541C>T	ENST00000389082.5	-	10	2583	c.2319G>A	c.(2317-2319)gaG>gaA	p.E773E	DENND5B_ENST00000536562.1_Silent_p.E808E|DENND5B_ENST00000306833.6_Silent_p.E808E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B			38					AGGTGTTCTCCTCCAGGCCGG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000389082.5	1	1	hg19	CCDS44857.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	1	0	0	30	606	0	107	0	1.361586e-02	0	4	0	107	2		0	0	0	0	0	2	1	1	30	601	0	107	2		0	0	0	0	107	2	-3.295405	1	1	0	0		1	1	2	3	1.990823	0	0.270000	2.180000	0.278763	0.360000	2.400000e-01	1.000000	0.350000	0.409151	0.360000	0	0.290000	0.450000
SLC6A13	6540	broad.mit.edu	37	12	346453	346453	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:346453C>T	ENST00000343164.4	-	6	619	c.567G>A	c.(565-567)cgG>cgA	p.R189R	SLC6A13_ENST00000445055.2_Silent_p.R97R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13			28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		TCAAGACCCGCCGCCTGGGGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000343164.4	0	1	hg19	CCDS8502.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	0	0	0	5	436	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	9.356030e-01	5	430	0	66	2		0	0	0	0	69	2	-3.217084	1	1	0	0		1	1	2	3	1.977682	0	0.270000	2.180000	0.276834	0.090000	2.000000e-02	1.000000	0.080000	0.150814	0.090000	0	0.050000	0.150000
CNTN1	1272	broad.mit.edu	37	12	41422975	41422975	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:41422975G>A	ENST00000551295.2	+	23	3051	c.2934G>A	c.(2932-2934)gcG>gcA	p.A978A	CNTN1_ENST00000347616.1_Silent_p.A978A|CNTN1_ENST00000348761.2_Silent_p.A967A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1			90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)			AGGTTCGCGCGCACAGTGATG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000551295.2	0	1	hg19	CCDS8737.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	0	0	0	7	840	0	130	0	4.382955e-02	0	34	0	130	2		0	0	0	0	0	2	1	9.803857e-01	9	835	0	130	2		0	0	0	0	130	2	-1.777108	0	1	121412	2	36	1	1	2	3	1.990823	0	0.270000	2.180000	0.278763	0.060000	2.000000e-02	1.000000	0.060000	0.138051	0.060000	0	0.040000	0.110000
ADAMTS20	80070	broad.mit.edu	37	12	43860592	43860592	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:43860592A>G	ENST00000389420.3	-	9	1229	c.1230T>C	c.(1228-1230)ggT>ggC	p.G410G	ADAMTS20_ENST00000553158.1_Silent_p.G410G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20			95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)			CATGTTGAACACCAAGTCTAA	0.294000																								0							SO:0001819	synonymous_variant			ENST00000389420.3	1	1	hg19	CCDS31778.2																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	1	0	0	22	201	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	9.999990e-01	23	199	0	47	2		0	0	0	0	47	2	-20.000000	1	1	0	0		1	1	2	3	1.990823	0	0.270000	2.180000	0.278763	0.750000	4.800000e-01	1.000000	1.000000	0.770766	0.750000	0	0.610000	0.960000
COQ10A	93058	broad.mit.edu	37	12	56662938	56662938	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:56662938G>A	ENST00000308197.5	+	3	638	c.377G>A	c.(376-378)cGt>cAt	p.R126H	RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Missense_Mutation_p.R109H|COQ10A_ENST00000433805.2_Missense_Mutation_p.R94H	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)			8					GTATCCAGCCGTAAGGGTCAT	0.512000																								0							SO:0001583	missense			ENST00000308197.5	0	1	hg19	CCDS41796.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436623	0.96168	.	.	ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544	T;T;T	0.26810	1.71;1.73;1.73	5.33	5.33	0.75918	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	L	0.54965	1.715	0.80722	D	1	P;P;P	0.47350	0.87;0.894;0.894	B;B;B	0.41571	0.245;0.258;0.36	T	0.06643	-1.0815	10	0.54805	T	0.06	.	18.1779	0.89767	0.0:0.0:1.0:0.0	.	109;131;126	Q96MF6-2;Q8TAL2;Q96MF6	.;.;CQ10A_HUMAN	H	126;94;109	ENSP00000312587:R126H;ENSP00000407843:R94H;ENSP00000446723:R109H	ENSP00000312587:R126H	R	+	2	0	COQ10A	54949205	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.651000	0.83577	2.665000	0.90641	0.561000	0.74099	CGT		TCGA-RB-A7B8-01A-12D-A33T-08	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	0	0	0	7	627	1	92	0	1.845335e-02	0	16	1	92	2		0	0	0	0	0	2	0	3.580266e-03	8	624	1	90	22		0	0	0	1	92	2	-2.221341	0	1	120890	1	36	1	1	2	3	1.990823	0	0.270000	2.180000	0.278763	0.080000	3.000000e-02	1.000000	0.080000	0.159810	0.080000	0	0.050000	0.140000
ZNF384	171017	broad.mit.edu	37	12	6782390	6782390	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:6782390C>T	ENST00000396801.3	-	7	1110	c.903G>A	c.(901-903)caG>caA	p.Q301Q	ZNF384_ENST00000361959.3_Silent_p.Q301Q|ZNF384_ENST00000396799.2_Silent_p.Q301Q|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000355772.4_Silent_p.Q246Q|ZNF384_ENST00000396795.1_Silent_p.Q301Q|ZNF384_ENST00000319770.3_Silent_p.Q285Q	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384		EWSR1/ZNF384(4)	18					ACCGGGTGTGCTGCTGAAGGT	0.542000			T	EWSR1, TAF15 	ALL										Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0							SO:0001819	synonymous_variant			ENST00000396801.3	0	1	hg19	CCDS44817.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1	0	0	0	4	159	0	21	0	4.942079e-01	0	58	0	21	2		0	0	0	0	0	2	1	8.913573e-01	4	159	0	20	2		0	0	0	0	21	2	-6.060673	1	1	0	0		1	1	2	3	1.977682	0	0.270000	2.180000	0.276834	0.210000	6.000000e-02	1.000000	0.190000	0.266299	0.210000	0	0.120000	0.350000
CD163L1	283316	broad.mit.edu	37	12	7559219	7559219	+	Silent	SNP	G	G	A	rs143012538		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:7559219G>A	ENST00000313599.3	-	5	1053	c.996C>T	c.(994-996)tcC>tcT	p.S332S	CD163L1_ENST00000396630.1_Silent_p.S332S|CD163L1_ENST00000416109.2_Silent_p.S342S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1			96					ATTCATTACCGGAGCAGGAGA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000313599.3	0	1	hg19	CCDS8577.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	0	0	0	6	436	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	9.649694e-01	6	434	0	69	2		0	0	0	0	70	2	-2.708902	1	1	121412	6	40	1	1	2	3	1.977682	0	0.270000	2.180000	0.276834	0.110000	4.000000e-02	1.000000	0.100000	0.166409	0.110000	0	0.070000	0.170000
SAP18	10284	broad.mit.edu	37	13	21721345	21721345	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:21721345C>T	ENST00000607003.1	+	4	358	c.326C>T	c.(325-327)aCc>aTc	p.T109I	SAP18_ENST00000382533.4_Missense_Mutation_p.T128I			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa			6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)			ATTGGCAGCACCATGTCTGGC	0.433000																								0							SO:0001583	missense			ENST00000607003.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.36	3.813017	0.70912	.	.	ENSG00000150459	ENST00000382533	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	M	0.69185	2.1	0.80722	D	1	B	0.27823	0.19	B	0.41666	0.363	T	0.70572	-0.4835	9	0.40728	T	0.16	-22.1376	20.2033	0.98269	0.0:1.0:0.0:0.0	.	109	O00422	SAP18_HUMAN	I	128	.	ENSP00000371973:T128I	T	+	2	0	SAP18	20619345	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.640000	0.83355	2.779000	0.95612	0.655000	0.94253	ACC		TCGA-RB-A7B8-01A-12D-A33T-08	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	0	0	0	6	601	0	94	1	9.838105e-01	13	750	0	94	2		0	0	0	0	0	2	1	9.647541e-01	7	598	0	94	2		0	0	0	0	94	2	-2.915686	1	1	0	0		1	0	0	0	1.939761	0	0.270000	2.180000	0.266037	0.070000	2.000000e-02	0.150000	0.080000	0.084307	0.070000	0	0.040000	0.110000
CCNA1	8900	broad.mit.edu	37	13	37007204	37007204	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:37007204G>A	ENST00000255465.4	+	2	407	c.143G>A	c.(142-144)aGc>aAc	p.S48N	CCNA1_ENST00000440264.1_Missense_Mutation_p.S4N|CCNA1_ENST00000449823.1_Missense_Mutation_p.S4N|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Missense_Mutation_p.S47N			P78396	CCNA1_HUMAN	cyclin A1			35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		ATGCACTGCAGCAACCCCAAG	0.602000																								0							SO:0001583	missense			ENST00000255465.4	1	1	hg19	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311316	0.40895	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.17370	2.43;2.43;2.28;2.29	4.63	2.86	0.33363	.	0.954771	0.08588	N	0.923463	T	0.18173	0.0436	L	0.54323	1.7	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.002	T	0.27839	-1.0062	10	0.40728	T	0.16	.	7.931	0.29901	0.1899:0.0:0.8101:0.0	.	47;48	P78396-2;P78396	.;CCNA1_HUMAN	N	4;4;47;48	ENSP00000400666:S4N;ENSP00000409873:S4N;ENSP00000396479:S47N;ENSP00000255465:S48N	ENSP00000255465:S48N	S	+	2	0	CCNA1	35905204	0.291000	0.24352	0.014000	0.15608	0.121000	0.20230	0.587000	0.23909	0.466000	0.27193	0.555000	0.69702	AGC		TCGA-RB-A7B8-01A-12D-A33T-08	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	0	0	0	11	517	0	67	0	0	0	1	0	67	2		0	0	0	0	0	2	1	9.982546e-01	11	511	0	66	2		0	0	0	0	67	2	-2.902034	1	1	0	0		1	0	0	0	1.939761	0	0.270000	2.180000	0.266037	0.150000	7.000000e-02	0.260000	0.150000	0.165940	0.150000	0	0.110000	0.210000
POSTN	10631	broad.mit.edu	37	13	38145544	38145544	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:38145544A>T	ENST00000379747.4	-	18	2258	c.2141T>A	c.(2140-2142)aTt>aAt	p.I714N	POSTN_ENST00000541179.1_Missense_Mutation_p.I687N|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379749.4_Missense_Mutation_p.I714N|POSTN_ENST00000379743.4_Missense_Mutation_p.I687N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor			59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)			ACCTTCTTTAATCAGTCTGAA	0.383000																								0							SO:0001583	missense			ENST00000379747.4	1	1	hg19	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444763	0.63178	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743	D;D;D;D	0.93712	-3.26;-3.13;-3.16;-3.27	5.49	1.61	0.23674	.	0.628327	0.15902	N	0.239022	D	0.91533	0.7326	L	0.36672	1.1	0.38885	D	0.956994	P;P;P	0.52692	0.523;0.955;0.93	B;P;P	0.54312	0.248;0.748;0.629	D	0.88467	0.3059	10	0.72032	D	0.01	-1.7243	6.9327	0.24449	0.74:0.1263:0.1337:0.0	.	687;687;714	B1ALD8;Q15063-3;Q15063	.;.;POSTN_HUMAN	N	687;714;714;687	ENSP00000437959:I687N;ENSP00000369073:I714N;ENSP00000369071:I714N;ENSP00000369067:I687N	ENSP00000369067:I687N	I	-	2	0	POSTN	37043544	0.980000	0.34600	0.107000	0.21349	0.993000	0.82548	2.741000	0.47426	0.108000	0.17862	0.477000	0.44152	ATT		TCGA-RB-A7B8-01A-12D-A33T-08	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	1	0	1	61	391	0	72	0	1	0	523	0	72	2		0	0	0	0	0	2	1	1	61	390	0	71	2		0	0	0	0	72	2	-20.000000	1	1	0	0		1	0	0	0	1.939761	0	0.270000	2.180000	0.266037	0.980000	7.700000e-01	1.000000	1.000000	0.952952	0.980000	1	0.870000	1.000000
PCDH17	27253	broad.mit.edu	37	13	58208306	58208306	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:58208306C>T	ENST00000377918.3	+	1	1652	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17			120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)			CCTTTAACTTCGAGCAGACCA	0.582000													Melanoma(72;952 1291 1619 12849 33676)											0							SO:0001819	synonymous_variant			ENST00000377918.3	1	1	hg19	CCDS31986.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	0	0	0	10	311	0	56	0	1.699687e-02	0	6	0	56	2		0	0	0	0	0	2	1	9.968018e-01	10	307	0	54	2		0	0	0	0	56	2	-10.470270	1	1	0	0		1	0	0	0	1.939761	0	0.270000	2.180000	0.266037	0.230000	1.100000e-01	0.400000	0.230000	0.248752	0.230000	0	0.170000	0.320000
SGPP1	81537	broad.mit.edu	37	14	64152974	64152974	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64152974C>T	ENST00000247225.6	-	3	1269	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1			10					GAAGATTTTGCAGGCTAAAGG	0.378000																								0							SO:0001583	missense			ENST00000247225.6	0	1	hg19	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600744	0.46423	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67581	-0.5634	9	0.02654	T	1	-10.149	20.6593	0.99626	0.0:1.0:0.0:0.0	.	392	Q9BX95	SGPP1_HUMAN	Y	392	.	ENSP00000247225:C392Y	C	-	2	0	SGPP1	63222727	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.416000	0.80143	2.885000	0.99019	0.655000	0.94253	TGC		TCGA-RB-A7B8-01A-12D-A33T-08	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	0	0	0	5	469	0	85	0	4.633913e-02	0	26	0	85	2		0	0	0	0	0	2	1	9.368026e-01	5	466	0	85	2		0	0	0	0	85	2	-2.011348	0	1	0	0		1	0	0	0	1.943466	0	0.270000	2.180000	0.266037	0.080000	2.000000e-02	0.170000	0.080000	0.092330	0.080000	0	0.050000	0.130000
SYNE2	23224	broad.mit.edu	37	14	64685207	64685207	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64685207C>T	ENST00000344113.4	+	108	19777	c.19565C>T	c.(19564-19566)gCc>gTc	p.A6522V	SYNE2_ENST00000357395.3_Missense_Mutation_p.A2907V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					GGGGGACTGGCCGGTATCACA	0.527000																								0							SO:0001583	missense			ENST00000344113.4	0	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028348	0.35797	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.47177	0.86;4.09;0.85;4.15;4.09;3.72;3.25;2.92;2.74	4.83	4.83	0.62350	.	0.300803	0.23782	N	0.044608	T	0.42743	0.1216	L	0.55481	1.735	0.80722	D	1	B;B;B;B;B;B;P	0.38048	0.03;0.03;0.107;0.107;0.009;0.192;0.616	B;B;B;B;B;B;B	0.34824	0.01;0.033;0.061;0.023;0.01;0.082;0.19	T	0.45833	-0.9234	10	0.51188	T	0.08	.	13.2847	0.60237	0.0:1.0:0.0:0.0	.	179;2907;53;179;910;6522;6545	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	V	6545;2907;6522;3179;2907;400;305;179;53	ENSP00000350719:A6545V;ENSP00000349969:A2907V;ENSP00000341781:A6522V;ENSP00000450831:A3179V;ENSP00000378249:A2907V;ENSP00000451009:A400V;ENSP00000450605:A305V;ENSP00000391937:A179V;ENSP00000396794:A53V	ENSP00000341781:A6522V	A	+	2	0	SYNE2	63754960	0.417000	0.25432	0.013000	0.15412	0.004000	0.04260	1.003000	0.29809	2.489000	0.83994	0.561000	0.74099	GCC		TCGA-RB-A7B8-01A-12D-A33T-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	0	0	0	5	198	0	39	0	6.332597e-01	0	80	0	39	2		0	0	0	0	0	2	1	9.366879e-01	5	195	0	38	2		0	0	0	0	39	2	-3.153617	1	1	121410	3	34	1	0	0	0	1.943466	0	0.270000	2.180000	0.266037	0.190000	7.000000e-02	0.390000	0.180000	0.212716	0.190000	0	0.120000	0.290000
CCDC88C	440193	broad.mit.edu	37	14	91760540	91760540	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:91760540G>A	ENST00000389857.6	-	23	4175	c.4089C>T	c.(4087-4089)taC>taT	p.Y1363Y		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C			24		all_cancers(154;0.0468)			GCTCCTCATGGTACTGCTCCT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000389857.6	1	1	hg19	CCDS45151.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1	146	737	0	127	0	4.548277e-01	0	9	0	127	2		0	0	0	0	0	2	1	1	146	731	0	127	2		0	0	0	0	127	2	-20.000000	1	1	0	0		1	0	0	0	1.943466	0	0.270000	2.180000	0.266037	0.990000	9.900000e-01	1.000000	1.000000	0.999834	0.990000	1	0.990000	1.000000
IGDCC3	9543	broad.mit.edu	37	15	65622967	65622967	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:65622967G>A	ENST00000327987.4	-	10	1925	c.1674C>T	c.(1672-1674)taC>taT	p.Y558Y	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3			30					TTGCTGGGCGGTAAAACAGCT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000327987.4	0	1	hg19	CCDS10205.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	0	0	0	5	417	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	9.375019e-01	5	416	0	58	2		0	0	0	0	58	2	-2.953612	1	1	121410	1	30	1	1	2	3	2.085874	1	0.270000	2.180000	0.319601	0.120000	3.000000e-02	1.000000	0.100000	0.325830	0.120000	0	0.060000	1.000000
