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
ADAMTS14	140766	broad.mit.edu	37	10	72489912	72489912	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:72489912C>T	ENST00000373207.1	+	6	1009	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R337C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14			50					GCAGGTGTGTCGCTGGGCACA	0.667000																								0							SO:0001583	missense			ENST00000373207.1	1	1	hg19	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163344	0.94727	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.64260	-0.09;-0.09	4.7	4.7	0.59300	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.959;0.982	D	0.84031	0.0359	10	0.87932	D	0	.	17.8161	0.88634	0.0:1.0:0.0:0.0	.	337;337	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	C	337	ENSP00000362304:R337C;ENSP00000362303:R337C	ENSP00000362303:R337C	R	+	1	0	ADAMTS14	72159918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.739000	0.68622	2.608000	0.88229	0.655000	0.94253	CGC		TCGA-HZ-8637-01A-11D-2396-08	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	1	0	0	35	415	0	112	0	2.175318e-01	1	10	0	112	2		0	0	0	0	0	2	1	1	35	414	0	111	2								-3.318794	1	1	121408	2	33	1	1	2	3	2.066575	0	0.200000	1.850000	0.233716	0.860000	0.590000	1.000000	1.000000	0.861751	0.860000	1	0.710000	1.000000
CTR9	9646	broad.mit.edu	37	11	10776660	10776660	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:10776660A>G	ENST00000361367.2	+	3	726	c.300A>G	c.(298-300)gaA>gaG	p.E100E		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component			40					CTCGGAAAGAAAAGAATAAGG	0.358000																								0							SO:0001819	synonymous_variant			ENST00000361367.2	0	1	hg19	CCDS7805.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	0	0	0	6	615	1	150	0	2.752186e-02	2	88	1	150	4		0	0	0	0	0	2	0	3.611229e-02	6	610	1	149	15								-3.317029	1	1	0	0		1	0	1	1	1.853927	1	0.200000	1.850000	0.111111	0.080000	0.030000	0.180000	0.090000	0.099815	0.080000	0	0.050000	0.130000
HTR3A	3359	broad.mit.edu	37	11	113857759	113857759	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:113857759G>A	ENST00000504030.2	+	8	1574	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	HTR3A_ENST00000535865.1_Missense_Mutation_p.D121N|HTR3A_ENST00000355556.2_Missense_Mutation_p.D415N|HTR3A_ENST00000375498.2_Missense_Mutation_p.D383N|HTR3A_ENST00000506841.2_Missense_Mutation_p.D409N|HTR3A_ENST00000299961.5_Missense_Mutation_p.D362N			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic			36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CAAGACTGATGACTGCTCAGG	0.582000																								0							SO:0001583	missense			ENST00000504030.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.56	1.383357	0.25031	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.83914	-1.78;1.9;-1.78;1.9;-1.78;-1.78	5.5	3.26	0.37387	.	1.090970	0.06727	N	0.775992	T	0.76772	0.4034	L	0.38175	1.15	0.38660	D	0.952058	B;B;B	0.14012	0.002;0.008;0.009	B;B;B	0.19666	0.01;0.012;0.026	T	0.64162	-0.6472	10	0.29301	T	0.29	-20.6259	9.712	0.40251	0.2049:0.0:0.7951:0.0	.	362;415;383	B4DSY6;G5E986;Q7KZM7	.;.;.	N	377;415;383;409;121;362	ENSP00000424189:D377N;ENSP00000347754:D415N;ENSP00000364648:D383N;ENSP00000424776:D409N;ENSP00000437776:D121N;ENSP00000299961:D362N	ENSP00000299961:D362N	D	+	1	0	HTR3A	113362969	0.956000	0.32656	0.839000	0.33178	0.112000	0.19704	1.552000	0.36244	1.459000	0.47892	0.655000	0.94253	GAC		TCGA-HZ-8637-01A-11D-2396-08	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	0	0	0	10	419	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	9.967305e-01	10	413	0	100	2								-9.328989	1	1	0	0		1	1	3	4	2.303692	1	0.200000	1.850000	0.306759	0.300000	0.140000	1.000000	0.260000	0.412372	0.300000	0	0.210000	1.000000
TECTA	7007	broad.mit.edu	37	11	120998885	120998885	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:120998885C>T	ENST00000392793.1	+	9	2470	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	TECTA_ENST00000264037.2_Silent_p.S733S			O75443	TECTA_HUMAN	tectorin alpha		TECTA/TBCEL(2)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)			CCTTCCCCTCCGAGTTCTCCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000392793.1	1	1	hg19	CCDS8434.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1	191	687	0	192	0	4.768854e-02	0	2	0	192	2		0	0	0	0	0	2	1	1	186	683	0	191	2								-3.670058	1	1	121412	9	43	1	1	3	4	2.303692	1	0.200000	1.850000	0.306759	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
OR4C11	219429	broad.mit.edu	37	11	55371698	55371698	+	Missense_Mutation	SNP	C	C	T	rs140943798	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:55371698C>T	ENST00000302231.4	-	1	176	c.152G>A	c.(151-153)cGg>cAg	p.R51Q		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11			33					TCCTAGTGTCCGGCTGGACTT	0.408000																								0							SO:0001583	missense			ENST00000302231.4	1	1	hg19	CCDS31503.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.005	-2.153505	0.00325	0.0	0.001498	ENSG00000172188	ENST00000302231	T	0.01076	5.37	4.34	-3.53	0.04667	GPCR, rhodopsin-like superfamily (1);	0.915015	0.09091	N	0.849832	T	0.00666	0.0022	N	0.05414	-0.055	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.46541	-0.9184	10	0.16896	T	0.51	.	6.9427	0.24502	0.0:0.2633:0.1376:0.5991	.	51	Q6IEV9	OR4CB_HUMAN	Q	51	ENSP00000306651:R51Q	ENSP00000306651:R51Q	R	-	2	0	OR4C11	55128274	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.195000	0.00563	-0.427000	0.07350	-0.701000	0.03672	CGG		TCGA-HZ-8637-01A-11D-2396-08	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	1	0	1	67	547	0	151		0	0	0	0	151	2		0	0	0	0	0	2	1	1	67	537	0	149	2								-2.841672	1	1	113230	134	52	1	0	1	1	1.853927	1	0.200000	1.850000	0.111111	0.910000	0.740000	1.000000	0.970000	0.907134	0.910000	1	0.830000	0.980000
LRRC43	254050	broad.mit.edu	37	12	122669269	122669269	+	Silent	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:122669269G>T	ENST00000339777.4	+	2	382	c.354G>T	c.(352-354)acG>acT	p.T118T	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43			19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				ACCCGCTGACGATCACAGACA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000339777.4	1	1	hg19	CCDS45001.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	1	0	1	16	125	0	45	0	4.068604e-02	1	2	0	45	2		0	0	0	0	0	2	1	9.999450e-01	16	123	0	45	2								-8.977229	1	1	0	0		1	0	0	0	1.982588	0	0.200000	1.850000	0.178645	0.990000	0.660000	1.000000	1.000000	0.950799	0.990000	1	0.860000	1.000000
CAPZA3	93661	broad.mit.edu	37	12	18891410	18891410	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:18891410G>C	ENST00000317658.3	+	1	366	c.208G>C	c.(208-210)Gta>Cta	p.V70L	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3			19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)			TGGAAATCCAGTACTCTTGTC	0.423000																								0							SO:0001583	missense			ENST00000317658.3	1	1	hg19	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661852	0.67700	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000002	T	0.76849	0.4045	M	0.72353	2.195	0.41152	D	0.986031	D	0.63046	0.992	D	0.76071	0.987	T	0.80065	-0.1538	9	0.72032	D	0.01	-16.3283	13.8066	0.63236	0.0:0.0:1.0:0.0	.	70	Q96KX2	CAZA3_HUMAN	L	70	.	ENSP00000326238:V70L	V	+	1	0	CAPZA3	18782677	0.990000	0.36364	0.889000	0.34880	0.991000	0.79684	4.256000	0.58810	2.278000	0.76064	0.462000	0.41574	GTA		TCGA-HZ-8637-01A-11D-2396-08	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	1	0	1	59	513	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	1	59	510	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.090495	0	0.200000	1.850000	0.214145	0.990000	0.810000	1.000000	1.000000	0.976676	0.990000	1	0.930000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-8637-01A-11D-2396-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	11	88	0	18	1	8.135095e-01	9	18	0	18	2	1	1	42	383	0	333	2	1	9.984887e-01	10	87	0	18	2								-7.636344	1	1	0	0		1	0	1	1	1.912163	0	0.200000	1.850000	0.111111	0.810000	0.480000	0.990000	0.940000	0.800523	0.810000	0	0.640000	0.940000
ADCY6	112	broad.mit.edu	37	12	49164673	49164673	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:49164673G>A	ENST00000307885.4	-	19	3826	c.3132C>T	c.(3130-3132)aaC>aaT	p.N1044N	ADCY6_ENST00000357869.3_Silent_p.N991N|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Silent_p.N991N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	p.N1044N(1)		29					AGGTGCTGGCGTTCAGCCCTG	0.567000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000307885.4	0	1	hg19	CCDS8767.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	0	0	0	5	429	0	93	0	2.654719e-01	0	73	0	93	2		0	0	0	0	0	2	1	9.375018e-01	6	427	0	93	2								-4.739982	1	1	0	0		1	0	1	1	1.983498	0	0.200000	1.850000	0.172699	0.110000	0.040000	0.240000	0.110000	0.131610	0.110000	0	0.070000	0.180000
KRT4	3851	broad.mit.edu	37	12	53202186	53202186	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:53202186G>A	ENST00000551956.1	-	6	1509	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	KRT4_ENST00000293774.4_Silent_p.I413I|KRT4_ENST00000458244.2_Silent_p.I319I			P19013	K2C4_HUMAN	keratin 4			29					GGTCAACCGAGATCTGGAGCT	0.498000													Pancreas(190;284 2995 41444 45903)											0							SO:0001819	synonymous_variant			ENST00000551956.1	1	1	hg19	CCDS41787.2																																																																																				TCGA-HZ-8637-01A-11D-2396-08	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	0	0	0	15	508	0	131	0	2.887631e-03	0	3	0	131	2		0	0	0	0	0	2	1	9.998686e-01	15	505	0	130	2								-13.241080	1	1	0	0		1	0	0	0	1.982588	0	0.200000	1.850000	0.178645	0.280000	0.160000	0.440000	0.280000	0.294233	0.280000	0	0.210000	0.360000
ACSS3	79611	broad.mit.edu	37	12	81568670	81568670	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:81568670G>A	ENST00000548058.1	+	8	2112	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H	ACSS3_ENST00000548324.1_Missense_Mutation_p.R83H|ACSS3_ENST00000261206.3_Missense_Mutation_p.R400H			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3			51					AGAGCAATCCGTCAACAGGAC	0.502000																								0							SO:0001583	missense			ENST00000548058.1	1	1	hg19	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332027	0.95733	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.40756	1.02;1.02;1.02	5.83	5.83	0.93111	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	L	0.57130	1.785	0.80722	D	1	P;D	0.89917	0.956;1.0	B;D	0.77004	0.412;0.989	T	0.63769	-0.6562	10	0.72032	D	0.01	-13.3289	20.126	0.97982	0.0:0.0:1.0:0.0	.	83;401	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	H	401;400;83	ENSP00000449535:R401H;ENSP00000261206:R400H;ENSP00000448965:R83H	ENSP00000261206:R400H	R	+	2	0	ACSS3	80092801	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.056000	0.93881	2.749000	0.94314	0.655000	0.94253	CGT		TCGA-HZ-8637-01A-11D-2396-08	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	0	0	0	15	280	0	82	0	2.930162e-01	0	20	0	82	2		0	0	0	0	0	2	1	9.998732e-01	15	277	0	81	2								-16.697130	1	1	121410	5	37	1	0	0	0	1.982588	0	0.200000	1.850000	0.178645	0.500000	0.290000	0.760000	0.480000	0.516527	0.500000	0	0.380000	0.640000
