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
BTAF1	9044	broad.mit.edu	37	10	93786913	93786913	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:93786913G>T	ENST00000265990.6	+	37	5570	c.5262G>T	c.(5260-5262)ttG>ttT	p.L1754F	BTAF1_ENST00000544642.1_Missense_Mutation_p.L582F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa			59		Colorectal(252;0.0846)			TATACCGATTGATAACCAGAG	0.378000																								0							SO:0001583	missense			ENST00000265990.6	1	1	hg19	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857996	0.71834	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.79033	-1.23;-1.23	5.52	2.63	0.31362	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.81754	0.4889	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80139	-0.1507	10	0.62326	D	0.03	-8.1932	7.3657	0.26772	0.2012:0.1222:0.6766:0.0	.	1754	O14981	BTAF1_HUMAN	F	1754;582;604	ENSP00000265990:L1754F;ENSP00000439924:L582F	ENSP00000265990:L1754F	L	+	3	2	BTAF1	93776893	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	2.707000	0.47143	0.814000	0.34374	0.561000	0.74099	TTG		TCGA-XN-A8T3-01A-11D-A36O-08	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	1	0	1	68	373	0	91	1	9.894300e-01	12	29	0	91	2		0	0	0	0	0	2	1	1.000000	67	368	0	90	2		0	0	0	0	91	2	-20.000000	1	0	0	0		1	1	2	3	1.931020	0	0.190000	3.530000	0.260274	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MYOF	26509	broad.mit.edu	37	10	95121227	95121227	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:95121227G>T	ENST00000359263.4	-	28	2955	c.2956C>A	c.(2956-2958)Cga>Aga	p.R986R	MYOF_ENST00000371501.4_Silent_p.R986R|MYOF_ENST00000371502.4_Silent_p.R986R|MYOF_ENST00000358334.5_Silent_p.R973R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	p.R986G(1)		67					TCCACCGCTCGATTTATGTCA	0.483000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000359263.4	1	0	hg19	CCDS41551.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	1	0	0	17	375	0	81	0	9.798764e-01	0	143	0	81	2		0	0	0	0	0	2	1	0.999961	17	367	0	78	2		0	0	0	0	81	2	-4.024528	1	1	0	0		1	1	2	3	1.931020	0	0.190000	3.530000	0.260274	0.500000	0.300000	0.760000	0.490000	0.522749	0.500000	0	0.390000	0.640000
TRIM29	23650	broad.mit.edu	37	11	119993732	119993732	+	Silent	SNP	C	C	A	rs137882673		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:119993732C>A	ENST00000341846.5	-	5	1786	c.1365G>T	c.(1363-1365)acG>acT	p.T455T	TRIM29_ENST00000528870.1_5'UTR|TRIM29_ENST00000524816.3_Silent_p.T21T|TRIM29_ENST00000541857.1_Silent_p.T188T|TRIM29_ENST00000529044.1_Silent_p.T194T|TRIM29_ENST00000525887.1_5'Flank	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29			30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			CGAAGCTGTTCGTGTAGTTGT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000341846.5	1	0	hg19	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	4.375	0.069135	0.08436	.	.	ENSG00000137699	ENST00000525327	.	.	.	4.12	-8.25	0.01025	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2926	0.21069	0.0942:0.2723:0.4906:0.1429	.	.	.	.	X	48	.	.	E	-	1	0	TRIM29	119498942	0.000000	0.05858	0.001000	0.08648	0.690000	0.40134	-3.482000	0.00456	-4.073000	0.00076	-1.707000	0.00718	GAA		TCGA-XN-A8T3-01A-11D-A36O-08	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	1	0	0	21	478	1	109	0	2.357929e-01	0	21	1	109	2		0	0	0	0	0	2	1	0.999997	20	466	0	108	2		0	0	0	1	109	2	-2.777613	1	1	0	0		1	1	2	3	1.915771	0	0.190000	3.530000	0.260274	0.490000	0.310000	0.710000	0.480000	0.503266	0.490000	0	0.390000	0.600000
DCPS	28960	broad.mit.edu	37	11	126208220	126208220	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:126208220C>A	ENST00000263579.4	+	4	891	c.562C>A	c.(562-564)Cgg>Agg	p.R188R	DCPS_ENST00000530860.1_Intron	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger			17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)			TGAAGCGGACCGGATTGTTTT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000263579.4	1	0	hg19	CCDS8473.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	1	0	0	13	298	0	53	0	7.123048e-01	0	58	0	53	2		0	0	0	0	0	2	1	0.999522	13	294	0	52	2		0	0	0	0	53	2	-2.619992	1	1	0	0		1	1	2	3	1.915771	0	0.190000	3.530000	0.260274	0.490000	0.270000	0.780000	0.480000	0.510782	0.490000	0	0.370000	0.640000
PIK3C2A	5286	broad.mit.edu	37	11	17190264	17190264	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:17190264C>A	ENST00000265970.7	-	1	1024	c.1025G>T	c.(1024-1026)cGa>cTa	p.R342L	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha			58					CTGAGTTGTTCGAATATTTAA	0.373000																								0							SO:0001583	missense			ENST00000265970.7	1	0	hg19	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985990	0.35036	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.64803	-0.12	5.39	2.39	0.29439	.	0.787528	0.11900	N	0.518665	T	0.47746	0.1462	L	0.32530	0.975	0.80722	D	1	P;B	0.40302	0.712;0.36	B;B	0.34536	0.185;0.09	T	0.38329	-0.9666	10	0.46703	T	0.11	-0.7378	10.8495	0.46761	0.0:0.6901:0.2424:0.0675	.	342;342	F5H5W9;O00443	.;P3C2A_HUMAN	L	342	ENSP00000265970:R342L	ENSP00000265970:R342L	R	-	2	0	PIK3C2A	17146840	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.430000	0.52807	0.633000	0.30452	-0.300000	0.09419	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	1	0	0	24	583	0	126	0	6.171081e-02	0	10	0	126	2		0	0	0	0	0	2	1	1.000000	25	574	0	126	2		0	0	0	0	126	2	-3.138803	1	1	0	0		1	1	2	3	1.918179	0	0.190000	3.530000	0.260274	0.450000	0.300000	0.650000	0.450000	0.470953	0.450000	0	0.370000	0.560000
TNNT3	7140	broad.mit.edu	37	11	1956113	1956113	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:1956113C>A	ENST00000397301.1	+	15	686	c.678C>A	c.(676-678)ttC>ttA	p.F226L	TNNT3_ENST00000381548.3_Missense_Mutation_p.F217L|TNNT3_ENST00000360603.3_Missense_Mutation_p.F209L|TNNT3_ENST00000397304.2_Missense_Mutation_p.F196L|TNNT3_ENST00000381561.4_Missense_Mutation_p.F218L|TNNT3_ENST00000446240.1_Missense_Mutation_p.F196L|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381589.3_Missense_Mutation_p.F213L|TNNT3_ENST00000381549.3_Missense_Mutation_p.F207L|TNNT3_ENST00000381579.3_Missense_Mutation_p.F207L|TNNT3_ENST00000381558.1_Missense_Mutation_p.F207L|TNNT3_ENST00000278317.6_Missense_Mutation_p.F215L			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)			19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			TTGACAAGTTCGAGTTTGGGG	0.597000																								0							SO:0001583	missense			ENST00000397301.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	.	11.86	1.764327	0.31228	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	4.28	-6.19	0.02078	.	0.210963	0.49916	D	0.000140	D	0.92648	0.7664	M	0.84219	2.685	0.50467	D	0.999874	D;P;D;D;P	0.53619	0.961;0.929;0.961;0.961;0.934	P;P;P;P;P	0.57152	0.814;0.748;0.748;0.745;0.656	D	0.91890	0.5523	10	0.54805	T	0.06	-1.9598	15.2622	0.73634	0.0:0.249:0.0:0.751	.	215;207;213;207;226	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	L	215;227;218;217;209;207;213;207;201;196;218;202;207;226;196;196	ENSP00000278317:F215L;ENSP00000370973:F218L;ENSP00000370960:F217L;ENSP00000353815:F209L;ENSP00000370961:F207L;ENSP00000371001:F213L;ENSP00000370991:F207L;ENSP00000370969:F201L;ENSP00000415614:F196L;ENSP00000370975:F218L;ENSP00000344870:F202L;ENSP00000370970:F207L;ENSP00000380468:F226L;ENSP00000380471:F196L;ENSP00000413203:F196L	ENSP00000278317:F215L	F	+	3	2	TNNT3	1912689	0.001000	0.12720	0.667000	0.29798	0.223000	0.24884	-2.010000	0.01454	-1.388000	0.02092	-0.657000	0.03884	TTC		TCGA-XN-A8T3-01A-11D-A36O-08	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	1	0	0	25	720	0	196	0	1.256362e-03	0	2	0	196	2		0	0	0	0	0	2	1	1.000000	25	709	0	194	2		0	0	0	0	196	2	-2.950824	1	1	0	0		1	1	2	3	1.918179	0	0.190000	3.530000	0.260274	0.380000	0.250000	0.550000	0.390000	0.399653	0.380000	0	0.310000	0.470000
PAX6	5080	broad.mit.edu	37	11	31815068	31815068	+	Missense_Mutation	SNP	C	C	A	rs75572362		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:31815068C>A	ENST00000379132.3	-	10	1230	c.950G>T	c.(949-951)cGa>cTa	p.R317L	PAX6_ENST00000419022.1_Missense_Mutation_p.R331L|PAX6_ENST00000379107.2_Missense_Mutation_p.R331L|PAX6_ENST00000379115.4_Missense_Mutation_p.R331L|PAX6_ENST00000241001.8_Missense_Mutation_p.R317L|PAX6_ENST00000379129.2_Missense_Mutation_p.R331L|PAX6_ENST00000379123.5_Missense_Mutation_p.R317L|PAX6_ENST00000379111.2_Missense_Mutation_p.R317L			P26367	PAX6_HUMAN	paired box 6			35	Lung SC(675;0.225)				TGTGTCTGTTCGGCCCAACAT	0.532000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation															0							SO:0001583	missense	Familial Cancer Database	WAGR syndrome	ENST00000379132.3	1	0	hg19	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497777	0.85069	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000464174;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000530373	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-2.95;-3.3;-2.92;-3.3;-3.3;-3.3;-3.3;-2.72;-2.72;-3.3;-3.04;-2.91	5.77	4.85	0.62838	.	0.209907	0.47093	D	0.000241	D	0.95918	0.8671	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	1.0;0.985	D;P	0.87578	0.998;0.78	D	0.94084	0.7347	10	0.23891	T	0.37	.	15.2159	0.73267	0.0:0.9313:0.0:0.0687	.	331;317	F1T0F8;P26367	.;PAX6_HUMAN	L	331;317;331;146;331;116;317;331;317;317;181;181;317;272;116	ENSP00000404100:R331L;ENSP00000368427:R317L;ENSP00000368424:R331L;ENSP00000451885:R146L;ENSP00000368401:R331L;ENSP00000431961:R116L;ENSP00000241001:R317L;ENSP00000368410:R331L;ENSP00000368406:R317L;ENSP00000368418:R317L;ENSP00000451901:R181L;ENSP00000450775:R181L;ENSP00000368403:R317L;ENSP00000451372:R272L;ENSP00000452202:R116L	ENSP00000241001:R317L	R	-	2	0	PAX6	31771644	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.740000	0.68629	2.698000	0.92095	0.643000	0.83706	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	1	0	0	17	463	0	72	0	8.433578e-02	0	13	0	72	2		0	0	0	0	0	2	1	0.999962	17	456	0	70	2		0	0	0	0	72	2	-2.798772	1	1	0	0		1	1	2	3	1.918179	0	0.190000	3.530000	0.260274	0.410000	0.240000	0.620000	0.400000	0.427898	0.410000	0	0.320000	0.520000
ZFP91	80829	broad.mit.edu	37	11	58379764	58379764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:58379764C>T	ENST00000316059.6	+	7	1042	c.871C>T	c.(871-873)Cga>Tga	p.R291*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R291*|AP001350.1_ENST00000601906.1_5'Flank	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein			26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)			AGGAAGAAGACGAAAAGATGA	0.418000																								0							SO:0001587	stop_gained			ENST00000316059.6	0	1	hg19	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	C	38	6.963557	0.97967	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	.	.	.	5.69	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-6.2665	11.456	0.50183	0.3271:0.6729:0.0:0.0	.	.	.	.	X	291	.	ENSP00000374569:R291X	R	+	1	2	ZFP91	58136340	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	0.526000	0.22971	1.346000	0.45694	0.650000	0.86243	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	1	0	0	26	240	0	53	0	9.697699e-01	0	55	0	53	2		0	0	0	0	0	2	1	1.000000	26	237	0	51	2		0	0	0	0	53	2	-10.591580	1	1	0	0		1	1	2	3	1.915771	0	0.190000	3.530000	0.260274	0.990000	0.760000	1.000000	1.000000	0.973301	0.990000	1	0.930000	1.000000
OR52E8	390079	broad.mit.edu	37	11	5878138	5878138	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:5878138C>A	ENST00000537935.1	-	1	826	c.795G>T	c.(793-795)ttG>ttT	p.L265F	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8			20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)			AACGATGTGTCAAGAATGAAA	0.428000																								0							SO:0001583	missense			ENST00000537935.1	1	0	hg19	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	2.139	-0.397187	0.04899	.	.	ENSG00000183269	ENST00000537935	T	0.41758	0.99	4.12	-0.562	0.11781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37095	N	0.002256	T	0.19446	0.0467	N	0.20401	0.57	0.09310	N	0.999992	B	0.14805	0.011	B	0.27170	0.077	T	0.08848	-1.0702	10	0.16896	T	0.51	.	0.7785	0.01036	0.1481:0.3064:0.2193:0.3262	.	265	Q6IFG1	O52E8_HUMAN	F	265	ENSP00000444054:L265F	ENSP00000444054:L265F	L	-	3	2	OR52E8	5834714	0.000000	0.05858	0.988000	0.46212	0.083000	0.17756	-3.965000	0.00324	0.104000	0.17725	-0.235000	0.12190	TTG		TCGA-XN-A8T3-01A-11D-A36O-08	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	1	0	0	31	839	0	216		0	0	0	0	216	2		0	0	0	0	0	2	1	1.000000	31	832	0	216	2		0	0	0	0	216	2	-3.122021	1	1	0	0		1	1	2	3	1.918179	0	0.190000	3.530000	0.260274	0.410000	0.280000	0.560000	0.420000	0.421602	0.410000	0	0.340000	0.490000
SLC22A12	116085	broad.mit.edu	37	11	64359303	64359303	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:64359303G>A	ENST00000377574.1	+	1	1022	c.275G>A	c.(274-276)cGc>cAc	p.R92H	SLC22A12_ENST00000377572.1_Missense_Mutation_p.R92H|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R92H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R92H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12			27				Losartan(DB00678)|Probenecid(DB01032)	CGCCGCTTCCGCCAGCCACAG	0.677000																								0							SO:0001583	missense			ENST00000377574.1	1	0	hg19	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593237	0.46214	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	4.4	-0.511	0.11970	.	0.817974	0.10849	N	0.627391	T	0.40719	0.1128	M	0.88775	2.98	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.69479	0.964;0.964;0.898;0.964	T	0.15378	-1.0439	10	0.46703	T	0.11	.	6.9969	0.24786	0.0:0.2682:0.4327:0.2991	.	92;92;92;92	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	H	92	ENSP00000366790:R92H;ENSP00000366797:R92H;ENSP00000366795:R92H;ENSP00000336836:R92H	ENSP00000336836:R92H	R	+	2	0	SLC22A12	64115879	0.000000	0.05858	0.977000	0.42913	0.296000	0.27459	-0.084000	0.11268	0.237000	0.21200	0.484000	0.47621	CGC		TCGA-XN-A8T3-01A-11D-A36O-08	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	1	0	1	35	152	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1.000000	34	147	0	47	2		0	0	0	0	48	2	-1.133493	0	1	121256	9	31	1	1	2	3	1.915771	0	0.190000	3.530000	0.260274	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PPFIA1	8500	broad.mit.edu	37	11	70172768	70172768	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:70172768C>A	ENST00000253925.7	+	7	989	c.774C>A	c.(772-774)atC>atA	p.I258I	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.I258I|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1			65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		TCCAAGAAATCATAAGTAAGC	0.433000																								0							SO:0001819	synonymous_variant			ENST00000253925.7	0	1	hg19	CCDS31627.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	0	0	0	28	1324	0	297	0	1.503440e-01	0	32	0	297	2		0	0	0	0	0	2	1	1.000000	25	1309	0	296	2		0	0	0	0	297	2	-2.675413	1	1	0	0		1	1	2	3	1.915771	0	0.190000	3.530000	0.260274	0.230000	0.150000	0.340000	0.240000	0.246347	0.230000	0	0.190000	0.290000