LRRC28	123355	broad.mit.edu	37	15	99874263	99874263	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:99874263G>A	ENST00000301981.3	+	6	761	c.521G>A	c.(520-522)cGc>cAc	p.R174H	LRRC28_ENST00000447360.2_Missense_Mutation_p.R174H|LRRC28_ENST00000442993.2_Silent_p.A142A|LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000559399.1_3'UTR	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28			12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)		TATGTGCCGCGCCATCTCTGC	0.488000																								0							SO:0001583	missense			ENST00000301981.3	0	1	hg19	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047388	0.93740	.	.	ENSG00000168904	ENST00000301981;ENST00000447360	T;T	0.29655	1.56;1.56	5.83	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	L	0.59436	1.845	0.80722	D	1	D;B	0.89917	1.0;0.027	D;B	0.79784	0.993;0.007	T	0.42172	-0.9467	10	0.48119	T	0.1	.	14.4478	0.67364	0.0716:0.0:0.9284:0.0	.	174;174	Q86X40-2;Q86X40	.;LRC28_HUMAN	H	174	ENSP00000304923:R174H;ENSP00000404520:R174H	ENSP00000304923:R174H	R	+	2	0	LRRC28	97691786	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.304000	0.78882	2.775000	0.95449	0.585000	0.79938	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	0	0	0	7	526	0	57	0	7.368039e-02	0	29	0	57	2		0	0	0	0	0	2	1	9.800675e-01	7	521	0	56	2		0	0	0	0	57	2	-2.392077	0	1	121412	2	34	1	1	2	3	2.092368	0	0.270000	2.180000	0.310052	0.120000	4.000000e-02	1.000000	0.100000	0.326534	0.120000	0	0.070000	1.000000
SMG1	23049	broad.mit.edu	37	16	18841673	18841673	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:18841673G>A	ENST00000446231.2	-	52	9223	c.8811C>T	c.(8809-8811)taC>taT	p.Y2937Y	SMG1_ENST00000389467.3_Silent_p.Y2937Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase			92					TTAATTCACCGTACTGAGCAT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000446231.2	0	1	hg19	CCDS45430.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	0	0	0	4	182	0	39	0	2.041713e-02	0	8	0	39	2		0	0	0	0	0	2	1	8.887143e-01	4	180	0	39	2		0	0	0	0	39	2	-3.141551	1	1	120822	7	39	1	1	2	3	1.969257	0	0.270000	2.180000	0.274894	0.180000	5.000000e-02	1.000000	0.160000	0.226085	0.180000	0	0.100000	0.300000
PRSS21	10942	broad.mit.edu	37	16	2871460	2871460	+	Missense_Mutation	SNP	C	C	T	rs146520280	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:2871460C>T	ENST00000005995.3	+	6	841	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Missense_Mutation_p.R253W|PRSS21_ENST00000455114.1_Missense_Mutation_p.R265W			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)			15					TCGGCCCAATCGGCCCGGTGT	0.592000																								0							SO:0001583	missense			ENST00000005995.3	1	0	hg19	CCDS10478.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	c	12.48	1.950839	0.34471	0.012284	0.0	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	D;D;D	0.89746	-2.56;-2.56;-2.56	3.96	1.92	0.25849	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.81992	0.4940	L	0.51853	1.615	0.19775	N	0.999955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.991;0.991	T	0.77043	-0.2734	9	0.72032	D	0.01	.	10.2025	0.43094	0.3607:0.6393:0.0:0.0	.	267;265;253	Q9Y6M0;Q9Y6M0-2;Q9Y6M0-3	TEST_HUMAN;.;.	W	265;253;267	ENSP00000400632:R265W;ENSP00000407741:R253W;ENSP00000005995:R267W	ENSP00000005995:R267W	R	+	1	2	PRSS21	2811461	0.000000	0.05858	0.627000	0.29227	0.396000	0.30629	0.525000	0.22956	0.327000	0.23409	-0.333000	0.08304	CGG		TCGA-RB-A7B8-01A-12D-A33T-08	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	1	0	0	11	272	0	52	1	2.074124e-01	2	18	0	52	2		0	0	0	0	0	2	1	9.982575e-01	11	267	0	50	2		0	0	0	0	52	2	-12.202280	1	1	121412	147	52	1	1	2	3	1.985305	0	0.270000	2.180000	0.277800	0.300000	1.500000e-01	1.000000	0.290000	0.356613	0.300000	0	0.220000	0.430000
C16orf93	90835	broad.mit.edu	37	16	30768893	30768893	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:30768893C>T	ENST00000543610.1	-	9	1861	c.900G>A	c.(898-900)cgG>cgA	p.R300R	C16orf93_ENST00000541260.1_Silent_p.R365R|PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93			11					TGGCCTTGAGCCGCTCCTCCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000543610.1	0	1	hg19	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	C	4.971	0.180321	0.09443	.	.	ENSG00000196118	ENST00000535476	.	.	.	5.97	2.97	0.34412	.	.	.	.	.	T	0.54447	0.1859	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	T	0.45071	-0.9286	4	.	.	.	-7.5983	6.1942	0.20540	0.0:0.6832:0.1532:0.1635	.	.	.	.	D	167	.	.	G	-	2	0	C16orf93	30676394	0.922000	0.31269	0.134000	0.22075	0.562000	0.35680	0.541000	0.23207	0.421000	0.25980	0.655000	0.94253	GGC		TCGA-RB-A7B8-01A-12D-A33T-08	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	0	0	0	5	689	0	107	0	6.211975e-03	0	13	0	107	2		0	0	0	0	0	2	1	9.363032e-01	6	682	0	106	2		0	0	0	0	107	2	-2.762985	1	1	0	0		1	0	0	0	1.944391	0	0.270000	2.180000	0.266037	0.050000	1.000000e-02	0.120000	0.060000	0.063236	0.050000	0	0.030000	0.090000
ZNF646	9726	broad.mit.edu	37	16	31089682	31089682	+	Silent	SNP	C	C	T	rs145751871		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:31089682C>T	ENST00000394979.2	+	1	2460	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	ZNF646_ENST00000300850.5_Silent_p.G679G			O15015	ZN646_HUMAN	zinc finger protein 646			49					AGCGGGCTGGCGGTGCCAGCG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000394979.2	0	1	hg19																																																																																					TCGA-RB-A7B8-01A-12D-A33T-08	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	0	0	0	5	351	0	66	0	1.044397e-02	0	9	0	66	2		0	0	0	0	0	2	0	2.377141e-03	5	346	1	62	19		0	0	0	0	66	2	-3.120263	1	1	121294	5	37	1	0	0	0	1.944391	0	0.270000	2.180000	0.266037	0.110000	3.000000e-02	0.230000	0.100000	0.122524	0.110000	0	0.060000	0.170000
PRPF8	10594	broad.mit.edu	37	17	1585571	1585571	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:1585571G>A	ENST00000572621.1	-	3	551	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P96S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8			77					ACTGCGTGGGGCATGTACTTT	0.507000																								0							SO:0001583	missense			ENST00000572621.1	0	1	hg19	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656010	0.88056	.	.	ENSG00000174231	ENST00000304992	T	0.67698	-0.28	5.6	5.6	0.85130	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	D	0.86859	0.6034	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89501	0.3764	10	0.87932	D	0	.	19.616	0.95634	0.0:0.0:1.0:0.0	.	96	Q6P2Q9	PRP8_HUMAN	S	96	ENSP00000304350:P96S	ENSP00000304350:P96S	P	-	1	0	PRPF8	1532321	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.314000	0.96306	2.642000	0.89623	0.555000	0.69702	CCC		TCGA-RB-A7B8-01A-12D-A33T-08	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	0	0	0	5	462	0	69	0	5.754962e-02	0	29	0	69	2		0	0	0	0	0	2	1	9.367921e-01	5	459	0	68	2		0	0	0	0	69	2	-2.358297	0	1	0	0		1	0	0	0	1.929070	0	0.270000	2.180000	0.260010	0.080000	2.000000e-02	0.170000	0.080000	0.092919	0.080000	0	0.050000	0.130000
FAM83G	644815	broad.mit.edu	37	17	18874844	18874844	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:18874844G>A	ENST00000388995.6	-	6	2523	c.2300C>T	c.(2299-2301)gCc>gTc	p.A767V	FAM83G_ENST00000585154.2_Missense_Mutation_p.A767V|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A767V|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G			22					CATGGGGCGGGCATTTTGGGC	0.652000																								0							SO:0001583	missense			ENST00000388995.6	0	1	hg19	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	7.947	0.743933	0.15642	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12039	2.72;2.72	5.04	2.98	0.34508	.	1.318120	0.05124	N	0.491337	T	0.15219	0.0367	L	0.51422	1.61	0.09310	N	1	B	0.20261	0.043	B	0.19946	0.027	T	0.33085	-0.9882	10	0.23891	T	0.37	-5.5706	8.3552	0.32327	0.089:0.1598:0.7512:0.0	.	767	A6ND36	FA83G_HUMAN	V	767	ENSP00000373647:A767V;ENSP00000343279:A767V	ENSP00000343279:A767V	A	-	2	0	FAM83G	18815569	0.002000	0.14202	0.001000	0.08648	0.069000	0.16628	1.162000	0.31786	1.209000	0.43321	0.561000	0.74099	GCC		TCGA-RB-A7B8-01A-12D-A33T-08	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4	0	0	0	6	841	0	134	0	1.427627e-02	0	21	0	134	2		0	0	0	0	0	2	1	9.642563e-01	7	834	0	132	2		0	0	0	0	134	2	-2.439846	0	1	0	0		1	0	0	0	1.929070	0	0.270000	2.180000	0.260010	0.050000	1.000000e-02	0.110000	0.060000	0.060074	0.050000	0	0.030000	0.080000
HAP1	9001	broad.mit.edu	37	17	39881124	39881124	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:39881124G>A	ENST00000310778.5	-	12	1854	c.1845C>T	c.(1843-1845)agC>agT	p.S615S	JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Silent_p.S538S|HAP1_ENST00000347901.4_Silent_p.S563S|HAP1_ENST00000341193.5_Silent_p.S546S			P54257	HAP1_HUMAN	huntingtin-associated protein 1			21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)		GGCCCAAGCCGCTGGCCTCCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000310778.5	0	1	hg19																																																																																					TCGA-RB-A7B8-01A-12D-A33T-08	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	0	0	0	7	1198	0	182		0	0	0	0	182	2		0	0	0	0	0	2	1	9.797549e-01	7	1184	0	174	2		0	0	0	0	182	2	-2.363744	0	1	121412	3	42	1	1	2	3	2.003532	0	0.270000	2.180000	0.280682	0.040000	0	1.000000	0.040000	0.134225	0.040000	0	0.020000	0.080000
EZH1	2145	broad.mit.edu	37	17	40865346	40865346	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:40865346C>T	ENST00000428826.2	-	11	1206	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	EZH1_ENST00000585893.1_Missense_Mutation_p.R322Q|EZH1_ENST00000435174.1_Missense_Mutation_p.R223Q|EZH1_ENST00000590078.1_Missense_Mutation_p.R292Q|EZH1_ENST00000592743.1_Missense_Mutation_p.R362Q|EZH1_ENST00000415827.2_Missense_Mutation_p.R353Q			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit			27		Breast(137;0.00104)			GTGCCTTCTCCGGCGACGACC	0.552000																								0							SO:0001583	missense			ENST00000428826.2	0	1	hg19	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008400	0.75046	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.86030	-2.06;-2.06	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	L	0.46157	1.445	0.58432	D	0.999998	P;P;P;P;P	0.46656	0.764;0.882;0.882;0.72;0.812	B;B;B;B;B	0.35859	0.212;0.209;0.209;0.209;0.149	T	0.78558	-0.2158	10	0.22706	T	0.39	.	19.0657	0.93108	0.0:1.0:0.0:0.0	.	223;322;368;292;362	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	Q	365;362;322;223	ENSP00000404658:R362Q;ENSP00000404071:R223Q	ENSP00000264646:R365Q	R	-	2	0	EZH1	38118872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.590000	0.74085	2.734000	0.93682	0.555000	0.69702	CGG		TCGA-RB-A7B8-01A-12D-A33T-08	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	0	0	0	5	522	0	73	0	1.377477e-02	0	15	0	73	2		0	0	0	0	0	2	1	9.371887e-01	5	521	0	73	2		0	0	0	0	73	2	-2.547753	1	1	121412	1	32	1	1	2	3	2.008247	0	0.270000	2.180000	0.282591	0.080000	2.000000e-02	1.000000	0.070000	0.180439	0.080000	0	0.040000	0.140000
NFE2L1	4779	broad.mit.edu	37	17	46136986	46136986	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:46136986A>G	ENST00000362042.3	+	6	2918	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000582155.1_Missense_Mutation_p.K580E|NFE2L1_ENST00000361665.3_Missense_Mutation_p.K757E|NFE2L1_ENST00000357480.5_Missense_Mutation_p.K738E|NFE2L1_ENST00000583378.1_Missense_Mutation_p.K569E|NFE2L1_ENST00000536222.1_Missense_Mutation_p.K612E|NFE2L1_ENST00000585291.1_Missense_Mutation_p.K738E	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1			32					GAGGAAGCCAAAGGACCGGAG	0.647000																								0							SO:0001583	missense			ENST00000362042.3	1	1	hg19	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723743	0.68959	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.29142	1.9;1.58	5.89	5.89	0.94794	.	0.220853	0.48767	D	0.000174	T	0.47655	0.1457	L	0.43923	1.385	0.54753	D	0.999983	D;D;D;D	0.71674	0.994;0.989;0.958;0.998	P;P;P;D	0.75484	0.885;0.709;0.827;0.986	T	0.44847	-0.9301	10	0.66056	D	0.02	-12.13	13.8341	0.63400	1.0:0.0:0.0:0.0	.	612;580;738;768	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	E	787;768;738;612	ENSP00000350072:K738E;ENSP00000445811:K612E	ENSP00000350072:K738E	K	+	1	0	NFE2L1	43491985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.390000	0.79816	2.257000	0.74773	0.460000	0.39030	AAG		TCGA-RB-A7B8-01A-12D-A33T-08	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	1	0	0	15	187	0	28	1	9.999821e-01	17	235	0	28	2		0	0	0	0	0	2	1	9.998870e-01	15	186	0	28	2		0	0	0	0	28	2	-19.876170	1	1	0	0		1	1	2	3	2.005347	0	0.270000	2.180000	0.281637	0.580000	3.300000e-01	1.000000	0.560000	0.623008	0.580000	0	0.440000	0.800000
TRIM37	4591	broad.mit.edu	37	17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:57093004G>A	ENST00000262294.7	-	21	2802	c.2543C>T	c.(2542-2544)gCg>gTg	p.A848V	TRIM37_ENST00000376149.3_Missense_Mutation_p.A726V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	p.A848V(1)		37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)				TTTCTCAACCGCAGGCAAGCC	0.398000									Mulibrey Nanism															1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	Perheentupa syndrome	ENST00000262294.7	0	1	hg19	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661961	0.29515	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.93	2.9	0.33743	.	0.843050	0.10578	N	0.658234	T	0.21267	0.0512	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.17531	-1.0366	10	0.48119	T	0.1	-0.0368	9.163	0.37035	0.1801:0.0:0.8199:0.0	.	814;726;848	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	V	848;848;726;814	ENSP00000376785:A848V;ENSP00000262294:A848V;ENSP00000365319:A726V;ENSP00000376784:A814V	ENSP00000262294:A848V	A	-	2	0	TRIM37	54447786	0.197000	0.23362	0.437000	0.26809	0.721000	0.41392	1.507000	0.35758	1.082000	0.41137	0.313000	0.20887	GCG		TCGA-RB-A7B8-01A-12D-A33T-08	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	0	0	0	7	798	1	114	0	2.168257e-02	0	22	1	114	2		0	0	0	0	0	2	0	2.052756e-03	6	785	1	113	23		0	0	0	1	114	2	-1.937388	0	1	121412	7	43	1	1	2	3	2.005347	0	0.270000	2.180000	0.281637	0.070000	2.000000e-02	1.000000	0.070000	0.163868	0.070000	0	0.040000	0.120000