LCP1	3936	broad.mit.edu	37	13	46718595	46718595	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:46718595C>T	ENST00000398576.2	-	14	1623	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	LCP1_ENST00000435666.2_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.R412Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)			34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		ATGATTGACTCGAGGGTTAAC	0.423000			T	BCL6	NHL										Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0							SO:0001583	missense			ENST00000398576.2	1	1	hg19	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492704	0.64074	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.94828	-3.53;-3.53	5.91	5.07	0.68467	Calponin homology domain (5);	0.117460	0.64402	N	0.000014	D	0.89969	0.6869	L	0.33624	1.015	0.80722	D	1	P	0.39060	0.657	B	0.35353	0.201	D	0.88903	0.3354	10	0.37606	T	0.19	-1.5	14.0981	0.65037	0.0:0.9281:0.0:0.0719	.	412	P13796	PLSL_HUMAN	Q	412	ENSP00000315757:R412Q;ENSP00000381581:R412Q	ENSP00000315757:R412Q	R	-	2	0	LCP1	45616596	0.989000	0.36119	0.995000	0.50966	0.996000	0.88848	2.576000	0.46033	1.507000	0.48752	0.555000	0.69702	CGA		TCGA-HZ-8637-01A-11D-2396-08	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	1	0	0	15	346	0	118	1	1	17	1184	0	118	2		0	0	0	0	0	2	1	9.998657e-01	15	341	0	118	2								-2.854798	1	1	0	0		1	0	0	0	2.014613	0	0.200000	1.850000	0.191919	0.410000	0.240000	0.640000	0.400000	0.431288	0.410000	0	0.320000	0.530000
PCDH9	5101	broad.mit.edu	37	13	67802512	67802512	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:67802512C>T	ENST00000377865.2	-	1	195	c.61G>A	c.(61-63)Gca>Aca	p.A21T	PCDH9_ENST00000456367.1_Missense_Mutation_p.A21T|PCDH9_ENST00000544246.1_Missense_Mutation_p.A21T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A21T|PCDH9_ENST00000377861.3_Missense_Mutation_p.A21T			Q9HC56	PCDH9_HUMAN	protocadherin 9	p.A21T(1)		103		Hepatocellular(98;0.0906)|Breast(118;0.107)			TGAGCTATTGCGGAATCCAGC	0.383000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000377865.2	0	1	hg19	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463505	0.26248	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.54866	0.61;0.61;0.55;0.55;0.57	5.82	5.82	0.92795	.	0.104012	0.64402	D	0.000003	T	0.45657	0.1353	L	0.29908	0.895	0.45490	D	0.998456	B;B;B;B	0.21071	0.051;0.0;0.005;0.022	B;B;B;B	0.15870	0.006;0.0;0.014;0.006	T	0.23583	-1.0184	10	0.41790	T	0.15	.	20.1012	0.97876	0.0:1.0:0.0:0.0	.	21;21;21;21	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	T	21	ENSP00000442186:A21T;ENSP00000367096:A21T;ENSP00000401699:A21T;ENSP00000332060:A21T;ENSP00000367092:A21T	ENSP00000332060:A21T	A	-	1	0	PCDH9	66700513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.625000	0.61262	2.754000	0.94517	0.650000	0.86243	GCA		TCGA-HZ-8637-01A-11D-2396-08	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	0	0	0	5	389	0	82	0	7.867789e-04	0	3	0	82	2		0	0	0	0	0	2	1	9.370836e-01	5	388	0	82	2								-3.019464	1	1	0	0		1	0	0	0	2.014613	0	0.200000	1.850000	0.191919	0.130000	0.040000	0.270000	0.130000	0.148399	0.130000	0	0.080000	0.200000
TEP1	7011	broad.mit.edu	37	14	20851408	20851408	+	Silent	SNP	A	A	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:20851408A>C	ENST00000262715.5	-	27	4012	c.3972T>G	c.(3970-3972)tcT>tcG	p.S1324S	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Silent_p.S1216S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1			96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)		GGGCCCGAGCAGAGGCCTCCA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000262715.5	1	1	hg19	CCDS9548.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	1	24	200	0	31	1	9.826646e-01	7	50	0	31	2		0	0	0	0	0	2	1	9.999997e-01	20	197	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.244705	1	0.200000	1.850000	0.272727	0.990000	0.780000	1.000000	1.000000	0.980197	0.990000	1	0.970000	1.000000
SPTBN5	51332	broad.mit.edu	37	15	42147503	42147503	+	Silent	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:42147503G>T	ENST00000320955.6	-	55	9569	c.9342C>A	c.(9340-9342)acC>acA	p.T3114T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5			62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)			CGAGGAGCAGGGTCTCTCGCT	0.682000																								0							SO:0001819	synonymous_variant			ENST00000320955.6	1	1	hg19																																																																																					TCGA-HZ-8637-01A-11D-2396-08	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	1	0	0	13	149	0	36	0	2.178559e-02	0	3	0	36	2		0	0	0	0	0	2	1	9.995706e-01	13	147	0	36	2								-18.375930	1	1	0	0		1	0	0	0	1.932025	0	0.200000	1.850000	0.156118	0.750000	0.430000	1.000000	1.000000	0.765324	0.750000	0	0.580000	0.970000
SPPL2A	84888	broad.mit.edu	37	15	51012246	51012246	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:51012246T>C	ENST00000261854.5	-	14	1653	c.1379A>G	c.(1378-1380)aAg>aGg	p.K460R	SPPL2A_ENST00000559293.1_5'Flank	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A			15					AGGTTGCCCCTTTTTCATCAG	0.408000													Melanoma(50;790 1209 4069 22965 33125)											0							SO:0001583	missense			ENST00000261854.5	0	1	hg19	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	5.356	0.250885	0.10130	.	.	ENSG00000138600	ENST00000261854	T	0.17054	2.3	5.66	4.52	0.55395	.	0.218396	0.51477	D	0.000088	T	0.06508	0.0167	N	0.04746	-0.17	0.20638	N	0.999871	P	0.41475	0.751	B	0.40982	0.345	T	0.14671	-1.0464	10	0.12766	T	0.61	-3.5127	1.9865	0.03437	0.2572:0.0784:0.1375:0.5268	.	460	Q8TCT8	PSL2_HUMAN	R	460	ENSP00000261854:K460R	ENSP00000261854:K460R	K	-	2	0	AC012100.1	48799538	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	2.041000	0.41213	0.955000	0.37878	0.477000	0.44152	AAG		TCGA-HZ-8637-01A-11D-2396-08	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	0	0	0	6	437	0	112	0	9.021831e-01	1	304	0	112	2		0	0	0	0	0	2	1	9.642191e-01	6	433	0	112	2								-2.624012	1	1	0	0		1	0	0	0	1.914572	0	0.200000	1.850000	0.148936	0.130000	0.050000	0.260000	0.130000	0.145963	0.130000	0	0.080000	0.200000
HSF4	3299	broad.mit.edu	37	16	67203674	67203674	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:67203674A>G	ENST00000521374.1	+	13	1465	c.1465A>G	c.(1465-1467)Agt>Ggt	p.S489G	NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.S459G|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000421453.1_Missense_Mutation_p.S459G|HSF4_ENST00000264009.8_Missense_Mutation_p.S489G			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4			12		Ovarian(137;0.0563)			CCCGGAAGCCAGTCCCTCCCC	0.667000											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000521374.1	1	1	hg19	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.29|11.29	1.593884|1.593884	0.28445|0.28445	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.63|4.63	3.47|3.47	0.39725|0.39725	.|.	.|0.322852	.|0.26812	.|N	.|0.022370	T|T	0.24509|0.24509	0.0594|0.0594	N|N	0.19112|0.19112	0.55|0.55	0.25125|0.25125	N|N	0.990618|0.990618	.|B;B	.|0.17268	.|0.021;0.012	.|B;B	.|0.21151	.|0.033;0.014	T|T	0.13656|0.13656	-1.0501|-1.0501	5|9	.|0.29301	.|T	.|0.29	-17.1419|-17.1419	6.2709|6.2709	0.20953|0.20953	0.8712:0.0:0.1288:0.0|0.8712:0.0:0.1288:0.0	.|.	.|459;489	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	R|G	220;132|459;489;413;489	.|.	.|ENSP00000264009:S489G	Q|S	+|+	2|1	0|0	HSF4|HSF4	65761175|65761175	0.525000|0.525000	0.26290|0.26290	0.986000|0.986000	0.45419|0.45419	0.152000|0.152000	0.21847|0.21847	0.176000|0.176000	0.16782|0.16782	0.841000|0.841000	0.35020|0.35020	0.460000|0.460000	0.39030|0.39030	CAG|AGT		TCGA-HZ-8637-01A-11D-2396-08	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	1	0	1	36	599	0	180	1	9.694871e-01	23	71	0	180	2		0	0	0	0	0	2	1	1	35	592	0	180	2								-20.000000	1	1	0	0		1	0	0	0	1.978917	0	0.200000	1.850000	0.176955	0.540000	0.390000	0.730000	0.550000	0.560454	0.540000	0	0.460000	0.650000
WWP2	11060	broad.mit.edu	37	16	69832593	69832593	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:69832593G>A	ENST00000359154.2	+	3	180	c.79G>A	c.(79-81)Gca>Aca	p.A27T	WWP2_ENST00000356003.2_Missense_Mutation_p.A27T|WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000569174.1_Missense_Mutation_p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2			42					AGTGGTGTCCGCAAAGCCCAA	0.527000											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000359154.2	0	1	hg19	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551721	0.86127	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.80738	-1.41;-1.41;-1.41	5.76	5.76	0.90799	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.198406	0.45606	D	0.000349	T	0.76054	0.3934	M	0.67397	2.05	0.80722	D	1	P	0.46020	0.871	B	0.32583	0.148	T	0.78339	-0.2242	9	.	.	.	.	16.6952	0.85333	0.0:0.0:1.0:0.0	.	27	O00308	WWP2_HUMAN	T	27	ENSP00000352069:A27T;ENSP00000396871:A27T;ENSP00000348283:A27T	.	A	+	1	0	WWP2	68390094	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.778000	0.62368	2.713000	0.92767	0.655000	0.94253	GCA		TCGA-HZ-8637-01A-11D-2396-08	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	0	0	0	7	735	0	178	0	1.124622e-01	0	52	0	178	2	0	3.263101e-01	4	506	1	374	7	1	9.801817e-01	7	730	0	176	2								-1.702172	0	1	0	0		1	0	0	0	1.978917	0	0.200000	1.850000	0.176955	0.090000	0.030000	0.180000	0.090000	0.103864	0.090000	0	0.060000	0.140000
ANKRD11	29123	broad.mit.edu	37	16	89341354	89341354	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:89341354G>A	ENST00000301030.4	-	11	8041	c.7581C>T	c.(7579-7581)atC>atT	p.I2527I	ANKRD11_ENST00000378330.2_Silent_p.I2527I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			CACAGGATACGATCAGCTTCT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000301030.4	1	1	hg19	CCDS32513.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1	45	338	0	88	1	9.971774e-01	17	52	0	88	2		0	0	0	0	0	2	1	1	43	333	0	87	2								-20.000000	1	1	121410	1	31	1	0	1	1	1.852776	1	0.200000	1.850000	0.111111	0.920000	0.730000	1.000000	0.990000	0.910192	0.920000	1	0.830000	0.980000
ABCA10	10349	broad.mit.edu	37	17	67144973	67144973	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:67144973G>A	ENST00000269081.4	-	40	5536	c.4627C>T	c.(4627-4629)Cct>Tct	p.P1543S	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10			81	Breast(10;6.95e-12)				TCATTTTAAGGGTCTTCCTGT	0.338000																								0							SO:0001583	missense			ENST00000269081.4	1	1	hg19	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225136	0.39300	.	.	ENSG00000154263	ENST00000269081	D	0.88586	-2.4	3.81	0.564	0.17302	.	.	.	.	.	D	0.88295	0.6398	L	0.29908	0.895	0.19775	N	0.999955	D;D	0.76494	0.994;0.999	P;D	0.69142	0.878;0.962	T	0.77186	-0.2680	9	0.87932	D	0	.	5.6355	0.17534	0.3789:0.0:0.6211:0.0	.	535;1543	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	S	1543	ENSP00000269081:P1543S	ENSP00000269081:P1543S	P	-	1	0	ABCA10	64656568	0.128000	0.22383	0.004000	0.12327	0.010000	0.07245	0.205000	0.17356	0.216000	0.20781	-0.267000	0.10333	CCT		TCGA-HZ-8637-01A-11D-2396-08	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	1	0	0	14	277	0	85	0	1.984003e-01	0	16	0	85	2		0	0	0	0	0	2	1	9.997504e-01	13	274	0	84	2								-3.213629	1	1	0	0		1	0	1	1	1.916763	1	0.200000	1.850000	0.111111	0.430000	0.240000	0.670000	0.420000	0.448098	0.430000	0	0.330000	0.550000
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		TCGA-HZ-8637-01A-11D-2396-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	81	319	0	116	1	1	77	73	0	116	2	1	1	193	819	0	793	2	1	1	81	315	0	115	2								-2.964390	1	1	121412	1	39	1	0	2	2	2.044442	1	0.200000	1.850000	0.200000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