NADSYN1	55191	broad.mit.edu	37	11	71189504	71189504	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:71189504C>A	ENST00000319023.2	+	10	1050	c.862C>A	c.(862-864)Cga>Aga	p.R288R	NADSYN1_ENST00000530055.1_5'Flank|NADSYN1_ENST00000539574.1_Silent_p.R28R	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1			25				L-Glutamine(DB00130)	GATTTCATCTCGAAACCTGGC	0.577000													Ovarian(79;763 1781 6490 50276)											0							SO:0001819	synonymous_variant			ENST00000319023.2	0	1	hg19	CCDS8201.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	0	0	0	5	61	0	13	0	9.232580e-01	0	60	0	13	2		0	0	0	0	0	2	1	0.934978	5	59	0	13	2		0	0	0	0	13	2	-9.800195	1	0	121288	12	40	1	1	2	3	1.915771	0	0.190000	3.530000	0.260274	0.920000	0.360000	1.000000	1.000000	0.836876	0.920000	1	0.590000	1.000000
NUP37	79023	broad.mit.edu	37	12	102505967	102505967	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:102505967C>A	ENST00000552283.1	-	3	339	c.200G>T	c.(199-201)cGa>cTa	p.R67L	NUP37_ENST00000251074.1_Missense_Mutation_p.R67L|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	p.R67L(1)		17					GTGAAATGTTCGAAGTGTTTT	0.368000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000552283.1	1	0	hg19	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347250	0.61183	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T;T	0.29397	1.57;1.57;2.86	5.43	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.277784	0.35772	N	0.002997	T	0.30885	0.0779	M	0.71581	2.175	0.43965	D	0.996648	B;B	0.32203	0.36;0.36	B;B	0.31390	0.129;0.06	T	0.05550	-1.0878	10	0.34782	T	0.22	-2.6224	9.7045	0.40207	0.0:0.786:0.0:0.214	.	67;67	B4DKV8;Q8NFH4	.;NUP37_HUMAN	L	67	ENSP00000448054:R67L;ENSP00000251074:R67L;ENSP00000448086:R67L	ENSP00000251074:R67L	R	-	2	0	NUP37	101030097	1.000000	0.71417	0.871000	0.34182	0.884000	0.51177	2.501000	0.45389	0.775000	0.33450	0.585000	0.79938	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	1	0	0	20	394	0	67	0	6.773461e-01	0	47	0	67	2		0	0	0	0	0	2	1	0.539168	21	386	1	67	20		0	0	0	0	67	2	-4.624837	1	0	0	0		1	1	3	4	2.014333	1	0.190000	3.530000	0.306032	0.620000	0.380000	1.000000	0.600000	0.653585	0.620000	0	0.480000	0.820000
APPL2	55198	broad.mit.edu	37	12	105597519	105597519	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:105597519C>A	ENST00000258530.3	-	9	891	c.666G>T	c.(664-666)atG>atT	p.M222I	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000551662.1_Missense_Mutation_p.M228I|APPL2_ENST00000539978.2_Missense_Mutation_p.M179I	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2			33					AAAAGCTGTCCATACGTTTGG	0.418000																								0							SO:0001583	missense			ENST00000258530.3	0	1	hg19	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301684	0.40694	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.03920	3.76;3.76;3.76	5.56	5.56	0.83823	.	0.037498	0.85682	D	0.000000	T	0.08714	0.0216	L	0.60455	1.87	0.58432	D	0.999999	B;B;B	0.31209	0.313;0.129;0.129	B;B;B	0.30251	0.113;0.053;0.048	T	0.04900	-1.0919	10	0.59425	D	0.04	-30.1684	17.7181	0.88343	0.0:1.0:0.0:0.0	.	228;179;222	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	I	222;179;228	ENSP00000258530:M222I;ENSP00000444472:M179I;ENSP00000446917:M228I	ENSP00000258530:M222I	M	-	3	0	APPL2	104121649	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.448000	0.66612	2.620000	0.88729	0.655000	0.94253	ATG		TCGA-XN-A8T3-01A-11D-A36O-08	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	0	0	0	20	1022	0	212	0	2.444905e-01	0	47	0	212	2		0	0	0	0	0	2	1	0.999994	20	1005	0	211	2		0	0	0	0	212	2	-1.974054	0	1	0	0		1	1	3	4	2.014333	1	0.190000	3.530000	0.306032	0.240000	0.140000	1.000000	0.230000	0.319412	0.240000	0	0.180000	0.330000
GIT2	9815	broad.mit.edu	37	12	110421488	110421488	+	Silent	SNP	C	C	A	rs140917075		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:110421488C>A	ENST00000355312.3	-	5	416	c.417G>T	c.(415-417)tcG>tcT	p.S139S	GIT2_ENST00000551209.1_Silent_p.S139S|TCHP_ENST00000550780.1_3'UTR|GIT2_ENST00000356259.4_Silent_p.S139S|GIT2_ENST00000338373.5_Silent_p.S139S|GIT2_ENST00000360185.4_Silent_p.S139S|GIT2_ENST00000343646.5_Silent_p.S139S|GIT2_ENST00000354574.4_Silent_p.S139S|GIT2_ENST00000553118.1_Silent_p.S139S|GIT2_ENST00000547815.1_Silent_p.S139S|GIT2_ENST00000320063.9_Silent_p.S139S|GIT2_ENST00000361006.5_Silent_p.S139S|GIT2_ENST00000457474.2_Silent_p.S139S	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2			27					TTCTCACGCTCGAATGGAGTT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000355312.3	1	0	hg19	CCDS9138.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	1	0	0	19	366	0	75	0	3.882651e-01	0	26	0	75	2		0	0	0	0	0	2	1	0.999990	19	359	0	74	2		0	0	0	0	75	2	-2.745973	1	1	0	0		1	1	3	4	2.014333	1	0.190000	3.530000	0.306032	0.630000	0.380000	1.000000	0.600000	0.666354	0.630000	0	0.490000	0.840000
TAS2R14	50840	broad.mit.edu	37	12	11091286	11091286	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:11091286C>A	ENST00000537503.1	-	1	576	c.521G>T	c.(520-522)cGa>cTa	p.R174L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14			8					ACTGGAAAATCGTGTAAAGTT	0.348000																								0							SO:0001583	missense			ENST00000537503.1	1	0	hg19	CCDS8637.1	.	.	.	.	.	.	.	.	.	.	C	7.482	0.648867	0.14516	.	.	ENSG00000212127	ENST00000537503	T	0.34667	1.35	3.28	-3.63	0.04529	.	2.668170	0.02729	U	0.114892	T	0.08447	0.0210	N	0.00313	-1.665	0.09310	N	1	B	0.14805	0.011	B	0.24701	0.055	T	0.10941	-1.0608	10	0.14656	T	0.56	.	0.1052	0.00052	0.2579:0.2416:0.1753:0.3253	.	174	Q9NYV8	T2R14_HUMAN	L	174	ENSP00000441949:R174L	ENSP00000375094:R174L	R	-	2	0	TAS2R14	10982553	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.567000	0.05916	-0.650000	0.05423	-0.908000	0.02827	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	1	0	0	15	404	0	67	0	1.530997e-03	0	2	0	67	2		0	0	0	0	0	2	1	0.999870	15	401	0	67	2		0	0	0	0	67	2	-3.052249	1	1	0	0		1	1	3	4	2.016404	1	0.190000	3.530000	0.312744	0.460000	0.260000	1.000000	0.430000	0.493964	0.460000	0	0.350000	0.610000
C12orf52	0	broad.mit.edu	37	12	113624632	113624632	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:113624632C>T	ENST00000548278.1	+	3	773	c.81C>T	c.(79-81)gtC>gtT	p.V27V	DDX54_ENST00000306014.5_5'Flank|DDX54_ENST00000314045.7_5'Flank|C12orf52_ENST00000552495.1_Silent_p.V51V|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Silent_p.V27V	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN				5					GCTACCGGGTCAAGGCCAGGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000548278.1	1	1	hg19	CCDS9166.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1	1	0	1	27	115	0	33	1	9.998859e-01	14	52	0	33	2		0	0	0	0	0	2	1	1.000000	26	111	0	33	2		0	0	0	0	33	2	-20.000000	1	1	0	0		1	1	3	4	2.014333	1	0.190000	3.530000	0.306032	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	0.990000	1.000000
PUS1	80324	broad.mit.edu	37	12	132426520	132426520	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:132426520G>A	ENST00000376649.3	+	5	1728	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.G382S|PUS1_ENST00000542167.2_Missense_Mutation_p.G357S|PUS1_ENST00000440818.2_Missense_Mutation_p.G382S	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1			11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				AGGTGGCACGGGCGCCAAGGT	0.612000													Esophageal Squamous(102;671 2009 17384 45666)											0							SO:0001583	missense			ENST00000376649.3	0	1	hg19	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378889	0.42207	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.54279	0.62;0.6;0.58;0.62;0.62	4.58	3.69	0.42338	.	0.639198	0.14819	N	0.296581	T	0.44265	0.1285	L	0.44542	1.39	0.09310	N	1	P;B	0.38078	0.617;0.005	B;B	0.37144	0.242;0.002	T	0.30416	-0.9979	10	0.49607	T	0.09	-10.2033	10.0242	0.42061	0.0981:0.0:0.9019:0.0	.	357;410	F5H1S9;Q9Y606	.;TRUA_HUMAN	S	382;410;382;382;357	ENSP00000392451:G382S;ENSP00000365837:G410S;ENSP00000324726:G382S;ENSP00000400032:G382S;ENSP00000438948:G357S	ENSP00000324726:G382S	G	+	1	0	PUS1	130992473	0.017000	0.18338	0.001000	0.08648	0.009000	0.06853	1.937000	0.40193	1.034000	0.39945	0.491000	0.48974	GGC		TCGA-XN-A8T3-01A-11D-A36O-08	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	1	0	0	10	91	0	22	1	9.877420e-01	4	69	0	22	2		0	0	0	0	0	2	1	0.995535	7	84	0	22	2		0	0	0	0	22	2	-16.927970	1	1	0	0		1	1	3	4	2.014333	1	0.190000	3.530000	0.306032	0.990000	0.660000	1.000000	1.000000	0.965953	0.990000	1	0.930000	1.000000
DCP1B	196513	broad.mit.edu	37	12	2062397	2062397	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:2062397T>C	ENST00000280665.6	-	7	788	c.709A>G	c.(709-711)Aaa>Gaa	p.K237E	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.K135E|DCP1B_ENST00000540622.1_Missense_Mutation_p.K111E	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B			24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)		CATGTAGCTTTGTCCTGCTTC	0.488000																								0							SO:0001583	missense			ENST00000280665.6	1	1	hg19	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579542	0.46006	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19669	2.19;2.18;2.13	4.93	3.79	0.43588	.	0.725582	0.14262	N	0.330731	T	0.29223	0.0727	M	0.67953	2.075	0.38015	D	0.934657	P;P	0.47762	0.884;0.9	P;B	0.46419	0.516;0.334	T	0.16041	-1.0416	10	0.62326	D	0.03	-2.4726	9.7109	0.40245	0.0:0.0816:0.0:0.9184	.	135;237	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	E	237;135;111	ENSP00000280665:K237E;ENSP00000380358:K135E;ENSP00000444374:K111E	ENSP00000280665:K237E	K	-	1	0	DCP1B	1932658	0.998000	0.40836	0.662000	0.29724	0.161000	0.22273	2.946000	0.49050	0.912000	0.36772	0.528000	0.53228	AAA		TCGA-XN-A8T3-01A-11D-A36O-08	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	1	0	1	27	204	0	49	1	8.218471e-01	5	21	0	49	2		0	0	0	0	0	2	1	1.000000	27	203	0	49	2		0	0	0	0	49	2	-20.000000	1	1	0	0		1	1	3	4	2.016404	1	0.190000	3.530000	0.312744	0.990000	0.990000	1.000000	1.000000	0.998291	0.990000	1	0.990000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-XN-A8T3-01A-11D-A36O-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	79	305	0	73	1	6.393962e-01	4	6	0	73	2	1	1	64	277	0	327	2	1	1.000000	77	299	0	73	2	1	1	2417	5606	0	73	2	-20.000000	1	1	121404	2	44	1	1	3	4	2.014333	1	0.190000	3.530000	0.306032	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
STK38L	23012	broad.mit.edu	37	12	27461299	27461299	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:27461299C>A	ENST00000389032.3	+	4	383	c.214C>A	c.(214-216)Cgc>Agc	p.R72S	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like			12	Colorectal(261;0.0847)				ACAACACGCTCGCAAAGAAAC	0.368000																								0							SO:0001583	missense			ENST00000389032.3	1	0	hg19	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405421	0.62288	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000540996;ENST00000543246;ENST00000544969	T;T;T;T;T	0.49720	0.99;0.77;0.99;0.99;0.99	4.54	4.54	0.55810	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.56199	1.76	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.46331	-0.9199	10	0.51188	T	0.08	.	17.29	0.87153	0.0:1.0:0.0:0.0	.	72	Q9Y2H1	ST38L_HUMAN	S	72	ENSP00000437856:R72S;ENSP00000373684:R72S;ENSP00000443838:R72S;ENSP00000442253:R72S;ENSP00000440279:R72S	ENSP00000373684:R72S	R	+	1	0	STK38L	27352566	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.515000	0.60489	2.257000	0.74773	0.460000	0.39030	CGC		TCGA-XN-A8T3-01A-11D-A36O-08	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	1	0	0	37	680	0	159	0	8.402188e-01	0	63	0	159	2		0	0	0	0	0	2	1	1.000000	37	664	0	156	2		0	0	0	0	159	2	-2.489390	0	1	0	0		1	1	3	4	2.014333	1	0.190000	3.530000	0.306032	0.650000	0.450000	1.000000	0.640000	0.681334	0.650000	0	0.540000	0.800000
FGD4	121512	broad.mit.edu	37	12	32778699	32778699	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:32778699C>A	ENST00000427716.2	+	14	2171	c.1747C>A	c.(1747-1749)Cga>Aga	p.R583R	FGD4_ENST00000546442.1_Silent_p.R490R|FGD4_ENST00000531134.1_Silent_p.R668R|FGD4_ENST00000525053.1_Silent_p.R695R|FGD4_ENST00000534526.2_Silent_p.R720R|FGD4_ENST00000266482.3_Silent_p.R335R	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4			27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)				GCATCATTGTCGAGCATGTGG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000427716.2	0	1	hg19	CCDS8727.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	0	0	0	19	731	0	123	0	1.171786e-01	0	22	0	123	2		0	0	0	0	0	2	1	0.999989	18	718	0	122	2		0	0	0	0	123	2	-2.547133	1	1	0	0		1	1	3	4	2.014333	1	0.190000	3.530000	0.306032	0.320000	0.190000	1.000000	0.300000	0.390956	0.320000	0	0.250000	0.440000
KRT74	121391	broad.mit.edu	37	12	52967109	52967109	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:52967109G>T	ENST00000305620.2	-	1	500	c.453C>A	c.(451-453)ttC>ttA	p.F151L	KRT74_ENST00000549343.1_Missense_Mutation_p.F151L	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	p.F151F(1)		28					TGAAGGAGGCGAACTTGTCGT	0.592000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000305620.2	1	0	hg19	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445032	0.63178	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.84589	-1.87;-1.87	4.4	-8.37	0.00976	Filament (1);	0.000000	0.36002	N	0.002856	D	0.90679	0.7076	M	0.84846	2.72	0.37092	D	0.899483	D	0.76494	0.999	D	0.74348	0.983	D	0.92064	0.5659	10	0.87932	D	0	.	18.0861	0.89457	0.3591:0.0:0.6409:0.0	.	151	Q7RTS7	K2C74_HUMAN	L	151	ENSP00000447447:F151L;ENSP00000307240:F151L	ENSP00000307240:F151L	F	-	3	2	KRT74	51253376	0.000000	0.05858	0.806000	0.32338	0.804000	0.45430	-2.453000	0.01005	-1.528000	0.01756	-0.459000	0.05422	TTC		TCGA-XN-A8T3-01A-11D-A36O-08	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	1	0	0	20	419	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	0.999995	20	415	0	104	2		0	0	0	0	104	2	-3.010565	1	1	0	0		1	1	3	4	2.014333	1	0.190000	3.530000	0.306032	0.580000	0.360000	1.000000	0.560000	0.622349	0.580000	0	0.460000	0.770000