CDH2	1000	broad.mit.edu	37	18	25572669	25572669	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr18:25572669C>T	ENST00000269141.3	-	9	1717	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	CDH2_ENST00000399380.3_Missense_Mutation_p.A401T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)			82					GTCTGGATGGCGAACCGTCCA	0.532000																								0							SO:0001583	missense			ENST00000269141.3	1	1	hg19	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	3.023	-0.201263	0.06219	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.49139	0.79;0.79	5.39	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.160521	0.56097	D	0.000022	T	0.25975	0.0633	N	0.13140	0.3	0.46222	D	0.998936	B;B	0.13594	0.001;0.008	B;B	0.11329	0.003;0.006	T	0.09122	-1.0689	10	0.08381	T	0.77	.	10.1311	0.42680	0.0:0.8447:0.0:0.1553	.	401;432	A8MWK3;P19022	.;CADH2_HUMAN	T	432;401	ENSP00000269141:A432T;ENSP00000382312:A401T	ENSP00000269141:A432T	A	-	1	0	CDH2	23826667	1.000000	0.71417	0.993000	0.49108	0.455000	0.32408	3.907000	0.56348	2.674000	0.91012	0.655000	0.94253	GCC		TCGA-RB-A7B8-01A-12D-A33T-08	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	1	0	1	62	321	0	58	0	7.247729e-01	1	14	0	58	2		0	0	0	0	0	2	1	1	62	315	0	58	2		0	0	0	0	58	2	-2.934807	1	1	0	0		1	0	0	0	1.925972	0	0.270000	2.180000	0.257979	0.990000	9.200000e-01	1.000000	1.000000	0.995337	0.990000	1	0.990000	1.000000
HMHA1	23526	broad.mit.edu	37	19	1073163	1073163	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:1073163G>A	ENST00000313093.2	+	3	668	c.437G>A	c.(436-438)cGc>cAc	p.R146H	HMHA1_ENST00000590214.1_Missense_Mutation_p.R173H|HMHA1_ENST00000539243.2_Missense_Mutation_p.R162H|HMHA1_ENST00000592335.1_Missense_Mutation_p.A27T|HMHA1_ENST00000543365.1_Missense_Mutation_p.R29H|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000586866.1_Missense_Mutation_p.R150H	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1			16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			CTTGAGGCCCGCCGCCCGCGG	0.642000																								0							SO:0001583	missense			ENST00000313093.2	0	1	hg19	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225757	0.39300	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000412039;ENST00000543365	T;T;T	0.25085	1.96;1.96;1.82	4.16	4.16	0.48862	.	0.068586	0.64402	D	0.000017	T	0.43100	0.1232	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	P;D;P	0.68765	0.878;0.96;0.862	T	0.27054	-1.0085	10	0.45353	T	0.12	-29.6413	9.9138	0.41421	0.1043:0.0:0.8957:0.0	.	162;29;146	F6QP70;F5H1R4;Q92619	.;.;HMHA1_HUMAN	H	162;146;146;140;29	ENSP00000439601:R162H;ENSP00000316772:R146H;ENSP00000438979:R29H	ENSP00000316772:R146H	R	+	2	0	HMHA1	1024163	1.000000	0.71417	0.997000	0.53966	0.498000	0.33706	3.603000	0.54074	1.855000	0.53841	0.491000	0.48974	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	0	0	0	7	624	0	82	0	3.574831e-03	0	7	0	82	2		0	0	0	0	0	2	1	9.802442e-01	7	620	0	81	2		0	0	0	0	82	2	-2.442455	0	1	121228	1	33	1	1	2	3	1.996663	0	0.270000	2.180000	0.279724	0.080000	3.000000e-02	1.000000	0.080000	0.167752	0.080000	0	0.050000	0.140000
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MRPS12_ENST00000308018.4_5'UTR|MRPS12_ENST00000402029.3_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000594171.1_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial			15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		GCCCTCGCGCGCATACTCGTA	0.627000											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000221431.6	0	1	hg19	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		TCGA-RB-A7B8-01A-12D-A33T-08	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	0	0	0	7	701	1	112	0	4.441061e-03	0	27	1	112	3		0	0	0	0	0	2	0	5.429036e-03	7	695	1	112	21		0	0	0	1	112	2	-1.741208	0	1	121412	2	37	1	1	2	3	1.972107	0	0.270000	2.180000	0.275865	0.070000	2.000000e-02	1.000000	0.080000	0.126863	0.070000	0	0.040000	0.120000
ZNF606	80095	broad.mit.edu	37	19	58490664	58490664	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:58490664C>T	ENST00000341164.4	-	7	2004	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	ZNF606_ENST00000536132.1_Missense_Mutation_p.G372R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606			26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			AAGGCTTTTCCACATTTATTA	0.358000																								0							SO:0001583	missense			ENST00000341164.4	1	1	hg19	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223390	0.58668	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.01484	4.84;4.84;4.84	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000365	T	0.08935	0.0221	M	0.67517	2.055	0.53688	D	0.999976	D	0.89917	1.0	D	0.68483	0.958	T	0.01648	-1.1304	10	0.66056	D	0.02	.	16.585	0.84725	0.0:1.0:0.0:0.0	.	462	Q8WXB4	ZN606_HUMAN	R	462;372;462	ENSP00000343617:G462R;ENSP00000445624:G372R;ENSP00000446972:G462R	ENSP00000343617:G462R	G	-	1	0	ZNF606	63182476	0.976000	0.34144	1.000000	0.80357	0.997000	0.91878	2.375000	0.44283	2.515000	0.84797	0.655000	0.94253	GGA		TCGA-RB-A7B8-01A-12D-A33T-08	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	1	0	1	39	220	0	42	0	2.929391e-01	0	7	0	42	2		0	0	0	0	0	2	1	1	39	218	0	41	2		0	0	0	0	42	2	-3.153007	1	1	0	0		1	1	2	3	1.991890	0	0.270000	2.180000	0.278763	0.990000	8.300000e-01	1.000000	1.000000	0.984146	0.990000	1	0.970000	1.000000
COL11A1	1301	broad.mit.edu	37	1	103483426	103483426	+	Missense_Mutation	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:103483426G>T	ENST00000370096.3	-	11	1675	c.1363C>A	c.(1363-1365)Cct>Act	p.P455T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P339T|COL11A1_ENST00000358392.2_Missense_Mutation_p.P467T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P416T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1			258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)			AGACCTGGAGGACCCATAATA	0.418000																								0							SO:0001583	missense			ENST00000370096.3	1	1	hg19	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322302	0.60634	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-2.43;-2.43	5.38	5.38	0.77491	.	0.110223	0.64402	D	0.000005	D	0.96935	0.8999	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.995;0.991;0.994;0.997	D	0.95999	0.8992	10	0.44086	T	0.13	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	339;416;467;455	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	T	455;467;416;339;467	ENSP00000359114:P455T;ENSP00000351163:P467T;ENSP00000302551:P416T;ENSP00000426533:P339T;ENSP00000408640:P467T	ENSP00000302551:P416T	P	-	1	0	COL11A1	103256014	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.281000	0.89905	2.673000	0.90976	0.650000	0.86243	CCT		TCGA-RB-A7B8-01A-12D-A33T-08	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	1	0	1	75	473	0	69	0	9.999969e-01	0	115	0	69	2		0	0	0	0	0	2	1	1	73	467	0	69	2		0	0	0	0	69	2	-20.000000	1	1	0	0		1	1	2	3	2.068492	0	0.270000	2.180000	0.294754	0.990000	8.400000e-01	1.000000	1.000000	0.981990	0.990000	1	0.950000	1.000000
ALX3	257	broad.mit.edu	37	1	110607330	110607330	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:110607330G>A	ENST00000369792.4	-	2	560	c.473C>T	c.(472-474)aCg>aTg	p.T158M	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3			6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)			GCTGAAGGTCGTGCGGTTACG	0.597000																								0							SO:0001583	missense			ENST00000369792.4	1	1	hg19	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087698	0.76642	.	.	ENSG00000156150	ENST00000369792	D	0.97352	-4.35	4.18	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98960	0.9646	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99316	1.0905	10	0.87932	D	0	.	14.3494	0.66691	0.0:0.0:1.0:0.0	.	158	O95076	ALX3_HUMAN	M	158	ENSP00000358807:T158M	ENSP00000358807:T158M	T	-	2	0	ALX3	110408853	1.000000	0.71417	0.907000	0.35723	0.987000	0.75469	9.813000	0.99286	2.022000	0.59522	0.462000	0.41574	ACG		TCGA-RB-A7B8-01A-12D-A33T-08	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	0	0	1	112	350	1	65		0	0	0	1	65	2		0	0	0	0	0	2	1	1	112	349	1	65	22		0	0	0	1	65	2	-20.000000	1	1	0	0		1	1	2	3	2.068492	0	0.270000	2.180000	0.294754	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
FLG	2312	broad.mit.edu	37	1	152277587	152277587	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:152277587C>T	ENST00000368799.1	-	3	9810	c.9775G>A	c.(9775-9777)Gaa>Aaa	p.E3259K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GCTCTGTCTTCGTGATGGGAC	0.582000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424271	0.25639	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.02103	4.45	1.52	-3.04	0.05412	.	.	.	.	.	T	0.01287	0.0042	M	0.68317	2.08	0.09310	N	1	D	0.56287	0.975	P	0.55713	0.782	T	0.30416	-0.9979	9	0.07644	T	0.81	-0.6633	3.8186	0.08825	0.0:0.3025:0.4847:0.2128	.	3259	P20930	FILA_HUMAN	K	3259;197	ENSP00000357789:E3259K	ENSP00000357786:E197K	E	-	1	0	FLG	150544211	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.047000	0.03521	-0.855000	0.04125	-0.535000	0.04281	GAA		TCGA-RB-A7B8-01A-12D-A33T-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	1	290	2141	0	345	0	0	0	1	0	345	2		0	0	0	0	0	2	1	1	288	2115	0	343	2		0	0	0	0	345	2	-20.000000	1	1	121408	3	40	1	1	3	4	2.417547	1	0.270000	2.180000	0.413984	0.990000	9.700000e-01	1.000000	1.000000	0.998934	0.990000	1	0.990000	1.000000
AQP10	89872	broad.mit.edu	37	1	154295786	154295786	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:154295786C>T	ENST00000324978.3	+	4	480	c.440C>T	c.(439-441)gCc>gTc	p.A147V	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_Missense_Mutation_p.A147V|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10			23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		TCCATTTTTGCCACCTATCCT	0.557000																								0							SO:0001583	missense			ENST00000324978.3	0	1	hg19	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484892	0.84854	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.11930	2.73;2.73	5.04	4.12	0.48240	Aquaporin-like (2);	0.332186	0.32503	N	0.006010	T	0.19406	0.0466	M	0.83312	2.635	0.33617	D	0.604262	D;P	0.54047	0.964;0.912	P;P	0.56127	0.792;0.756	T	0.08722	-1.0708	10	0.87932	D	0	.	8.5573	0.33489	0.0:0.7645:0.1526:0.0828	.	147;147	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	V	147	ENSP00000318355:A147V;ENSP00000420341:A147V	ENSP00000318355:A147V	A	+	2	0	AQP10	152562410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.810000	0.55613	1.364000	0.46038	0.555000	0.69702	GCC		TCGA-RB-A7B8-01A-12D-A33T-08	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	0	0	0	7	753	1	113		0	0	0	1	113	2		0	0	0	0	0	2	0	3.504678e-03	7	747	1	112	22		0	0	0	1	113	2	-2.147296	0	1	0	0		1	1	3	4	2.394335	1	0.270000	2.180000	0.408859	0.090000	2.000000e-02	1.000000	0.080000	0.190216	0.090000	0	0.050000	0.160000
CELA2A	63036	broad.mit.edu	37	1	15783633	15783633	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:15783633C>T	ENST00000359621.4	+	2	118	c.93C>T	c.(91-93)ggC>ggT	p.G31G	CELA2A_ENST00000497590.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A			16					GGGTGGTTGGCGGTGAAGAAG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000359621.4	0	1	hg19	CCDS157.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	0	0	0	4	256	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	8.826125e-01	4	247	0	31	2		0	0	0	0	31	2	-2.811549	1	1	121412	4	36	1	0	1	1	1.649643	1	0.270000	2.180000	0.156069	0.100000	3.000000e-02	0.230000	0.100000	0.119738	0.100000	0	0.060000	0.170000
MYOC	4653	broad.mit.edu	37	1	171605766	171605766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:171605766G>A	ENST00000037502.6	-	3	885	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	p.R272*(1)		28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)				TTGGGGTCTCGCATCCACACA	0.512000																								1	Substitution - Nonsense(1)	GRCh37	CM005409	MYOC	M		SO:0001587	stop_gained			ENST00000037502.6	0	1	hg19	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908515	0.92107	0.0	1.16E-4	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	.	.	.	5.76	-1.13	0.09775	.	0.139314	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	16.4257	0.83814	0.0:0.0:0.6471:0.3529	.	.	.	.	X	272;225;205;272	.	ENSP00000037502:R272X	R	-	1	2	MYOC	169872389	1.000000	0.71417	0.991000	0.47740	0.951000	0.60555	1.127000	0.31357	-0.445000	0.07159	0.555000	0.69702	CGA		TCGA-RB-A7B8-01A-12D-A33T-08	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	0	0	0	7	553	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	9.804696e-01	7	551	0	67	2		0	0	0	0	67	2	-2.353732	0	1	121412	1	34	1	1	3	4	2.394335	1	0.270000	2.180000	0.408859	0.120000	4.000000e-02	1.000000	0.110000	0.220607	0.120000	0	0.080000	0.210000
CACNA1E	777	broad.mit.edu	37	1	181690939	181690939	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:181690939C>T	ENST00000367573.2	+	16	2002	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R275C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R668C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R668C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	p.R668C(2)		204					CAATGGGATCCGCTCCCAGGG	0.507000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000367573.2	1	1	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535986	0.85812	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	5.33	5.33	0.75918	.	0.048724	0.85682	N	0.000000	D	0.98413	0.9472	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	D	0.99482	1.0948	10	0.72032	D	0.01	.	18.6084	0.91275	0.0:1.0:0.0:0.0	.	668;668	Q15878-2;Q15878-3	.;.	C	668;668;619;619;275;668;668	ENSP00000356542:R668C;ENSP00000434814:R668C;ENSP00000350183:R619C;ENSP00000351101:R619C;ENSP00000356539:R275C;ENSP00000353222:R668C;ENSP00000356545:R668C	ENSP00000350183:R619C	R	+	1	0	CACNA1E	179957562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.705000	0.61838	2.465000	0.83290	0.563000	0.77884	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1	150	693	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	150	679	0	96	2		0	0	0	0	96	2	-2.991684	1	1	0	0		1	1	3	4	2.394335	1	0.270000	2.180000	0.408859	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
KLHDC8A	55220	broad.mit.edu	37	1	205307704	205307704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:205307704G>A	ENST00000367156.3	-	8	1594	c.778C>T	c.(778-780)Cga>Tga	p.R260*	KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A			14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)		AAGAACGATCGTTCCATCTTC	0.517000																								0							SO:0001587	stop_gained			ENST00000367156.3	0	1	hg19	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	38	6.698759	0.97772	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	.	.	.	5.62	5.62	0.85841	.	0.216018	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-19.0544	19.2423	0.93888	0.0:0.0:1.0:0.0	.	.	.	.	X	260;260;260;147	.	ENSP00000356123:R260X	R	-	1	2	KLHDC8A	203574327	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	5.085000	0.64468	2.642000	0.89623	0.655000	0.94253	CGA		TCGA-RB-A7B8-01A-12D-A33T-08	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	1	0	1	85	414	0	63	0	7.883851e-02	0	3	0	63	2		0	0	0	0	0	2	1	1	69	361	0	54	2		0	0	0	0	63	2	-20.000000	1	1	0	0		1	1	3	4	2.395465	1	0.270000	2.180000	0.408859	0.990000	9.900000e-01	1.000000	1.000000	0.999999	0.990000	1	0.990000	1.000000
HIST3H2BB	128312	broad.mit.edu	37	1	228646127	228646127	+	Silent	SNP	T	T	G	rs145799075	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:228646127T>G	ENST00000369160.2	+	1	320	c.297T>G	c.(295-297)gtT>gtG	p.V99V	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb			1		Prostate(94;0.183)			AGACGGCCGTTCGCCTGCTGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000369160.2	0	1	hg19	CCDS1574.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	0	0	0	7	489	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	9.800372e-01	7	484	0	70	2		0	0	0	0	71	2	-6.444935	1	1	121402	33	46	1	1	3	4	2.395465	1	0.270000	2.180000	0.408859	0.140000	5.000000e-02	1.000000	0.120000	0.235493	0.140000	0	0.090000	0.240000