AQP4	361	broad.mit.edu	37	18	24436320	24436320	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:24436320C>T	ENST00000383168.4	-	5	955	c.827G>A	c.(826-828)aGc>aAc	p.S276N	AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Missense_Mutation_p.S254N|AQP4_ENST00000581374.1_Missense_Mutation_p.S254N|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4			11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)				CTCCATGTAGCTTCCTTTTGT	0.488000																								0							SO:0001583	missense			ENST00000383168.4	0	1	hg19	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806238	0.31961	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.85955	-2.05	5.75	3.87	0.44632	.	0.399736	0.30492	N	0.009517	T	0.65037	0.2653	N	0.08118	0	0.23401	N	0.997751	B	0.02656	0.0	B	0.06405	0.002	T	0.44283	-0.9338	10	0.31617	T	0.26	.	3.4375	0.07452	0.0:0.4876:0.278:0.2344	.	276	P55087	AQP4_HUMAN	N	276;256;172	ENSP00000372654:S276N	ENSP00000372654:S276N	S	-	2	0	AQP4	22690318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.608000	0.36847	2.717000	0.92951	0.650000	0.86243	AGC		TCGA-HZ-8637-01A-11D-2396-08	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	0	0	0	22	1411	0	363	0	0	1	0	0	363	2		0	0	0	0	0	2	1	9.999985e-01	22	1397	0	361	2								-2.841789	1	1	0	0		1	1	2	3	2.099616	0	0.200000	1.850000	0.215686	0.160000	0.090000	1.000000	0.160000	0.289947	0.160000	0	0.120000	0.250000
TYK2	7297	broad.mit.edu	37	19	10476252	10476252	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:10476252C>G	ENST00000525621.1	-	7	1433	c.952G>C	c.(952-954)Gtg>Ctg	p.V318L	TYK2_ENST00000529370.1_Missense_Mutation_p.V318L|TYK2_ENST00000264818.6_Missense_Mutation_p.V318L|TYK2_ENST00000524462.1_Missense_Mutation_p.V133L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2			64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		GTGCCTGTCACCAGCACCTCG	0.677000																								0							SO:0001583	missense			ENST00000525621.1	0	1	hg19	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.086512|4.086512	0.76642|0.76642	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370|ENST00000525220	D;D;D;D|.	0.87650|.	-1.59;-1.56;-1.56;-2.28|.	5.18|5.18	5.18|5.18	0.71444|0.71444	FERM domain (1);|.	0.130327|.	0.32218|.	N|.	0.006403|.	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.81682|0.81682	2.555|2.555	0.54753|0.54753	D|D	0.999981|0.999981	D;D|.	0.67145|.	0.994;0.996|.	P;P|.	0.60286|.	0.804;0.872|.	T|T	0.78966|0.78966	-0.1995|-0.1995	10|5	0.87932|.	D|.	0|.	-30.7247|-30.7247	16.2126|16.2126	0.82170|0.82170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	318;318|.	E9PPF2;P29597|.	.;TYK2_HUMAN|.	L|C	133;318;318;65;318|96	ENSP00000433203:V133L;ENSP00000431885:V318L;ENSP00000264818:V318L;ENSP00000432728:V318L|.	ENSP00000264818:V318L|.	V|W	-|-	1|3	0|0	TYK2|TYK2	10337252|10337252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.489000|0.489000	0.33432|0.33432	4.262000|4.262000	0.58847|0.58847	2.422000|2.422000	0.82143|0.82143	0.561000|0.561000	0.74099|0.74099	GTG|TGG		TCGA-HZ-8637-01A-11D-2396-08	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1	0	0	0	7	497	0	147	1	5.030247e-01	2	109	0	147	2		0	0	0	0	0	2	1	9.796081e-01	6	490	0	147	2								-6.200647	1	1	0	0		1	0	1	1	1.987759	0	0.200000	1.850000	0.169263	0.130000	0.050000	0.260000	0.130000	0.150775	0.130000	0	0.090000	0.200000
LTBP4	8425	broad.mit.edu	37	19	41120241	41120241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:41120241C>T	ENST00000308370.7	+	22	2902	c.2902C>T	c.(2902-2904)Cga>Tga	p.R968*	LTBP4_ENST00000545697.1_Nonsense_Mutation_p.R421*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.R931*|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.R901*|LTBP4_ENST00000243562.9_Nonsense_Mutation_p.R66*|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4			1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		ATGTCGCGAGCGAGGCCCAGC	0.662000																								0							SO:0001587	stop_gained			ENST00000308370.7	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	40	8.375412	0.98784	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	.	.	.	4.42	3.32	0.38043	.	0.436821	0.16974	N	0.191978	.	.	.	.	.	.	0.25981	N	0.982375	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	2.7137	0.05181	0.1743:0.5273:0.1922:0.1063	.	.	.	.	X	931;421;968;901;66	.	ENSP00000204005:R931X	R	+	1	2	LTBP4	45812081	0.474000	0.25886	0.998000	0.56505	0.950000	0.60333	0.304000	0.19228	2.280000	0.76307	0.455000	0.32223	CGA		TCGA-HZ-8637-01A-11D-2396-08	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	0	6	346	0	97	0	7.568489e-01	1	154	0	97	2		0	0	0	0	0	2	1	9.643740e-01	6	343	0	96	2								-6.193536	1	1	0	0		1	1	2	3	2.052763	0	0.200000	1.850000	0.207136	0.190000	0.070000	1.000000	0.170000	0.255725	0.190000	0	0.120000	0.300000
ZNF576	79177	broad.mit.edu	37	19	44103397	44103397	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:44103397G>A	ENST00000336564.4	+	3	654	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	ZNF576_ENST00000391965.2_Missense_Mutation_p.R167Q|SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000525771.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000533118.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000528387.1_Missense_Mutation_p.R167Q	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576			2		Prostate(69;0.0199)			CGGCATGCCCGGGGGGAGCTC	0.622000																								0							SO:0001583	missense			ENST00000336564.4	1	1	hg19	CCDS12625.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013050	0.75161	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01347	4.99;4.99;4.99;4.99;4.99;4.99	4.04	3.01	0.34805	Zinc finger, C2H2 (1);	0.190264	0.34580	N	0.003841	T	0.01189	0.0039	L	0.41236	1.265	0.80722	D	1	P	0.47106	0.89	B	0.31547	0.132	T	0.67738	-0.5593	10	0.66056	D	0.02	-20.071	7.5009	0.27518	0.1158:0.0:0.8842:0.0	.	167	Q9H609	ZN576_HUMAN	Q	167	ENSP00000375827:R167Q;ENSP00000436182:R167Q;ENSP00000435899:R167Q;ENSP00000435934:R167Q;ENSP00000435463:R167Q;ENSP00000337852:R167Q	ENSP00000337852:R167Q	R	+	2	0	ZNF576	48795237	0.064000	0.20934	0.993000	0.49108	0.676000	0.39594	1.784000	0.38674	1.306000	0.44926	0.655000	0.94253	CGG		TCGA-HZ-8637-01A-11D-2396-08	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	1	0	0	13	253	0	58	1	9.233555e-01	11	78	0	58	2		0	0	0	0	0	2	1	9.993556e-01	13	237	0	54	2								-2.855906	1	1	121406	2	32	1	1	2	3	2.084900	0	0.200000	1.850000	0.212598	0.530000	0.290000	1.000000	0.500000	0.583222	0.530000	0	0.390000	0.780000
SIGLEC9	27180	broad.mit.edu	37	19	51629104	51629104	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:51629104G>A	ENST00000250360.3	+	2	739	c.672G>A	c.(670-672)acG>acA	p.T224T	SIGLEC9_ENST00000440804.3_Silent_p.T224T	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9			45		all_neural(266;0.0529)			GCGTGACCACGAACAAGACCG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000250360.3	0	1	hg19	CCDS12825.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	0	0	0	6	680	0	171	0	4.545529e-02	0	32	0	171	2		0	0	0	0	0	2	1	9.636218e-01	6	671	0	166	2								-2.732389	1	1	121412	21	46	1	1	2	3	2.071109	0	0.200000	1.850000	0.210267	0.090000	0.030000	1.000000	0.090000	0.196056	0.090000	0	0.060000	0.170000
NLRP12	91662	broad.mit.edu	37	19	54314419	54314419	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:54314419T>C	ENST00000324134.6	-	3	662	c.494A>G	c.(493-495)gAg>gGg	p.E165G	NLRP12_ENST00000535162.1_Missense_Mutation_p.E165G|NLRP12_ENST00000354278.3_Missense_Mutation_p.E165G|NLRP12_ENST00000391772.1_Missense_Mutation_p.E165G|NLRP12_ENST00000345770.5_Missense_Mutation_p.E165G|NLRP12_ENST00000391773.1_Missense_Mutation_p.E165G|NLRP12_ENST00000351894.4_Missense_Mutation_p.E165G|NLRP12_ENST00000391775.3_Missense_Mutation_p.E165G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12			80	Ovarian(34;0.19)				GTTTGAGTGCTCCTTCACCAG	0.612000																								0							SO:0001583	missense			ENST00000324134.6	0	1	hg19	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.998559	0.54147	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	4.25	3.21	0.36854	.	0.156011	0.29707	N	0.011410	D	0.90745	0.7095	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.66716	0.922;0.946;0.922;0.946	D	0.89923	0.4060	10	0.72032	D	0.01	.	5.111	0.14809	0.0:0.221:0.0:0.7789	.	165;165;165;165	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	G	165	ENSP00000319377:E165G;ENSP00000438030:E165G;ENSP00000340473:E165G;ENSP00000346231:E165G;ENSP00000375655:E165G;ENSP00000375653:E165G;ENSP00000375652:E165G	ENSP00000319377:E165G	E	-	2	0	NLRP12	59006231	0.002000	0.14202	0.979000	0.43373	0.937000	0.57800	1.332000	0.33805	1.716000	0.51395	0.254000	0.18369	GAG		TCGA-HZ-8637-01A-11D-2396-08	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	0	0	0	5	607	1	143	0	1.112259e-04	0	2	1	143	2		0	0	0	0	0	2	0	1.783473e-02	5	596	1	142	15								-3.286626	1	1	0	0		1	1	2	3	2.088948	0	0.200000	1.850000	0.213373	0.090000	0.020000	1.000000	0.090000	0.218211	0.090000	0	0.050000	0.190000
NLRP7	199713	broad.mit.edu	37	19	55450705	55450705	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:55450705G>A	ENST00000590030.1	-	3	1522	c.1482C>T	c.(1480-1482)gcC>gcT	p.A494A	NLRP7_ENST00000446217.1_Silent_p.A522A|NLRP7_ENST00000588756.1_Silent_p.A494A|NLRP7_ENST00000592784.1_Silent_p.A494A|NLRP7_ENST00000340844.2_Silent_p.A494A|NLRP7_ENST00000328092.5_Silent_p.A494A|NLRP7_ENST00000448121.2_Silent_p.A494A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7			73					CGATGTCCCAGGCGTGGCCGT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000590030.1	1	1	hg19	CCDS33109.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	0	0	0	14	483	0	117	0	2.956655e-02	0	9	0	117	2		0	0	0	0	0	2	1	9.997312e-01	14	475	0	117	2								-12.672340	1	1	121412	3	36	1	1	2	3	2.104591	0	0.200000	1.850000	0.216454	0.310000	0.160000	1.000000	0.290000	0.414235	0.310000	0	0.230000	0.560000
ZNF749	388567	broad.mit.edu	37	19	57956396	57956396	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:57956396T>C	ENST00000334181.4	+	3	2130	c.1880T>C	c.(1879-1881)cTg>cCg	p.L627P	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749			13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			CGCTGTACACTGAGTAGACAT	0.363000																								0							SO:0001583	missense			ENST00000334181.4	0	1	hg19	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521528	0.44866	.	.	ENSG00000186230	ENST00000334181	T	0.53857	0.6	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73009	0.3532	M	0.86740	2.835	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60042	-0.7340	9	0.87932	D	0	.	9.3548	0.38159	0.0:0.0:0.0:1.0	.	627	O43361	ZN749_HUMAN	P	627	ENSP00000333980:L627P	ENSP00000333980:L627P	L	+	2	0	ZNF749	62648208	0.071000	0.21146	0.001000	0.08648	0.364000	0.29643	2.842000	0.48230	1.069000	0.40788	0.260000	0.18958	CTG		TCGA-HZ-8637-01A-11D-2396-08	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	0	0	0	14	571	0	144	1	2.188233e-02	2	7	0	144	2		0	0	0	0	0	2	1	9.997545e-01	14	570	0	144	2								-11.568430	1	1	0	0		1	1	2	3	2.104591	0	0.200000	1.850000	0.216454	0.260000	0.140000	1.000000	0.240000	0.375995	0.260000	0	0.190000	0.480000
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TCATGGAAAAAGGGATAGCTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	0	1	hg19	CCDS54212.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0	5	466	1	120	0	0	0	1	1	120	2		0	0	0	0	0	2	0	1.919073e-02	5	465	1	119	15								-2.332097	0	1	0	0		1	0	1	1	1.987759	0	0.200000	1.850000	0.169263	0.100000	0.030000	0.220000	0.100000	0.120889	0.100000	0	0.060000	0.170000