PROZ	8858	broad.mit.edu	37	13	113826319	113826319	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:113826319C>T	ENST00000375547.2	+	8	1110	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	PROZ_ENST00000342783.4_Missense_Mutation_p.T390M	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein			16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)	Menadione(DB00170)	TGGTTTCTCACGGGGGTCCTG	0.562000																								0							SO:0001583	missense			ENST00000375547.2	1	1	hg19	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282979	0.23392	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.89050	-2.46;-2.46	3.96	2.78	0.32641	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.303944	0.34986	N	0.003522	D	0.91720	0.7382	M	0.68593	2.085	0.39311	D	0.965077	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91267	0.5041	10	0.87932	D	0	.	6.4669	0.21987	0.0:0.6801:0.1745:0.1454	.	390;368	P22891-2;P22891	.;PROZ_HUMAN	M	368;390	ENSP00000364697:T368M;ENSP00000344458:T390M	ENSP00000344458:T390M	T	+	2	0	PROZ	112874320	0.916000	0.31088	0.503000	0.27626	0.030000	0.12068	1.723000	0.38053	1.891000	0.54761	0.313000	0.20887	ACG		TCGA-XN-A8T3-01A-11D-A36O-08	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	1	0	1	54	222	0	63	0	3.971017e-02	0	2	0	63	2		0	0	0	0	0	2	1	1.000000	53	216	0	59	2		0	0	0	0	63	2	-20.000000	1	1	121378	5	37	1	2	2	4	2.073623	0	0.190000	3.530000	0.319328	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SGCG	6445	broad.mit.edu	37	13	23869565	23869565	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:23869565G>A	ENST00000218867.3	+	6	641	c.517G>A	c.(517-519)Gct>Act	p.A173T	SGCG_ENST00000537476.1_Missense_Mutation_p.A173T|SGCG_ENST00000545013.1_Missense_Mutation_p.A173T	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)			22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)			GCCTGAAGGGGCTCTTTTTGA	0.373000																								0							SO:0001583	missense			ENST00000218867.3	1	1	hg19	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182474	0.57800	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.95307	-3.67;-3.67;-3.67	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.75447	2.3	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.94976	0.8121	10	0.23891	T	0.37	-20.3547	13.2912	0.60272	0.0:0.0:1.0:0.0	.	173	Q13326	SGCG_HUMAN	T	173	ENSP00000218867:A173T;ENSP00000444100:A173T;ENSP00000442232:A173T	ENSP00000218867:A173T	A	+	1	0	SGCG	22767565	1.000000	0.71417	0.998000	0.56505	0.580000	0.36256	4.816000	0.62642	2.264000	0.75181	0.563000	0.77884	GCT		TCGA-XN-A8T3-01A-11D-A36O-08	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	1	0	1	173	809	0	164		0	0	0	0	164	2		0	0	0	0	0	2	1	1.000000	174	794	0	163	2		0	0	0	0	164	2	-20.000000	1	0	0	0		1	2	2	4	2.073623	0	0.190000	3.530000	0.319328	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ALOX5AP	241	broad.mit.edu	37	13	31330136	31330136	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:31330136C>A	ENST00000380490.3	+	4	395	c.297C>A	c.(295-297)gtC>gtA	p.V99V		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein			4		Lung SC(185;0.0257)|Breast(139;0.203)			AGTACTTTGTCGGTTACCTAG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000380490.3	1	0	hg19	CCDS9337.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	ALOX5AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044372.1	1	0	0	15	381	0	78	0	9.971820e-01	0	247	0	78	2		0	0	0	0	0	2	1	0.999857	14	374	0	77	2		0	0	0	0	78	2	-2.778627	1	1	0	0		1	2	2	4	2.073623	0	0.190000	3.530000	0.319328	0.480000	0.280000	0.750000	0.480000	0.500852	0.480000	0	0.370000	0.620000
DGKH	160851	broad.mit.edu	37	13	42773954	42773954	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:42773954G>T	ENST00000337343.4	+	20	2423	c.2402G>T	c.(2401-2403)cGa>cTa	p.R801L	DGKH_ENST00000540693.1_Missense_Mutation_p.R801L|DGKH_ENST00000261491.5_Missense_Mutation_p.R801L|DGKH_ENST00000379274.2_Missense_Mutation_p.R665L|DGKH_ENST00000536612.1_Missense_Mutation_p.R665L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.R556L	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	p.R801Q(1)		43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)			TTCAGGAGCCGAACTAAAAAC	0.348000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000337343.4	1	0	hg19	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871602	0.72065	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	5.79	5.79	0.91817	Diacylglycerol kinase, accessory domain (2);	0.073536	0.56097	D	0.000034	T	0.69033	0.3066	M	0.93678	3.445	0.80722	D	1	P;D;P;P	0.55172	0.844;0.97;0.5;0.951	P;P;B;P	0.59546	0.667;0.779;0.344;0.859	T	0.77189	-0.2679	10	0.87932	D	0	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	556;665;801;801	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	L	801;801;801;665;665;556	ENSP00000440823:R801L;ENSP00000337572:R801L;ENSP00000261491:R801L;ENSP00000368576:R665L;ENSP00000445114:R665L;ENSP00000441308:R556L	ENSP00000261491:R801L	R	+	2	0	DGKH	41671954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.956000	0.87863	2.727000	0.93392	0.591000	0.81541	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	1	0	0	15	336	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	0.999869	14	333	0	41	2		0	0	0	0	41	2	-3.063285	1	1	0	0		1	2	2	4	2.073623	0	0.190000	3.530000	0.319328	0.540000	0.310000	0.840000	0.520000	0.564112	0.540000	0	0.420000	0.700000
HTR2A	3356	broad.mit.edu	37	13	47409499	47409499	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:47409499G>A	ENST00000378688.4	-	3	1020	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HTR2A_ENST00000543956.1_Missense_Mutation_p.R213W|HTR2A_ENST00000542664.1_Missense_Mutation_p.R297W			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled			36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGATCGACCGCTGGAAGAGC	0.502000																								0							SO:0001583	missense			ENST00000378688.4	1	1	hg19	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180129	0.57800	2.27E-4	0.0	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.63417	0.27;-0.04;0.27	5.78	0.475	0.16774	GPCR, rhodopsin-like superfamily (1);	0.124540	0.53938	D	0.000048	T	0.81536	0.4843	M	0.91872	3.25	0.45477	D	0.998448	D;D	0.89917	0.999;1.0	D;D	0.74348	0.94;0.983	D	0.84763	0.0763	10	0.62326	D	0.03	.	15.9291	0.79646	0.0:0.0:0.4023:0.5977	.	213;297	F5GWE8;P28223	.;5HT2A_HUMAN	W	297;213;297	ENSP00000367959:R297W;ENSP00000441861:R213W;ENSP00000437737:R297W	ENSP00000367959:R297W	R	-	1	2	HTR2A	46307500	1.000000	0.71417	0.984000	0.44739	0.974000	0.67602	3.113000	0.50376	-0.155000	0.11098	-0.293000	0.09583	CGG		TCGA-XN-A8T3-01A-11D-A36O-08	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	1	0	1	35	183	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1.000000	35	175	0	35	2		0	0	0	0	35	2	-3.353918	1	1	121398	2	35	1	2	2	4	2.073623	0	0.190000	3.530000	0.319328	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	0.990000	1.000000
ATP7B	540	broad.mit.edu	37	13	52548807	52548807	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:52548807G>A	ENST00000242839.4	-	2	705	c.549C>T	c.(547-549)gcC>gcT	p.A183A	ATP7B_ENST00000542656.1_Silent_p.A151A|ATP7B_ENST00000448424.2_Silent_p.A183A|ATP7B_ENST00000418097.2_Silent_p.A183A|ATP7B_ENST00000400370.3_Silent_p.A183A|ATP7B_ENST00000400366.3_Silent_p.A183A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.A183A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide			55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGTGATGACGGCCTCTTGGT	0.512000									Wilson disease															0							SO:0001819	synonymous_variant	Familial Cancer Database		ENST00000242839.4	1	1	hg19	CCDS41892.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	1	0	1	44	222	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	1.000000	43	219	0	59	2		0	0	0	0	59	2	-20.000000	1	1	121044	1	33	1	2	2	4	2.073623	0	0.190000	3.530000	0.319328	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
TGDS	23483	broad.mit.edu	37	13	95246123	95246123	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:95246123G>T	ENST00000261296.5	-	2	245	c.125C>A	c.(124-126)cCa>cAa	p.P42Q	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase			8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)				CATATAGTTTGGATAATCTTC	0.274000																								0							SO:0001583	missense			ENST00000261296.5	0	1	hg19	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204314	0.79127	.	.	ENSG00000088451	ENST00000261296	D	0.93019	-3.15	5.67	5.67	0.87782	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.116101	0.64402	D	0.000014	D	0.96959	0.9007	M	0.88181	2.935	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.95736	0.8779	10	0.21014	T	0.42	.	17.5515	0.87878	0.0:0.0:1.0:0.0	.	42	O95455	TGDS_HUMAN	Q	42	ENSP00000261296:P42Q	ENSP00000261296:P42Q	P	-	2	0	TGDS	94044124	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.419000	0.59835	2.658000	0.90341	0.591000	0.81541	CCA		TCGA-XN-A8T3-01A-11D-A36O-08	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	0	0	0	22	1088	0	185	0	1.777944e-02	0	10	0	185	2		0	0	0	0	0	2	1	0.999999	22	1080	0	183	2		0	0	0	0	185	2	-2.151350	0	1	0	0		1	2	2	4	2.073623	0	0.190000	3.530000	0.319328	0.240000	0.150000	0.370000	0.240000	0.258596	0.240000	0	0.190000	0.310000
PPP1R13B	23368	broad.mit.edu	37	14	104209072	104209072	+	Silent	SNP	C	C	A	rs12891833		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:104209072C>A	ENST00000202556.9	-	10	1521	c.1239G>T	c.(1237-1239)ccG>ccT	p.P413P	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B			33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)			CCTCCACGCTCGGATCCTTCC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000202556.9	1	0	hg19	CCDS41997.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	1	0	0	20	492	0	113	0	4.160658e-01	0	35	0	113	2		0	0	0	0	0	2	1	0.999995	20	487	0	109	2		0	0	0	0	113	2	-2.796323	1	1	0	0		1	2	2	4	2.088023	0	0.190000	3.530000	0.319328	0.490000	0.300000	0.730000	0.480000	0.509654	0.490000	0	0.390000	0.610000
EFS	10278	broad.mit.edu	37	14	23829013	23829013	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:23829013C>A	ENST00000216733.3	-	4	1281	c.674G>T	c.(673-675)cGa>cTa	p.R225L	EFS_ENST00000351354.3_Missense_Mutation_p.R132L|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate			16	all_cancers(95;7.12e-06)				GGCTGACGCTCGTTTCAGGTT	0.622000																								0							SO:0001583	missense			ENST00000216733.3	1	0	hg19	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149251	0.37923	.	.	ENSG00000100842	ENST00000216733;ENST00000351354	T;T	0.59364	0.27;0.8	4.88	3.98	0.46160	.	0.541790	0.18247	N	0.147073	T	0.72495	0.3467	M	0.72894	2.215	0.80722	D	1	D;B	0.89917	1.0;0.023	D;B	0.87578	0.998;0.011	T	0.69446	-0.5143	10	0.25751	T	0.34	-15.8242	13.4706	0.61279	0.1582:0.8418:0.0:0.0	.	132;225	O43281-2;O43281	.;EFS_HUMAN	L	225;132	ENSP00000216733:R225L;ENSP00000340607:R132L	ENSP00000216733:R225L	R	-	2	0	EFS	22898853	0.998000	0.40836	0.958000	0.39756	0.003000	0.03518	2.042000	0.41222	1.271000	0.44313	-0.311000	0.09066	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2	1	0	0	25	467	0	97	0	3.209916e-01	0	22	0	97	2		0	0	0	0	0	2	1	1.000000	25	461	0	97	2		0	0	0	0	97	2	-2.876406	1	1	0	0		1	2	2	4	2.088023	0	0.190000	3.530000	0.319328	0.640000	0.420000	0.900000	0.640000	0.656039	0.640000	0	0.520000	0.780000
RABGGTA	5875	broad.mit.edu	37	14	24737795	24737795	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:24737795C>A	ENST00000399409.3	-	9	1414	c.931G>T	c.(931-933)Gac>Tac	p.D311Y	RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D311Y|RABGGTA_ENST00000560777.1_Intron	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit			12					GGCAACTGGTCGTTGAGGGAG	0.557000																								0							SO:0001583	missense			ENST00000399409.3	0	1	hg19	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269476	0.40095	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.52057	0.68;0.68	5.11	4.22	0.49857	Rab geranylgeranyltransferase, alpha subunit, insert-domain (4);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.63804	-0.6554	10	0.59425	D	0.04	-24.6605	13.0558	0.58980	0.0:0.9196:0.0:0.0804	.	311	Q92696	PGTA_HUMAN	Y	311;311;274	ENSP00000216840:D311Y;ENSP00000382341:D311Y	ENSP00000216840:D311Y	D	-	1	0	RABGGTA	23807635	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	4.232000	0.58645	1.292000	0.44672	-0.448000	0.05591	GAC		TCGA-XN-A8T3-01A-11D-A36O-08	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	0	0	0	12	478	0	90	0	5.093373e-01	0	66	0	90	2		0	0	0	0	0	2	1	0.999067	13	471	0	89	2		0	0	0	0	90	2	-3.222634	1	1	0	0		1	2	2	4	2.088023	0	0.190000	3.530000	0.319328	0.310000	0.160000	0.510000	0.320000	0.329550	0.310000	0	0.230000	0.420000
EML5	161436	broad.mit.edu	37	14	89124675	89124675	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:89124675G>T	ENST00000380664.5	-	26	3732	c.3733C>A	c.(3733-3735)Cgc>Agc	p.R1245S	EML5_ENST00000554922.1_Missense_Mutation_p.R1245S|EML5_ENST00000352093.5_Missense_Mutation_p.R1207S			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5			50					TAAGTCCAGCGAACATTTGTG	0.398000																								0							SO:0001583	missense			ENST00000380664.5	1	0	hg19	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616462	0.87359	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.37411	1.2;1.7;1.2	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	M	0.73217	2.22	0.58432	D	0.999999	D;D	0.76494	0.999;0.966	D;P	0.74348	0.983;0.727	T	0.56768	-0.7924	10	0.33940	T	0.23	-10.3411	17.9931	0.89175	0.0:0.0:1.0:0.0	.	1245;1245	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	S	1245;1207;1245	ENSP00000451998:R1245S;ENSP00000298315:R1207S;ENSP00000370039:R1245S	ENSP00000298315:R1207S	R	-	1	0	EML5	88194428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	2.550000	0.86006	0.557000	0.71058	CGC		TCGA-XN-A8T3-01A-11D-A36O-08	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1	1	0	0	28	603	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1.000000	27	591	0	95	2		0	0	0	0	95	2	-3.100434	1	1	0	0		1	2	2	4	2.088023	0	0.190000	3.530000	0.319328	0.550000	0.370000	0.780000	0.560000	0.571941	0.550000	0	0.460000	0.670000
LRRK1	79705	broad.mit.edu	37	15	101550769	101550769	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:101550769C>A	ENST00000388948.3	+	8	1463	c.1104C>A	c.(1102-1104)ttC>ttA	p.F368L	LRRK1_ENST00000284395.5_Missense_Mutation_p.F365L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1			72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		AAAAATTGTTCGAAGAAGAAA	0.343000																								0							SO:0001583	missense			ENST00000388948.3	1	0	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455231	0.63401	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.18174	2.23;2.23	5.67	-3.74	0.04385	.	0.149661	0.47852	D	0.000204	T	0.15089	0.0364	N	0.05351	-0.065	0.42164	D	0.991611	D	0.69078	0.997	P	0.60345	0.873	T	0.00710	-1.1599	10	0.48119	T	0.1	.	13.9495	0.64106	0.0:0.5923:0.0:0.4077	.	368	Q38SD2	LRRK1_HUMAN	L	368;365	ENSP00000373600:F368L;ENSP00000284395:F365L	ENSP00000284395:F365L	F	+	3	2	LRRK1	99368292	0.255000	0.24002	0.915000	0.36163	0.867000	0.49689	-0.694000	0.05115	-0.668000	0.05296	-0.290000	0.09829	TTC		TCGA-XN-A8T3-01A-11D-A36O-08	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	1	0	0	18	370	0	74	0	7.172799e-03	0	3	0	74	2		0	0	0	0	0	2	1	0.999982	18	366	0	74	2		0	0	0	0	74	2	-3.126996	1	1	0	0		1	1	2	3	1.919646	0	0.190000	3.530000	0.260274	0.540000	0.330000	0.800000	0.540000	0.557365	0.540000	0	0.420000	0.680000