SLC6A9	6536	broad.mit.edu	37	1	44468618	44468618	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:44468618A>G	ENST00000360584.2	-	6	1040	c.849T>C	c.(847-849)ttT>ttC	p.F283F	SLC6A9_ENST00000475075.2_Silent_p.F99F|SLC6A9_ENST00000357730.2_Silent_p.F229F|SLC6A9_ENST00000372306.3_Silent_p.F210F|SLC6A9_ENST00000372310.3_Silent_p.F210F|SLC6A9_ENST00000537678.1_Silent_p.F145F|SLC6A9_ENST00000372307.3_Silent_p.F145F	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9			22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)		Glycine(DB00145)	GCACCTCCCCAAAGTTCCCAA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000360584.2	1	1	hg19	CCDS41317.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	0	0	1	142	803	1	130	0	1.112019e-01	1	3	1	130	2		0	0	0	0	0	2	1	1	141	799	1	128	23		0	0	0	1	130	2	-20.000000	1	1	0	0		1	1	2	3	2.082796	1	0.270000	2.180000	0.317023	0.990000	9.900000e-01	1.000000	1.000000	0.999663	0.990000	1	0.990000	1.000000
JAG1	182	broad.mit.edu	37	20	10621878	10621878	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:10621878C>T	ENST00000254958.5	-	24	3446	c.2931G>A	c.(2929-2931)gaG>gaA	p.E977E	JAG1_ENST00000423891.2_Silent_p.E818E	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1			44					TGCAAATGTGCTCCGTAGTAA	0.408000									Alagille Syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	ENST00000254958.5	1	1	hg19	CCDS13112.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	40	281	0	41	1	9.999668e-01	18	92	0	41	2		0	0	0	0	0	2	1	1	40	277	0	41	2		0	0	0	0	41	2	-20.000000	1	1	0	0		1	1	2	3	1.954423	0	0.270000	2.180000	0.270984	0.920000	6.700000e-01	1.000000	1.000000	0.905318	0.920000	1	0.790000	1.000000
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12			36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)		CCTGCACTGGGCATTCCCGCA	0.557000																								0							SO:0001583	missense			ENST00000374114.3	0	1	hg19	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		TCGA-RB-A7B8-01A-12D-A33T-08	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	0	0	5	387	0	55	0	1.605901e-01	1	45	0	55	2		0	0	0	0	0	2	1	9.375022e-01	5	386	0	55	2		0	0	0	0	55	2	-2.184585	0	1	0	0		1	1	2	3	1.954264	0	0.270000	2.180000	0.270984	0.100000	3.000000e-02	0.220000	0.100000	0.112186	0.100000	0	0.060000	0.160000
EPB41L1	2036	broad.mit.edu	37	20	34773105	34773105	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:34773105G>A	ENST00000338074.2	+	7	794	c.633G>A	c.(631-633)acG>acA	p.T211T	EPB41L1_ENST00000441639.1_Silent_p.T149T|EPB41L1_ENST00000373950.2_Silent_p.T114T|EPB41L1_ENST00000373946.3_Silent_p.T180T|EPB41L1_ENST00000373941.1_Silent_p.T211T|EPB41L1_ENST00000202028.5_Silent_p.T149T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1			37	Breast(12;0.0239)				CCTTTGTCACGCATGCCCTAC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000338074.2	0	1	hg19	CCDS13271.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	0	0	0	5	423	0	76	0	2.654994e-01	0	72	0	76	2		0	0	0	0	0	2	1	9.355442e-01	5	417	0	75	2		0	0	0	0	76	2	-2.400102	0	1	121412	2	38	1	1	2	3	1.954264	0	0.270000	2.180000	0.270984	0.090000	3.000000e-02	0.200000	0.080000	0.102854	0.090000	0	0.050000	0.140000
GNAS	2778	broad.mit.edu	37	20	57430245	57430245	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:57430245C>T	ENST00000371100.4	+	1	2477	c.1925C>T	c.(1924-1926)gCg>gTg	p.A642V	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A642V|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.R579W|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.A642V|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus			441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		GTACCCCTGGCGGAGAAGCGC	0.592000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	0							SO:0001583	missense			ENST00000371100.4	1	0	hg19	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.632|3.632	-0.075297|-0.075297	0.07184|0.07184	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102;ENST00000349036|ENST00000306120;ENST00000423897	D;D;D|.	0.89810|.	-2.41;-2.41;-2.57|.	3.84|3.84	-3.82|-3.82	0.04281|0.04281	.|.	11.375600|.	0.00166|.	N|.	0.000002|.	T|T	0.16981|0.16981	0.0408|0.0408	N|N	0.08118|0.08118	0|0	0.24069|0.24069	N|N	0.995984|0.995984	B|.	0.28178|.	0.202|.	B|.	0.17433|.	0.018|.	T|T	0.28332|0.28332	-1.0047|-1.0047	10|6	0.44086|0.87932	T|D	0.13|0	.|.	4.5295|4.5295	0.11997|0.11997	0.5251:0.2857:0.0:0.1892|0.5251:0.2857:0.0:0.1892	.|.	642|.	Q5JWF2|.	GNAS1_HUMAN|.	V|W	642;642;642;15|579;5	ENSP00000360141:A642V;ENSP00000360143:A642V;ENSP00000265621:A15V|.	ENSP00000265621:A15V|ENSP00000302237:R579W	A|R	+|+	2|1	0|2	GNAS|GNAS	56863640|56863640	0.002000|0.002000	0.14202|0.14202	0.204000|0.204000	0.23530|0.23530	0.101000|0.101000	0.19017|0.19017	-0.367000|-0.367000	0.07553|0.07553	-0.810000|-0.810000	0.04375|0.04375	-0.362000|-0.362000	0.07510|0.07510	GCG|CGG		TCGA-RB-A7B8-01A-12D-A33T-08	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	1	0	0	15	60	0	14	0	5.751016e-01	0	9	0	14	2	1	1	86	339	1	364	6	1	9.999135e-01	15	58	0	14	2		0	0	0	0	14	2	-20.000000	1	1	0	0		1	1	2	3	1.954264	0	0.270000	2.180000	0.270984	0.990000	8.800000e-01	1.000000	1.000000	0.993482	0.990000	1	0.990000	1.000000
TPTE	7179	broad.mit.edu	37	21	10970018	10970018	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:10970018G>A	ENST00000361285.4	-	6	439	c.110C>T	c.(109-111)gCg>gTg	p.A37V	TPTE_ENST00000298232.7_Missense_Mutation_p.A37V|TPTE_ENST00000342420.5_Missense_Mutation_p.A37V|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology			130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)		CCTTTCTTTCGCAGGTGCCTC	0.413000																								0							SO:0001583	missense			ENST00000361285.4	0	1	hg19	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	G	3.609	-0.080010	0.07141	0.0	1.16E-4	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.95137	-3.43;-3.62;-3.51	0.725	-1.45	0.08828	.	0.367802	0.19873	U	0.104151	T	0.82135	0.4971	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18610	0.009;0.001;0.029	B;B;B	0.10450	0.003;0.0;0.005	T	0.70342	-0.4898	10	0.02654	T	1	.	4.7832	0.13213	0.0:0.0:0.5421:0.4579	.	37;37;37	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	V	37	ENSP00000298232:A37V;ENSP00000355208:A37V;ENSP00000344441:A37V	ENSP00000298232:A37V	A	-	2	0	TPTE	9991889	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.742000	0.01835	-1.132000	0.02907	0.194000	0.17425	GCG		TCGA-RB-A7B8-01A-12D-A33T-08	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1	0	0	0	13	706	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	9.995118e-01	13	701	0	113	2		0	0	0	0	113	2	-2.612478	1	1	121412	11	42	1	0	0	0	1.940250	0	0.270000	2.180000	0.266037	0.130000	7.000000e-02	0.220000	0.140000	0.142510	0.130000	0	0.090000	0.180000
ERG	2078	broad.mit.edu	37	21	39755612	39755612	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:39755612G>A	ENST00000417133.2	-	12	1359	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	ERG_ENST00000442448.1_Missense_Mutation_p.R368C|ERG_ENST00000398919.2_Missense_Mutation_p.R392C|ERG_ENST00000398905.1_Missense_Mutation_p.R361C|ERG_ENST00000453032.2_Missense_Mutation_p.R293C|ERG_ENST00000398911.1_Missense_Mutation_p.R368C|ERG_ENST00000398897.1_Missense_Mutation_p.R269C|ERG_ENST00000288319.7_Missense_Mutation_p.R385C|ERG_ENST00000398910.1_Missense_Mutation_p.R369C|ERG_ENST00000398907.1_Missense_Mutation_p.R362C	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	4		Prostate(19;3.6e-06)		Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TAGGCGTAGCGCTTCCCATGG	0.572000			T	EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1	Ewing sarcoma, prostate, AML								Esophageal Squamous(130;336 1700 3010 3083 40589)		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		M, E, L	0							SO:0001583	missense			ENST00000417133.2	1	1	hg19	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728867	0.89390	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.992;1.0;1.0;0.957	T	0.70905	-0.4745	10	0.87932	D	0	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	392;361;368;385	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	C	361;362;385;269;368;392;369;368;293;392	ENSP00000381877:R361C;ENSP00000381879:R362C;ENSP00000288319:R385C;ENSP00000381871:R269C;ENSP00000381882:R368C;ENSP00000414150:R392C;ENSP00000381881:R369C;ENSP00000394694:R368C;ENSP00000396268:R293C;ENSP00000381891:R392C	ENSP00000288319:R385C	R	-	1	0	ERG	38677482	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.404000	0.81709	0.655000	0.94253	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	0	0	0	17	609	0	82	0	6.128642e-02	0	14	0	82	2		0	0	0	0	0	2	1	9.999603e-01	17	599	0	82	2		0	0	0	0	82	2	-3.004264	1	1	121412	1	33	1	0	0	0	1.940250	0	0.270000	2.180000	0.266037	0.200000	1.100000e-01	0.310000	0.200000	0.210239	0.200000	0	0.150000	0.260000
PCNT	5116	broad.mit.edu	37	21	47786815	47786815	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:47786815C>A	ENST00000359568.5	+	15	3033	c.2926C>A	c.(2926-2928)Ctc>Atc	p.L976I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				ATCCTGTTACCTCTCTGAATT	0.537000																								0							SO:0001583	missense			ENST00000359568.5	0	1	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280740	0.40294	.	.	ENSG00000160299	ENST00000359568	T	0.24908	1.83	5.36	3.45	0.39498	.	0.744958	0.10484	N	0.669220	T	0.40322	0.1112	M	0.64997	1.995	0.23700	N	0.99707	D;P	0.55800	0.973;0.954	P;P	0.53593	0.73;0.541	T	0.20840	-1.0263	10	0.36615	T	0.2	.	13.0171	0.58764	0.0:0.677:0.323:0.0	.	858;976	O95613-2;O95613	.;PCNT_HUMAN	I	976	ENSP00000352572:L976I	ENSP00000352572:L976I	L	+	1	0	PCNT	46611243	0.997000	0.39634	0.748000	0.31131	0.011000	0.07611	0.383000	0.20651	0.567000	0.29293	0.561000	0.74099	CTC		TCGA-RB-A7B8-01A-12D-A33T-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	0	0	5	647	1	123	0	5.787602e-04	0	4	1	123	2		0	0	0	0	0	2	0	4.724497e-03	5	643	1	122	18		0	0	0	1	123	2	-2.403309	0	1	0	0		1	0	0	0	1.940250	0	0.270000	2.180000	0.266037	0.050000	1.000000e-02	0.130000	0.060000	0.067292	0.050000	0	0.030000	0.090000
ZNRF3	84133	broad.mit.edu	37	22	29439358	29439358	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:29439358G>A	ENST00000544604.2	+	4	748	c.573G>A	c.(571-573)ctG>ctA	p.L191L	ZNRF3_ENST00000406323.3_Silent_p.L91L|ZNRF3_ENST00000402174.1_Silent_p.L91L|ZNRF3_ENST00000332811.4_Silent_p.L91L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3			28					CCATTAAGCTGATGAACATCG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000544604.2	0	1	hg19	CCDS56225.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	0	0	0	6	431	0	55	0	4.118005e-03	0	6	0	55	2		0	0	0	0	0	2	1	9.629015e-01	6	422	0	54	2		0	0	0	0	55	2	-3.325609	1	1	0	0		1	1	3	4	2.261605	1	0.270000	2.180000	0.368840	0.140000	4.000000e-02	1.000000	0.120000	0.340006	0.140000	0	0.080000	1.000000
SLC5A1	6523	broad.mit.edu	37	22	32481008	32481008	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:32481008G>A	ENST00000266088.4	+	9	1257	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	p.R336H(1)		37				Canagliflozin(DB08907)	ATGATCAGCCGCATTCTGTAC	0.483000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000266088.4	0	1	hg19	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907312	0.72868	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89123	-2.47;-2.47	4.92	2.8	0.32819	.	0.051673	0.85682	N	0.000000	D	0.95370	0.8497	H	0.95574	3.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94570	0.7770	10	0.87932	D	0	.	9.6601	0.39950	0.078:0.142:0.78:0.0	.	336	P13866	SC5A1_HUMAN	H	336;209	ENSP00000266088:R336H;ENSP00000444898:R209H	ENSP00000266088:R336H	R	+	2	0	SLC5A1	30811008	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	9.582000	0.98214	0.589000	0.29677	-0.229000	0.12294	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	0	0	0	7	852	1	103	0	3.607382e-03	0	59	1	103	4		0	0	0	0	0	2	0	8.460456e-04	7	842	1	103	25		0	0	0	1	103	2	-1.732319	0	1	121412	1	37	1	1	3	4	2.261605	1	0.270000	2.180000	0.368840	0.080000	2.000000e-02	1.000000	0.070000	0.296820	0.080000	0	0.050000	1.000000
CACNG2	10369	broad.mit.edu	37	22	36960745	36960745	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:36960745G>A	ENST00000300105.6	-	4	1606	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2			18					GCCGTGGCCCGCAGCTGTTTG	0.667000																								0							SO:0001583	missense			ENST00000300105.6	1	1	hg19	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119367	0.77323	.	.	ENSG00000166862	ENST00000300105	T	0.40756	1.02	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66590	-0.5885	10	0.66056	D	0.02	-7.8981	14.4754	0.67541	0.0:0.0:0.8529:0.1471	.	209	Q9Y698	CCG2_HUMAN	W	209	ENSP00000300105:R209W	ENSP00000300105:R209W	R	-	1	2	CACNG2	35290691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.656000	0.90262	0.655000	0.94253	CGG		TCGA-RB-A7B8-01A-12D-A33T-08	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2	1	0	0	68	1382	0	209		0	0	0	0	209	2		0	0	0	0	0	2	1	1	69	1364	0	205	2		0	0	0	0	209	2	-5.857161	1	1	0	0		1	1	3	4	2.261605	1	0.270000	2.180000	0.368840	0.410000	3.100000e-01	1.000000	0.410000	0.546701	0.410000	0	0.360000	1.000000
NPAS2	4862	broad.mit.edu	37	2	101592029	101592029	+	Splice_Site	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:101592029G>A	ENST00000335681.5	+	14	1677	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	AC016738.3_ENST00000433012.1_RNA|NPAS2_ENST00000542504.1_Splice_Site_p.P529P|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2			29					CCACCATGCCGGTAAGTGTGT	0.622000																								0							SO:0001630	splice_region_variant			ENST00000335681.5	0	1	hg19	CCDS2048.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3	0	0	0	6	503	0	84	0	2.829292e-01	0	77	0	84	2		0	0	0	0	0	2	1	9.645197e-01	6	500	0	83	2		0	0	0	0	84	2	-2.713821	1	1	121404	7	41	1	0	0	0	1.939708	0	0.270000	2.180000	0.266037	0.090000	3.000000e-02	0.180000	0.080000	0.100382	0.090000	0	0.050000	0.140000
CKAP2L	150468	broad.mit.edu	37	2	113514269	113514269	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113514269A>C	ENST00000302450.6	-	4	757	c.679T>G	c.(679-681)Ttg>Gtg	p.L227V	CKAP2L_ENST00000541405.1_Missense_Mutation_p.L62V|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like			28					CTTTTGCCCAAGGCTTGTTTA	0.373000																								0							SO:0001583	missense			ENST00000302450.6	1	1	hg19	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330842	0.24167	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.12879	2.64;3.29	5.0	0.984	0.19773	.	0.914293	0.09252	N	0.827794	T	0.14874	0.0359	M	0.64997	1.995	0.25552	N	0.987079	B	0.23540	0.087	B	0.26202	0.067	T	0.32929	-0.9888	10	0.42905	T	0.14	0.472	5.4096	0.16341	0.5372:0.1583:0.0:0.3044	.	227	Q8IYA6	CKP2L_HUMAN	V	62;227	ENSP00000438763:L62V;ENSP00000305204:L227V	ENSP00000305204:L227V	L	-	1	2	CKAP2L	113230740	0.000000	0.05858	0.169000	0.22859	0.861000	0.49209	-0.261000	0.08694	0.062000	0.16340	0.477000	0.44152	TTG		TCGA-RB-A7B8-01A-12D-A33T-08	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	1	0	0	25	414	0	74	0	0	1	0	0	74	2		0	0	0	0	0	2	1	9.999998e-01	25	413	0	74	2		0	0	0	0	74	2	-6.149242	1	1	0	0		1	0	0	0	1.939708	0	0.270000	2.180000	0.266037	0.420000	2.700000e-01	0.590000	0.420000	0.431636	0.420000	0	0.340000	0.510000