PBXIP1	57326	broad.mit.edu	37	1	154918663	154918663	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:154918663T>A	ENST00000368463.3	-	10	1558	c.1487A>T	c.(1486-1488)gAa>gTa	p.E496V	PBXIP1_ENST00000368465.1_Missense_Mutation_p.E467V|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000539880.1_Missense_Mutation_p.E323V|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E341V	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1			24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)		CCGGCCAGATTCTTCCTTCTT	0.572000																								0							SO:0001583	missense			ENST00000368463.3	0	1	hg19	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	T	9.099	1.003675	0.19121	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.16743	2.33;2.32;2.4;2.35	5.0	-0.118	0.13547	.	0.910077	0.09504	N	0.793175	T	0.05868	0.0153	L	0.46157	1.445	0.25606	N	0.986545	P	0.49358	0.923	P	0.46110	0.504	T	0.18967	-1.0320	10	0.41790	T	0.15	-1.4959	1.4242	0.02319	0.1407:0.1709:0.1462:0.5422	.	496	Q96AQ6	PBIP1_HUMAN	V	467;496;496;323;272;341	ENSP00000357450:E467V;ENSP00000357448:E496V;ENSP00000440142:E323V;ENSP00000438584:E341V	ENSP00000295523:E496V	E	-	2	0	PBXIP1	153185287	0.002000	0.14202	0.074000	0.20217	0.034000	0.12701	-0.111000	0.10807	-0.172000	0.10779	-0.377000	0.06932	GAA		TCGA-HZ-8637-01A-11D-2396-08	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	0	0	0	16	1845	0	427	1	9.745784e-01	20	674	0	427	2		0	0	0	0	0	2		0	0	0	0	0	2								-7.452377	1	0	0	0		1	2	2	4	2.217894	1	0.200000	1.850000	0.270073	0.100000	0.040000	1.000000	0.090000	0.317810	0.100000	0	0.070000	1.000000
ARHGEF11	9826	broad.mit.edu	37	1	156914928	156914928	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:156914928C>T	ENST00000361409.2	-	29	3496	c.2754G>A	c.(2752-2754)aaG>aaA	p.K918K	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.K334K|ARHGEF11_ENST00000368194.3_Silent_p.K958K	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11			81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				CATTCACATACTTGAGAATCT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000361409.2	1	1	hg19	CCDS1162.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	1	0	1	124	746	0	162	1	9.999996e-01	32	91	0	162	2		0	0	0	0	0	2	1	1	123	741	0	159	2								-20.000000	1	1	0	0		1	2	2	4	2.217894	1	0.200000	1.850000	0.270073	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ASPM	259266	broad.mit.edu	37	1	197072159	197072159	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:197072159C>T	ENST00000367409.4	-	18	6478	c.6222G>A	c.(6220-6222)caG>caA	p.Q2074Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	p.Q2074Q(1)		165					GATACCATCTCTGAATTATAA	0.323000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000367409.4	1	1	hg19	CCDS1389.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	0	21	689	0	103	1	1.173547e-01	2	17	0	103	2		0	0	0	0	0	2	1	9.999973e-01	21	684	0	103	2								-2.936055	1	1	0	0		1	2	2	4	2.217894	1	0.200000	1.850000	0.270073	0.350000	0.210000	1.000000	0.330000	0.497786	0.350000	0	0.270000	1.000000
NUDC	10726	broad.mit.edu	37	1	27269375	27269375	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:27269375T>C	ENST00000321265.5	+	6	683	c.560T>C	c.(559-561)tTc>tCc	p.F187S		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein			8					GCGGTCCCTTTCTGTGTGAAC	0.617000																								0							SO:0001583	missense			ENST00000321265.5	1	1	hg19	CCDS292.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.450465	0.63290	.	.	ENSG00000090273	ENST00000435827;ENST00000321265	T	0.76578	-1.03	5.37	5.37	0.77165	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	M	0.73962	2.25	0.80722	D	1	P;P	0.49090	0.919;0.732	P;P	0.54499	0.754;0.551	D	0.86304	0.1682	10	0.59425	D	0.04	-1.6956	15.4283	0.75072	0.0:0.0:0.0:1.0	.	138;187	Q9H2R7;Q9Y266	.;NUDC_HUMAN	S	191;187	ENSP00000319664:F187S	ENSP00000319664:F187S	F	+	2	0	NUDC	27141962	1.000000	0.71417	0.939000	0.37840	0.122000	0.20287	7.697000	0.84279	2.056000	0.61249	0.451000	0.29950	TTC		TCGA-HZ-8637-01A-11D-2396-08	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2	1	0	1	24	220	0	57	1	1	122	278	0	57	2		0	0	0	0	0	2	1	9.999997e-01	23	216	0	55	2								-20.000000	1	1	0	0		1	0	0	0	2.013241	0	0.200000	1.850000	0.190283	0.960000	0.640000	1.000000	1.000000	0.918726	0.960000	1	0.790000	1.000000
RPA2	6118	broad.mit.edu	37	1	28240575	28240575	+	Splice_Site	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:28240575G>A	ENST00000373912.3	-	2	415	c.116C>T	c.(115-117)tCa>tTa	p.S39L	RPA2_ENST00000313433.7_Splice_Site_p.S127L|RPA2_ENST00000373909.3_Splice_Site_p.S47L	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa			11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)			TCAACCTACTGATTTCTTTTC	0.493000								Direct reversal of damage;Nucleotide excision repair (NER)																0							SO:0001630	splice_region_variant			ENST00000373912.3	0	1	hg19	CCDS314.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126577	0.56721	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.25085	2.12;2.12;2.09;1.82	4.59	4.59	0.56863	.	0.415066	0.27088	N	0.020998	T	0.31482	0.0798	L	0.53249	1.67	0.42689	D	0.993576	B;P	0.35944	0.161;0.529	B;B	0.39840	0.081;0.311	T	0.20706	-1.0267	10	0.59425	D	0.04	-0.0166	16.5256	0.84330	0.0:0.0:1.0:0.0	.	39;47	P15927;P15927-2	RFA2_HUMAN;.	L	39;47;127;43	ENSP00000363021:S39L;ENSP00000363017:S47L;ENSP00000363015:S127L;ENSP00000387649:S43L	ENSP00000363015:S127L	S	-	2	0	RPA2	28113162	0.998000	0.40836	0.966000	0.40874	0.153000	0.21895	2.806000	0.47947	2.261000	0.74972	0.555000	0.69702	TCA		TCGA-HZ-8637-01A-11D-2396-08	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	0	0	0	5	225	0	56	1	9.675937e-01	5	284	0	56	2		0	0	0	0	0	2	1	9.367836e-01	5	223	0	56	2								-6.462785	1	1	0	0		1	0	0	0	2.013241	0	0.200000	1.850000	0.190283	0.230000	0.080000	0.460000	0.210000	0.250808	0.230000	0	0.140000	0.340000
PARK7	11315	broad.mit.edu	37	1	8031011	8031011	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:8031011G>A	ENST00000493678.1	+	5	377	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	PARK7_ENST00000377488.1_Missense_Mutation_p.A104T|PARK7_ENST00000338639.5_Missense_Mutation_p.A104T|PARK7_ENST00000377493.5_Missense_Mutation_p.A84T|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377491.1_Missense_Mutation_p.A104T			Q99497	PARK7_HUMAN	parkinson protein 7			1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)			CCTGATAGCCGCCATCTGTGC	0.488000																								0		GRCh37	CM032052	PARK7	M		SO:0001583	missense			ENST00000493678.1	0	1	hg19	CCDS93.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592116	0.86953	.	.	ENSG00000116288	ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.11	5.11	0.69529	ThiJ/PfpI (1);	0.098549	0.64402	D	0.000001	D	0.92805	0.7712	M	0.90145	3.09	0.80722	D	1	D	0.64830	0.994	D	0.63488	0.915	D	0.93915	0.7200	10	0.72032	D	0.01	.	14.4721	0.67523	0.0:0.0:1.0:0.0	.	104	Q99497	PARK7_HUMAN	T	104	ENSP00000340278:A104T;ENSP00000418770:A104T;ENSP00000366711:A104T;ENSP00000366708:A104T	ENSP00000340278:A104T	A	+	1	0	PARK7	7953598	1.000000	0.71417	0.970000	0.41538	0.583000	0.36354	8.154000	0.89641	2.542000	0.85734	0.650000	0.86243	GCC		TCGA-HZ-8637-01A-11D-2396-08	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003577.1	0	0	0	5	413	0	102	1	9.998995e-01	3	2183	0	102	2		0	0	0	0	0	2	1	9.375019e-01	6	411	0	102	2								-2.319697	0	1	121412	41	47	1	0	1	1	2.023824	0	0.200000	1.850000	0.195980	0.120000	0.040000	0.260000	0.120000	0.140753	0.120000	0	0.070000	0.190000
SLC12A5	57468	broad.mit.edu	37	20	44685057	44685057	+	Silent	SNP	C	C	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:44685057C>A	ENST00000454036.2	+	23	3082	c.3033C>A	c.(3031-3033)tcC>tcA	p.S1011S	SLC12A5_ENST00000243964.3_Silent_p.S988S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5			80		Myeloproliferative disorder(115;0.0122)		Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTCCCCGTCCCCAGGGGAGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000454036.2	0	1	hg19	CCDS46610.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	0	0	0	5	211	0	57	0	8.797285e-04	0	2	0	57	2		0	0	0	0	0	2	1	9.367370e-01	5	209	0	57	2								-6.948549	1	1	0	0		1	1	2	3	2.082053	0	0.200000	1.850000	0.212598	0.270000	0.090000	1.000000	0.240000	0.366043	0.270000	0	0.160000	0.500000
ZNF831	128611	broad.mit.edu	37	20	57766652	57766652	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:57766652C>T	ENST00000371030.2	+	1	578	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				CACAGGCGGACGCAGACGCAC	0.662000																								0							SO:0001583	missense			ENST00000371030.2	0	1	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690629	0.48097	.	.	ENSG00000124203	ENST00000371030	T	0.31510	1.49	5.41	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42832	0.1220	L	0.27053	0.805	0.41770	D	0.989768	D	0.89917	1.0	D	0.85130	0.997	T	0.45614	-0.9249	9	0.87932	D	0	-12.0165	14.5325	0.67936	0.1475:0.8525:0.0:0.0	.	193	Q5JPB2	ZN831_HUMAN	M	193	ENSP00000360069:T193M	ENSP00000360069:T193M	T	+	2	0	ZNF831	57200047	1.000000	0.71417	0.993000	0.49108	0.156000	0.22039	7.755000	0.85180	1.259000	0.44117	0.561000	0.74099	ACG		TCGA-HZ-8637-01A-11D-2396-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	0	0	6	766	0	175	0	0	0	1	0	175	2		0	0	0	0	0	2	1	9.625691e-01	6	749	0	174	2								-3.190266	1	1	0	0		1	1	2	3	2.082053	0	0.200000	1.850000	0.212598	0.080000	0.020000	1.000000	0.080000	0.205699	0.080000	0	0.050000	0.160000
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	p.S34F(45)|p.S34Y(12)		126					GTGCAACCGAGAGCACCTGTC	0.358000			Mis		CLL, MDS										Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)						SO:0001583	missense			ENST00000291552.4	1	1	hg19	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		TCGA-HZ-8637-01A-11D-2396-08	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	1	0	1	24	232	0	81	1	1	54	372	0	81	2	1	1	51	495	0	366	2	1	9.999997e-01	24	228	0	80	2								-3.142704	1	1	121412	5	36	1	0	0	0	1.940263	0	0.200000	1.850000	0.159664	0.880000	0.590000	1.000000	1.000000	0.871420	0.880000	1	0.720000	1.000000
RNF149	284996	broad.mit.edu	37	2	101898405	101898405	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:101898405G>A	ENST00000295317.3	-	6	1182	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149			12					GCTGATGGTGGACTGCTGTCA	0.507000													Colon(25;331 612 6521 7355 31028)											0							SO:0001583	missense			ENST00000295317.3	0	1	hg19	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	G	6.110	0.388625	0.11581	.	.	ENSG00000163162	ENST00000295317	T	0.09255	3.0	5.63	0.874	0.19124	.	1.265960	0.05900	N	0.629823	T	0.02888	0.0086	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40608	-0.9554	10	0.06099	T	0.92	.	4.9472	0.13994	0.5279:0.0:0.3314:0.1408	.	359	Q8NC42	RN149_HUMAN	S	359	ENSP00000295317:P359S	ENSP00000295317:P359S	P	-	1	0	RNF149	101264837	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.576000	0.23744	0.190000	0.20209	0.563000	0.77884	CCA		TCGA-HZ-8637-01A-11D-2396-08	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	0	0	0	6	657	0	195	1	9.380382e-01	8	538	0	195	2		0	0	0	0	0	2	1	9.642608e-01	7	651	0	195	2								-3.062763	1	1	0	0		1	0	0	0	2.007592	0	0.200000	1.850000	0.188641	0.090000	0.030000	0.180000	0.090000	0.103117	0.090000	0	0.050000	0.140000
CSRNP3	80034	broad.mit.edu	37	2	166514474	166514474	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:166514474C>T	ENST00000342316.4	+	3	624	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R118W|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R150W	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3			33					GAGGCTCCACCGGGAGATGTT	0.507000																								0							SO:0001583	missense			ENST00000342316.4	1	1	hg19	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553765	0.65425	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.44	3.43	0.39272	.	0.108850	0.64402	D	0.000015	T	0.32704	0.0838	L	0.59912	1.85	0.43160	D	0.994949	D	0.71674	0.998	P	0.59643	0.861	T	0.14172	-1.0482	10	0.56958	D	0.05	-9.7028	14.2181	0.65807	0.3795:0.6205:0.0:0.0	.	118	Q8WYN3	CSRN3_HUMAN	W	118;125;118;118;118;150	ENSP00000412081:R118W;ENSP00000318258:R118W;ENSP00000386278:R118W;ENSP00000344042:R118W;ENSP00000387195:R150W	ENSP00000318258:R118W	R	+	1	2	CSRNP3	166222720	1.000000	0.71417	0.999000	0.59377	0.583000	0.36354	2.123000	0.41996	1.263000	0.44181	0.563000	0.77884	CGG		TCGA-HZ-8637-01A-11D-2396-08	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	1	0	0	25	248	0	84	0	9.249012e-03	0	2	0	84	2		0	0	0	0	0	2	1	9.999999e-01	25	245	0	84	2								-2.879461	1	1	121408	2	31	1	0	0	0	2.007592	0	0.200000	1.850000	0.188641	0.900000	0.600000	1.000000	1.000000	0.881519	0.900000	1	0.740000	1.000000