TMOD2	29767	broad.mit.edu	37	15	52069169	52069169	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:52069169C>A	ENST00000249700.4	+	5	668	c.447C>A	c.(445-447)ttC>ttA	p.F149L	TMOD2_ENST00000539962.2_Missense_Mutation_p.F105L|TMOD2_ENST00000435126.2_Missense_Mutation_p.F149L	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)			16					ATCCAAAGTTCGATGAAGAAA	0.413000																								0							SO:0001583	missense			ENST00000249700.4	1	0	hg19	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	c	13.54	2.269001	0.40095	.	.	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	T;T;T	0.13538	2.58;2.59;2.59	5.64	-0.654	0.11443	.	0.281791	0.34700	N	0.003757	T	0.05640	0.0148	N	0.08118	0	0.30050	N	0.811855	B;B	0.14438	0.01;0.002	B;B	0.20955	0.032;0.009	T	0.26710	-1.0095	10	0.30078	T	0.28	-10.1337	6.8693	0.24111	0.1035:0.2248:0.0:0.6717	.	149;149	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	L	149;149;105	ENSP00000404590:F149L;ENSP00000249700:F149L;ENSP00000437743:F105L	ENSP00000249700:F149L	F	+	3	2	TMOD2	49856461	1.000000	0.71417	0.991000	0.47740	0.824000	0.46624	0.535000	0.23114	-0.247000	0.09597	-1.128000	0.01989	TTC		TCGA-XN-A8T3-01A-11D-A36O-08	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2	1	0	0	22	391	0	77	0	1.226083e-01	0	11	0	77	2		0	0	0	0	0	2	1	0.999999	21	388	0	77	2		0	0	0	0	77	2	-3.221195	1	1	0	0		1	1	2	3	1.919646	0	0.190000	3.530000	0.260274	0.610000	0.400000	0.890000	0.600000	0.634088	0.610000	0	0.500000	0.760000
KCTD13	253980	broad.mit.edu	37	16	29937241	29937241	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:29937241C>A	ENST00000568000.1	-	1	1115	c.114G>T	c.(112-114)ccG>ccT	p.P38P	KCTD13_ENST00000561540.1_Silent_p.P38P|CTD-2574D22.2_ENST00000450909.3_RNA|KCTD13_ENST00000568721.1_5'UTR	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13			7					ATTTGCTGTTCGGGGTCAGCG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000568000.1	1	0	hg19	CCDS10661.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255162.2	1	0	0	11	290	0	57	0	1.338985e-01	0	16	0	57	2		0	0	0	0	0	2	1	0.998324	11	287	0	56	2		0	0	0	0	57	2	-11.947390	1	0	0	0		1	1	2	3	1.938267	0	0.190000	3.530000	0.260274	0.430000	0.220000	0.710000	0.420000	0.452170	0.430000	0	0.320000	0.570000
STX4	6810	broad.mit.edu	37	16	31045573	31045573	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:31045573C>A	ENST00000313843.3	+	3	474	c.159C>A	c.(157-159)gtC>gtA	p.V53V	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Silent_p.V51V	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4			9					AGACTATTGTCAAACTGGGGA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000313843.3	1	0	hg19	CCDS10700.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	1	0	0	30	704	0	148	0	9.797247e-01	0	147	0	148	2		0	0	0	0	0	2	1	1.000000	29	699	0	146	2		0	0	0	0	148	2	-4.124451	1	0	0	0		1	1	2	3	1.938267	0	0.190000	3.530000	0.260274	0.470000	0.320000	0.650000	0.480000	0.483606	0.470000	0	0.390000	0.570000
HYDIN	54768	broad.mit.edu	37	16	70843895	70843895	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:70843895C>A	ENST00000393567.2	-	85	14824	c.14674G>T	c.(14674-14676)Gaa>Taa	p.E4892*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein			43		Ovarian(137;0.0654)			GGCTGAAATTCAAATGAGAAC	0.483000																								0							SO:0001587	stop_gained			ENST00000393567.2	0	1	hg19	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	56	26.157347	0.99968	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	6.08	6.08	0.98989	.	0.000000	0.31797	U	0.007056	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	X	4892;4891	.	ENSP00000313052:E4891X	E	-	1	0	HYDIN	69401396	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.302000	0.78861	2.894000	0.99253	0.655000	0.94253	GAA		TCGA-XN-A8T3-01A-11D-A36O-08	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0	0	0	29	814	0	237	0	7.401087e-03	0	4	0	237	2		0	0	0	0	0	2	1	1.000000	29	806	0	235	2		0	0	0	0	237	2	-3.035857	1	1	0	0		1	1	2	3	1.939292	0	0.190000	3.530000	0.260274	0.390000	0.260000	0.550000	0.390000	0.407838	0.390000	0	0.320000	0.480000
SLC5A10	125206	broad.mit.edu	37	17	18872442	18872442	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:18872442C>A	ENST00000395645.3	+	6	549	c.531C>A	c.(529-531)ctC>ctA	p.L177L	SLC5A10_ENST00000395642.1_Silent_p.L121L|SLC5A10_ENST00000395643.2_Silent_p.L177L|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000317977.6_Silent_p.L121L|SLC5A10_ENST00000417251.2_Silent_p.L177L|SLC5A10_ENST00000395647.2_Silent_p.L177L	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10			24					TCCTCACGCTCGGCATCACAG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000395645.3	1	0	hg19	CCDS42275.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	1	0	0	16	216	0	47	0	9.331962e-01	0	65	0	47	2		0	0	0	0	0	2	1	0.999938	16	214	0	46	2		0	0	0	0	47	2	-2.966721	1	1	0	0		1	0	2	2	1.782824	1	0.190000	3.530000	0.190000	0.730000	0.430000	1.000000	1.000000	0.742269	0.730000	0	0.570000	0.920000
FLOT2	2319	broad.mit.edu	37	17	27208342	27208342	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:27208342G>T	ENST00000394908.4	-	9	1070	c.966C>A	c.(964-966)atC>atA	p.I322I	FLOT2_ENST00000394906.2_Silent_p.I377I|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.I322I	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2			11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		CCGCCTCCCCGATTTTGCGGA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000394908.4	1	0	hg19	CCDS11245.2																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	1	0	0	18	341	0	91	0	9.996707e-01	0	250	0	91	2		0	0	0	0	0	2	1	0.999981	18	336	0	90	2		0	0	0	0	91	2	-2.917909	1	1	0	0		1	1	2	3	1.946416	0	0.190000	3.530000	0.260274	0.580000	0.360000	0.870000	0.570000	0.601563	0.580000	0	0.460000	0.730000
CDC6	990	broad.mit.edu	37	17	38451686	38451686	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:38451686C>A	ENST00000209728.4	+	8	1633	c.1162C>A	c.(1162-1164)Cgc>Agc	p.R388S		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6			21					AGGAGATGTTCGCAAAGCACT	0.393000																								0							SO:0001583	missense			ENST00000209728.4	1	0	hg19	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039774	0.75732	.	.	ENSG00000094804	ENST00000209728	T	0.64438	-0.1	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.87055	0.6082	H	0.96943	3.91	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.90538	0.4500	10	0.87932	D	0	-1.1769	19.185	0.93639	0.0:1.0:0.0:0.0	.	388	Q99741	CDC6_HUMAN	S	388	ENSP00000209728:R388S	ENSP00000209728:R388S	R	+	1	0	CDC6	35705212	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.941000	0.56607	2.835000	0.97688	0.591000	0.81541	CGC		TCGA-XN-A8T3-01A-11D-A36O-08	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1	1	0	0	25	628	0	128	0	1.059033e-01	0	14	0	128	2		0	0	0	0	0	2	1	1.000000	25	612	0	126	2		0	0	0	0	128	2	-2.885708	1	1	0	0		1	1	2	3	1.938332	0	0.190000	3.530000	0.260274	0.440000	0.290000	0.630000	0.450000	0.455544	0.440000	0	0.360000	0.540000
KRT27	342574	broad.mit.edu	37	17	38938439	38938439	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:38938439G>T	ENST00000301656.3	-	1	347	c.307C>A	c.(307-309)Cga>Aga	p.R103R		NM_181537.3	NP_853515.2			keratin 27			21		Breast(137;0.000812)			TCTAGGGCTCGAACATTCTCC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000301656.3	1	0	hg19	CCDS11375.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	1	0	0	23	530	0	155		0	0	0	0	155	2		0	0	0	0	0	2	1	0.999999	22	523	0	153	2		0	0	0	0	155	2	-3.034940	1	1	0	0		1	1	2	3	1.938332	0	0.190000	3.530000	0.260274	0.480000	0.310000	0.690000	0.480000	0.495877	0.480000	0	0.390000	0.590000
KRTAP9-9	81870	broad.mit.edu	37	17	39412064	39412064	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39412064G>A	ENST00000394008.1	+	1	429	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9			6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)		CTGCCGCCCCGCCTGCTGTGA	0.612000																								0							SO:0001583	missense			ENST00000394008.1	1	1	hg19	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.507999	0.44558	0.0	1.16E-4	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.01295	5.04	2.85	-2.54	0.06307	.	.	.	.	.	T	0.00524	0.0017	N	0.00879	-1.12	0.09310	N	1	B	0.17268	0.021	B	0.08055	0.003	T	0.44982	-0.9292	9	0.37606	T	0.19	.	3.7095	0.08414	0.5122:0.0:0.3091:0.1786	.	128	Q9BYP9	KRA99_HUMAN	T	149;143	ENSP00000377576:A143T	ENSP00000377576:A143T	A	+	1	0	KRTAP9-9	36665590	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-1.026000	0.03596	-0.748000	0.04753	0.205000	0.17691	GCC		TCGA-XN-A8T3-01A-11D-A36O-08	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	0	0	0	62	676	1	232		0	0	0	1	232	2		0	0	0	0	0	2	1	1.000000	61	660	1	234	12		0	0	0	1	232	2	-14.632700	1	0	121412	9	46	1	1	2	3	1.938332	0	0.190000	3.530000	0.260274	0.960000	0.750000	1.000000	1.000000	0.940455	0.960000	1	0.850000	1.000000
MPP3	4356	broad.mit.edu	37	17	41886383	41886383	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:41886383G>T	ENST00000398389.4	-	19	1687	c.1522C>A	c.(1522-1524)Cag>Aag	p.Q508K	MPP3_ENST00000398393.1_Missense_Mutation_p.Q533K	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)			26		Breast(137;0.00394)			CTTTTTTCCTGAATTGCAGGC	0.378000																								0							SO:0001583	missense			ENST00000398389.4	0	1	hg19	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	G	8.912	0.959001	0.18507	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.15603	2.41;2.41	5.36	5.36	0.76844	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.278923	0.35291	N	0.003309	T	0.10937	0.0267	N	0.12471	0.22	0.29701	N	0.840156	B;B	0.18741	0.03;0.03	B;B	0.29440	0.071;0.102	T	0.13737	-1.0498	10	0.25751	T	0.34	.	11.4234	0.49996	0.0828:0.0:0.9172:0.0	.	508;533	Q13368;D3DX46	MPP3_HUMAN;.	K	533;508	ENSP00000381430:Q533K;ENSP00000381425:Q508K	ENSP00000381425:Q508K	Q	-	1	0	MPP3	39241909	0.999000	0.42202	0.988000	0.46212	0.988000	0.76386	3.512000	0.53407	2.782000	0.95742	0.655000	0.94253	CAG		TCGA-XN-A8T3-01A-11D-A36O-08	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	0	0	0	15	624	0	125	0	9.014341e-02	0	20	0	125	2		0	0	0	0	0	2	1	0.999863	15	617	0	124	2		0	0	0	0	125	2	-2.812601	1	1	0	0		1	1	2	3	1.938332	0	0.190000	3.530000	0.260274	0.270000	0.150000	0.430000	0.270000	0.286426	0.270000	0	0.210000	0.350000
MSI2	124540	broad.mit.edu	37	17	55339540	55339540	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:55339540G>T	ENST00000284073.2	+	5	508	c.299G>T	c.(298-300)cGa>cTa	p.R100L	MSI2_ENST00000416426.2_Missense_Mutation_p.R78L|MSI2_ENST00000322684.3_Missense_Mutation_p.R96L	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	p.R96Q(1)		7	Breast(9;1.78e-08)				TTTCCTCGTCGAGCGCAACCC	0.363000			T	HOXA9	CML										Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	1	Substitution - Missense(1)						SO:0001583	missense			ENST00000284073.2	1	0	hg19	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275249	0.59649	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684	D;D;D	0.85702	-2.02;-2.02;-2.02	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.178825	0.34725	N	0.003737	D	0.89983	0.6873	L	0.39514	1.22	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.91635	0.968;0.999;0.983	D	0.90033	0.4136	10	0.66056	D	0.02	.	19.3906	0.94581	0.0:0.0:1.0:0.0	.	78;96;100	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	L	78;100;96	ENSP00000414671:R78L;ENSP00000284073:R100L;ENSP00000313616:R96L	ENSP00000284073:R100L	R	+	2	0	MSI2	52694539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.454000	0.90352	2.827000	0.97445	0.650000	0.86243	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1	1	0	0	25	540	0	111	0	6.051497e-01	0	45	0	111	2		0	0	0	0	0	2	1	1.000000	22	524	0	109	2		0	0	0	0	111	2	-2.873120	1	1	0	0		1	1	2	3	1.941427	0	0.190000	3.530000	0.260274	0.510000	0.330000	0.720000	0.510000	0.525888	0.510000	0	0.410000	0.620000
HEATR6	63897	broad.mit.edu	37	17	58125680	58125680	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:58125680G>T	ENST00000184956.6	-	17	2633	c.2617C>A	c.(2617-2619)Cga>Aga	p.R873R	HEATR6_ENST00000585976.1_Silent_p.R761R	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	p.R873*(1)		44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		GCTTTGGCTCGAACATTCAGA	0.453000																								1	Substitution - Nonsense(1)						SO:0001819	synonymous_variant			ENST00000184956.6	1	0	hg19	CCDS11623.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	1	0	0	15	244	0	68	0	3.685742e-01	0	21	0	68	2		0	0	0	0	0	2	1	0.999859	15	237	0	67	2		0	0	0	0	68	2	-3.078274	1	1	0	0		1	1	2	3	1.941427	0	0.190000	3.530000	0.260274	0.670000	0.390000	1.000000	1.000000	0.694429	0.670000	0	0.520000	0.860000
HEATR6	63897	broad.mit.edu	37	17	58136792	58136792	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:58136792G>T	ENST00000184956.6	-	11	1730	c.1714C>A	c.(1714-1716)Cgc>Agc	p.R572S	HEATR6_ENST00000585976.1_Missense_Mutation_p.R572S	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6			44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		CCTTTGTGGCGAATATAAGGC	0.348000																								0							SO:0001583	missense			ENST00000184956.6	1	0	hg19	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334590	0.60853	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.62788	-0.0	5.62	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.149427	0.64402	D	0.000008	T	0.45597	0.1350	L	0.39020	1.185	0.45883	D	0.998739	B;B	0.34241	0.088;0.444	B;B	0.29176	0.099;0.097	T	0.34576	-0.9823	10	0.12430	T	0.62	-3.339	10.4854	0.44719	0.1647:0.0:0.8353:0.0	.	419;572	E7ESB9;Q6AI08	.;HEAT6_HUMAN	S	572;419	ENSP00000184956:R572S	ENSP00000184956:R572S	R	-	1	0	HEATR6	55491574	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.291000	0.59025	1.532000	0.49169	0.585000	0.79938	CGC		TCGA-XN-A8T3-01A-11D-A36O-08	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	1	0	0	12	344	0	64	0	1.283188e-01	0	17	0	64	2		0	0	0	0	0	2	1	0.999124	12	342	0	64	2		0	0	0	0	64	2	-2.918380	1	1	0	0		1	1	2	3	1.941427	0	0.190000	3.530000	0.260274	0.390000	0.210000	0.640000	0.390000	0.415218	0.390000	0	0.290000	0.520000