LCT	3938	broad.mit.edu	37	2	136575286	136575286	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:136575286G>A	ENST00000264162.2	-	6	1342	c.1332C>T	c.(1330-1332)tgC>tgT	p.C444C	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase			124				Vitamin C(DB00126)	CCCGGAGGCCGCAAAGCAGGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000264162.2	0	1	hg19	CCDS2178.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	0	0	0	8	491	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	9.891249e-01	7	488	0	80	2		0	0	0	0	81	2	-2.342122	0	1	121412	7	40	1	0	0	0	1.939708	0	0.270000	2.180000	0.266037	0.120000	5.000000e-02	0.220000	0.120000	0.131620	0.120000	0	0.080000	0.170000
SCN1A	6323	broad.mit.edu	37	2	166901827	166901827	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:166901827G>A	ENST00000303395.4	-	10	1387	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T463M|SCN1A_ENST00000409050.1_Missense_Mutation_p.T463M|SCN1A_ENST00000423058.2_Missense_Mutation_p.T463M|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit			200				Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCAGTTGCCGTTGCTGCCTG	0.443000																								0							SO:0001583	missense			ENST00000303395.4	0	1	hg19	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507602	0.27036	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.37	4.49	0.54785	.	0.572471	0.15627	N	0.252583	T	0.13286	0.0322	N	0.04203	-0.255	0.24301	N	0.99512	B;B;B	0.30021	0.265;0.173;0.173	B;B;B	0.25759	0.063;0.029;0.029	T	0.16305	-1.0407	10	0.37606	T	0.19	.	14.4281	0.67230	0.0709:0.0:0.9291:0.0	.	463;463;463	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	463	ENSP00000407030:T463M;ENSP00000303540:T463M;ENSP00000364554:T463M;ENSP00000386312:T463M	ENSP00000303540:T463M	T	-	2	0	SCN1A	166610073	0.963000	0.33076	0.098000	0.21074	0.070000	0.16714	3.561000	0.53770	1.411000	0.46957	0.655000	0.94253	ACG		TCGA-RB-A7B8-01A-12D-A33T-08	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	0	0	0	6	498	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	9.640746e-01	6	494	0	90	2		0	0	0	0	90	2	-2.716045	1	1	121408	4	37	1	0	0	0	1.939708	0	0.270000	2.180000	0.266037	0.090000	3.000000e-02	0.180000	0.090000	0.101368	0.090000	0	0.050000	0.140000
TTN	7273	broad.mit.edu	37	2	179418445	179418445	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:179418445C>A	ENST00000591111.1	-	284	84588	c.84364G>T	c.(84364-84366)Ggc>Tgc	p.G28122C	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27195C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20698C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G29763C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20890C|TTN_ENST00000359218.5_Missense_Mutation_p.G20823C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ACAGCACTGCCCCCATCATAG	0.483000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.1	3.939712	0.73557	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84297	0.5441	H	0.95079	3.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88293	0.2944	9	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	20698;20823;20890;28122	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	27195;20698;20890;20823;20695	ENSP00000343764:G27195C;ENSP00000434586:G20698C;ENSP00000340554:G20890C;ENSP00000352154:G20823C	ENSP00000340554:G20890C	G	-	1	0	TTN	179126691	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GGC		TCGA-RB-A7B8-01A-12D-A33T-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	6	306	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	9.653717e-01	6	306	0	45	2		0	0	0	0	46	2	-6.508263	1	1	0	0		1	0	0	0	1.939708	0	0.270000	2.180000	0.266037	0.140000	5.000000e-02	0.290000	0.140000	0.162795	0.140000	0	0.090000	0.220000
ITGA4	3676	broad.mit.edu	37	2	182360534	182360534	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:182360534C>T	ENST00000397033.2	+	14	1840	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)			58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)	Natalizumab(DB00108)|Tinzaparin(DB06822)	TAATTGTTGACGCTTCTTTAA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000397033.2	1	1	hg19	CCDS42788.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1	1	0	1	55	339	0	63	0	1.501614e-01	0	5	0	63	2		0	0	0	0	0	2	1	1	54	338	0	63	2		0	0	0	0	63	2	-19.999970	1	1	120818	4	37	1	0	0	0	1.939708	0	0.270000	2.180000	0.266037	0.990000	7.900000e-01	1.000000	1.000000	0.964861	0.990000	1	0.900000	1.000000
COL6A3	1293	broad.mit.edu	37	2	238253001	238253001	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:238253001C>T	ENST00000295550.4	-	36	8112	c.7660G>A	c.(7660-7662)Gct>Act	p.A2554T	COL6A3_ENST00000472056.1_Missense_Mutation_p.A1947T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2348T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2348T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2354T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2353T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3			217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)			ACCTGCAAAGCGTTGATGAGC	0.557000																								0							SO:0001583	missense			ENST00000295550.4	0	1	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881687	0.51908	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.08	5.08	0.68730	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000069	D	0.90335	0.6976	M	0.71581	2.175	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;0.999;0.998;0.999	D	0.88468	0.3060	10	0.30854	T	0.27	.	18.8647	0.92287	0.0:1.0:0.0:0.0	.	1947;1947;2348;2554	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	T	2554;2353;2348;1947;2348;2354	ENSP00000295550:A2554T;ENSP00000315609:A2353T;ENSP00000315873:A2348T;ENSP00000418285:A1947T;ENSP00000386844:A2348T;ENSP00000295546:A2354T	ENSP00000295550:A2554T	A	-	1	0	COL6A3	237917740	1.000000	0.71417	0.210000	0.23637	0.878000	0.50629	7.308000	0.78929	2.507000	0.84556	0.655000	0.94253	GCT		TCGA-RB-A7B8-01A-12D-A33T-08	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	0	0	0	9	1249	0	213	0	9.874261e-01	0	1052	0	213	2		0	0	0	0	0	2	1	9.940544e-01	9	1242	0	210	2		0	0	0	0	213	2	-2.597499	1	1	0	0		1	0	0	0	1.939708	0	0.270000	2.180000	0.266037	0.050000	2.000000e-02	0.100000	0.060000	0.058377	0.050000	0	0.030000	0.080000
D2HGDH	728294	broad.mit.edu	37	2	242695366	242695366	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:242695366G>A	ENST00000321264.4	+	9	1452	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	D2HGDH_ENST00000486953.1_3'UTR|AC114730.7_ENST00000417267.1_RNA|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V281M	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase			16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)			CTACGACATCGTGACTGACCT	0.687000																								0							SO:0001583	missense			ENST00000321264.4	1	1	hg19	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.477180|3.477180	0.63849|0.63849	2.27E-4|2.27E-4	0.0|0.0	ENSG00000180902|ENSG00000180902	ENST00000432449|ENST00000321264;ENST00000403782;ENST00000542211	.|D;D	.|0.85773	.|-2.03;-2.03	5.31|5.31	5.31|5.31	0.75309|0.75309	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	.|0.071537	.|0.56097	.|D	.|0.000031	D|D	0.93585|0.93585	0.7952|0.7952	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.94453|0.94453	0.7669|0.7669	6|10	0.49607|0.87932	T|D	0.09|0	-3.3567|-3.3567	18.9757|18.9757	0.92735|0.92735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|415	.|Q8N465	.|D2HDH_HUMAN	H|M	168|415;281;35	.|ENSP00000315351:V415M;ENSP00000384723:V281M	ENSP00000383580:R319H|ENSP00000315351:V415M	R|V	+|+	2|1	0|0	D2HGDH|D2HGDH	242344039|242344039	1.000000|1.000000	0.71417|0.71417	0.088000|0.088000	0.20740|0.20740	0.088000|0.088000	0.18126|0.18126	8.597000|8.597000	0.90847|0.90847	2.485000|2.485000	0.83878|0.83878	0.467000|0.467000	0.42956|0.42956	CGT|GTG		TCGA-RB-A7B8-01A-12D-A33T-08	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	1	0	1	82	409	0	106	1	9.992473e-01	17	38	0	106	2		0	0	0	0	0	2	1	1	81	404	0	105	2		0	0	0	0	106	2	-20.000000	1	0	121390	3	41	1	0	0	0	1.939708	0	0.270000	2.180000	0.266037	0.990000	9.900000e-01	1.000000	1.000000	0.999007	0.990000	1	0.990000	1.000000
CNNM4	26504	broad.mit.edu	37	2	97463316	97463316	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:97463316C>T	ENST00000377075.2	+	3	1711	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Missense_Mutation_p.A25V|MIR3127_ENST00000583925.1_RNA	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4			20					TTCAAGGATGCGGACAATGAG	0.562000																								0							SO:0001583	missense			ENST00000377075.2	0	1	hg19	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899383	0.33535	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.72505	-0.66	5.25	5.25	0.73442	.	0.737333	0.12913	N	0.428840	T	0.61350	0.2340	L	0.40543	1.245	0.18873	N	0.999981	P;B	0.47841	0.901;0.065	B;B	0.37601	0.254;0.01	T	0.59408	-0.7460	10	0.51188	T	0.08	-2.8163	13.5984	0.62004	0.156:0.844:0.0:0.0	.	25;538	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	V	538;25	ENSP00000366275:A538V	ENSP00000366275:A538V	A	+	2	0	CNNM4	96827043	0.002000	0.14202	0.448000	0.26945	0.001000	0.01503	1.755000	0.38379	2.608000	0.88229	0.655000	0.94253	GCG		TCGA-RB-A7B8-01A-12D-A33T-08	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	0	0	0	5	441	0	58	0	6.920286e-03	0	9	0	58	2		0	0	0	0	0	2	1	9.352416e-01	5	434	0	58	2		0	0	0	0	58	2	-2.499394	0	1	121412	2	39	1	0	0	0	1.939708	0	0.270000	2.180000	0.266037	0.080000	2.000000e-02	0.180000	0.080000	0.098064	0.080000	0	0.050000	0.140000
VWA3B	200403	broad.mit.edu	37	2	98736133	98736133	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:98736133G>A	ENST00000477737.1	+	4	653	c.449G>A	c.(448-450)gGc>gAc	p.G150D	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B			70					GATTTTGGCGGCATTCTGGAG	0.522000																								0							SO:0001583	missense			ENST00000477737.1	0	1	hg19	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	1.464	-0.561569	0.03939	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.35973	1.28;1.28	6.02	-3.25	0.05079	.	1.332560	0.04551	N	0.389819	T	0.19967	0.0480	N	0.17474	0.49	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.002	T	0.17501	-1.0367	10	0.32370	T	0.25	.	4.4567	0.11647	0.553:0.1139:0.2439:0.0893	.	150;150	Q502W6;Q502W6-8	VWA3B_HUMAN;.	D	150	ENSP00000401959:G150D;ENSP00000417955:G150D	ENSP00000411168:G150D	G	+	2	0	VWA3B	98102565	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.140000	0.16056	-0.462000	0.06984	-0.150000	0.13652	GGC		TCGA-RB-A7B8-01A-12D-A33T-08	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	0	0	0	7	1058	0	175	0	0	0	1	0	175	2		0	0	0	0	0	2	1	9.799996e-01	7	1049	0	175	2		0	0	0	0	175	2	-1.905977	0	1	0	0		1	0	0	0	1.939708	0	0.270000	2.180000	0.266037	0.040000	1.000000e-02	0.100000	0.050000	0.055162	0.040000	0	0.020000	0.070000
GTPBP8	29083	broad.mit.edu	37	3	112710121	112710121	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:112710121G>A	ENST00000383678.2	+	1	357	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GTPBP8_ENST00000467752.1_5'Flank|RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000383677.3_Missense_Mutation_p.R92H|GTPBP8_ENST00000473129.1_5'Flank	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)			6					GAACGGAACCGCATCGACTAC	0.647000																								0							SO:0001583	missense			ENST00000383678.2	0	1	hg19	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494060	0.64186	0.0	1.16E-4	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.48836	2.35;0.8	6.08	5.19	0.71726	.	0.293519	0.38897	N	0.001533	T	0.61022	0.2314	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.67382	0.951;0.821	T	0.64093	-0.6488	10	0.56958	D	0.05	-1.0752	5.3975	0.16276	0.0749:0.1445:0.6305:0.1501	.	92;92	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	H	92	ENSP00000373176:R92H;ENSP00000373175:R92H	ENSP00000295864:R92H	R	+	2	0	GTPBP8	114192811	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	2.285000	0.43487	1.564000	0.49628	0.655000	0.94253	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	0	0	0	5	388	0	37	0	6.815765e-02	0	27	0	37	2		0	0	0	0	0	2	1	9.358000e-01	5	383	0	37	2		0	0	0	0	37	2	-3.128482	1	1	121376	1	34	1	1	4	5	2.528806	1	0.270000	2.180000	0.440077	0.150000	4.000000e-02	1.000000	0.130000	0.299346	0.150000	0	0.080000	1.000000
GSK3B	2932	broad.mit.edu	37	3	119595270	119595270	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:119595270G>A	ENST00000264235.8	-	8	1881	c.899C>T	c.(898-900)cCt>cTt	p.P300L	GSK3B_ENST00000473886.1_5'UTR|GSK3B_ENST00000316626.5_Missense_Mutation_p.P300L	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta			18				Lithium(DB01356)	CTTAGTCCAAGGATGTGCCTT	0.333000																								0							SO:0001583	missense			ENST00000264235.8	0	1	hg19	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414006	0.62511	.	.	ENSG00000082701	ENST00000264235;ENST00000316626;ENST00000539838	T;T	0.41400	1.0;1.0	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.43152	1.355	0.80722	D	1	B;P	0.38129	0.416;0.619	B;B	0.36335	0.222;0.142	T	0.45789	-0.9237	10	0.72032	D	0.01	-6.4785	18.0111	0.89224	0.0:0.0:1.0:0.0	.	300;300	P49841;P49841-2	GSK3B_HUMAN;.	L	300;300;17	ENSP00000264235:P300L;ENSP00000324806:P300L	ENSP00000264235:P300L	P	-	2	0	GSK3B	121077960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.142000	0.94618	2.561000	0.86390	0.650000	0.86243	CCT		TCGA-RB-A7B8-01A-12D-A33T-08	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2	0	0	0	6	424	0	52	0	4.247183e-01	0	92	0	52	2		0	0	0	0	0	2	1	9.642000e-01	6	420	0	52	2		0	0	0	0	52	2	-2.838193	1	1	0	0		1	1	4	5	2.528806	1	0.270000	2.180000	0.440077	0.160000	5.000000e-02	1.000000	0.130000	0.307444	0.160000	0	0.090000	1.000000
MYLK	4638	broad.mit.edu	37	3	123428605	123428605	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:123428605G>A	ENST00000475616.1	-	11	1939	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	MYLK_ENST00000360772.3_Missense_Mutation_p.S647L|MYLK_ENST00000359169.1_Missense_Mutation_p.S647L|MYLK_ENST00000346322.5_Missense_Mutation_p.S578L|MYLK_ENST00000360304.3_Missense_Mutation_p.S647L			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			AGACAGACCTGACACTTGGAC	0.537000																								0							SO:0001583	missense			ENST00000475616.1	0	1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887908	0.91814	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70675	0.3251	L	0.28649	0.875	0.80722	D	1	P;B;D;P;P	0.55172	0.944;0.355;0.97;0.858;0.955	P;B;P;P;P	0.60541	0.804;0.171;0.804;0.491;0.876	T	0.66806	-0.5830	9	0.27082	T	0.32	.	18.5896	0.91204	0.0:0.0:1.0:0.0	.	647;578;647;578;647	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	L	647;647;647;578;647	ENSP00000354004:S647L;ENSP00000353452:S647L;ENSP00000352088:S647L;ENSP00000320622:S578L;ENSP00000418335:S647L	ENSP00000320622:S578L	S	-	2	0	MYLK	124911295	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.742000	0.68646	2.622000	0.88805	0.650000	0.86243	TCA		TCGA-RB-A7B8-01A-12D-A33T-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	0	0	19	2015	0	235	0	1.011705e-04	0	2	0	235	2		0	0	0	0	0	2	1	9.999892e-01	19	2000	0	234	2		0	0	0	0	235	2	-2.559127	1	1	0	0		1	1	4	5	2.528806	1	0.270000	2.180000	0.440077	0.090000	4.000000e-02	1.000000	0.090000	0.256705	0.090000	0	0.060000	1.000000