FN1	2335	broad.mit.edu	37	2	216246983	216246983	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:216246983G>C	ENST00000359671.1	-	31	5108	c.4843C>G	c.(4843-4845)Cag>Gag	p.Q1615E	FN1_ENST00000357867.4_Missense_Mutation_p.Q1615E|FN1_ENST00000345488.5_Missense_Mutation_p.Q1615E|FN1_ENST00000336916.4_Missense_Mutation_p.Q1615E|FN1_ENST00000432072.2_Missense_Mutation_p.Q1706E|FN1_ENST00000446046.1_Missense_Mutation_p.Q1615E|FN1_ENST00000357009.2_Missense_Mutation_p.Q1615E|FN1_ENST00000346544.3_Missense_Mutation_p.Q1615E|FN1_ENST00000356005.4_Missense_Mutation_p.Q1615E|FN1_ENST00000323926.6_Missense_Mutation_p.Q1706E|FN1_ENST00000421182.1_Missense_Mutation_p.Q1615E|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000354785.4_Missense_Mutation_p.Q1706E|FN1_ENST00000443816.1_Missense_Mutation_p.Q1615E			P02751	FINC_HUMAN	fibronectin 1		FN1/ALK(2)	109		Renal(323;0.127)		Ocriplasmin(DB08888)	CTTGGATTCTGAGCATAGACA	0.448000																								0							SO:0001583	missense			ENST00000359671.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.49	3.403313	0.62288	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.91	5.91	0.95273	.	0.089806	0.48286	D	0.000200	T	0.65893	0.2735	L	0.34521	1.04	0.20638	N	0.999873	D;P;P;P;D;D;D;D;D;P;P;D	0.62365	0.991;0.904;0.946;0.478;0.975;0.989;0.991;0.971;0.981;0.946;0.946;0.973	D;D;D;P;P;D;D;P;D;D;D;D	0.79784	0.993;0.953;0.953;0.693;0.832;0.989;0.993;0.77;0.993;0.953;0.953;0.98	T	0.60974	-0.7156	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1406;1615;1706;1706;1615;1615;1615;1615;1616;1615;1615;1706	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.;.	E	1615;1706;1615;1615;1706;1616;1615;1615;1615;1615;1615;1615;1706;1615;422	ENSP00000394423:Q1615E;ENSP00000323534:Q1706E;ENSP00000338200:Q1615E;ENSP00000350534:Q1615E;ENSP00000346839:Q1706E;ENSP00000352696:Q1615E;ENSP00000265312:Q1615E;ENSP00000273049:Q1615E;ENSP00000349509:Q1615E;ENSP00000410422:Q1615E;ENSP00000415018:Q1615E;ENSP00000399538:Q1706E;ENSP00000348285:Q1615E;ENSP00000416139:Q422E	ENSP00000265313:Q1616E	Q	-	1	0	FN1	215955228	1.000000	0.71417	0.988000	0.46212	0.692000	0.40212	6.444000	0.73452	2.793000	0.96121	0.655000	0.94253	CAG		TCGA-HZ-8637-01A-11D-2396-08	FN1-204	KNOWN	basic	protein_coding	protein_coding		1	0	0	32	324	0	104	1	1	32	3395	0	104	2		0	0	0	0	0	2	1	1	33	323	0	104	2								-2.920854	1	1	0	0		1	0	4	4	2.189860	1	0.200000	1.850000	0.260628	0.990000	0.700000	1.000000	1.000000	0.945640	0.990000	1	0.840000	1.000000
COL4A4	1286	broad.mit.edu	37	2	227945177	227945177	+	Silent	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:227945177T>C	ENST00000396625.3	-	24	1992	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_ENST00000329662.7_Silent_p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4			98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)			CTGGATCCCCTTTTTCTCCAG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000396625.3	0	1	hg19	CCDS42828.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	0	0	0	9	937	0	217	0	5.133982e-03	0	10	0	217	2		0	0	0	0	0	2	1	9.940257e-01	10	930	0	216	2								-1.708373	0	1	0	0		1	0	4	4	2.189860	1	0.200000	1.850000	0.260628	0.120000	0.040000	1.000000	0.110000	0.321440	0.120000	0	0.070000	1.000000
ALPPL2	251	broad.mit.edu	37	2	233273223	233273223	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:233273223G>A	ENST00000295453.3	+	7	848	c.796G>A	c.(796-798)Gtg>Atg	p.V266M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2			13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Amifostine(DB01143)	TGCCCGGTACGTGTGGAACCG	0.677000																								0							SO:0001583	missense			ENST00000295453.3	1	1	hg19	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	17.79	3.475270	0.63737	.	.	ENSG00000163286	ENST00000295453	D	0.98313	-4.86	3.37	3.37	0.38596	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	H	0.97587	4.035	0.51233	D	0.99991	D	0.89917	1.0	D	0.83275	0.996	D	0.98561	1.0641	10	0.87932	D	0	.	15.0806	0.72110	0.0:0.0:1.0:0.0	.	266	P10696	PPBN_HUMAN	M	266	ENSP00000295453:V266M	ENSP00000295453:V266M	V	+	1	0	ALPPL2	232981467	1.000000	0.71417	0.667000	0.29798	0.103000	0.19146	4.761000	0.62243	1.572000	0.49736	0.411000	0.27672	GTG		TCGA-HZ-8637-01A-11D-2396-08	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	1	0	0	91	884	0	193	0	8.954418e-03	1	1	0	193	2		0	0	0	0	0	2	1	1	91	876	0	200	2								-19.999930	1	0	121288	2	30	1	0	4	4	2.222046	1	0.200000	1.850000	0.333333	0.990000	0.910000	1.000000	1.000000	0.993494	0.990000	1	0.990000	1.000000
LRRTM1	347730	broad.mit.edu	37	2	80530477	80530477	+	Silent	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:80530477G>T	ENST00000295057.3	-	2	1124	c.468C>A	c.(466-468)ctC>ctA	p.L156L	LRRTM1_ENST00000409148.1_Silent_p.L156L|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1			63					GCCCGTGGAAGAGGTCGGGCG	0.637000										HNSCC(69;0.2)														0							SO:0001819	synonymous_variant			ENST00000295057.3	0	1	hg19	CCDS1966.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	0	0	0	13	477	0	110	0	8.111271e-03	0	5	0	110	2		0	0	0	0	0	2	1	9.995052e-01	13	471	0	110	2								-3.731229	1	1	0	0		1	0	0	0	1.961225	0	0.200000	1.850000	0.168399	0.250000	0.140000	0.410000	0.250000	0.270987	0.250000	0	0.190000	0.340000
SNRNP200	23020	broad.mit.edu	37	2	96943638	96943638	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:96943638C>T	ENST00000323853.5	-	40	5738	c.5661G>A	c.(5659-5661)ccG>ccA	p.P1887P	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)			90					TCTTGACGTGCGGATCATTGA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000323853.5	1	1	hg19	CCDS2020.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	0	0	0	21	758	0	188	1	9.992998e-01	40	373	0	188	2		0	0	0	0	0	2	1	9.999973e-01	21	753	0	188	2								-2.881146	1	1	121412	8	42	1	0	0	0	2.007592	0	0.200000	1.850000	0.188641	0.260000	0.160000	0.390000	0.260000	0.276215	0.260000	0	0.210000	0.330000
MYH15	22989	broad.mit.edu	37	3	108129678	108129678	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:108129678T>C	ENST00000273353.3	-	32	4363	c.4307A>G	c.(4306-4308)gAg>gGg	p.E1436G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15			105					GTCCCCGAGCTCCAGCTGCAG	0.627000																								0							SO:0001583	missense			ENST00000273353.3	1	1	hg19	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.267172	0.59540	.	.	ENSG00000144821	ENST00000273353	D	0.85629	-2.01	5.2	5.2	0.72013	Myosin tail (1);	.	.	.	.	D	0.93141	0.7816	M	0.88512	2.96	0.54753	D	0.999989	D	0.69078	0.997	D	0.73708	0.981	D	0.94435	0.7653	9	0.87932	D	0	.	15.0504	0.71865	0.0:0.0:0.0:1.0	.	1436	Q9Y2K3	MYH15_HUMAN	G	1436	ENSP00000273353:E1436G	ENSP00000273353:E1436G	E	-	2	0	MYH15	109612368	1.000000	0.71417	0.076000	0.20297	0.040000	0.13550	5.798000	0.69095	1.962000	0.57031	0.459000	0.35465	GAG		TCGA-HZ-8637-01A-11D-2396-08	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	1	0	0	16	288	0	69	0	0	1	0	0	69	2		0	0	0	0	0	2	1	9.999342e-01	16	285	0	68	2								-18.290660	1	1	0	0		1	0	0	0	1.894115	1	0.200000	1.850000	0.139785	0.490000	0.290000	0.740000	0.480000	0.506228	0.490000	0	0.380000	0.620000
PLXNA1	5361	broad.mit.edu	37	3	126736303	126736303	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:126736303C>T	ENST00000393409.2	+	17	3312	c.3312C>T	c.(3310-3312)tgC>tgT	p.C1104C	PLXNA1_ENST00000251772.4_Silent_p.C1081C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1			67					CCATGGTATGCCGCGCCCCGT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000393409.2	0	1	hg19	CCDS33847.2																																																																																				TCGA-HZ-8637-01A-11D-2396-08	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	0	0	0	5	376	0	80	0	2.862245e-01	0	68	0	80	2		0	0	0	0	0	2	1	9.352974e-01	5	370	0	80	2								-3.112449	1	1	0	0		1	0	0	0	1.894115	1	0.200000	1.850000	0.139785	0.130000	0.040000	0.260000	0.120000	0.143344	0.130000	0	0.080000	0.200000
TRANK1	9881	broad.mit.edu	37	3	36872996	36872996	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:36872996T>A	ENST00000429976.2	-	21	8193	c.7946A>T	c.(7945-7947)gAg>gTg	p.E2649V	TRANK1_ENST00000428977.2_Missense_Mutation_p.E2099V|TRANK1_ENST00000301807.6_Missense_Mutation_p.E2099V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1			73					TTCATCCATCTCATCCTGGCC	0.532000																								0							SO:0001583	missense			ENST00000429976.2	1	1	hg19	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160380	0.38119	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35236	1.32;1.73;1.32	5.6	4.41	0.53225	.	0.096709	0.44902	D	0.000403	T	0.31482	0.0798	M	0.65975	2.015	0.30121	N	0.805724	P	0.40731	0.728	B	0.28139	0.086	T	0.43734	-0.9373	10	0.87932	D	0	.	11.1111	0.48232	0.0:0.0:0.1553:0.8447	.	2649	O15050	TRNK1_HUMAN	V	2099;2649;2099	ENSP00000416826:E2099V;ENSP00000416168:E2649V;ENSP00000301807:E2099V	ENSP00000301807:E2099V	E	-	2	0	TRANK1	36848000	0.949000	0.32298	0.652000	0.29579	0.537000	0.34900	2.449000	0.44935	1.035000	0.39972	0.459000	0.35465	GAG		TCGA-HZ-8637-01A-11D-2396-08	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	11	123	0	34	1	9.927052e-01	8	90	0	34	2		0	0	0	0	0	2	1	9.985014e-01	11	122	0	34	2								-5.970849	1	1	0	0		1	0	1	1	1.845907	1	0.200000	1.850000	0.111111	0.690000	0.380000	0.970000	0.700000	0.701561	0.690000	0	0.530000	0.870000
GRM2	2912	broad.mit.edu	37	3	51743379	51743379	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:51743379C>T	ENST00000395052.3	+	2	614	c.380C>T	c.(379-381)gCg>gTg	p.A127V	GRM2_ENST00000442933.2_Missense_Mutation_p.A127V|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2			33					GGCTCTTATGCGACCCATGGT	0.587000																								0							SO:0001583	missense			ENST00000395052.3	0	1	hg19	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981130	0.93044	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.84589	-1.87;-1.87	5.42	5.42	0.78866	Extracellular ligand-binding receptor (1);	0.062472	0.64402	D	0.000006	D	0.85500	0.5711	L	0.37630	1.12	0.80722	D	1	P	0.48230	0.907	P	0.49887	0.625	D	0.86902	0.2055	10	0.66056	D	0.02	.	19.2362	0.93861	0.0:1.0:0.0:0.0	.	127	Q14416	GRM2_HUMAN	V	127	ENSP00000378492:A127V;ENSP00000408906:A127V	ENSP00000296479:A127V	A	+	2	0	GRM2	51718419	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	6.026000	0.70873	2.555000	0.86185	0.655000	0.94253	GCG		TCGA-HZ-8637-01A-11D-2396-08	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1	0	0	0	5	206	0	31	0	0	0	1	0	31	2		0	0	0	0	0	2	1	9.359187e-01	6	202	0	29	2								-3.730703	1	1	121292	2	29	1	0	1	1	1.845907	1	0.200000	1.850000	0.111111	0.220000	0.080000	0.450000	0.210000	0.243949	0.220000	0	0.140000	0.330000
EPHA3	2042	broad.mit.edu	37	3	89445093	89445093	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:89445093G>C	ENST00000336596.2	+	6	1638	c.1413G>C	c.(1411-1413)gaG>gaC	p.E471D	EPHA3_ENST00000452448.2_Missense_Mutation_p.E471D|EPHA3_ENST00000494014.1_Missense_Mutation_p.E471D	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3			139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)			TGGACTACGAGGTCAAATACT	0.448000										TSP Lung(6;0.00050)														0							SO:0001583	missense			ENST00000336596.2	0	1	hg19	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668961	0.67814	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.59083	0.29;0.29;0.29	5.96	4.18	0.49190	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.64260	1.97	0.58432	D	0.999992	D;D	0.71674	0.997;0.998	D;D	0.79108	0.992;0.971	T	0.68758	-0.5324	9	.	.	.	.	10.9314	0.47220	0.1937:0.0:0.8063:0.0	.	471;471	P29320;P29320-2	EPHA3_HUMAN;.	D	471	ENSP00000337451:E471D;ENSP00000399926:E471D;ENSP00000419190:E471D	.	E	+	3	2	EPHA3	89527783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.525000	0.53502	0.863000	0.35553	0.655000	0.94253	GAG		TCGA-HZ-8637-01A-11D-2396-08	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	0	0	0	10	1038	0	250	0	6.004571e-02	0	37	0	250	2		0	0	0	0	0	2	1	9.967402e-01	10	1029	0	248	2								-2.619468	1	1	0	0		1	1	2	3	2.097673	0	0.200000	1.850000	0.269406	0.100000	0.040000	1.000000	0.110000	0.148035	0.100000	0	0.070000	0.160000