ABCA9	10350	broad.mit.edu	37	17	67016572	67016572	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:67016572G>T	ENST00000340001.4	-	19	2768	c.2557C>A	c.(2557-2559)Cgc>Agc	p.R853S	ABCA9_ENST00000370732.2_Missense_Mutation_p.R853S|ABCA9_ENST00000453985.2_Missense_Mutation_p.R853S|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9			91	Breast(10;1.47e-12)				TTTAGGAAGCGAACTTTTGCT	0.398000																								0							SO:0001583	missense			ENST00000340001.4	1	0	hg19	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673732	0.88445	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.79653	-1.29;-1.29	5.08	5.08	0.68730	.	0.000000	0.46442	D	0.000283	D	0.90007	0.6880	M	0.80982	2.52	0.40094	D	0.97629	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.973	D	0.91683	0.5360	10	0.87932	D	0	.	17.3792	0.87400	0.0:0.0:1.0:0.0	.	853;853	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	853;836;853;848	ENSP00000342216:R853S;ENSP00000359767:R853S	ENSP00000342216:R853S	R	-	1	0	ABCA9	64528167	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.216000	0.77974	2.525000	0.85131	0.543000	0.68304	CGC		TCGA-XN-A8T3-01A-11D-A36O-08	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	0	26	536	0	100	0	6.850329e-03	0	3	0	100	2		0	0	0	0	0	2	1	1.000000	26	530	0	99	2		0	0	0	0	100	2	-3.305096	1	1	0	0		1	1	2	3	1.941427	0	0.190000	3.530000	0.260274	0.530000	0.350000	0.750000	0.540000	0.549002	0.530000	0	0.440000	0.650000
ST6GALNAC1	55808	broad.mit.edu	37	17	74625340	74625340	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:74625340G>T	ENST00000156626.7	-	2	784	c.585C>A	c.(583-585)ctC>ctA	p.L195L	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1			22					TTTTGGGAATGAGCGTCTTGG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000156626.7	1	0	hg19	CCDS11748.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	1	0	0	28	616	0	152	0	8.605182e-02	0	11	0	152	2		0	0	0	0	0	2	1	1.000000	28	609	0	151	2		0	0	0	0	152	2	-4.159221	1	0	0	0		1	1	2	3	1.941427	0	0.190000	3.530000	0.260274	0.500000	0.340000	0.700000	0.510000	0.515155	0.500000	0	0.410000	0.600000
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		TCGA-XN-A8T3-01A-11D-A36O-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	18	94	0	24	1	9.983940e-01	13	46	0	24	2	1	1	142	668	0	930	2	1	0.999981	16	89	0	24	2		0	0	0	0	24	2	-20.000000	1	1	121412	1	37	1	0	2	2	1.764039	1	0.190000	3.530000	0.190000	0.990000	0.990000	1.000000	1.000000	0.998512	0.990000	1	0.990000	1.000000
CDH2	1000	broad.mit.edu	37	18	25570308	25570308	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:25570308C>A	ENST00000269141.3	-	10	1774	c.1351G>T	c.(1351-1353)Gac>Tac	p.D451Y	CDH2_ENST00000399380.3_Missense_Mutation_p.D420Y	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)			82					GTTTCAAAGTCGATTGGCTGG	0.393000																								0							SO:0001583	missense			ENST00000269141.3	1	0	hg19	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555450	0.65425	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.65549	-0.16;-0.16	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80369	0.4610	H	0.98005	4.125	0.80722	D	1	P;P	0.42649	0.786;0.72	B;B	0.41332	0.354;0.185	D	0.86547	0.1832	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	420;451	A8MWK3;P19022	.;CADH2_HUMAN	Y	451;420	ENSP00000269141:D451Y;ENSP00000382312:D420Y	ENSP00000269141:D451Y	D	-	1	0	CDH2	23824306	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAC		TCGA-XN-A8T3-01A-11D-A36O-08	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	1	0	0	14	305	0	64	0	4.371911e-01	0	32	0	64	2		0	0	0	0	0	2	1	0.999732	13	299	0	63	2		0	0	0	0	64	2	-15.252200	1	1	0	0		1	2	2	4	1.864403	1	0.190000	3.530000	0.244544	0.550000	0.300000	1.000000	0.490000	0.631141	0.550000	0	0.400000	1.000000
ZNF442	79973	broad.mit.edu	37	19	12461420	12461420	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:12461420C>A	ENST00000242804.4	-	6	1561	c.979G>T	c.(979-981)Ggg>Tgg	p.G327W	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.G258W	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442			31					AATGCTTTCCCGCATTGCTTG	0.418000																								0							SO:0001583	missense			ENST00000242804.4	0	1	hg19	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379391	0.42207	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.01051	5.4;5.4	0.832	-0.357	0.12579	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08358	0.0208	H	0.96080	3.765	0.34524	D	0.708446	D	0.89917	1.0	D	0.97110	1.0	T	0.05131	-1.0904	9	0.87932	D	0	.	5.1771	0.15141	0.0:0.7619:0.0:0.2381	.	327	Q9H7R0	ZN442_HUMAN	W	327;258	ENSP00000242804:G327W;ENSP00000388634:G258W	ENSP00000242804:G327W	G	-	1	0	ZNF442	12322420	0.009000	0.17119	0.000000	0.03702	0.227000	0.25037	0.946000	0.29069	-0.077000	0.12752	0.313000	0.20887	GGG		TCGA-XN-A8T3-01A-11D-A36O-08	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	0	0	0	11	1010	0	317	0	8.756327e-04	0	4	0	317	2		0	0	0	0	0	2	1	0.998185	11	996	0	317	2		0	0	0	0	317	2	-1.642139	0	1	0	0		1	1	2	3	1.790940	0	0.190000	3.530000	0.203618	0.120000	0.050000	1.000000	0.110000	0.246784	0.120000	0	0.080000	0.210000
ZNF14	7561	broad.mit.edu	37	19	19824904	19824904	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:19824904G>T	ENST00000344099.3	-	3	325	c.187C>A	c.(187-189)Cga>Aga	p.R63R		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	p.R63*(1)		32		Renal(1328;0.0474)			ACTCACCTTCGATTTTTCCCC	0.368000																								1	Substitution - Nonsense(1)						SO:0001819	synonymous_variant			ENST00000344099.3	1	0	hg19	CCDS12409.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	1	0	0	22	514	0	109	0	7.944101e-02	0	11	0	109	2		0	0	0	0	0	2	1	0.999999	20	509	0	106	2		0	0	0	0	109	2	-2.884132	1	1	0	0		1	1	2	3	1.790940	0	0.190000	3.530000	0.203618	0.460000	0.280000	1.000000	0.430000	0.530255	0.460000	0	0.360000	0.650000
ZNF461	92283	broad.mit.edu	37	19	37130742	37130742	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:37130742G>T	ENST00000588268.1	-	6	732	c.505C>A	c.(505-507)Cat>Aat	p.H169N	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.H146N	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461			29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		ATGTTTTCATGGTTAATCATA	0.358000																								0							SO:0001583	missense			ENST00000588268.1	0	1	hg19	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.127098	0.01770	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.05855	3.38	3.87	0.209	0.15226	.	.	.	.	.	T	0.04679	0.0127	L	0.39898	1.24	0.09310	N	1	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.08055	0.002;0.003;0.003	T	0.45056	-0.9287	9	0.19590	T	0.45	.	3.5785	0.07943	0.2434:0.2122:0.5444:0.0	.	146;91;169	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	N	169;146;42;104	ENSP00000353515:H146N	ENSP00000353515:H146N	H	-	1	0	ZNF461	41822582	0.004000	0.15560	0.001000	0.08648	0.041000	0.13682	0.721000	0.25911	0.399000	0.25367	-0.150000	0.13652	CAT		TCGA-XN-A8T3-01A-11D-A36O-08	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	0	0	0	14	976	0	183	0	2.436410e-04	0	2	0	183	2		0	0	0	0	0	2	1	0.999728	14	964	0	182	2		0	0	0	0	183	2	-1.891827	0	1	0	0		1	2	3	5	2.226927	1	0.190000	3.530000	0.364008	0.190000	0.100000	1.000000	0.200000	0.225330	0.190000	0	0.140000	0.260000
DLL3	10683	broad.mit.edu	37	19	39998549	39998549	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:39998549C>A	ENST00000205143.4	+	8	1760	c.1753C>A	c.(1753-1755)Cgg>Agg	p.R585R	DLL3_ENST00000356433.5_Silent_p.R585R	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)			19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		CATCTACGCTCGGGAGGTAGC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000205143.4	1	0	hg19	CCDS12538.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1	1	0	0	18	379	0	75	0	2.141656e-02	0	5	0	75	2		0	0	0	0	0	2	1	0.999980	16	374	0	74	2		0	0	0	0	75	2	-3.090621	1	1	0	0		1	2	3	5	2.226927	1	0.190000	3.530000	0.364008	0.620000	0.370000	1.000000	0.590000	0.645314	0.620000	0	0.490000	0.800000
PPFIA3	8541	broad.mit.edu	37	19	49651448	49651448	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:49651448C>A	ENST00000334186.4	+	24	3293	c.2944C>A	c.(2944-2946)Cga>Aga	p.R982R	PPFIA3_ENST00000602351.1_Silent_p.R973R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3			35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)			GGTGGACGCTCGAATGTTAGA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000334186.4	1	0	hg19	CCDS12758.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	1	0	0	15	297	0	62	0	3.477715e-02	0	6	0	62	2		0	0	0	0	0	2	1	0.999869	15	294	0	61	2		0	0	0	0	62	2	-2.933436	1	1	0	0		1	3	4	7	2.294134	1	0.190000	3.530000	0.385549	0.740000	0.410000	1.000000	1.000000	0.762736	0.740000	0	0.550000	1.000000
MYADM	91663	broad.mit.edu	37	19	54377360	54377360	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:54377360G>T	ENST00000391769.2	+	3	857	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	MYADM_ENST00000336967.3_Missense_Mutation_p.D193Y|MYADM_ENST00000391771.1_Missense_Mutation_p.D193Y|MYADM_ENST00000391770.4_Missense_Mutation_p.D193Y|MYADM_ENST00000391768.2_Missense_Mutation_p.D193Y|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker			12	Ovarian(34;0.19)				GTTCATCAGCGACCCCAACCT	0.642000																								0							SO:0001583	missense			ENST00000391769.2	1	0	hg19	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	G	3.909	-0.020465	0.07634	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82	4.21	-5.25	0.02781	Marvel (1);MARVEL-like domain (1);	1.023760	0.07811	N	0.958108	T	0.27098	0.0664	L	0.41710	1.295	0.09310	N	1	P	0.42941	0.794	P	0.46076	0.503	T	0.41431	-0.9509	10	0.56958	D	0.05	-2.8128	14.9568	0.71120	0.1028:0.0:0.8972:0.0	.	193	Q96S97	MYADM_HUMAN	Y	193;193;193;193;193;156;193;193	ENSP00000398269:D193Y;ENSP00000337222:D193Y;ENSP00000375650:D193Y;ENSP00000416919:D193Y;ENSP00000375651:D193Y;ENSP00000375649:D193Y;ENSP00000375648:D193Y	ENSP00000337222:D193Y	D	+	1	0	MYADM	59069172	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.121000	0.15667	-1.181000	0.02730	-0.657000	0.03884	GAC		TCGA-XN-A8T3-01A-11D-A36O-08	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	1	0	0	30	651	0	114	0	9.999941e-01	0	400	0	114	2		0	0	0	0	0	2	1	1.000000	30	644	0	114	2		0	0	0	0	114	2	-3.279883	1	1	0	0		1	3	4	7	2.294134	1	0.190000	3.530000	0.385549	0.650000	0.430000	1.000000	0.600000	0.707564	0.650000	0	0.520000	1.000000
C19orf18	147685	broad.mit.edu	37	19	58477954	58477954	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:58477954C>A	ENST00000314391.3	-	4	416	c.315G>T	c.(313-315)tcG>tcT	p.S105S		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18			8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)			AGGCTACGCTCGAAATTAAAA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000314391.3	1	0	hg19	CCDS12967.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	1	0	0	23	473	0	63	0	6.964828e-03	0	3	0	63	2		0	0	0	0	0	2	1	0.999999	23	467	0	60	2		0	0	0	0	63	2	-2.750138	1	1	0	0		1	3	3	6	2.304241	1	0.190000	3.530000	0.387755	0.670000	0.420000	1.000000	0.640000	0.707614	0.670000	0	0.540000	0.910000
INSR	3643	broad.mit.edu	37	19	7163065	7163065	+	Missense_Mutation	SNP	G	G	T	rs2962	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:7163065G>T	ENST00000302850.5	-	9	2149	c.2007C>A	c.(2005-2007)ttC>ttA	p.F669L	INSR_ENST00000341500.5_Missense_Mutation_p.F669L|AC010311.1_ENST00000581768.1_RNA	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor			66				"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	AATCCAGCTCGAACAGCTCAC	0.537000																								0							SO:0001583	missense			ENST00000302850.5	1	0	hg19	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193146	0.38707	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.71934	-0.61;-0.61	4.45	-4.7	0.03288	Fibronectin, type III (3);	0.184367	0.25804	U	0.028188	T	0.56001	0.1956	L	0.43152	1.355	0.33845	P	0.368139	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.08055	0.003;0.002;0.003	T	0.45366	-0.9266	9	0.62326	D	0.03	.	11.1006	0.48172	0.7214:0.0:0.2786:0.0	.	660;669;669	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	L	669	ENSP00000303830:F669L;ENSP00000342838:F669L	ENSP00000303830:F669L	F	-	3	2	INSR	7114065	0.967000	0.33354	0.091000	0.20842	0.524000	0.34500	0.178000	0.16820	-0.681000	0.05204	-0.140000	0.14226	TTC		TCGA-XN-A8T3-01A-11D-A36O-08	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1	1	0	0	17	388	0	133	0	4.396495e-01	0	34	0	133	2		0	0	0	0	0	2	1	0.999963	17	382	0	133	2		0	0	0	0	133	2	-2.560141	1	1	0	0		1	1	2	3	1.790940	0	0.190000	3.530000	0.203618	0.470000	0.280000	1.000000	0.440000	0.542793	0.470000	0	0.360000	0.700000
S1PR1	1901	broad.mit.edu	37	1	101705326	101705326	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:101705326G>T	ENST00000305352.6	+	2	1161	c.786G>T	c.(784-786)ctG>ctT	p.L262L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1			43					TTATCGTCCTGAGCGTCTTCA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000305352.6	1	0	hg19	CCDS777.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	1	0	0	31	670	0	171	0	5.547806e-01	0	41	0	171	2		0	0	0	0	0	2	1	1.000000	31	661	0	170	2		0	0	0	0	171	2	-2.803092	1	1	0	0		1	2	2	4	2.091950	0	0.190000	3.530000	0.319328	0.550000	0.380000	0.760000	0.560000	0.568464	0.550000	0	0.460000	0.660000
KCNA3	3738	broad.mit.edu	37	1	111215758	111215758	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:111215758C>A	ENST00000369769.2	-	1	1897	c.1674G>T	c.(1672-1674)acG>acT	p.T558T		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3			38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Dalfampridine(DB06637)	GATTATTGTTCGTGGTGCAGG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000369769.2	1	0	hg19	CCDS828.2																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	1	0	0	25	662	0	148	0	0	0	1	0	148	2		0	0	0	0	0	2	1	1.000000	25	647	0	144	2		0	0	0	0	148	2	-2.894383	1	1	0	0		1	2	2	4	2.091950	0	0.190000	3.530000	0.319328	0.450000	0.300000	0.650000	0.440000	0.471236	0.450000	0	0.370000	0.560000