ZBTB38	253461	broad.mit.edu	37	3	141163339	141163339	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:141163339C>T	ENST00000514251.1	+	4	2388	c.2109C>T	c.(2107-2109)gcC>gcT	p.A703A	ZBTB38_ENST00000441582.2_Silent_p.A703A|ZBTB38_ENST00000321464.5_Silent_p.A704A					zinc finger and BTB domain containing 38			41					GTGAGAATGCCGCCTCTGTGA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000514251.1	1	1	hg19	CCDS43157.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2	1	0	1	54	691	0	79	1	8.613664e-01	6	41	0	79	2		0	0	0	0	0	2	1	1	54	688	0	77	2		0	0	0	0	79	2	-2.665581	1	1	120978	2	37	1	1	4	5	2.528806	1	0.270000	2.180000	0.440077	0.720000	5.300000e-01	1.000000	0.690000	0.761825	0.720000	0	0.620000	1.000000
SLC7A14	57709	broad.mit.edu	37	3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	p.A659V(1)		53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		GCACCAGACCGCAAACCGGAT	0.498000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000231706.5	0	1	hg19	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525393	0.44969	0.0	2.33E-4	ENSG00000013293	ENST00000231706	D	0.87103	-2.21	5.81	4.94	0.65067	.	0.154542	0.56097	D	0.000025	T	0.72867	0.3514	N	0.04203	-0.255	0.47065	D	0.999306	B	0.24576	0.106	B	0.15484	0.013	T	0.68349	-0.5432	10	0.25751	T	0.34	.	14.9962	0.71433	0.0683:0.0:0.9317:0.0	.	659	Q8TBB6	S7A14_HUMAN	V	659	ENSP00000231706:A659V	ENSP00000231706:A659V	A	-	2	0	SLC7A14	171680789	1.000000	0.71417	0.906000	0.35671	0.997000	0.91878	7.611000	0.82962	1.455000	0.47813	0.655000	0.94253	GCG		TCGA-RB-A7B8-01A-12D-A33T-08	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	0	0	0	9	793	0	103	0	0	0	1	0	103	2		0	0	0	0	0	2	1	9.940047e-01	8	787	0	102	2		0	0	0	0	103	2	-1.895576	0	1	120976	23	48	1	1	4	5	2.528806	1	0.270000	2.180000	0.440077	0.120000	4.000000e-02	1.000000	0.120000	0.277899	0.120000	0	0.070000	1.000000
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:178952072A>T	ENST00000263967.3	+	21	3284	c.3127A>T	c.(3127-3129)Atg>Ttg	p.M1043L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	p.M1043V(22)		5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)	Caffeine(DB00201)	CATGAAACAAATGAATGATGC	0.368000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	phosphoinositide-3-kinase, catalytic, alpha polypeptide		E, O	22	Substitution - Missense(22)						SO:0001583	missense			ENST00000263967.3	1	1	hg19	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.313034	0.40895	.	.	ENSG00000121879	ENST00000263967	T	0.79845	-1.31	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	N	0.01761	-0.735	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.59674	-0.7410	10	0.46703	T	0.11	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	L	1043	ENSP00000263967:M1043L	ENSP00000263967:M1043L	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		TCGA-RB-A7B8-01A-12D-A33T-08	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2	1	0	1	160	318	0	51	1	1	22	35	0	51	2		0	0	0	0	0	2	1	1	158	315	0	51	2		0	0	0	0	51	2	-20.000000	1	1	0	0		1	1	4	5	2.528806	1	0.270000	2.180000	0.440077	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
OPA1	4976	broad.mit.edu	37	3	193366601	193366601	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:193366601A>C	ENST00000392438.3	+	19	2022	c.1788A>C	c.(1786-1788)aaA>aaC	p.K596N	OPA1_ENST00000361908.3_Missense_Mutation_p.K633N|OPA1_ENST00000361715.2_Missense_Mutation_p.K615N|OPA1_ENST00000361828.2_Missense_Mutation_p.K614N|OPA1_ENST00000361510.2_Missense_Mutation_p.K651N|OPA1_ENST00000361150.2_Missense_Mutation_p.K597N	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)			31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)		TATTTGAAAAAGCTAAAAATG	0.308000																								0							SO:0001583	missense			ENST00000392438.3	1	1	hg19	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985177	0.74474	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96041	-3.48;-3.47;-3.44;-3.46;-3.49;-3.89	6.08	-4.14	0.03892	.	0.000000	0.85682	D	0.000000	D	0.96207	0.8763	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.993;0.999;0.996;0.996;0.999;0.996;0.999;0.998	D;D;D;D;D;D;D;D	0.70487	0.933;0.922;0.969;0.969;0.942;0.969;0.941;0.969	D	0.94142	0.7398	10	0.56958	D	0.05	-27.0205	12.8665	0.57941	0.541:0.0:0.459:0.0	.	560;596;578;597;614;633;615;651	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	N	633;596;651;615;614;597	ENSP00000354681:K633N;ENSP00000376233:K596N;ENSP00000355324:K651N;ENSP00000355311:K615N;ENSP00000354429:K614N;ENSP00000354781:K597N	ENSP00000354781:K597N	K	+	3	2	OPA1	194849295	0.998000	0.40836	0.922000	0.36590	0.981000	0.71138	0.731000	0.26058	-1.012000	0.03387	-0.408000	0.06270	AAA		TCGA-RB-A7B8-01A-12D-A33T-08	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	1	0	0	32	505	0	63	1	9.131675e-01	3	65	0	63	2		0	0	0	0	0	2	1	1	32	498	0	63	2		0	0	0	0	63	2	-7.010273	1	1	0	0		1	1	4	5	2.528806	1	0.270000	2.180000	0.440077	0.600000	4.000000e-01	1.000000	0.590000	0.663433	0.600000	0	0.490000	1.000000
CACNA1D	776	broad.mit.edu	37	3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:53769492G>A	ENST00000350061.5	+	20	3224	c.2713G>A	c.(2713-2715)Gca>Aca	p.A905T	CACNA1D_ENST00000288139.4_Missense_Mutation_p.A925T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit			90				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCCCTGGCCGCAGAGGACCC	0.627000																								0							SO:0001583	missense			ENST00000350061.5	0	1	hg19	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595482	0.66219	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.46	4.58	0.56647	.	0.066144	0.64402	N	0.000015	D	0.98601	0.9532	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.972	D;P;D;P	0.79108	0.988;0.659;0.992;0.816	D	0.99655	1.0992	10	0.87932	D	0	.	16.7269	0.85424	0.0:0.1292:0.8708:0.0	.	905;598;905;925	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	T	905;925;905;598	ENSP00000288133:A905T;ENSP00000288139:A925T;ENSP00000409174:A905T;ENSP00000418014:A598T	ENSP00000288139:A925T	A	+	1	0	CACNA1D	53744532	1.000000	0.71417	0.106000	0.21319	0.197000	0.23852	7.906000	0.87423	1.407000	0.46875	0.555000	0.69702	GCA		TCGA-RB-A7B8-01A-12D-A33T-08	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	0	0	0	6	457	1	70	0	7.653401e-04	0	3	1	70	2		0	0	0	0	0	2	0	2.489373e-03	8	453	1	69	21		0	0	0	1	70	2	-2.691434	1	1	121412	2	39	1	0	1	1	1.948477	0	0.270000	2.180000	0.268024	0.100000	3.000000e-02	0.200000	0.100000	0.110555	0.100000	0	0.060000	0.150000
SRGAP3	9901	broad.mit.edu	37	3	9100157	9100157	+	Splice_Site	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:9100157C>T	ENST00000383836.3	-	7	1229		c.e7-1		SRGAP3_ENST00000433332.3_Splice_Site|SRGAP3_ENST00000360413.3_Splice_Site	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3		SRGAP3/RAF1(6)	54					AATCACAGCACTTGGGGAGAG	0.577000			T	RAF1	pilocytic astrocytoma										Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0							SO:0001630	splice_region_variant			ENST00000383836.3	0	1	hg19	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424679	0.83667	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1098	0.93312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRGAP3	9075157	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	7.663000	0.83820	2.596000	0.87737	0.650000	0.86243	.		TCGA-RB-A7B8-01A-12D-A33T-08	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3	0	0	0	8	376	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	9.889666e-01	8	371	0	68	2		0	0	0	0	68	2	-8.141846	1	1	0	0		1	0	0	0	1.920345	0	0.270000	2.180000	0.255937	0.150000	7.000000e-02	0.280000	0.150000	0.168169	0.150000	0	0.100000	0.220000
DCAF4L1	285429	broad.mit.edu	37	4	41984154	41984154	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:41984154C>T	ENST00000333141.5	+	1	442	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1			37					TCCACGTGTACGTGCTCAGAA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000333141.5	1	1	hg19	CCDS33978.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	1	0	1	67	402	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	66	397	0	73	2		0	0	0	0	73	2	-20.000000	1	1	121412	1	33	1	0	0	0	1.930260	0	0.270000	2.180000	0.260010	0.990000	8.200000e-01	1.000000	1.000000	0.974019	0.990000	1	0.920000	1.000000
GPR78	27201	broad.mit.edu	37	4	8582937	8582937	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:8582937C>T	ENST00000382487.4	+	1	645	c.228C>T	c.(226-228)ccC>ccT	p.P76P	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78			26					CGTCGGCGCCCGGCGCATGCC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000382487.4	0	1	hg19	CCDS3403.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1	1	0	1	15	86	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.999088e-01	15	85	0	15	2		0	0	0	0	16	2	-19.999990	1	1	0	0		1	0	0	0	1.930260	0	0.270000	2.180000	0.260010	0.990000	6.500000e-01	1.000000	1.000000	0.945651	0.990000	1	0.840000	1.000000
PCDHA12	56137	broad.mit.edu	37	5	140257259	140257259	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140257259G>A	ENST00000398631.2	+	1	2202	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12			78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGTGCGCGCCGGGCAAGCCCA	0.682000													Pancreas(113;759 1672 13322 24104 50104)											0							SO:0001819	synonymous_variant			ENST00000398631.2	1	1	hg19	CCDS47285.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	1	0	1	55	177	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	1	55	177	0	35	2		0	0	0	0	36	2	-3.933300	1	1	0	0		1	0	1	1	1.948940	0	0.270000	2.180000	0.268024	0.990000	9.900000e-01	1.000000	1.000000	0.999999	0.990000	1	0.990000	1.000000
PCDHB11	56125	broad.mit.edu	37	5	140581503	140581503	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140581503C>T	ENST00000354757.3	+	1	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A354V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11			63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		AGGAGCAGGGCGGCCTCGGTG	0.652000																								0							SO:0001583	missense			ENST00000354757.3	1	1	hg19	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	12.20	1.867239	0.32977	0.0	2.33E-4	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.17528	2.27;2.27	2.77	0.731	0.18277	.	.	.	.	.	T	0.19846	0.0477	M	0.88031	2.925	0.09310	N	1	P	0.36599	0.56	B	0.22880	0.042	T	0.14952	-1.0454	9	0.72032	D	0.01	.	6.2507	0.20843	0.2201:0.5842:0.1957:0.0	.	719	Q9Y5F2	PCDBB_HUMAN	V	354;719	ENSP00000440344:A354V;ENSP00000346802:A719V	ENSP00000346802:A719V	A	+	2	0	PCDHB11	140561687	0.000000	0.05858	0.004000	0.12327	0.229000	0.25112	-0.444000	0.06854	0.020000	0.15106	0.549000	0.68633	GCG		TCGA-RB-A7B8-01A-12D-A33T-08	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	1	0	1	165	969	0	181	0	2.146277e-02	1	1	0	181	2		0	0	0	0	0	2	1	1	162	943	0	183	2		0	0	0	0	181	2	-20.000000	1	1	121412	3	39	1	0	1	1	1.948940	0	0.270000	2.180000	0.268024	0.990000	9.200000e-01	1.000000	1.000000	0.993813	0.990000	1	0.990000	1.000000
ASCC3	10973	broad.mit.edu	37	6	101073182	101073182	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:101073182A>G	ENST00000369162.2	-	30	5015	c.4671T>C	c.(4669-4671)ccT>ccC	p.P1557P		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3			92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)			ATATCAAAACAGGTTTGGCTG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000369162.2	1	1	hg19	CCDS5046.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	0	0	0	14	355	0	51	0	7.293107e-02	1	10	0	51	2		0	0	0	0	0	2	1	9.997531e-01	14	352	0	50	2		0	0	0	0	51	2	-14.517800	1	1	0	0		1	0	0	0	1.929623	0	0.270000	2.180000	0.260010	0.280000	1.500000e-01	0.440000	0.280000	0.293176	0.280000	0	0.210000	0.360000
PHACTR1	221692	broad.mit.edu	37	6	13206143	13206143	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:13206143C>A	ENST00000379350.1	+	7	890	c.761C>A	c.(760-762)cCa>cAa	p.P254Q	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P254Q|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P109Q			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1			26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		GTGGGGGGGCCAGACCTCTCA	0.602000																								0							SO:0001583	missense			ENST00000379350.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.984897|3.984897	0.74474|0.74474	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702|ENST00000415087	T;T;T|.	0.31510|.	1.49;1.53;1.52|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.598284|.	0.18257|.	N|.	0.146764|.	T|T	0.37489|0.37489	0.1005|0.1005	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;P;P|.	0.61697|.	0.99;0.838;0.899|.	P;B;B|.	0.58780|.	0.845;0.276;0.367|.	T|T	0.29119|0.29119	-1.0022|-1.0022	10|5	0.15499|.	T|.	0.54|.	-7.9901|-7.9901	17.722|17.722	0.88355|0.88355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	323;254;254|.	E7ESR5;Q9C0D0;Q9C0D0-2|.	.;PHAR1_HUMAN;.|.	Q|K	254;254;323;109|89	ENSP00000368655:P254Q;ENSP00000329880:P254Q;ENSP00000397669:P109Q|.	ENSP00000329880:P254Q|.	P|Q	+|+	2|1	0|0	PHACTR1|PHACTR1	13314122|13314122	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.973000|0.973000	0.67179|0.67179	3.146000|3.146000	0.50631|0.50631	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	CCA|CAG		TCGA-RB-A7B8-01A-12D-A33T-08	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	1	0	1	83	358	0	72	0	3.597521e-02	0	2	0	72	2		0	0	0	0	0	2	1	1	82	354	0	72	2		0	0	0	0	72	2	-20.000000	1	1	0	0		1	0	0	0	1.929623	0	0.270000	2.180000	0.260010	0.990000	9.900000e-01	1.000000	1.000000	0.999957	0.990000	1	0.990000	1.000000
STXBP5	134957	broad.mit.edu	37	6	147680320	147680320	+	Silent	SNP	G	G	A	rs142207202		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:147680320G>A	ENST00000321680.6	+	23	2406	c.2406G>A	c.(2404-2406)acG>acA	p.T802T	STXBP5_ENST00000367481.3_Silent_p.T766T|STXBP5_ENST00000179882.6_Silent_p.T457T|STXBP5_ENST00000367480.3_Silent_p.T749T	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)			42		Ovarian(120;0.0164)			TCTGTGAAACGTTTACTCGAA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000321680.6	1	1	hg19	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	A	0.141	-1.102263	0.01828	2.27E-4	3.49E-4	ENSG00000164506	ENST00000367475	.	.	.	5.46	-8.64	0.00874	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38457	-0.9660	4	.	.	.	.	3.0411	0.06139	0.2097:0.1742:0.4436:0.1725	.	.	.	.	I	128	.	.	V	+	1	0	STXBP5	147722013	0.026000	0.19158	0.003000	0.11579	0.052000	0.14988	-0.885000	0.04161	-2.023000	0.00937	-2.952000	0.00084	GTT		TCGA-RB-A7B8-01A-12D-A33T-08	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	1	0	1	38	327	0	47	0	4.446599e-01	1	13	0	47	2		0	0	0	0	0	2	1	1	38	323	0	46	2		0	0	0	0	47	2	-9.575886	1	1	121406	17	46	1	0	0	0	1.929623	0	0.270000	2.180000	0.260010	0.750000	5.500000e-01	0.990000	0.760000	0.768818	0.750000	0	0.640000	0.880000