SNX2	6643	broad.mit.edu	37	5	122152644	122152644	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:122152644G>A	ENST00000379516.2	+	9	941	c.833G>A	c.(832-834)gGa>gAa	p.G278E	SNX2_ENST00000514949.1_Missense_Mutation_p.G161E|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2			19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)		GCTCTGAGTGGAGCAGGAATA	0.443000																								0							SO:0001583	missense			ENST00000379516.2	0	1	hg19	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778916	0.90195	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.27104	1.74;1.69	5.93	5.93	0.95920	.	0.161709	0.56097	D	0.000027	T	0.43478	0.1249	M	0.87180	2.865	0.80722	D	1	B	0.24920	0.114	B	0.28916	0.096	T	0.44205	-0.9343	10	0.87932	D	0	-20.0384	20.3334	0.98727	0.0:0.0:1.0:0.0	.	278	O60749	SNX2_HUMAN	E	278;161	ENSP00000368831:G278E;ENSP00000421663:G161E	ENSP00000368831:G278E	G	+	2	0	SNX2	122180543	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.688000	0.98670	2.818000	0.97014	0.591000	0.81541	GGA		TCGA-HZ-8637-01A-11D-2396-08	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	0	0	0	6	208	0	65	1	9.936445e-01	6	336	0	65	2		0	0	0	0	0	2	1	9.640672e-01	6	205	0	65	2								-2.989720	1	1	0	0		1	0	0	0	1.892832	1	0.200000	1.850000	0.139785	0.270000	0.110000	0.520000	0.260000	0.292762	0.270000	0	0.180000	0.390000
POU4F3	5459	broad.mit.edu	37	5	145719395	145719395	+	Silent	SNP	G	G	A	rs145372405	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:145719395G>A	ENST00000230732.4	+	2	494	c.405G>A	c.(403-405)ccG>ccA	p.P135P	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3			17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		TGGGCGCTCCGGAACACTCGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000230732.4	1	1	hg19	CCDS4281.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	1	0	0	33	323	1	65		0	0	0	1	65	2		0	0	0	0	0	2	1	9.892387e-01	33	320	1	65	18								-3.221884	1	1	121376	3	35	1	0	0	0	1.892832	1	0.200000	1.850000	0.139785	0.850000	0.600000	1.000000	1.000000	0.852920	0.850000	1	0.720000	1.000000
TCERG1	10915	broad.mit.edu	37	5	145826931	145826931	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:145826931G>T	ENST00000296702.5	+	1	57	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	TCERG1_ENST00000394421.2_Missense_Mutation_p.D7Y	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1			46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GCGTGGCGGGGACGGGGGCGA	0.617000											OREG0016896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000296702.5	0	1	hg19	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985832	0.53934	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.25414	1.8;1.8	5.03	5.03	0.67393	.	0.231983	0.38837	N	0.001560	T	0.19685	0.0473	N	0.14661	0.345	0.35204	D	0.774513	P;P;P	0.50943	0.94;0.902;0.842	B;P;B	0.47981	0.36;0.563;0.36	T	0.12116	-1.0560	10	0.72032	D	0.01	-11.5435	9.5825	0.39497	0.0931:0.0:0.9069:0.0	.	7;7;7	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	Y	7	ENSP00000296702:D7Y;ENSP00000377943:D7Y	ENSP00000296702:D7Y	D	+	1	0	TCERG1	145807124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.332000	0.52083	2.782000	0.95742	0.655000	0.94253	GAC		TCGA-HZ-8637-01A-11D-2396-08	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	0	0	0	7	121	0	31	1	4.270574e-01	6	18	0	31	2		0	0	0	0	0	2	1	9.667932e-01	6	102	0	27	2								-11.214320	1	1	121338	1	26	1	0	0	0	1.892832	1	0.200000	1.850000	0.139785	0.510000	0.230000	0.920000	0.480000	0.543181	0.510000	0	0.350000	0.720000
IRX4	50805	broad.mit.edu	37	5	1879903	1879903	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:1879903G>A	ENST00000505790.1	-	5	907	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.R151C|IRX4_ENST00000513692.1_Missense_Mutation_p.R151C	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4			10					GTGGTCTCGCGCGTGGCGTTC	0.637000																								0							SO:0001583	missense			ENST00000505790.1	1	1	hg19	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509935	0.85282	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	D;D;D;T	0.84370	-1.84;-1.84;-1.84;-0.39	4.55	3.64	0.41730	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92573	0.7641	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93692	0.7008	10	0.87932	D	0	-27.2035	12.7693	0.57410	0.0:0.0:0.8352:0.1647	.	151	P78413	IRX4_HUMAN	C	151;151;151;177	ENSP00000231357:R151C;ENSP00000423161:R151C;ENSP00000424235:R151C;ENSP00000421772:R177C	ENSP00000231357:R151C	R	-	1	0	IRX4	1932903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.297000	0.59061	2.067000	0.61834	0.462000	0.41574	CGC		TCGA-HZ-8637-01A-11D-2396-08	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	1	0	1	68	426	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	69	418	0	107	2								-3.318871	1	1	0	0		1	2	2	4	2.182973	1	0.200000	1.850000	0.257885	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	0.990000	1.000000
AHRR	57491	broad.mit.edu	37	5	424055	424055	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:424055G>A	ENST00000505113.1	+	7	727	c.683G>A	c.(682-684)cGt>cAt	p.R228H	AHRR_ENST00000316418.5_Missense_Mutation_p.R228H|AHRR_ENST00000512529.1_Missense_Mutation_p.R74H|AHRR_ENST00000506456.1_Missense_Mutation_p.R84H	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor			20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		TTCATCTGCCGTGTGCGCTGC	0.662000																								0							SO:0001583	missense			ENST00000505113.1	1	1	hg19	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841778	0.91197	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.72615	0.56;0.48;-0.57;-0.67	3.96	3.96	0.45880	.	0.121518	0.56097	D	0.000027	D	0.85444	0.5698	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.987;0.998	D	0.88474	0.3064	10	0.87932	D	0	.	13.4727	0.61290	0.0:0.0:1.0:0.0	.	84;228;228	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	H	228;228;74;84	ENSP00000424601:R228H;ENSP00000323816:R228H;ENSP00000424880:R74H;ENSP00000426932:R84H	ENSP00000323816:R228H	R	+	2	0	AHRR	477055	1.000000	0.71417	0.987000	0.45799	0.900000	0.52787	8.699000	0.91316	1.749000	0.51849	0.491000	0.48974	CGT		TCGA-HZ-8637-01A-11D-2396-08	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	0	0	0	17	497	1	102		0	0	0	1	102	2		0	0	0	0	0	2	1	5.552867e-01	17	492	1	101	17								-3.616047	1	1	0	0		1	2	2	4	2.182973	1	0.200000	1.850000	0.257885	0.390000	0.220000	1.000000	0.360000	0.518111	0.390000	0	0.290000	1.000000
DMGDH	29958	broad.mit.edu	37	5	78325780	78325780	+	Silent	SNP	A	A	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:78325780A>C	ENST00000255189.3	-	11	1789	c.1761T>G	c.(1759-1761)tcT>tcG	p.S587S	DMGDH_ENST00000540686.1_Silent_p.S207S|DMGDH_ENST00000380311.4_Silent_p.S386S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase			34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)			ACTCCCCAGGAGATTGGTGAG	0.353000																								0							SO:0001819	synonymous_variant			ENST00000255189.3	0	1	hg19	CCDS4044.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	0	0	0	6	251	0	58	0	2.551158e-02	0	9	0	58	2		0	0	0	0	0	2	1	9.650622e-01	6	250	0	58	2								-3.148837	1	1	0	0		1	0	1	1	1.761026	1	0.200000	1.850000	0.111111	0.210000	0.090000	0.420000	0.200000	0.235696	0.210000	0	0.140000	0.320000
PTPRZ1	5803	broad.mit.edu	37	7	121694078	121694078	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:121694078G>A	ENST00000393386.2	+	26	6778	c.6367G>A	c.(6367-6369)Gat>Aat	p.D2123N	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D1256N	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1			106					TATGATTCCTGATGGCCAAAA	0.428000																								0							SO:0001583	missense			ENST00000393386.2	1	1	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029859	0.54790	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11063	2.81;2.81	5.39	4.5	0.54988	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.077127	0.53938	D	0.000057	T	0.20659	0.0497	L	0.31371	0.925	0.53688	D	0.999979	B;P;P	0.46987	0.449;0.888;0.775	B;P;P	0.60236	0.202;0.871;0.697	T	0.01413	-1.1361	10	0.62326	D	0.03	.	16.0827	0.81014	0.0:0.1344:0.8656:0.0	.	1262;1256;2123	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	N	2123;1256	ENSP00000377047:D2123N;ENSP00000410000:D1256N	ENSP00000377047:D2123N	D	+	1	0	PTPRZ1	121481314	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	9.788000	0.99064	1.251000	0.43983	-0.274000	0.10170	GAT		TCGA-HZ-8637-01A-11D-2396-08	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	1	0	0	61	637	0	171	0	9.324421e-02	1	5	0	171	2		0	0	0	0	0	2	1	1	61	628	0	170	2								-15.676860	1	1	0	0		1	1	2	3	2.043458	0	0.200000	1.850000	0.204771	0.880000	0.680000	1.000000	1.000000	0.882954	0.880000	1	0.770000	1.000000
HECW1	23072	broad.mit.edu	37	7	43351558	43351558	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:43351558C>T	ENST00000395891.2	+	4	829	c.224C>T	c.(223-225)tCg>tTg	p.S75L	HECW1_ENST00000453890.1_Missense_Mutation_p.S75L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1			125					CTGGTCACCTCGGACAGCCGC	0.612000																								0							SO:0001583	missense			ENST00000395891.2	1	1	hg19	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	35	5.425853	0.96131	0.0	1.18E-4	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.35605	1.3;1.3	5.76	5.76	0.90799	.	0.129505	0.56097	D	0.000040	T	0.45135	0.1327	L	0.39147	1.195	0.80722	D	1	D;B;D	0.71674	0.998;0.017;0.978	P;B;B	0.51385	0.668;0.005;0.357	T	0.39143	-0.9628	10	0.87932	D	0	.	19.9521	0.97203	0.0:1.0:0.0:0.0	.	75;107;75	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	L	75;75;74	ENSP00000379228:S75L;ENSP00000407774:S75L	ENSP00000265522:S74L	S	+	2	0	HECW1	43318083	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	5.920000	0.70017	2.708000	0.92522	0.655000	0.94253	TCG		TCGA-HZ-8637-01A-11D-2396-08	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	0	0	1	49	377	1	84		0	0	0	1	84	2	0	0	0	1	0	0	2	1	9.999905e-01	49	374	1	84	17								-2.744763	1	1	121096	6	39	1	1	2	3	2.051170	0	0.200000	1.850000	0.206349	0.990000	0.870000	1.000000	1.000000	0.991008	0.990000	1	0.990000	1.000000
COL1A2	1278	broad.mit.edu	37	7	94050355	94050355	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:94050355G>A	ENST00000297268.6	+	38	2801	c.2330G>A	c.(2329-2331)cGt>cAt	p.R777H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2		COL1A2/PLAG1(3)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)	Collagenase(DB00048)	GCTGGAAGTCGTGGTGATGGA	0.423000										HNSCC(75;0.22)														0							SO:0001583	missense			ENST00000297268.6	1	1	hg19	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962324	0.92791	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93811	-3.29	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	H	0.94542	3.55	0.58432	D	0.999999	D	0.76494	0.999	P	0.58013	0.831	D	0.97940	1.0325	10	0.87932	D	0	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	777	P08123	CO1A2_HUMAN	H	777;778	ENSP00000297268:R777H	ENSP00000297268:R777H	R	+	2	0	COL1A2	93888291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.330000	0.72925	2.824000	0.97209	0.655000	0.94253	CGT		TCGA-HZ-8637-01A-11D-2396-08	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	0	0	0	27	354	1	124	0	1	2	5119	1	124	101		0	0	0	0	0	2	1	9.957153e-01	27	351	1	123	12								-7.825306	1	1	121412	2	35	1	1	2	3	2.044574	0	0.200000	1.850000	0.205561	0.720000	0.480000	1.000000	0.700000	0.742178	0.720000	0	0.590000	0.890000