ST7L	54879	broad.mit.edu	37	1	113098534	113098534	+	Missense_Mutation	SNP	C	C	A	rs6658555	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:113098534C>A	ENST00000358039.4	-	12	1656	c.1352G>T	c.(1351-1353)cGa>cTa	p.R451L	ST7L_ENST00000360743.4_Missense_Mutation_p.R451L|ST7L_ENST00000369669.1_Missense_Mutation_p.R268L|ST7L_ENST00000369666.1_Missense_Mutation_p.R434L|ST7L_ENST00000538187.1_Missense_Mutation_p.R395L|ST7L_ENST00000343210.7_Missense_Mutation_p.R451L|ST7L_ENST00000369668.2_Missense_Mutation_p.R451L|ST7L_ENST00000544629.1_Missense_Mutation_p.R386L|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000490067.1_Missense_Mutation_p.R434L	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	p.R451Q(1)		15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)			ACCTTCTATTCGTTTCCAGTG	0.363000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000358039.4	1	0	hg19	CCDS848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.158765|5.158765	0.94686|0.94686	.|.	.|.	ENSG00000007341|ENSG00000007341	ENST00000418497|ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187	.|T;T;T;T;T;T;T;T;T	.|0.22336	.|1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.43942	.|0.1270	M|M	0.79475|0.79475	2.455|2.455	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.994;1.0;0.974;0.996;0.993;0.993;0.998;0.994	.|P;D;D;D;P;D;D;D	.|0.91635	.|0.855;0.999;0.917;0.951;0.822;0.958;0.972;0.975	.|T	.|0.42783	.|-0.9431	.|9	.|0.72032	.|D	.|0.01	-6.2202|-6.2202	19.1881|19.1881	0.93653|0.93653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|395;386;386;451;434;434;451;451	.|B7Z7D4;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.|.;.;.;.;.;.;.;ST7L_HUMAN	X|L	226|451;451;232;386;268;434;451;451;434;395	.|ENSP00000350734:R451L;ENSP00000353972:R451L;ENSP00000445499:R386L;ENSP00000358683:R268L;ENSP00000417140:R434L;ENSP00000358682:R451L;ENSP00000345312:R451L;ENSP00000358680:R434L;ENSP00000444021:R395L	.|ENSP00000345312:R451L	E|R	-|-	1|2	0|0	ST7L|ST7L	112900057|112900057	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.968000|0.968000	0.65278|0.65278	6.086000|6.086000	0.71352|0.71352	2.625000|2.625000	0.88918|0.88918	0.585000|0.585000	0.79938|0.79938	GAA|CGA		TCGA-XN-A8T3-01A-11D-A36O-08	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3	1	0	0	19	465	0	78	0	7.460477e-02	0	11	0	78	2		0	0	0	0	0	2	1	0.999990	20	459	0	78	2		0	0	0	0	78	2	-2.285200	0	1	0	0		1	2	2	4	2.091950	0	0.190000	3.530000	0.319328	0.490000	0.300000	0.740000	0.480000	0.513222	0.490000	0	0.390000	0.620000
LRIG2	9860	broad.mit.edu	37	1	113653034	113653034	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:113653034C>A	ENST00000361127.5	+	13	1846	c.1648C>A	c.(1648-1650)Cgt>Agt	p.R550S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2			31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)			GAATTTTGTTCGTTATTGGCA	0.418000																								0							SO:0001583	missense			ENST00000361127.5	1	0	hg19	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	c	14.42	2.530545	0.45073	.	.	ENSG00000198799	ENST00000361127	T	0.37752	1.18	5.89	4.93	0.64822	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053044	0.64402	D	0.000001	T	0.18425	0.0442	L	0.43701	1.375	0.53005	D	0.999965	B	0.23540	0.087	B	0.30401	0.115	T	0.02844	-1.1103	10	0.14656	T	0.56	.	14.3328	0.66569	0.2175:0.7825:0.0:0.0	.	550	O94898	LRIG2_HUMAN	S	550	ENSP00000355396:R550S	ENSP00000355396:R550S	R	+	1	0	LRIG2	113454557	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.514000	0.53422	2.793000	0.96121	0.655000	0.94253	CGT		TCGA-XN-A8T3-01A-11D-A36O-08	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	1	0	0	28	705	0	139	0	1.178861e-01	0	15	0	139	2		0	0	0	0	0	2	1	1.000000	27	695	0	139	2		0	0	0	0	139	2	-2.915294	1	1	0	0		1	2	2	4	2.091950	0	0.190000	3.530000	0.319328	0.480000	0.320000	0.670000	0.480000	0.492810	0.480000	0	0.390000	0.580000
MAGI3	260425	broad.mit.edu	37	1	114184571	114184571	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:114184571G>T	ENST00000307546.9	+	10	1474	c.1399G>T	c.(1399-1401)Ggt>Tgt	p.G467C	MAGI3_ENST00000369617.4_Missense_Mutation_p.G492C|MAGI3_ENST00000369615.1_Missense_Mutation_p.G467C|MAGI3_ENST00000369611.4_Missense_Mutation_p.G467C	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3			41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)			CTGTGTCCTCGGTCACACTCA	0.358000																								0							SO:0001583	missense			ENST00000307546.9	0	1	hg19	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456418	0.84317	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89889	0.4036	10	0.87932	D	0	-28.5003	19.4992	0.95086	0.0:0.0:1.0:0.0	.	467;467;492	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	C	492;467;467;467	ENSP00000358630:G492C;ENSP00000304604:G467C;ENSP00000358628:G467C;ENSP00000358624:G467C	ENSP00000304604:G467C	G	+	1	0	MAGI3	113986094	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.420000	0.97426	2.689000	0.91719	0.655000	0.94253	GGT		TCGA-XN-A8T3-01A-11D-A36O-08	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	0	0	0	11	594	0	107	0	8.195098e-03	0	7	0	107	2		0	0	0	0	0	2	1	0.998142	10	582	0	107	2		0	0	0	0	107	2	-2.560730	1	1	121412	1	31	1	2	2	4	2.091950	0	0.190000	3.530000	0.319328	0.230000	0.110000	0.390000	0.240000	0.246771	0.230000	0	0.170000	0.310000
PHTF1	10745	broad.mit.edu	37	1	114280825	114280825	+	Silent	SNP	G	G	T	rs78000844		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:114280825G>T	ENST00000369604.1	-	5	721	c.238C>A	c.(238-240)Cga>Aga	p.R80R	PHTF1_ENST00000393357.2_Silent_p.R80R|PHTF1_ENST00000447664.2_Silent_p.R80R|PHTF1_ENST00000369596.2_Intron|PHTF1_ENST00000357783.2_Silent_p.R80R|PHTF1_ENST00000369598.1_Silent_p.R80R|PHTF1_ENST00000369600.1_Intron			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1			27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)			AATACAACTCGAACAAGCCCC	0.358000																								0							SO:0001819	synonymous_variant			ENST00000369604.1	1	0	hg19	CCDS861.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	1	0	0	17	347	0	64	0	3.651310e-01	0	26	0	64	2		0	0	0	0	0	2	1	0.999960	17	338	0	64	2		0	0	0	0	64	2	-4.614483	1	1	0	0		1	2	2	4	2.091950	0	0.190000	3.530000	0.319328	0.590000	0.350000	0.890000	0.590000	0.611940	0.590000	0	0.460000	0.750000
CRNN	49860	broad.mit.edu	37	1	152383339	152383339	+	Silent	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152383339T>C	ENST00000271835.3	-	3	281	c.219A>G	c.(217-219)gaA>gaG	p.E73E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin			35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		AGACCAGGAATTCCTTGAATT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000271835.3	1	1	hg19	CCDS1010.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	1	0	0	26	439	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1.000000	26	435	0	110	2		0	0	0	0	110	2	-20.000000	1	0	121404	1	32	1	2	2	4	2.085565	0	0.190000	3.530000	0.319328	0.700000	0.470000	0.980000	1.000000	0.719105	0.700000	0	0.580000	0.850000
GON4L	54856	broad.mit.edu	37	1	155736404	155736404	+	Silent	SNP	G	G	T	rs143360629	by1000genomes	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:155736404G>T	ENST00000368331.1	-	21	2908	c.2860C>A	c.(2860-2862)Cga>Aga	p.R954R	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.R954R|GON4L_ENST00000361040.5_Silent_p.R954R|GON4L_ENST00000271883.5_Silent_p.R954R	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)			45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)				TCTAGGCTTCGATCTGAGTTG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000368331.1	1	0	hg19																																																																																					TCGA-XN-A8T3-01A-11D-A36O-08	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0	18	431	0	90	0	3.447741e-01	0	29	0	90	2		0	0	0	0	0	2	1	0.999981	18	427	0	91	2		0	0	0	0	90	2	-3.744091	1	1	0	0		1	2	2	4	2.075565	0	0.190000	3.530000	0.319328	0.510000	0.310000	0.760000	0.510000	0.525205	0.510000	0	0.400000	0.640000
PYHIN1	149628	broad.mit.edu	37	1	158908227	158908227	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158908227C>A	ENST00000368140.1	+	3	551	c.306C>A	c.(304-306)atC>atA	p.I102I	PYHIN1_ENST00000392254.2_Silent_p.I102I|PYHIN1_ENST00000392252.3_Silent_p.I93I|PYHIN1_ENST00000368138.3_Silent_p.I93I|PYHIN1_ENST00000368135.4_Silent_p.I102I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1			60	all_hematologic(112;0.0378)				AAGGAATAATCCCATCTAAAA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000368140.1	0	1	hg19	CCDS1178.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	0	0	0	9	488	1	88	0	4.408818e-04	0	2	1	88	2		0	0	0	0	0	2	0	0.039016	8	485	1	87	19		0	0	0	1	88	2	-2.936063	1	1	0	0		1	2	2	4	2.075565	0	0.190000	3.530000	0.319328	0.230000	0.110000	0.410000	0.240000	0.249959	0.230000	0	0.160000	0.330000
SLAMF6	114836	broad.mit.edu	37	1	160458917	160458917	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:160458917C>A	ENST00000368057.3	-	6	900	c.840G>T	c.(838-840)acG>acT	p.T280T	SLAMF6_ENST00000368055.1_Silent_p.T169T|SLAMF6_ENST00000368059.3_Silent_p.T279T			Q96DU3	SLAF6_HUMAN	SLAM family member 6			22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)		CAGTGTTGTTCGTTGGAGACA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000368057.3	1	0	hg19	CCDS53394.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	1	0	0	19	512	0	102	0	1.358139e-02	0	5	0	102	2		0	0	0	0	0	2	1	0.999990	19	509	0	101	2		0	0	0	0	102	2	-2.848300	1	1	0	0		1	2	2	4	2.075565	0	0.190000	3.530000	0.319328	0.450000	0.280000	0.670000	0.440000	0.468156	0.450000	0	0.350000	0.570000
ARHGEF10L	55160	broad.mit.edu	37	1	17958842	17958842	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:17958842G>A	ENST00000361221.3	+	16	1770	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.L245L|ARHGEF10L_ENST00000375415.1_Silent_p.L498L|ARHGEF10L_ENST00000434513.1_Silent_p.L537L|ARHGEF10L_ENST00000375408.3_Silent_p.L315L|ARHGEF10L_ENST00000452522.1_Silent_p.L498L|ARHGEF10L_ENST00000375420.3_Silent_p.L295L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like			43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)			AGCGGCAGCTGCTCCTGTGTG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000361221.3	1	1	hg19	CCDS182.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	1	0	1	86	477	0	128	1	9.927308e-01	5	39	0	128	2		0	0	0	0	0	2	1	1.000000	84	470	0	125	2		0	0	0	0	128	2	-3.222839	1	1	0	0		1	2	2	4	2.117161	1	0.190000	3.530000	0.319328	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
TPR	7175	broad.mit.edu	37	1	186304589	186304589	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:186304589G>T	ENST00000367478.4	-	34	5088	c.4792C>A	c.(4792-4794)Cgc>Agc	p.R1598S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein			123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)			GCAGTAATGCGAACATCCAAT	0.423000			T	NTRK1	papillary thyroid										Dom	yes		1	1q25	7175	translocated promoter region		E	0							SO:0001583	missense			ENST00000367478.4	1	0	hg19	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989888	0.93106	.	.	ENSG00000047410	ENST00000367478	T	0.26518	1.73	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.53585	-0.8418	10	0.36615	T	0.2	.	18.9661	0.92697	0.0:0.0:1.0:0.0	.	1598	P12270	TPR_HUMAN	S	1598	ENSP00000356448:R1598S	ENSP00000356448:R1598S	R	-	1	0	TPR	184571212	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.065000	0.93941	2.545000	0.85829	0.650000	0.86243	CGC		TCGA-XN-A8T3-01A-11D-A36O-08	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	1	0	0	28	714	0	143	0	7.972226e-01	0	78	0	143	2		0	0	0	0	0	2	1	1.000000	28	708	0	142	2		0	0	0	0	143	2	-2.856187	1	1	0	0		1	2	2	4	2.082668	0	0.190000	3.530000	0.319328	0.470000	0.310000	0.660000	0.480000	0.486866	0.470000	0	0.390000	0.570000
ASPM	259266	broad.mit.edu	37	1	197102510	197102510	+	Silent	SNP	G	G	T	rs145489194		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:197102510G>T	ENST00000367409.4	-	6	2645	c.2389C>A	c.(2389-2391)Cga>Aga	p.R797R	ASPM_ENST00000294732.7_Silent_p.R797R|ASPM_ENST00000367408.1_Silent_p.R47R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					CTATCTTTTCGAACAATTAAC	0.348000																								0							SO:0001819	synonymous_variant			ENST00000367409.4	1	0	hg19	CCDS1389.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	0	26	465	0	80	0	1.707018e-02	0	4	0	80	2		0	0	0	0	0	2	1	1.000000	26	461	0	79	2		0	0	0	0	80	2	-3.142371	1	1	0	0		1	2	2	4	2.082668	0	0.190000	3.530000	0.319328	0.660000	0.440000	0.930000	0.670000	0.682340	0.660000	0	0.540000	0.810000
USH2A	7399	broad.mit.edu	37	1	215844624	215844624	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:215844624C>A	ENST00000307340.3	-	64	14209	c.13823G>T	c.(13822-13824)cGa>cTa	p.R4608L	USH2A_ENST00000366943.2_Missense_Mutation_p.R4608L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					CGCTTGAATTCGTATTTCATA	0.418000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	0	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485952	0.63962	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.60920	0.15;0.15	4.94	3.03	0.35002	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.214025	0.23633	N	0.046103	T	0.66157	0.2761	M	0.84326	2.69	0.37088	D	0.899288	P	0.52842	0.956	P	0.53912	0.737	T	0.71377	-0.4611	10	0.59425	D	0.04	.	5.2652	0.15595	0.0:0.5939:0.0:0.4061	.	4608	O75445	USH2A_HUMAN	L	4608	ENSP00000305941:R4608L;ENSP00000355910:R4608L	ENSP00000305941:R4608L	R	-	2	0	USH2A	213911247	0.982000	0.34865	0.193000	0.23327	0.855000	0.48748	2.517000	0.45529	1.202000	0.43218	0.650000	0.86243	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	0	13	297	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	0.999533	13	294	0	49	2		0	0	0	0	49	2	-3.022593	1	1	0	0		1	2	2	4	2.082668	0	0.190000	3.530000	0.319328	0.530000	0.300000	0.850000	0.520000	0.557892	0.530000	0	0.400000	0.700000
RAB3GAP2	25782	broad.mit.edu	37	1	220356177	220356177	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:220356177G>T	ENST00000358951.2	-	20	2211	c.2095C>A	c.(2095-2097)Cga>Aga	p.R699R		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)			39					TCAGAAAATCGAACATTTGTC	0.348000																								0							SO:0001819	synonymous_variant			ENST00000358951.2	1	0	hg19	CCDS31028.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	1	0	0	21	463	0	82	0	6.119469e-02	0	9	0	82	2		0	0	0	0	0	2	1	0.999997	21	457	0	82	2		0	0	0	0	82	2	-3.126318	1	1	0	0		1	2	2	4	2.082668	0	0.190000	3.530000	0.319328	0.550000	0.340000	0.800000	0.550000	0.564511	0.550000	0	0.440000	0.680000
OBSCN	84033	broad.mit.edu	37	1	228432014	228432014	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:228432014G>T	ENST00000422127.1	+	11	3267	c.3223G>T	c.(3223-3225)Gca>Tca	p.A1075S	OBSCN_ENST00000284548.11_Missense_Mutation_p.A1075S|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1167S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			GATGATGTTTGCAAAGGAGCA	0.572000																								0							SO:0001583	missense			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	2.395	-0.338872	0.05243	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04551	3.6;3.6	3.69	2.78	0.32641	Immunoglobulin-like (1);	0.317255	0.27060	N	0.021125	T	0.04363	0.0120	L	0.39147	1.195	0.80722	D	1	P;B	0.37985	0.613;0.169	B;B	0.41466	0.358;0.049	T	0.40664	-0.9551	10	0.06891	T	0.86	.	6.4866	0.22093	0.3275:0.0:0.6725:0.0	.	1075;1075	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	1075	ENSP00000284548:A1075S;ENSP00000409493:A1075S	ENSP00000284548:A1075S	A	+	1	0	OBSCN	226498637	0.000000	0.05858	0.991000	0.47740	0.025000	0.11179	-0.621000	0.05559	0.757000	0.33036	0.455000	0.32223	GCA		TCGA-XN-A8T3-01A-11D-A36O-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	44	442	0	115	0	0	0	1	0	115	2		0	0	0	0	0	2	1	1.000000	33	392	0	99	2		0	0	0	0	115	2	-13.593880	1	1	0	0		1	2	2	4	2.082668	0	0.190000	3.530000	0.319328	0.990000	0.840000	1.000000	1.000000	0.985728	0.990000	1	0.980000	1.000000