GMPR	2766	broad.mit.edu	37	6	16279069	16279069	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:16279069C>T	ENST00000259727.4	+	6	716	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase			20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)			CAGCTGAGTGCCGTCATTGAG	0.592000																								0							SO:0001583	missense			ENST00000259727.4	0	1	hg19	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883826	0.72410	.	.	ENSG00000137198	ENST00000259727	D	0.90385	-2.66	4.85	4.85	0.62838	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	H	0.99815	4.805	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.99605	1.0979	10	0.87932	D	0	-8.3541	16.7414	0.85460	0.0:1.0:0.0:0.0	.	201	P36959	GMPR1_HUMAN	V	201	ENSP00000259727:A201V	ENSP00000259727:A201V	A	+	2	0	GMPR	16387048	1.000000	0.71417	0.792000	0.32020	0.153000	0.21895	7.327000	0.79147	2.237000	0.73441	0.462000	0.41574	GCC		TCGA-RB-A7B8-01A-12D-A33T-08	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2	0	0	0	5	420	0	70	0	5.223545e-02	0	25	0	70	2		0	0	0	0	0	2	1	9.343130e-01	5	411	0	70	2		0	0	0	0	70	2	-2.872093	1	1	0	0		1	0	0	0	1.929623	0	0.270000	2.180000	0.260010	0.090000	3.000000e-02	0.190000	0.090000	0.101995	0.090000	0	0.050000	0.140000
GNL1	2794	broad.mit.edu	37	6	30514571	30514571	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:30514571C>T	ENST00000376621.3	-	11	2454	c.1484G>A	c.(1483-1485)cGg>cAg	p.R495Q		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1			25					CACATCATTCCGAGCCGCCTT	0.522000																								0							SO:0001583	missense			ENST00000376621.3	0	1	hg19	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	C	35	5.554718	0.96514	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.49720	0.77	5.44	5.44	0.79542	.	0.119786	0.56097	D	0.000022	T	0.45458	0.1343	L	0.37630	1.12	0.58432	D	0.999999	P;D;B	0.89917	0.889;1.0;0.052	P;D;B	0.74674	0.617;0.984;0.007	T	0.24512	-1.0158	10	0.09338	T	0.73	-40.1993	18.0176	0.89246	0.0:1.0:0.0:0.0	.	493;292;495	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	Q	495;317;292	ENSP00000365806:R495Q	ENSP00000365806:R495Q	R	-	2	0	GNL1	30622550	1.000000	0.71417	0.233000	0.24025	0.996000	0.88848	6.691000	0.74573	2.560000	0.86352	0.561000	0.74099	CGG		TCGA-RB-A7B8-01A-12D-A33T-08	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2	0	0	0	7	479	0	63	1	8.073134e-01	3	207	0	63	2		0	0	0	0	0	2	1	9.792697e-01	7	469	0	59	2		0	0	0	0	63	2	-2.712494	1	1	0	0		1	0	0	0	1.929623	0	0.270000	2.180000	0.260010	0.100000	4.000000e-02	0.210000	0.110000	0.119090	0.100000	0	0.070000	0.160000
ANKS1A	23294	broad.mit.edu	37	6	34985688	34985688	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:34985688G>A	ENST00000360359.3	+	11	2000	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A			31					AAACTCAGCCGCAGCTTGTCC	0.597000																								0							SO:0001583	missense			ENST00000360359.3	0	1	hg19	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388694	0.82902	.	.	ENSG00000064999	ENST00000360359	T	0.46819	0.86	5.41	5.41	0.78517	.	0.000000	0.50627	D	0.000117	T	0.61640	0.2363	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.63314	-0.6665	10	0.72032	D	0.01	-18.3484	19.5669	0.95397	0.0:0.0:1.0:0.0	.	621	Q92625	ANS1A_HUMAN	H	621	ENSP00000353518:R621H	ENSP00000353518:R621H	R	+	2	0	ANKS1A	35093666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.374000	0.97172	2.694000	0.91930	0.655000	0.94253	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	0	0	0	9	1025	0	160	0	7.340053e-03	0	13	0	160	2		0	0	0	0	0	2	0	1.935047e-02	8	1017	1	159	21		0	0	0	0	160	2	-1.899855	0	1	0	0		1	0	0	0	1.929623	0	0.270000	2.180000	0.260010	0.060000	2.000000e-02	0.120000	0.060000	0.070343	0.060000	0	0.040000	0.090000
F13A1	2162	broad.mit.edu	37	6	6318801	6318801	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:6318801G>A	ENST00000264870.3	-	2	362	c.97C>T	c.(97-99)Cag>Tag	p.Q33*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide			62	Ovarian(93;0.0816)	all_hematologic(90;0.152)		L-Glutamine(DB00130)	ACCACGCCCTGAAGCTCCACT	0.602000																								0							SO:0001587	stop_gained			ENST00000264870.3	0	1	hg19	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708509	0.30322	.	.	ENSG00000124491	ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222	.	.	.	4.64	2.72	0.32119	.	0.685255	0.14021	N	0.346817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	6.3836	0.21548	0.1029:0.3924:0.5047:0.0	.	.	.	.	X	33;33;33;71	.	ENSP00000264870:Q33X	Q	-	1	0	F13A1	6263800	0.009000	0.17119	0.141000	0.22245	0.004000	0.04260	1.095000	0.30964	1.130000	0.42092	0.643000	0.83706	CAG		TCGA-RB-A7B8-01A-12D-A33T-08	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	0	0	0	7	673	0	84	0	8.793137e-02	0	41	0	84	2		0	0	0	0	0	2	1	9.797276e-01	7	664	0	84	2		0	0	0	0	84	2	-2.773046	1	1	0	0		1	0	0	0	1.929623	0	0.270000	2.180000	0.260010	0.070000	2.000000e-02	0.150000	0.080000	0.085365	0.070000	0	0.040000	0.110000
DSP	1832	broad.mit.edu	37	6	7580347	7580347	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:7580347G>A	ENST00000379802.3	+	23	4265	c.3924G>A	c.(3922-3924)cgG>cgA	p.R1308R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			ACAATGCCCGGCACAAGCAGT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000379802.3	0	1	hg19	CCDS4501.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	0	0	0	5	563	0	106	0	5.703726e-02	0	35	0	106	2		0	0	0	0	0	2	1	9.357355e-01	5	556	0	106	2		0	0	0	0	106	2	-2.239055	0	1	0	0		1	0	0	0	1.929623	0	0.270000	2.180000	0.260010	0.060000	2.000000e-02	0.140000	0.060000	0.076538	0.060000	0	0.040000	0.110000
RRAGD	58528	broad.mit.edu	37	6	90087442	90087442	+	Missense_Mutation	SNP	C	C	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:90087442C>G	ENST00000369415.4	-	5	1126	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Missense_Mutation_p.E133Q	NM_021244.4	NP_067067.1			Ras-related GTP binding D			15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)			CAGCAGAGCTCATAGGTTTGC	0.353000																								0							SO:0001583	missense			ENST00000369415.4	1	1	hg19	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070456	0.93950	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86571	0.1847	9	0.66056	D	0.02	-13.7325	19.2342	0.93851	0.0:1.0:0.0:0.0	.	284	Q9NQL2	RRAGD_HUMAN	Q	284;133	.	ENSP00000352131:E133Q	E	-	1	0	RRAGD	90144161	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.771000	0.85420	2.553000	0.86117	0.462000	0.41574	GAG		TCGA-RB-A7B8-01A-12D-A33T-08	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	1	0	1	62	348	0	70	0	9.564632e-01	1	29	0	70	2		0	0	0	0	0	2	1	1	61	346	0	70	2		0	0	0	0	70	2	-3.224601	1	1	0	0		1	0	0	0	1.929623	0	0.270000	2.180000	0.260010	0.990000	8.600000e-01	1.000000	1.000000	0.986938	0.990000	1	0.970000	1.000000
EPHB4	2050	broad.mit.edu	37	7	100402884	100402884	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100402884C>T	ENST00000358173.3	-	16	3206	c.2738G>A	c.(2737-2739)gGc>gAc	p.G913D	EPHB4_ENST00000360620.3_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4			47	Lung NSC(181;0.041)|all_lung(186;0.0581)				AAGCCACTCGCCCACAGAGCC	0.587000													GBM(200;2113 3072 25865 52728)											0							SO:0001583	missense			ENST00000358173.3	1	1	hg19	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549037	0.65311	.	.	ENSG00000196411	ENST00000358173	T	0.51325	0.71	5.07	5.07	0.68467	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.51477	D	0.000085	T	0.53334	0.1790	L	0.33624	1.015	0.47374	D	0.999405	D	0.61080	0.989	P	0.59357	0.856	T	0.48328	-0.9045	10	0.32370	T	0.25	.	15.9362	0.79712	0.0:1.0:0.0:0.0	.	913	P54760	EPHB4_HUMAN	D	913	ENSP00000350896:G913D	ENSP00000350896:G913D	G	-	2	0	EPHB4	100240820	0.999000	0.42202	0.987000	0.45799	0.985000	0.73830	4.063000	0.57499	2.372000	0.80975	0.561000	0.74099	GGC		TCGA-RB-A7B8-01A-12D-A33T-08	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	1	0	1	26	128	0	24	1	9.999995e-01	30	95	0	24	2		0	0	0	0	0	2	1	1	26	128	0	21	2		0	0	0	0	24	2	-20.000000	1	1	0	0		1	1	2	3	2.250672	1	0.270000	2.180000	0.356828	0.990000	9.700000e-01	1.000000	1.000000	0.997630	0.990000	1	0.990000	1.000000
SERPINE1	5054	broad.mit.edu	37	7	100780300	100780300	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100780300G>A	ENST00000223095.4	+	8	1263	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1			20	Lung NSC(181;0.136)|all_lung(186;0.182)			Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTCTCAGCCCGCATGGCCCCC	0.582000																								0							SO:0001583	missense			ENST00000223095.4	0	1	hg19	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432084	0.62844	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.24350	1.86;1.86	5.67	5.67	0.87782	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.85945	2.785	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.70016	0.945;0.967	T	0.60505	-0.7250	10	0.72032	D	0.01	.	15.2607	0.73621	0.0:0.0:1.0:0.0	.	354;369	F8WD53;P05121	.;PAI1_HUMAN	H	369;354;146	ENSP00000223095:R369H;ENSP00000396766:R354H	ENSP00000223095:R369H	R	+	2	0	SERPINE1	100567020	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	7.941000	0.87700	2.664000	0.90586	0.555000	0.69702	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	0	0	0	5	621	0	76	0	8.855814e-01	0	486	0	76	2		0	0	0	0	0	2	1	9.375008e-01	5	620	0	74	2		0	0	0	0	76	2	-1.789342	0	1	121412	2	36	1	1	2	3	2.250672	1	0.270000	2.180000	0.356828	0.070000	1.000000e-02	0.150000	0.060000	0.079932	0.070000	0	0.040000	0.110000
RNF133	168433	broad.mit.edu	37	7	122338189	122338189	+	Missense_Mutation	SNP	G	G	A	rs137950690		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:122338189G>A	ENST00000340112.2	-	1	1021	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133			21					GGCTTATAGCGTTCAAAGCAA	0.403000													Colon(198;1778 2057 7449 19869 45985)											0							SO:0001583	missense			ENST00000340112.2	0	1	hg19	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	G	0.871	-0.731875	0.03135	0.0	2.33E-4	ENSG00000188050	ENST00000340112	T	0.43294	0.95	5.53	2.62	0.31277	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.713262	0.12945	U	0.426283	T	0.26011	0.0634	N	0.21282	0.65	0.09310	N	0.999999	B	0.23891	0.093	B	0.20767	0.031	T	0.20306	-1.0279	10	0.62326	D	0.03	.	4.5179	0.11945	0.091:0.4253:0.36:0.1236	.	262	Q8WVZ7	RN133_HUMAN	C	262	ENSP00000344489:R262C	ENSP00000344489:R262C	R	-	1	0	RNF133	122125425	0.051000	0.20477	0.293000	0.24932	0.004000	0.04260	0.822000	0.27352	0.672000	0.31204	-0.424000	0.05967	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	0	0	0	8	722	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	9.891059e-01	7	718	0	98	2		0	0	0	0	98	2	-2.598465	1	1	121412	4	41	1	1	2	3	2.250672	1	0.270000	2.180000	0.356828	0.090000	3.000000e-02	0.180000	0.090000	0.103130	0.090000	0	0.060000	0.140000
TAS2R38	5726	broad.mit.edu	37	7	141673468	141673468	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:141673468G>A	ENST00000547270.1	-	1	105	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38			21	Melanoma(164;0.0171)				GACACAGTGCGGATGCGAGTT	0.443000																								0							SO:0001583	missense			ENST00000547270.1	0	1	hg19	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	3.866	-0.028883	0.07589	0.0	1.16E-4	ENSG00000257138	ENST00000547270	T	0.00816	5.66	5.1	-9.6	0.00553	.	4.375660	0.01228	N	0.008298	T	0.00412	0.0013	N	0.03608	-0.345	0.09310	N	1	B	0.22276	0.067	B	0.04013	0.001	T	0.51220	-0.8733	10	0.15066	T	0.55	.	1.5776	0.02627	0.1848:0.4484:0.1652:0.2016	.	8	P59533	T2R38_HUMAN	C	8	ENSP00000448219:R8C	ENSP00000331291:R8C	R	-	1	0	TAS2R38	141319937	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.787000	0.04618	-1.782000	0.01275	-0.294000	0.09567	CGC		TCGA-RB-A7B8-01A-12D-A33T-08	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	1	0	1	59	518	1	74		0	0	0	1	74	2		0	0	0	0	0	2	1	9.999819e-01	59	515	1	73	24		0	0	0	1	74	2	-2.376785	0	1	121400	1	34	1	1	2	3	2.250672	1	0.270000	2.180000	0.356828	0.850000	6.600000e-01	1.000000	1.000000	0.862080	0.850000	1	0.750000	0.970000
PSMA2	5683	broad.mit.edu	37	7	42957275	42957275	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:42957275C>T	ENST00000223321.4	-	8	667	c.603G>A	c.(601-603)ggG>ggA	p.G201G	PSMA2_ENST00000442788.1_Silent_p.G201G|PSMA2_ENST00000445517.1_Silent_p.G131G	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2			10					CTGTCATTTGCCCTTCAAAGC	0.378000																								0							SO:0001819	synonymous_variant			ENST00000223321.4	0	1	hg19	CCDS5467.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	0	0	0	5	336	1	35	0	3.382081e-05	2	530	1	35	39		0	0	0	0	0	2	0	3.549933e-05	5	334	1	35	27		0	0	0	1	35	2	-2.957537	1	1	0	0		1	1	2	3	2.250672	1	0.270000	2.180000	0.356828	0.130000	4.000000e-02	0.270000	0.120000	0.146290	0.130000	0	0.080000	0.200000
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C	rs145686658	by1000genomes	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	p.T145T(1)		46		Lung NSC(55;0.0846)|all_lung(88;0.183)			GCCTACCAACTGAAAGTGCAG	0.428000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000359626.5	0	1	hg19	CCDS5538.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	0	0	0	6	721	0	107	0	9.939520e-03	0	15	0	107	2		0	0	0	0	0	2	1	9.633777e-01	6	710	0	106	2		0	0	0	0	107	2	-1.817161	0	1	121412	80	43	1	1	2	3	2.250672	1	0.270000	2.180000	0.356828	0.070000	1.000000e-02	0.150000	0.060000	0.080527	0.070000	0	0.040000	0.110000
VPS37D	155382	broad.mit.edu	37	7	73085559	73085559	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:73085559C>T	ENST00000324941.4	+	4	743	c.609C>T	c.(607-609)gcC>gcT	p.A203A	VPS37D_ENST00000451519.1_Silent_p.A118A	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)			2		Lung NSC(55;0.0908)|all_lung(88;0.198)			CCACTGGGGCCGCCCGGGGGC	0.766000																								0							SO:0001819	synonymous_variant			ENST00000324941.4	0	1	hg19	CCDS43596.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	1	0	0	4	66	0	12	0	1.604344e-02	0	3	0	12	2		0	0	0	0	0	2	1	8.923721e-01	4	66	0	12	2		0	0	0	0	12	2	-8.478669	1	1	0	0		1	1	2	3	2.250672	1	0.270000	2.180000	0.356828	0.520000	1.800000e-01	1.000000	1.000000	0.560420	0.520000	0	0.320000	0.800000
TRHR	7201	broad.mit.edu	37	8	110099973	110099973	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:110099973G>A	ENST00000518632.1	+	2	583	c.232G>A	c.(232-234)Gca>Aca	p.A78T	TRHR_ENST00000311762.2_Missense_Mutation_p.A78T			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor			37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		CTTGGTGGCCGCAGGCCTCCC	0.512000																								0							SO:0001583	missense			ENST00000518632.1	0	1	hg19	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571768	0.86542	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.71698	-0.59;-0.59	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.78974	-0.1992	10	0.23302	T	0.38	-37.8444	19.1516	0.93491	0.0:0.0:1.0:0.0	.	78	P34981	TRFR_HUMAN	T	78	ENSP00000430711:A78T;ENSP00000309818:A78T	ENSP00000309818:A78T	A	+	1	0	TRHR	110169149	1.000000	0.71417	0.809000	0.32408	0.898000	0.52572	9.860000	0.99555	2.773000	0.95371	0.655000	0.94253	GCA		TCGA-RB-A7B8-01A-12D-A33T-08	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1	0	0	0	5	481	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	9.364760e-01	5	477	0	76	2		0	0	0	0	78	2	-2.216887	0	1	121412	1	32	1	0	0	0	1.943555	0	0.270000	2.180000	0.266037	0.070000	2.000000e-02	0.170000	0.080000	0.090072	0.070000	0	0.040000	0.120000