RNF19A	25897	broad.mit.edu	37	8	101299991	101299991	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:101299991G>A	ENST00000519449.1	-	3	728	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase			30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		TTAGAATGCCGCAAAAGGCAC	0.373000																								0							SO:0001583	missense			ENST00000519449.1	0	1	hg19	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139684	0.77775	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.84146	-1.81;-1.81	5.57	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.056803	0.64402	D	0.000001	D	0.88123	0.6352	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	P	0.53490	0.727	D	0.87527	0.2450	10	0.66056	D	0.02	.	10.4328	0.44417	0.07:0.0:0.7955:0.1345	.	138	Q9NV58	RN19A_HUMAN	W	138	ENSP00000428968:R138W;ENSP00000342667:R138W	ENSP00000342667:R138W	R	-	1	2	RNF19A	101369167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.654000	0.67974	0.707000	0.31934	-0.142000	0.14014	CGG		TCGA-HZ-8637-01A-11D-2396-08	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	0	0	0	6	873	1	210	0	1.985626e-02	0	114	1	210	4		0	0	0	0	0	2	0	3.743014e-02	6	870	1	209	15								-1.799617	0	1	121412	5	39	1	2	2	4	2.186960	1	0.200000	1.850000	0.259259	0.090000	0.020000	1.000000	0.080000	0.298077	0.090000	0	0.050000	1.000000
KCNU1	157855	broad.mit.edu	37	8	36788639	36788639	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:36788639C>T	ENST00000399881.3	+	25	2944	c.2907C>T	c.(2905-2907)caC>caT	p.H969H	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	p.H969H(2)		57					TGTCCTTACACGAAACCATTT	0.418000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000399881.3	1	1	hg19	CCDS55220.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	1	0	0	54	598	0	183		0	0	0	0	183	2		0	0	0	0	0	2	1	1	55	591	0	182	2								-13.638120	1	1	120820	1	38	1	1	2	3	2.057392	0	0.200000	1.850000	0.207921	0.840000	0.640000	1.000000	1.000000	0.852768	0.840000	0	0.730000	1.000000
ST18	9705	broad.mit.edu	37	8	53062293	53062293	+	Splice_Site	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:53062293T>C	ENST00000276480.7	-	16	2734	c.2051A>G	c.(2050-2052)gAg>gGg	p.E684G	RP11-26M5.3_ENST00000520496.1_RNA	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger			85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)			AAACAATACCTCTTTCTCCTC	0.418000																								0							SO:0001630	splice_region_variant			ENST00000276480.7	1	0	hg19	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256218	0.80246	.	.	ENSG00000147488	ENST00000276480	T	0.53857	0.6	5.53	5.53	0.82687	Myelin transcription factor 1 (1);	0.146632	0.64402	D	0.000011	T	0.72819	0.3508	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.75082	-0.3443	10	0.49607	T	0.09	-25.523	15.6592	0.77169	0.0:0.0:0.0:1.0	.	684	O60284	ST18_HUMAN	G	684	ENSP00000276480:E684G	ENSP00000276480:E684G	E	-	2	0	ST18	53224846	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	5.945000	0.70226	2.110000	0.64415	0.377000	0.23210	GAG		TCGA-HZ-8637-01A-11D-2396-08	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1	1	0	1	32	221	0	68	0	4.688265e-01	0	12	0	68	2		0	0	0	0	0	2	1	1	32	220	0	68	2								-14.571590	1	1	0	0		1	2	2	4	2.186960	1	0.200000	1.850000	0.259259	0.990000	0.980000	1.000000	1.000000	0.998122	0.990000	1	0.990000	1.000000
ZNF462	58499	broad.mit.edu	37	9	109686870	109686870	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:109686870G>A	ENST00000277225.5	+	3	966	c.677G>A	c.(676-678)cGc>cAc	p.R226H	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.R226H			Q96JM2	ZN462_HUMAN	zinc finger protein 462			119					GTTGTGGAGCGCAGCATCTTA	0.582000																								0							SO:0001583	missense			ENST00000277225.5	0	1	hg19	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176741	0.57692	0.0	1.16E-4	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.08102	3.13;3.58	5.82	5.82	0.92795	.	0.117145	0.64402	D	0.000013	T	0.19805	0.0476	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.94	T	0.01249	-1.1406	9	.	.	.	.	20.0893	0.97812	0.0:0.0:1.0:0.0	.	226;226	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	226	ENSP00000277225:R226H;ENSP00000414570:R226H	.	R	+	2	0	ZNF462	108726691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.515000	0.67049	2.761000	0.94854	0.655000	0.94253	CGC		TCGA-HZ-8637-01A-11D-2396-08	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	0	0	0	6	365	0	84	0	7.781872e-03	0	7	0	84	2		0	0	0	0	0	2	1	9.640962e-01	7	360	0	83	2								-5.984889	1	1	121412	2	35	1	0	1	1	1.854684	1	0.200000	1.850000	0.111111	0.150000	0.060000	0.290000	0.140000	0.165262	0.150000	0	0.090000	0.220000
IFNA7	3444	broad.mit.edu	37	9	21201878	21201878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:21201878G>T	ENST00000239347.3	-	1	326	c.287C>A	c.(286-288)tCa>tAa	p.S96*		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7			12					AGCAGCAGATGAGTCCTCTGT	0.493000																								0							SO:0001587	stop_gained			ENST00000239347.3	0	1	hg19	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365583	0.41902	.	.	ENSG00000214042	ENST00000239347	.	.	.	3.56	0.28	0.15682	.	0.828141	0.10926	N	0.618941	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2755	0.31871	0.0:0.4864:0.3482:0.1654	.	.	.	.	X	96	.	ENSP00000239347:S96X	S	-	2	0	IFNA7	21191878	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	0.117000	0.15583	-0.191000	0.10448	0.586000	0.80456	TCA		TCGA-HZ-8637-01A-11D-2396-08	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	0	0	0	9	653	0	155		0	0	0	0	155	2		0	0	0	0	0	2	1	9.805121e-01	8	488	0	219	2								-2.922052	1	1	0	0		1	0	1	1	1.845158	1	0.200000	1.850000	0.111111	0.120000	0.050000	0.220000	0.120000	0.133899	0.120000	0	0.080000	0.170000
PRUNE2	158471	broad.mit.edu	37	9	79318999	79318999	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:79318999T>C	ENST00000376718.3	-	9	7653	c.7530A>G	c.(7528-7530)atA>atG	p.I2510M	PRUNE2_ENST00000428286.1_Missense_Mutation_p.I2151M	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					CCAATTCTGATATTTCCTTGC	0.363000																								0							SO:0001583	missense			ENST00000376718.3	0	1	hg19	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.506|8.506	0.865365|0.865365	0.17250|0.17250	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|T	0.46451|0.43294	0.88;0.87|0.95	5.76|5.76	-4.85|-4.85	0.03142|0.03142	.|.	0.937666|0.937666	0.08922|0.08922	N|N	0.874209|0.874209	T|T	0.24624|0.24624	0.0597|0.0597	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B|.	0.25486|.	0.127|.	B|.	0.19148|.	0.024|.	T|T	0.33445|0.33445	-0.9868|-0.9868	10|8	0.66056|0.17832	D|T	0.02|0.49	-0.3915|-0.3915	0.7931|0.7931	0.01061|0.01061	0.2162:0.3068:0.1812:0.2958|0.2162:0.3068:0.1812:0.2958	.|.	2510|.	Q8WUY3|.	PRUN2_HUMAN|.	M|V	2510;2151;2509|1832	ENSP00000365908:I2510M;ENSP00000397425:I2151M|ENSP00000389706:I1832V	ENSP00000365908:I2510M|ENSP00000389706:I1832V	I|I	-|-	3|1	3|0	PRUNE2|PRUNE2	78508819|78508819	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.769000|0.769000	0.43574|0.43574	-2.307000|-2.307000	0.01132|0.01132	-0.425000|-0.425000	0.07371|0.07371	0.533000|0.533000	0.62120|0.62120	ATA|ATC		TCGA-HZ-8637-01A-11D-2396-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	0	0	0	5	633	0	153	0	2.182250e-02	0	23	0	153	2		0	0	0	0	0	2	1	9.353993e-01	5	624	0	151	2								-3.206609	1	1	0	0		1	0	1	1	1.854684	1	0.200000	1.850000	0.111111	0.070000	0.020000	0.150000	0.070000	0.083311	0.070000	0	0.040000	0.110000
NTRK2	4915	broad.mit.edu	37	9	87338511	87338511	+	Missense_Mutation	SNP	G	G	A	rs117250170	by1000genomes	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:87338511G>A	ENST00000323115.4	+	6	960	c.607G>A	c.(607-609)Gca>Aca	p.A203T	NTRK2_ENST00000376208.1_Missense_Mutation_p.A203T|NTRK2_ENST00000395866.2_Missense_Mutation_p.A47T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A203T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A203T|NTRK2_ENST00000304053.6_Missense_Mutation_p.A203T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A203T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A203T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A203T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2			46				Amitriptyline(DB00321)	AAATCTGGCCGCACCTAACCT	0.398000										TSP Lung(25;0.17)														0							SO:0001583	missense			ENST00000323115.4	0	1	hg19	CCDS35050.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.40	1.340322	0.24339	2.27E-4	6.98E-4	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.64	4.52	0.55395	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177702	0.49916	D	0.000137	T	0.12050	0.0293	N	0.01438	-0.865	0.27631	N	0.948042	B;B;B;B;B;B;B;B	0.29936	0.029;0.013;0.013;0.016;0.001;0.005;0.262;0.013	B;B;B;B;B;B;B;B	0.17722	0.019;0.009;0.009;0.016;0.004;0.004;0.019;0.009	T	0.13656	-1.0501	10	0.15952	T	0.53	.	4.7532	0.13071	0.2675:0.0:0.7325:0.0	.	47;203;203;203;203;203;249;203	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	T	203;203;203;203;203;203;203;203;47	ENSP00000365387:A203T;ENSP00000365386:A203T;ENSP00000379221:A203T;ENSP00000365381:A203T;ENSP00000306167:A203T;ENSP00000277120:A203T;ENSP00000314586:A203T;ENSP00000352906:A203T;ENSP00000379207:A47T	ENSP00000277120:A203T	A	+	1	0	NTRK2	86528331	0.010000	0.17322	0.901000	0.35422	0.850000	0.48378	1.337000	0.33862	2.807000	0.96579	0.591000	0.81541	GCA		TCGA-HZ-8637-01A-11D-2396-08	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1	0	0	0	5	395	0	97	0	7.906663e-02	0	30	0	97	2		0	0	0	0	0	2	1	9.366725e-01	5	392	0	97	2								-2.579551	1	1	121412	4	48	1	0	1	1	1.854684	1	0.200000	1.850000	0.111111	0.110000	0.040000	0.240000	0.110000	0.131641	0.110000	0	0.070000	0.180000
DRP2	1821	broad.mit.edu	37	X	100505940	100505940	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:100505940T>C	ENST00000395209.3	+	16	2260	c.1733T>C	c.(1732-1734)tTc>tCc	p.F578S	DRP2_ENST00000541709.1_Missense_Mutation_p.F500S|DRP2_ENST00000538510.1_Missense_Mutation_p.F578S|DRP2_ENST00000402866.1_Missense_Mutation_p.F578S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2			31					GCATCCCAGTTCCTGGAGTGG	0.542000																								0							SO:0001583	missense			ENST00000395209.3	1	1	hg19	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885168	0.91814	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	6.06	6.06	0.98353	EF-hand domain, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93684	0.7001	10	0.87932	D	0	-16.046	15.4998	0.75687	0.0:0.0:0.0:1.0	.	578	Q13474	DRP2_HUMAN	S	578;578;500;578	ENSP00000385038:F578S;ENSP00000378635:F578S;ENSP00000444752:F500S;ENSP00000441051:F578S	ENSP00000378635:F578S	F	+	2	0	DRP2	100392596	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.040000	0.89188	2.044000	0.60594	0.486000	0.48141	TTC		TCGA-HZ-8637-01A-11D-2396-08	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	0	0	0	33	1204	0	237		0	0	0	0	237	2		0	0	0	0	0	2	1	1	33	1191	0	234	2								-19.999860	1	1	0	0		1	0	1	1			0.200000	1.850000	0.200000	0.260000	0.180000	0.360000	0.260000	0.273514	0.260000	0	0.220000	0.320000