EGLN1	54583	broad.mit.edu	37	1	231506425	231506425	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:231506425C>A	ENST00000366641.3	-	3	4186	c.1031G>T	c.(1030-1032)cGa>cTa	p.R344L	EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1	p.R344Q(1)		16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			TGGAAAAATTCGAAGTATACC	0.393000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000366641.3	1	0	hg19	CCDS1595.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219054	0.95104	.	.	ENSG00000135766	ENST00000366641	T	0.59083	0.29	5.73	5.73	0.89815	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	M	0.86178	2.8	0.80722	D	1	D	0.69078	0.997	D	0.69824	0.966	T	0.79688	-0.1699	10	0.46703	T	0.11	-4.6704	19.9155	0.97058	0.0:1.0:0.0:0.0	.	344	Q9GZT9	EGLN1_HUMAN	L	344	ENSP00000355601:R344L	ENSP00000355601:R344L	R	-	2	0	EGLN1	229573048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.008000	0.70739	2.699000	0.92147	0.650000	0.86243	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	1	0	0	17	373	0	82	0	8.488680e-01	0	77	0	82	2		0	0	0	0	0	2	1	0.999964	17	369	0	81	2		0	0	0	0	82	2	-3.128328	1	1	0	0		1	2	2	4	2.082668	0	0.190000	3.530000	0.319328	0.550000	0.330000	0.830000	0.550000	0.571900	0.550000	0	0.430000	0.700000
KMO	8564	broad.mit.edu	37	1	241714324	241714324	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:241714324C>A	ENST00000366559.4	+	4	603	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.P98T|KMO_ENST00000366557.4_Missense_Mutation_p.P98T	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)			33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)		GTCTGCAATTCCCTATGGGAC	0.413000																								0							SO:0001583	missense			ENST00000366559.4	0	1	hg19	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580937	0.65992	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.49432	0.78;0.78;0.78	6.17	6.17	0.99709	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.87456	2.885	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.981;0.981;0.977	T	0.72312	-0.4331	10	0.40728	T	0.16	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	98;98;98	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	T	98	ENSP00000355517:P98T;ENSP00000355516:P98T;ENSP00000355515:P98T	ENSP00000355515:P98T	P	+	1	0	KMO	239780947	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	2.444000	0.44890	2.941000	0.99782	0.655000	0.94253	CCC		TCGA-XN-A8T3-01A-11D-A36O-08	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	0	0	0	11	676	0	146	0	0	0	1	0	146	2		0	0	0	0	0	2	1	0.998220	11	667	0	145	2		0	0	0	0	146	2	-2.927144	1	1	0	0		1	2	2	4	2.082668	0	0.190000	3.530000	0.319328	0.200000	0.100000	0.350000	0.200000	0.217494	0.200000	0	0.140000	0.280000
OR2M2	391194	broad.mit.edu	37	1	248344093	248344093	+	Missense_Mutation	SNP	C	C	T	rs149761766		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248344093C>T	ENST00000359682.2	+	1	806	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2			70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)		CACTCCCCAACGCAGGACAAG	0.502000																								0							SO:0001583	missense			ENST00000359682.2	1	1	hg19	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	1.263	-0.615211	0.03663	0.0	1.16E-4	ENSG00000198601	ENST00000359682	T	0.00123	8.7	2.03	-4.06	0.03986	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.70275	2.135	0.09310	N	1	B	0.28439	0.212	B	0.29598	0.104	T	0.38178	-0.9673	9	0.51188	T	0.08	.	10.6476	0.45630	0.2235:0.6609:0.0:0.1157	.	269	Q96R28	OR2M2_HUMAN	M	269	ENSP00000352710:T269M	ENSP00000352710:T269M	T	+	2	0	OR2M2	246410716	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.426000	0.00036	-3.968000	0.00086	-3.185000	0.00055	ACG		TCGA-XN-A8T3-01A-11D-A36O-08	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	1	0	1	167	801	0	246		0	0	0	0	246	2		0	0	0	0	0	2	1	1.000000	165	786	0	249	2		0	0	0	0	246	2	-20.000000	1	1	121412	1	41	1	2	2	4	2.082668	0	0.190000	3.530000	0.319328	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
OR2T4	127074	broad.mit.edu	37	1	248524891	248524891	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248524891C>T	ENST00000366475.1	+	1	9	c.9C>T	c.(7-9)aaC>aaT	p.N3N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4			56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)		TCATGGACAACATCACCTGGA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000366475.1	1	1	hg19	CCDS31113.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	1	0	1	42	293	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1.000000	41	283	0	60	2		0	0	0	0	67	2	-3.318880	1	1	0	0		1	2	2	4	2.082668	0	0.190000	3.530000	0.319328	0.990000	0.990000	1.000000	1.000000	0.999911	0.990000	1	0.990000	1.000000
ZMYM4	9202	broad.mit.edu	37	1	35859318	35859318	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:35859318C>A	ENST00000314607.6	+	18	2969	c.2889C>A	c.(2887-2889)acC>acA	p.T963T	ZMYM4_ENST00000373297.2_Silent_p.T874T	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4			54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			AACCACATACCCAAAACAAAG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000314607.6	0	1	hg19	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	9.029	0.986755	0.18889	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.18	-1.85	0.07784	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32134	-0.9918	4	.	.	.	-0.0487	1.9559	0.03376	0.4888:0.1835:0.1729:0.1547	.	.	.	.	T	623	.	.	P	+	1	0	ZMYM4	35631905	0.666000	0.27475	0.994000	0.49952	0.990000	0.78478	-0.302000	0.08221	0.016000	0.14998	0.585000	0.79938	CCA		TCGA-XN-A8T3-01A-11D-A36O-08	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	0	0	0	11	665	0	98	1	2.611405e-01	2	54	0	98	2		0	0	0	0	0	2	1	0.998233	11	657	0	95	2		0	0	0	0	98	2	-2.619821	1	1	0	0		1	2	2	4	2.117161	1	0.190000	3.530000	0.319328	0.200000	0.100000	0.350000	0.200000	0.221011	0.200000	0	0.150000	0.280000
RLF	6018	broad.mit.edu	37	1	40668129	40668129	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:40668129G>T	ENST00000372771.4	+	5	680	c.653G>T	c.(652-654)cGa>cTa	p.R218L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion			68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		CTGCAAATGCGAATAAAACAT	0.333000																								0							SO:0001583	missense			ENST00000372771.4	1	0	hg19	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438077	0.83885	.	.	ENSG00000117000	ENST00000372771	T	0.52754	0.65	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.79258	2.445	0.53688	D	0.999978	D	0.76494	0.999	D	0.81914	0.995	T	0.75328	-0.3356	10	0.87932	D	0	-7.763	18.5314	0.90993	0.0:0.0:1.0:0.0	.	218	Q13129	RLF_HUMAN	L	218	ENSP00000361857:R218L	ENSP00000361857:R218L	R	+	2	0	RLF	40440716	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.076000	0.76806	2.462000	0.83206	0.313000	0.20887	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	1	0	0	22	481	0	57	0	1.179004e-01	0	13	0	57	2		0	0	0	0	0	2	1	0.999999	20	477	0	55	2		0	0	0	0	57	2	-4.197773	1	1	0	0		1	2	2	4	2.117161	1	0.190000	3.530000	0.319328	0.550000	0.350000	0.800000	0.560000	0.568066	0.550000	0	0.440000	0.680000
CCDC30	728621	broad.mit.edu	37	1	43047064	43047064	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:43047064C>A	ENST00000340612.4	+	7	1099	c.1099C>A	c.(1099-1101)Cat>Aat	p.H367N	CCDC30_ENST00000342022.4_Missense_Mutation_p.H367N|CCDC30_ENST00000507855.1_Missense_Mutation_p.H156N|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156N|CCDC30_ENST00000428554.2_Missense_Mutation_p.H367N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30			30					AGAACATGCTCATAAAGTCTG	0.348000																								0							SO:0001583	missense			ENST00000340612.4	0	1	hg19	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701346	0.30142	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.65	1.32	0.21799	.	0.550040	0.19977	N	0.101853	T	0.32194	0.0821	L	0.38838	1.175	0.09310	N	1	B;B;B	0.22003	0.002;0.0;0.063	B;B;B	0.15870	0.001;0.001;0.014	T	0.16070	-1.0415	10	0.24483	T	0.36	.	8.5805	0.33626	0.3756:0.5512:0.0:0.0732	.	367;151;156	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	N	367;156;367;367;156	ENSP00000397035:H367N;ENSP00000426711:H156N;ENSP00000340378:H367N;ENSP00000339280:H367N;ENSP00000375051:H156N	ENSP00000340378:H367N	H	+	1	0	CCDC30	42819651	0.497000	0.26067	0.064000	0.19789	0.955000	0.61496	0.970000	0.29383	0.377000	0.24735	0.650000	0.86243	CAT		TCGA-XN-A8T3-01A-11D-A36O-08	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	0	0	0	14	684	0	121	0	9.473108e-03	0	7	0	121	2		0	0	0	0	0	2	1	0.999734	15	675	0	121	2		0	0	0	0	121	2	-2.527275	1	1	0	0		1	2	2	4	2.117161	1	0.190000	3.530000	0.319328	0.250000	0.140000	0.410000	0.240000	0.267608	0.250000	0	0.190000	0.330000
LRRC7	57554	broad.mit.edu	37	1	70446077	70446077	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:70446077C>A	ENST00000035383.5	+	7	643	c.613C>A	c.(613-615)Caa>Aaa	p.Q205K	LRRC7_ENST00000310961.5_Missense_Mutation_p.Q210K|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	p.Q205K(1)		162					AGTTCTGGATCAAATACAAAA	0.328000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000035383.5	0	1	hg19	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679363	0.68042	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.23950	1.88;1.9	5.25	5.25	0.73442	.	0.059688	0.64402	D	0.000002	T	0.11153	0.0272	N	0.13168	0.305	0.80722	D	1	P	0.40197	0.706	B	0.43623	0.425	T	0.11299	-1.0593	10	0.25751	T	0.34	.	16.3726	0.83370	0.0:1.0:0.0:0.0	.	205	Q96NW7	LRRC7_HUMAN	K	210;205;28	ENSP00000309245:Q210K;ENSP00000035383:Q205K	ENSP00000035383:Q205K	Q	+	1	0	LRRC7	70218665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.238000	0.78173	2.608000	0.88229	0.650000	0.86243	CAA		TCGA-XN-A8T3-01A-11D-A36O-08	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	0	0	0	22	939	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	0.999998	23	921	0	137	2		0	0	0	0	138	2	-2.693470	1	1	0	0		1	2	2	4	2.117161	1	0.190000	3.530000	0.319328	0.280000	0.170000	0.420000	0.280000	0.298518	0.280000	0	0.230000	0.360000
ZZZ3	26009	broad.mit.edu	37	1	78047706	78047706	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:78047706G>T	ENST00000370801.3	-	7	2225	c.1750C>A	c.(1750-1752)Cgt>Agt	p.R584S	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.R90S	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3			39					TGTCTTTTACGATTTTTAAAT	0.323000																								0							SO:0001583	missense			ENST00000370801.3	1	0	hg19	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886661	0.51908	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.33	4.41	0.53225	.	0.132552	0.51477	D	0.000085	T	0.32734	0.0839	L	0.40543	1.245	0.48901	D	0.999723	B;P;P	0.44877	0.369;0.845;0.841	B;B;B	0.44108	0.197;0.256;0.441	T	0.08126	-1.0737	9	0.25106	T	0.35	.	14.2206	0.65823	0.0726:0.0:0.9274:0.0	.	90;584;584	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	S	584;90	.	ENSP00000359834:R90S	R	-	1	0	ZZZ3	77820294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.551000	0.67274	1.373000	0.46208	0.655000	0.94253	CGT		TCGA-XN-A8T3-01A-11D-A36O-08	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	1	0	0	24	531	0	92	0	3.241572e-01	0	26	0	92	2		0	0	0	0	0	2	1	1.000000	24	522	0	92	2		0	0	0	0	92	2	-2.768866	1	1	0	0		1	2	2	4	2.117161	1	0.190000	3.530000	0.319328	0.540000	0.350000	0.780000	0.530000	0.560062	0.540000	0	0.440000	0.670000
VAMP3	9341	broad.mit.edu	37	1	7837333	7837333	+	Silent	SNP	G	G	T	rs114336504	by1000genomes	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:7837333G>T	ENST00000054666.6	+	3	301	c.186G>T	c.(184-186)acG>acT	p.T62T	VAMP3_ENST00000470357.1_Silent_p.T34T|RP3-467L1.6_ENST00000602406.1_RNA	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3			6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)			AATTTGAAACGAGCGCAGCCA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000054666.6	1	0	hg19	CCDS88.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	1	0	0	14	401	0	90	0	9.171974e-01	1	125	0	90	2		0	0	0	0	0	2	1	0.999752	14	398	0	90	2		0	0	0	0	90	2	-3.455922	1	1	0	0		1	3	3	6	2.138687	1	0.190000	3.530000	0.340391	0.490000	0.260000	1.000000	0.440000	0.587646	0.490000	0	0.350000	1.000000
WDR63	126820	broad.mit.edu	37	1	85595745	85595745	+	Missense_Mutation	SNP	C	C	A	rs143304188		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:85595745C>A	ENST00000294664.6	+	22	2662	c.2482C>A	c.(2482-2484)Cgt>Agt	p.R828S	WDR63_ENST00000326813.8_Missense_Mutation_p.R789S|WDR63_ENST00000370596.1_Missense_Mutation_p.R789S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63			36					CAAAAAAATTCGTGAGCAAGA	0.368000																								0							SO:0001583	missense			ENST00000294664.6	1	0	hg19	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313546	0.40996	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.43	4.48	0.54585	.	0.207201	0.42053	D	0.000774	T	0.59169	0.2174	M	0.85041	2.73	0.39974	D	0.974832	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.954	T	0.62129	-0.6919	10	0.44086	T	0.13	-16.1661	13.8453	0.63463	0.2776:0.7224:0.0:0.0	.	789;828	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	S	789;789;828;110	ENSP00000359628:R789S;ENSP00000317463:R789S;ENSP00000294664:R828S;ENSP00000435544:R110S	ENSP00000294664:R828S	R	+	1	0	WDR63	85368333	0.974000	0.33945	0.995000	0.50966	0.030000	0.12068	1.142000	0.31540	2.546000	0.85860	0.655000	0.94253	CGT		TCGA-XN-A8T3-01A-11D-A36O-08	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	1	0	0	26	582	0	122	0	2.015162e-03	0	2	0	122	2		0	0	0	0	0	2	1	1.000000	26	578	0	122	2		0	0	0	0	122	2	-3.760306	1	1	121412	1	38	1	2	2	4	2.091950	0	0.190000	3.530000	0.319328	0.540000	0.350000	0.760000	0.520000	0.552507	0.540000	0	0.440000	0.650000