HAS2	3037	broad.mit.edu	37	8	122626809	122626809	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:122626809C>T	ENST00000303924.4	-	4	1736	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2		HAS2/PLAG1(10)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)		AATTTTACCCCGGTAGAAGAG	0.413000																								0							SO:0001583	missense			ENST00000303924.4	1	1	hg19	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837061	0.32421	.	.	ENSG00000170961	ENST00000303924	T	0.59083	0.29	6.04	6.04	0.98038	.	0.096875	0.64402	N	0.000001	T	0.48114	0.1482	L	0.37630	1.12	0.50171	D	0.999857	B	0.19583	0.037	B	0.19666	0.026	T	0.48186	-0.9057	10	0.02654	T	1	-10.3761	20.5792	0.99380	0.0:1.0:0.0:0.0	.	400	Q92819	HAS2_HUMAN	Q	400	ENSP00000306991:R400Q	ENSP00000306991:R400Q	R	-	2	0	HAS2	122695990	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.848000	0.55903	2.873000	0.98535	0.561000	0.74099	CGG		TCGA-RB-A7B8-01A-12D-A33T-08	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	1	0	1	130	688	0	147	0	5.416174e-01	0	11	0	147	2		0	0	0	0	0	2	1	1	129	682	0	146	2		0	0	0	0	147	2	-2.416326	0	1	0	0		1	0	0	0	1.943555	0	0.270000	2.180000	0.266037	0.990000	9.800000e-01	1.000000	1.000000	0.999050	0.990000	1	0.990000	1.000000
EPHX2	2053	broad.mit.edu	37	8	27373915	27373915	+	Splice_Site	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:27373915G>A	ENST00000521400.1	+	8	1340	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	EPHX2_ENST00000521780.1_Splice_Site_p.E238K|EPHX2_ENST00000517536.1_Splice_Site_p.E121K|EPHX2_ENST00000518379.1_Splice_Site_p.E272K|EPHX2_ENST00000380476.3_Splice_Site_p.E251K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic			27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)			TGCTCCTCCCGGTGGGTGTGC	0.567000											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant			ENST00000521400.1	0	1	hg19	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299688	0.40694	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.67	5.67	0.87782	Alpha/beta hydrolase fold-1 (1);	0.288097	0.42821	D	0.000645	T	0.65749	0.2721	M	0.80183	2.485	0.80722	D	1	B;B;B	0.25521	0.026;0.109;0.128	B;B;B	0.20955	0.031;0.028;0.032	T	0.63761	-0.6564	10	0.39692	T	0.17	-5.1595	17.2762	0.87116	0.0:0.0:1.0:0.0	.	272;304;304	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	K	304;121;238;251;308;272	ENSP00000430269:E304K;ENSP00000428875:E121K;ENSP00000430302:E238K;ENSP00000369843:E251K;ENSP00000427956:E272K	ENSP00000369843:E251K	E	+	1	0	EPHX2	27429832	1.000000	0.71417	0.736000	0.30914	0.054000	0.15201	5.558000	0.67319	2.677000	0.91161	0.561000	0.74099	GAA		TCGA-RB-A7B8-01A-12D-A33T-08	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4	0	0	0	6	791	1	121	0	9.474816e-03	0	16	1	121	2		0	0	0	0	0	2	0	2.772110e-05	9	786	2	120	30		0	0	0	1	121	2	-1.726731	0	1	121412	9	45	1	0	0	0	1.939885	0	0.270000	2.180000	0.266037	0.050000	1.000000e-02	0.120000	0.060000	0.064345	0.050000	0	0.030000	0.090000
RGS20	8601	broad.mit.edu	37	8	54791937	54791937	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:54791937C>T	ENST00000297313.3	+	2	377	c.285C>T	c.(283-285)ccC>ccT	p.P95P	RGS20_ENST00000522225.1_5'Flank|RGS20_ENST00000344277.6_Intron|RGS20_ENST00000276500.4_5'Flank|RP11-1070A24.2_ENST00000606037.1_RNA	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20			21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		GACCCCCTCCCGAGGCTCCCC	0.726000																								0							SO:0001819	synonymous_variant			ENST00000297313.3	0	1	hg19	CCDS6155.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1	0	0	0	8	609	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	9.887066e-01	8	599	0	92	2		0	0	0	0	93	2	-2.805586	1	1	0	0		1	0	0	0	1.939885	0	0.270000	2.180000	0.266037	0.090000	4.000000e-02	0.180000	0.100000	0.106641	0.090000	0	0.060000	0.140000
DNAJC5B	85479	broad.mit.edu	37	8	66988979	66988979	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:66988979C>T	ENST00000276570.5	+	4	491	c.204C>T	c.(202-204)caC>caT	p.H68H	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	p.H68H(1)		20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		ACAACGCCCACGCAATACTTA	0.428000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000276570.5	0	1	hg19	CCDS6183.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	0	0	0	7	711	0	93	0	1.386963e-04	0	2	0	93	2		0	0	0	0	0	2	1	9.803707e-01	7	708	0	93	2		0	0	0	0	93	2	-2.917093	1	1	0	0		1	0	0	0	1.939885	0	0.270000	2.180000	0.266037	0.070000	2.000000e-02	0.140000	0.080000	0.081553	0.070000	0	0.040000	0.110000
WWP1	11059	broad.mit.edu	37	8	87423766	87423766	+	Splice_Site	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:87423766G>T	ENST00000517970.1	+	9	1031		c.e9-1		WWP1_ENST00000265428.4_Splice_Site|WWP1_ENST00000349423.2_Splice_Site|WWP1_ENST00000341922.2_Splice_Site	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1			31					TCCCTTCTCAGTTAATGGAGA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000517970.1	0	1	hg19	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930378	0.52866	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1564	0.86792	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWP1	87492882	1.000000	0.71417	0.992000	0.48379	0.603000	0.37013	4.394000	0.59671	2.492000	0.84095	0.650000	0.86243	.		TCGA-RB-A7B8-01A-12D-A33T-08	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	0	0	0	8	362	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	9.888312e-01	7	357	0	51	2		0	0	0	0	51	2	-8.050176	1	1	0	0		1	0	0	0	1.939885	0	0.270000	2.180000	0.266037	0.160000	7.000000e-02	0.300000	0.160000	0.176919	0.160000	0	0.110000	0.230000
ABCA1	19	broad.mit.edu	37	9	107620844	107620844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:107620844G>A	ENST00000374736.3	-	7	1073	c.679C>T	c.(679-681)Cga>Tga	p.R227*	ABCA1_ENST00000423487.2_Nonsense_Mutation_p.R227*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1			115				Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CGAAGTACTCGCTCTGCTGCA	0.468000																								0							SO:0001587	stop_gained			ENST00000374736.3	0	1	hg19	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915688	0.92178	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	.	.	.	6.17	3.26	0.37387	.	1.116260	0.06418	N	0.721847	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	8.0132	0.30365	0.0726:0.0:0.5413:0.3861	.	.	.	.	X	227	.	ENSP00000363868:R227X	R	-	1	2	ABCA1	106660665	0.015000	0.18098	0.018000	0.16275	0.002000	0.02628	0.895000	0.28363	0.924000	0.37069	0.655000	0.94253	CGA		TCGA-RB-A7B8-01A-12D-A33T-08	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	0	0	1	90	439	1	103	0	2.059487e-01	0	5	1	103	2		0	0	0	0	0	2	1	1	89	436	1	103	18		0	0	0	1	103	2	-20.000000	1	1	0	0		1	0	1	1	1.636751	1	0.270000	2.180000	0.156069	0.950000	8.300000e-01	1.000000	0.990000	0.949173	0.950000	1	0.890000	0.990000
MELK	9833	broad.mit.edu	37	9	36665452	36665452	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:36665452A>G	ENST00000298048.2	+	14	1466	c.1282A>G	c.(1282-1284)Act>Gct	p.T428A	MELK_ENST00000541717.1_Missense_Mutation_p.T387A|MELK_ENST00000543751.1_Missense_Mutation_p.T396A|MELK_ENST00000536329.1_Missense_Mutation_p.T357A|MELK_ENST00000545008.1_Missense_Mutation_p.T357A|MELK_ENST00000538311.1_Missense_Mutation_p.T234A|MELK_ENST00000536987.1_Missense_Mutation_p.T297A|MELK_ENST00000536860.1_Missense_Mutation_p.T380A	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase			29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)		AAATGTATATACTCCTAAGTC	0.368000													Ovarian(82;980 1317 7225 14391 18624)											0							SO:0001583	missense			ENST00000298048.2	1	1	hg19	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.722290	0.30503	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.71222	-0.37;0.61;0.41;0.94;0.32;-0.55;-0.37;-0.37	5.65	5.65	0.86999	.	0.373797	0.33110	N	0.005277	T	0.64305	0.2586	L	0.54323	1.7	0.30079	N	0.809352	B;B;B;B;B;B;B	0.22276	0.001;0.015;0.002;0.001;0.014;0.067;0.001	B;B;B;B;B;B;B	0.20767	0.002;0.007;0.011;0.006;0.021;0.031;0.002	T	0.58470	-0.7631	10	0.15499	T	0.54	-1.347	13.825	0.63346	1.0:0.0:0.0:0.0	.	348;357;380;387;357;396;428	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	A	428;234;297;357;380;357;387;396	ENSP00000298048:T428A;ENSP00000438226:T234A;ENSP00000439184:T297A;ENSP00000445452:T357A;ENSP00000439792:T380A;ENSP00000443550:T357A;ENSP00000437804:T387A;ENSP00000441596:T396A	ENSP00000298048:T428A	T	+	1	0	MELK	36655452	0.976000	0.34144	0.997000	0.53966	0.749000	0.42624	3.706000	0.54830	2.146000	0.66826	0.528000	0.53228	ACT		TCGA-RB-A7B8-01A-12D-A33T-08	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	1	0	1	68	332	0	65	1	6.323303e-01	5	7	0	65	2		0	0	0	0	0	2	1	1	67	332	0	65	2		0	0	0	0	65	2	-20.000000	1	1	0	0		1	0	0	0	1.933291	0	0.270000	2.180000	0.260010	0.990000	9.800000e-01	1.000000	1.000000	0.998608	0.990000	1	0.990000	1.000000
ANXA1	301	broad.mit.edu	37	9	75775738	75775738	+	Missense_Mutation	SNP	A	A	T	rs111698970		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:75775738A>T	ENST00000376911.1	+	5	1286	c.404A>T	c.(403-405)gAt>gTt	p.D135V	ANXA1_ENST00000257497.6_Missense_Mutation_p.D135V			P04083	ANXA1_HUMAN	annexin A1			8		all_epithelial(88;2.54e-11)		Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	ACTGATGAAGATACTCTAATT	0.358000																								0							SO:0001583	missense			ENST00000376911.1	1	1	hg19	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544955	0.86022	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.03689	3.84;3.84;3.84	5.86	5.86	0.93980	Annexin repeat, conserved site (1);	0.087076	0.85682	D	0.000000	T	0.17323	0.0416	M	0.72353	2.195	0.80722	D	1	D	0.53885	0.963	D	0.69824	0.966	T	0.00150	-1.1986	10	0.44086	T	0.13	.	16.2565	0.82519	1.0:0.0:0.0:0.0	.	135	P04083	ANXA1_HUMAN	V	135;146;135	ENSP00000257497:D135V;ENSP00000412489:D146V;ENSP00000366109:D135V	ENSP00000257497:D135V	D	+	2	0	ANXA1	74965558	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	8.466000	0.90387	2.235000	0.73313	0.533000	0.62120	GAT		TCGA-RB-A7B8-01A-12D-A33T-08	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	1	0	1	135	624	0	113	1	1	151	457	0	113	2		0	0	0	0	0	2	1	1	135	618	0	113	2		0	0	0	0	113	2	-20.000000	1	1	0	0		1	0	0	0	1.929503	0	0.270000	2.180000	0.260010	0.990000	9.900000e-01	1.000000	1.000000	0.999981	0.990000	1	0.990000	1.000000
ARMCX3	51566	broad.mit.edu	37	X	100880318	100880318	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:100880318G>A	ENST00000341189.4	+	5	1215	c.349G>A	c.(349-351)Gtt>Att	p.V117I	ARMCX3_ENST00000471229.2_Missense_Mutation_p.V117I|ARMCX3-AS1_ENST00000454228.1_RNA|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_Missense_Mutation_p.V117I	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3			11					AGATGATACCGTTTTGTCCCC	0.517000																								0							SO:0001583	missense			ENST00000341189.4	1	1	hg19	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.915094	0.00503	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.28895	1.59;1.59	4.08	-5.45	0.02616	Armadillo-like helical (1);	0.708561	0.13313	N	0.397312	T	0.09113	0.0225	N	0.01640	-0.785	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.35748	-0.9776	9	.	.	.	-2.6702	12.8785	0.58003	0.2698:0.0:0.7302:0.0	.	117	Q9UH62	ARMX3_HUMAN	I	117	ENSP00000340672:V117I;ENSP00000439032:V117I	.	V	+	1	0	ARMCX3	100766974	0.031000	0.19500	0.318000	0.25279	0.907000	0.53573	-0.504000	0.06375	-1.484000	0.01856	-2.493000	0.00193	GTT		TCGA-RB-A7B8-01A-12D-A33T-08	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	1	0	0	40	464	0	95	0	8.708759e-01	0	44	0	95	2		0	0	0	0	0	2	1	1	39	459	0	94	2		0	0	0	0	95	2	-10.778100	1	1	0	0		1	0	1	1			0.270000	2.180000	0.270000	0.580000	4.200000e-01	0.770000	0.580000	0.596982	0.580000	0	0.500000	0.680000
CXorf56	63932	broad.mit.edu	37	X	118699217	118699217	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:118699217G>A	ENST00000371594.4	-	1	180	c.102C>T	c.(100-102)tgC>tgT	p.C34C	CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Silent_p.C34C	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56			10					CCATCTGGCCGCACAAACAGT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000371594.4	0	1	hg19	CCDS14579.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	6	649	0	68	0	5.199959e-02	0	33	0	68	2		0	0	0	0	0	2	1	9.644229e-01	7	644	0	67	2		0	0	0	0	68	2	-1.981537	0	1	0	0		1	0	1	1			0.270000	2.180000	0.270000	0.060000	2.000000e-02	0.140000	0.070000	0.078592	0.060000	0	0.040000	0.110000
GPC3	2719	broad.mit.edu	37	X	132730547	132730547	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:132730547G>A	ENST00000370818.3	-	7	1939	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	GPC3_ENST00000394299.2_Silent_p.C521C|GPC3_ENST00000543339.1_Silent_p.C444C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3			36	Acute lymphoblastic leukemia(192;0.000127)				CATCATCACCGCAGTCTCCAC	0.463000			T, D, Mis, N, F, S			Wilms tumour			Simpson-Golabi-Behmel syndrome					yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0							SO:0001819	synonymous_variant	Familial Cancer Database	SGBS	ENST00000370818.3	0	1	hg19	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	2.995	-0.207259	0.06180	.	.	ENSG00000147257	ENST00000406757	.	.	.	4.73	-9.46	0.00597	.	.	.	.	.	T	0.72803	0.3506	.	.	.	0.48040	D	0.999576	.	.	.	.	.	.	T	0.82566	-0.0393	4	.	.	.	.	22.4363	0.99971	0.2327:0.0:0.7673:0.0	.	.	.	.	V	228	.	.	A	-	2	0	GPC3	132558213	0.000000	0.05858	0.008000	0.14137	0.665000	0.39181	-3.320000	0.00513	-3.839000	0.00100	-1.679000	0.00737	GCG		TCGA-RB-A7B8-01A-12D-A33T-08	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	0	0	0	6	854	0	109	0	1.058172e-01	0	66	0	109	2		0	0	0	0	0	2	1	9.649078e-01	6	853	0	109	2		0	0	0	0	109	2	-2.115266	0	1	121410	6	41	1	0	1	1			0.270000	2.180000	0.270000	0.050000	1.000000e-02	0.110000	0.060000	0.059967	0.050000	0	0.030000	0.080000
MAGEC2	51438	broad.mit.edu	37	X	141291654	141291654	+	Silent	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:141291654G>T	ENST00000247452.3	-	3	467	c.120C>A	c.(118-120)tcC>tcA	p.S40S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2			47	Acute lymphoblastic leukemia(192;6.56e-05)				AAGAGGCGGAGGAGGCTTCCT	0.522000										HNSCC(46;0.14)														0							SO:0001819	synonymous_variant			ENST00000247452.3	1	1	hg19	CCDS14678.1																																																																																				TCGA-RB-A7B8-01A-12D-A33T-08	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	1	0	0	54	799	0	140		0	0	0	0	140	2		0	0	0	0	0	2	1	1	51	791	0	139	2		0	0	0	0	140	2	-9.367000	1	1	0	0		1	0	1	1			0.270000	2.180000	0.270000	0.460000	3.500000e-01	0.590000	0.470000	0.474981	0.460000	0	0.400000	0.530000