IRS4	8471	broad.mit.edu	37	X	107979420	107979420	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:107979420C>G	ENST00000372129.2	-	1	231	c.155G>C	c.(154-156)gGa>gCa	p.G52A	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4			78					CCACATGGCTCCCGGACAAGA	0.672000																								0							SO:0001583	missense			ENST00000372129.2	1	1	hg19	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	c	14.15	2.450387	0.43531	.	.	ENSG00000133124	ENST00000372129	T	0.57436	0.4	3.0	2.13	0.27403	.	0.434509	0.17021	N	0.190111	T	0.31979	0.0814	N	0.14661	0.345	0.26220	N	0.979178	B	0.18461	0.028	B	0.12156	0.007	T	0.22243	-1.0222	10	0.56958	D	0.05	-3.0499	7.3287	0.26569	0.0:0.8609:0.0:0.1391	.	52	O14654	IRS4_HUMAN	A	52	ENSP00000361202:G52A	ENSP00000361202:G52A	G	-	2	0	IRS4	107866076	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.426000	0.44731	0.679000	0.31345	0.431000	0.28591	GGA		TCGA-HZ-8637-01A-11D-2396-08	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	1	0	0	54	565	0	89		0	0	0	0	89	2	0	0	0	1	0	0	2	1	1	52	560	0	88	2								-20.000000	1	1	0	0		1	0	1	1			0.200000	1.850000	0.200000	0.860000	0.660000	1.000000	1.000000	0.870528	0.860000	1	0.760000	0.990000
KCNE1L	23630	broad.mit.edu	37	X	108868206	108868206	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:108868206C>T	ENST00000372101.2	-	1	187	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like			6					GAGCAACAGGCGGCTCAGAAG	0.682000																								0							SO:0001583	missense			ENST00000372101.2	1	1	hg19	CCDS14547.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906858	0.52333	.	.	ENSG00000176076	ENST00000372101	T	0.71817	-0.6	4.74	1.66	0.24008	.	0.242758	0.27437	N	0.019376	T	0.41880	0.1178	N	0.08118	0	0.28357	N	0.920618	B	0.13145	0.007	B	0.10450	0.005	T	0.21861	-1.0233	10	0.48119	T	0.1	-25.7468	0.7581	0.01002	0.1549:0.2966:0.2664:0.2821	.	15	Q9UJ90	KCE1L_HUMAN	H	15	ENSP00000361173:R15H	ENSP00000361173:R15H	R	-	2	0	KCNE1L	108754862	0.985000	0.35326	0.988000	0.46212	0.851000	0.48451	0.065000	0.14466	0.476000	0.27440	0.523000	0.50628	CGC		TCGA-HZ-8637-01A-11D-2396-08	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057892.1	1	0	0	7	177	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	8.943698e-01	4	100	0	23	2								-10.141520	1	1	120734	1	24	1	0	1	1			0.200000	1.850000	0.200000	0.390000	0.170000	0.720000	0.380000	0.420727	0.390000	0	0.270000	0.560000
CAPN6	827	broad.mit.edu	37	X	110494868	110494868	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:110494868G>T	ENST00000324068.1	-	6	969	c.802C>A	c.(802-804)Ctt>Att	p.L268I	CAPN6_ENST00000541758.1_Missense_Mutation_p.L13I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6			47					ACTTCCACAAGTCTCTCTCCA	0.488000																								0							SO:0001583	missense			ENST00000324068.1	0	1	hg19	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074557	0.76415	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.90444	-2.67;-2.28	6.17	5.31	0.75309	Peptidase C2, calpain, catalytic domain (3);	0.072434	0.56097	D	0.000033	D	0.92496	0.7617	L	0.58428	1.81	0.47276	D	0.999375	D	0.60575	0.988	P	0.61722	0.893	D	0.91917	0.5544	10	0.52906	T	0.07	.	9.6606	0.39952	0.0718:0.0:0.7883:0.1398	.	268	Q9Y6Q1	CAN6_HUMAN	I	268;13	ENSP00000317214:L268I;ENSP00000441736:L13I	ENSP00000317214:L268I	L	-	1	0	CAPN6	110381524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.051000	0.49885	1.355000	0.45865	0.600000	0.82982	CTT		TCGA-HZ-8637-01A-11D-2396-08	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1	0	0	0	29	3217	0	701	0	8.630114e-04	1	4	0	701	2		0	0	0	0	0	2	1	1	30	3196	0	698	2								-3.318793	1	1	0	0		1	0	1	1			0.200000	1.850000	0.200000	0.080000	0.050000	0.130000	0.090000	0.092239	0.080000	0	0.060000	0.110000
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	p.Q394Q(1)		43					gctgctgctgctgttgttggt	0.582000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000524145.1	0	1	hg19	CCDS48154.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	0	0	0	7	437	0	68	0	1.171922e-02	0	9	0	68	2	0	3.611521e-04	0	2	0	0	2	1	9.840353e-01	4	463	0	72	2								-3.110143	1	1	0	0		1	0	1	1			0.200000	1.850000	0.200000	0.160000	0.070000	0.310000	0.160000	0.177743	0.160000	0	0.110000	0.240000
NDUFA1	4694	broad.mit.edu	37	X	119005896	119005896	+	Missense_Mutation	SNP	G	G	A	rs104894884		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:119005896G>A	ENST00000371437.4	+	1	447	c.22G>A	c.(22-24)Gga>Aga	p.G8R	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa			5					GATTCTCCCCGGACTCTCCGT	0.582000																								0		GRCh37	CM070206	NDUFA1	M	rs104894884	SO:0001583	missense			ENST00000371437.4	1	1	hg19	CCDS14590.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436087	0.43224	.	.	ENSG00000125356	ENST00000371437	T	0.78481	-1.18	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	.	.	.	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.86588	0.1858	9	0.42905	T	0.14	-17.2435	13.6857	0.62515	0.0:0.0:1.0:0.0	.	8	O15239	NDUA1_HUMAN	R	8	ENSP00000360492:G8R	ENSP00000360492:G8R	G	+	1	0	NDUFA1	118889924	1.000000	0.71417	0.749000	0.31150	0.584000	0.36387	3.502000	0.53332	2.300000	0.77407	0.600000	0.82982	GGA		TCGA-HZ-8637-01A-11D-2396-08	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058080.1	0	0	0	34	1464	0	327	0	1	1	2432	0	327	2		0	0	0	0	0	2	1	9.944770e-01	34	1455	1	327	17								-2.578158	1	1	0	0		1	0	1	1			0.200000	1.850000	0.200000	0.220000	0.150000	0.310000	0.220000	0.232695	0.220000	0	0.180000	0.270000
TFDP3	51270	broad.mit.edu	37	X	132351106	132351106	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:132351106G>A	ENST00000310125.4	-	1	1270	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3			19	Acute lymphoblastic leukemia(192;0.000127)				GGTCGTCATCGTTGTTGTCCT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000310125.4	1	1	hg19	CCDS14636.2																																																																																				TCGA-HZ-8637-01A-11D-2396-08	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	1	0	1	186	773	0	209		0	0	0	0	209	2		0	0	0	0	0	2	1	1	182	765	0	207	2								-20.000000	1	1	121400	10	42	1	0	1	1			0.200000	1.850000	0.200000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PDZD4	57595	broad.mit.edu	37	X	153069953	153069953	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:153069953C>T	ENST00000164640.4	-	8	1356	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	PDZD4_ENST00000393758.2_Missense_Mutation_p.V314I|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.V280I	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4			23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				TTGCGGTTGACGTCCAGGGCG	0.632000																								0							SO:0001583	missense			ENST00000164640.4	1	1	hg19	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020509	0.35606	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.04706	3.57;3.57;3.77	5.02	5.02	0.67125	.	0.000000	0.34338	U	0.004046	T	0.09291	0.0229	L	0.46157	1.445	0.43857	D	0.996456	D;P;D;D;D	0.60575	0.98;0.956;0.988;0.988;0.98	P;P;B;P;P	0.48488	0.579;0.475;0.38;0.539;0.579	T	0.15636	-1.0430	10	0.39692	T	0.17	-44.1464	16.1719	0.81822	0.0:1.0:0.0:0.0	.	280;395;389;314;293	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	I	389;314;293;280	ENSP00000164640:V389I;ENSP00000377355:V314I;ENSP00000442033:V280I	ENSP00000164640:V389I	V	-	1	0	PDZD4	152723147	0.830000	0.29337	0.989000	0.46669	0.807000	0.45602	2.646000	0.46630	2.069000	0.61940	0.436000	0.28706	GTC		TCGA-HZ-8637-01A-11D-2396-08	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	1	0	0	18	349	0	75	0	2.185905e-01	0	17	0	75	2		0	0	0	0	0	2	1	9.999812e-01	18	344	0	74	2								-19.227920	1	1	0	0		1	0	1	1			0.200000	1.850000	0.200000	0.490000	0.300000	0.730000	0.480000	0.509289	0.490000	0	0.390000	0.620000
DMD	1756	broad.mit.edu	37	X	32563424	32563424	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:32563424G>A	ENST00000357033.4	-	17	2226	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	DMD_ENST00000288447.4_Missense_Mutation_p.P666S|DMD_ENST00000378677.2_Missense_Mutation_p.P670S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin			77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)			GTTAGTGATGGCTGAGTGGTG	0.463000																								0							SO:0001583	missense			ENST00000357033.4	1	1	hg19	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	9.924	1.212886	0.22289	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.71461	0.2;0.2;-0.57	5.64	4.69	0.59074	.	0.253065	0.20010	U	0.101151	T	0.56790	0.2009	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.20887	0.049;0.003;0.007;0.002	B;B;B;B	0.19666	0.026;0.015;0.003;0.007	T	0.51284	-0.8725	10	0.18710	T	0.47	.	12.1345	0.53964	0.0:0.0:0.6831:0.3169	.	666;666;674;670	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	S	666;670;674;674;551;666	ENSP00000367948:P670S;ENSP00000354923:P674S;ENSP00000288447:P666S	ENSP00000288447:P666S	P	-	1	0	DMD	32473345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.541000	0.45735	2.356000	0.79943	0.506000	0.49869	CCA		TCGA-HZ-8637-01A-11D-2396-08	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	0	0	12	375	0	92	0	3.506926e-03	0	3	0	92	2		0	0	0	0	0	2	1	9.991204e-01	12	373	0	92	2								-3.639479	1	1	0	0		1	0	1	1			0.200000	1.850000	0.200000	0.310000	0.170000	0.510000	0.300000	0.330732	0.310000	0	0.230000	0.420000
TBX22	50945	broad.mit.edu	37	X	79279655	79279655	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:79279655A>G	ENST00000373294.5	+	3	478	c.450A>G	c.(448-450)aaA>aaG	p.K150K	TBX22_ENST00000373296.3_Silent_p.K150K|TBX22_ENST00000442340.1_Silent_p.K30K|TBX22_ENST00000373291.1_Silent_p.K30K	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22			65					TGGATTCCAAACGCTATAGGT	0.527000																								0							SO:0001819	synonymous_variant			ENST00000373294.5	1	1	hg19	CCDS14445.1																																																																																				TCGA-HZ-8637-01A-11D-2396-08	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	1	0	1	101	439	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	100	436	0	125	2								-20.000000	1	1	0	0		1	0	1	1			0.200000	1.850000	0.200000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SYTL4	94121	broad.mit.edu	37	X	99956515	99956515	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:99956515G>A	ENST00000372989.1	-	5	596	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	SYTL4_ENST00000454200.2_Missense_Mutation_p.R89W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R89W|SYTL4_ENST00000372981.1_Missense_Mutation_p.R89W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R89W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R89W	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4			27				"""Insulin(DB00071)|Insulin Regular(DB00030)"	CGGCAGTCCCGACACACCAGG	0.572000																								0							SO:0001583	missense			ENST00000372989.1	1	1	hg19	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920656	0.52653	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.25	4.39	0.52855	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.262657	0.37530	N	0.002046	D	0.82356	0.5019	M	0.63843	1.955	0.29637	N	0.845039	D;D	0.76494	0.999;0.986	P;P	0.62382	0.901;0.487	T	0.77707	-0.2487	9	.	.	.	-4.0888	8.1107	0.30914	0.0833:0.0:0.7602:0.1565	.	89;89	Q96C24-2;Q96C24	.;SYTL4_HUMAN	W	89	ENSP00000362080:R89W;ENSP00000390252:R89W;ENSP00000403556:R89W;ENSP00000276141:R89W;ENSP00000263033:R89W;ENSP00000362072:R89W	.	R	-	1	2	SYTL4	99843171	0.987000	0.35691	0.961000	0.40146	0.629000	0.37895	3.328000	0.52052	1.119000	0.41883	0.600000	0.82982	CGG		TCGA-HZ-8637-01A-11D-2396-08	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	1	0	1	153	823	0	208	1	5.348295e-01	6	5	0	208	2		0	0	0	0	0	2	1	1	150	808	0	206	2								-2.966736	1	1	121410	1	47	1	0	1	1			0.200000	1.850000	0.200000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