ABCA4	24	broad.mit.edu	37	1	94466426	94466426	+	Nonsense_Mutation	SNP	G	G	A	rs140142529		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:94466426G>A	ENST00000370225.3	-	47	6531	c.6445C>T	c.(6445-6447)Cga>Tga	p.R2149*	ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R268*|ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R419*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4			147		all_lung(203;0.000757)|Lung NSC(277;0.00335)			CCCATACATCGAAAGGCGCCC	0.562000																								0		GRCh37	CM990078	ABCA4	M	rs140142529	SO:0001587	stop_gained			ENST00000370225.3	0	1	hg19	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	38	6.739809	0.97801	0.0	1.16E-4	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	.	.	.	5.84	5.84	0.93424	.	0.166997	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0922	0.59172	0.0:0.0:0.7351:0.2649	rs61750654	.	.	.	X	941;2149;419;268	.	ENSP00000359245:R2149X	R	-	1	2	ABCA4	94239014	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.696000	0.68287	2.779000	0.95612	0.655000	0.94253	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	1	0	1	48	326	0	72	1	8.518733e-02	2	2	0	72	2		0	0	0	0	0	2	1	1.000000	47	324	0	72	2		0	0	0	0	72	2	-19.610750	1	1	121412	2	37	1	2	2	4	2.091950	0	0.190000	3.530000	0.319328	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	0.990000	1.000000
SALL4	57167	broad.mit.edu	37	20	50401200	50401200	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:50401200C>A	ENST00000217086.4	-	4	2877	c.2766G>T	c.(2764-2766)gcG>gcT	p.A922A	SALL4_ENST00000395997.3_Silent_p.A485A|SALL4_ENST00000371539.3_Silent_p.A145A	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4			63					AGTTATTGTTCGCCCCGTGTG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000217086.4	1	0	hg19	CCDS13438.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3	1	0	0	16	369	0	87	0	1.402038e-01	0	14	0	87	2		0	0	0	0	0	2	1	0.999925	16	362	0	86	2		0	0	0	0	87	2	-2.930996	1	1	0	0		1	1	2	3	1.915087	0	0.190000	3.530000	0.260274	0.480000	0.280000	0.740000	0.480000	0.502579	0.480000	0	0.370000	0.620000
DSCAM	1826	broad.mit.edu	37	21	41423897	41423897	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr21:41423897G>T	ENST00000400454.1	-	30	5650	c.5173C>A	c.(5173-5175)Cgg>Agg	p.R1725R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule			142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)			GTTCCCGGCCGAGCGTCTGAA	0.483000													Melanoma(134;970 1778 1785 21664 32388)											0							SO:0001819	synonymous_variant			ENST00000400454.1	1	0	hg19	CCDS42929.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	0	20	487	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	0.999995	19	480	0	133	2		0	0	0	0	133	2	-2.737967	1	1	0	0		1	0	2	2	1.761989	1	0.190000	3.530000	0.190000	0.410000	0.260000	0.610000	0.410000	0.430632	0.410000	0	0.330000	0.520000
TUBA8	51807	broad.mit.edu	37	22	18606952	18606952	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:18606952C>T	ENST00000330423.3	+	3	329	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	TUBA8_ENST00000316027.6_Missense_Mutation_p.L20F	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8			14					CTACCGCCAGCTCTTCCATCC	0.582000																								0							SO:0001583	missense			ENST00000330423.3	1	1	hg19	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565399	0.65651	.	.	ENSG00000183785	ENST00000426208;ENST00000316027;ENST00000330423;ENST00000416740	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.11	5.11	0.69529	Tubulin/FtsZ, GTPase domain (4);	0.065611	0.64402	N	0.000012	D	0.88599	0.6480	H	0.95224	3.64	0.54753	D	0.999981	P;D;P	0.76494	0.767;0.999;0.767	B;D;B	0.67103	0.356;0.949;0.36	D	0.91998	0.5608	10	0.87932	D	0	.	17.8832	0.88846	0.0:1.0:0.0:0.0	.	110;86;85	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	F	20;20;86;110	ENSP00000407624:L20F;ENSP00000318575:L20F;ENSP00000333326:L86F;ENSP00000412646:L110F	ENSP00000318575:L20F	L	+	1	0	TUBA8	16986952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.554000	0.86153	0.462000	0.41574	CTC		TCGA-XN-A8T3-01A-11D-A36O-08	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	1	0	0	15	161	0	45	1	3.601247e-01	2	12	0	45	2		0	0	0	0	0	2	1	0.999875	15	156	0	45	2		0	0	0	0	45	2	-3.318846	1	1	0	0		1	1	2	3	1.942683	0	0.190000	3.530000	0.260274	0.990000	0.590000	1.000000	1.000000	0.913576	0.990000	1	0.770000	1.000000
SNAP29	9342	broad.mit.edu	37	22	21242113	21242113	+	Silent	SNP	C	C	A	rs148156702		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:21242113C>A	ENST00000215730.7	+	5	894	c.766C>A	c.(766-768)Cga>Aga	p.R256R	AC007308.7_ENST00000608856.1_RNA	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	p.R256*(2)		9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		AAGAAAAGTTCGACAACTCTG	0.353000																								2	Substitution - Nonsense(2)						SO:0001819	synonymous_variant			ENST00000215730.7	1	0	hg19	CCDS13784.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	1	0	0	16	316	0	56	0	9.185550e-01	0	88	0	56	2		0	0	0	0	0	2	1	0.999928	16	310	0	56	2		0	0	0	0	56	2	-3.139115	1	1	0	0		1	1	2	3	1.942683	0	0.190000	3.530000	0.260274	0.560000	0.330000	0.850000	0.540000	0.581392	0.560000	0	0.430000	0.710000
CCDC157	550631	broad.mit.edu	37	22	30766541	30766541	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:30766541C>T	ENST00000405659.1	+	5	1356	c.647C>T	c.(646-648)aCg>aTg	p.T216M	CCDC157_ENST00000338306.3_Missense_Mutation_p.T216M			Q569K6	CC157_HUMAN	coiled-coil domain containing 157			15					ACCATTGAGACGGCCCTGGTG	0.622000																								0							SO:0001583	missense			ENST00000405659.1	1	1	hg19	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961385	0.92791	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.32515	1.45;1.45	5.54	5.54	0.83059	.	0.129526	0.53938	D	0.000060	T	0.55273	0.1910	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.54490	-0.8286	10	0.87932	D	0	-22.7807	19.2866	0.94077	0.0:1.0:0.0:0.0	.	216	Q569K6	CC157_HUMAN	M	216	ENSP00000385357:T216M;ENSP00000343087:T216M	ENSP00000343087:T216M	T	+	2	0	CCDC157	29096541	1.000000	0.71417	0.959000	0.39883	0.856000	0.48823	7.005000	0.76323	2.884000	0.98904	0.655000	0.94253	ACG		TCGA-XN-A8T3-01A-11D-A36O-08	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	1	0	0	27	245	0	72	0	0	0	1	0	72	2		0	0	0	0	0	2	1	0.987529	27	242	1	70	14		0	0	0	0	72	2	-8.628704	1	1	121412	6	40	1	1	2	3	1.942683	0	0.190000	3.530000	0.260274	0.990000	0.780000	1.000000	1.000000	0.977408	0.990000	1	0.950000	1.000000
CSF2RB	1439	broad.mit.edu	37	22	37333569	37333569	+	Silent	SNP	G	G	A	rs140662059		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:37333569G>A	ENST00000403662.3	+	14	1941	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	CSF2RB_ENST00000262825.5_Silent_p.P579P|CSF2RB_ENST00000536485.1_Silent_p.P520P|CSF2RB_ENST00000406230.1_Silent_p.P579P			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)			42				Sargramostim(DB00020)	AGCCAGGCCCGCCTGCCGCCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000403662.3	1	1	hg19	CCDS13936.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	0	0	1	16	100	0	34	0	5.847458e-02	0	3	0	34	2		0	0	0	0	0	2	1	0.999920	16	92	0	28	2		0	0	0	0	34	2	-20.000000	1	1	121378	4	33	1	1	2	3	1.942683	0	0.190000	3.530000	0.260274	0.990000	0.970000	1.000000	1.000000	0.997053	0.990000	1	0.990000	1.000000
CYB5R3	1727	broad.mit.edu	37	22	43026970	43026970	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:43026970C>A	ENST00000352397.5	-	4	503	c.251G>T	c.(250-252)cGa>cTa	p.R84L	CYB5R3_ENST00000407623.3_Missense_Mutation_p.R61L|CYB5R3_ENST00000361740.4_Missense_Mutation_p.R117L|CYB5R3_ENST00000402438.1_Missense_Mutation_p.R61L|CYB5R3_ENST00000396303.3_Missense_Mutation_p.R61L|CYB5R3_ENST00000407332.1_Missense_Mutation_p.R61L	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3			6				Flavin adenine dinucleotide(DB03147)	TCCATCAATTCGAGCCGAGAG	0.587000																								0							SO:0001583	missense			ENST00000352397.5	1	0	hg19	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818274	0.32145	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	3.73	0.507	0.16967	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.257317	0.35495	N	0.003177	T	0.81508	0.4837	M	0.73962	2.25	0.09310	N	0.999999	P;B	0.35493	0.505;0.013	B;B	0.34138	0.176;0.01	T	0.73553	-0.3946	10	0.62326	D	0.03	-6.1245	8.6969	0.34301	0.0:0.7335:0.0:0.2665	.	117;84	B7Z7L3;P00387	.;NB5R3_HUMAN	L	117;61;84;61;61;61;61	ENSP00000354468:R117L;ENSP00000379597:R61L;ENSP00000338461:R84L;ENSP00000384834:R61L;ENSP00000384457:R61L;ENSP00000385679:R61L;ENSP00000403439:R61L	ENSP00000338461:R84L	R	-	2	0	CYB5R3	41356914	0.739000	0.28196	0.001000	0.08648	0.613000	0.37349	2.646000	0.46630	0.202000	0.20498	-0.362000	0.07510	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1	1	0	0	12	245	0	63	0	9.999998e-01	0	759	0	63	2		0	0	0	0	0	2	1	0.999074	12	240	0	62	2		0	0	0	0	63	2	-2.933916	1	1	0	0		1	1	2	3	1.942683	0	0.190000	3.530000	0.260274	0.550000	0.300000	0.880000	0.540000	0.571528	0.550000	0	0.410000	0.720000
WNT7B	7477	broad.mit.edu	37	22	46327040	46327040	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:46327040G>T	ENST00000339464.4	-	3	882	c.508C>A	c.(508-510)Cgg>Agg	p.R170R	WNT7B_ENST00000410089.1_Silent_p.R154R|WNT7B_ENST00000410058.1_Silent_p.R170R|WNT7B_ENST00000409496.3_Silent_p.R174R	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B			19		Ovarian(80;0.00965)|all_neural(38;0.0416)			TTGATCTCCCGAGCGTCCACG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000339464.4	1	0	hg19	CCDS33667.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	1	0	0	20	234	0	57	0	3.777756e-01	0	16	0	57	2		0	0	0	0	0	2	1	0.999996	20	232	0	55	2		0	0	0	0	57	2	-2.966627	1	1	121324	2	34	1	1	2	3	1.942683	0	0.190000	3.530000	0.260274	0.910000	0.580000	1.000000	1.000000	0.883986	0.910000	1	0.730000	1.000000
SPOPL	339745	broad.mit.edu	37	2	139326586	139326586	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:139326586G>T	ENST00000280098.4	+	11	1494	c.1115G>T	c.(1114-1116)cGa>cTa	p.R372L	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like			21					GAAGCCTTTCGAGCACTAGCA	0.423000																								0							SO:0001583	missense			ENST00000280098.4	0	1	hg19	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933375	0.92458	.	.	ENSG00000144228	ENST00000280098	T	0.71461	-0.57	5.97	5.97	0.96955	.	0.058159	0.64402	D	0.000001	T	0.79953	0.4535	L	0.58810	1.83	0.80722	D	1	D	0.58268	0.982	P	0.57057	0.812	T	0.76812	-0.2821	9	.	.	.	-11.9914	20.428	0.99075	0.0:0.0:1.0:0.0	.	372	Q6IQ16	SPOPL_HUMAN	L	372	ENSP00000280098:R372L	.	R	+	2	0	SPOPL	139043056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1	0	0	0	28	1379	0	273	0	8.744944e-02	0	24	0	273	2		0	0	0	0	0	2	1	1.000000	28	1360	0	269	2		0	0	0	0	273	2	-1.876711	0	1	0	0		1	2	2	4	2.042778	0	0.190000	3.530000	0.310521	0.250000	0.160000	1.000000	0.240000	0.302109	0.250000	0	0.200000	0.320000
MYCN	4613	broad.mit.edu	37	2	16086208	16086208	+	Silent	SNP	C	C	A	rs144531796	by1000genomes	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:16086208C>A	ENST00000281043.3	+	3	1681	c.1384C>A	c.(1384-1386)Cgg>Agg	p.R462R		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog			31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)		TGAACACGCTCGGACTTGCTA	0.428000			A		neuroblastoma										Dom	yes		2	2p24.1	4613	v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)		O	0							SO:0001819	synonymous_variant			ENST00000281043.3	1	0	hg19	CCDS1687.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	1	0	0	30	471	0	109	0	1.118422e-02	0	3	0	109	2		0	0	0	0	0	2	1	1.000000	29	463	0	109	2		0	0	0	0	109	2	-2.522905	1	1	121406	6	42	1	2	2	4	2.081774	0	0.190000	3.530000	0.319328	0.750000	0.520000	1.000000	1.000000	0.765249	0.750000	0	0.620000	0.900000
TTN	7273	broad.mit.edu	37	2	179583118	179583118	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:179583118C>T	ENST00000591111.1	-	83	23988	c.23764G>A	c.(23764-23766)Gca>Aca	p.A7922T	TTN_ENST00000342992.6_Missense_Mutation_p.A6995T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A8239T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CTGTACTGTGCATAATCCTCT	0.398000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.74	2.626923	0.46840	.	.	ENSG00000155657	ENST00000342992	T	0.45276	0.9	6.16	6.16	0.99307	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55433	0.1920	M	0.79926	2.475	0.80722	D	1	B	0.31459	0.324	B	0.36418	0.224	T	0.56823	-0.7915	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	7922	Q8WZ42	TITIN_HUMAN	T	6995	ENSP00000343764:A6995T	ENSP00000343764:A6995T	A	-	1	0	TTN	179291363	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.607000	0.61133	2.937000	0.99478	0.650000	0.86243	GCA		TCGA-XN-A8T3-01A-11D-A36O-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	45	273	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1.000000	45	270	0	43	2		0	0	0	0	44	2	-19.921240	1	1	0	0		1	2	2	4	2.042778	0	0.190000	3.530000	0.310521	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	0.990000	1.000000
STAT1	6772	broad.mit.edu	37	2	191847210	191847210	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:191847210C>T	ENST00000361099.3	-	18	1868	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	STAT1_ENST00000392322.3_Missense_Mutation_p.R494Q|STAT1_ENST00000409465.1_Missense_Mutation_p.R494Q|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.R496Q	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa			39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		CTGAGCCCATCGTGCACATGG	0.463000																								0							SO:0001583	missense			ENST00000361099.3	1	1	hg19	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112096	0.37242	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.31	3.15	0.36227	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.310219	0.34932	N	0.003580	T	0.61986	0.2391	L	0.31664	0.95	0.18873	N	0.999986	B;B	0.20780	0.048;0.005	B;B	0.17098	0.016;0.017	T	0.41945	-0.9480	10	0.12766	T	0.61	-3.6255	10.1437	0.42751	0.0:0.7608:0.0:0.2392	.	494;494	P42224-2;P42224	.;STAT1_HUMAN	Q	494;494;494;496	ENSP00000354394:R494Q;ENSP00000386244:R494Q;ENSP00000376136:R494Q;ENSP00000376137:R496Q	ENSP00000354394:R494Q	R	-	2	0	STAT1	191555455	0.002000	0.14202	0.932000	0.37286	0.981000	0.71138	0.290000	0.18975	1.304000	0.44892	0.655000	0.94253	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	1	0	0	44	465	0	92	1	9.999954e-01	9	183	0	92	2		0	0	0	0	0	2	1	1.000000	44	459	0	92	2		0	0	0	0	92	2	-12.316120	1	1	0	0		1	2	2	4	2.042778	0	0.190000	3.530000	0.310521	0.990000	0.790000	1.000000	1.000000	0.974466	0.990000	1	0.930000	1.000000
ALS2CR11	151254	broad.mit.edu	37	2	202466489	202466489	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:202466489G>T	ENST00000286195.3	-	4	533	c.489C>A	c.(487-489)ttC>ttA	p.F163L	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.F163L|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.F163L|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.F163L	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	p.F163F(2)		33					TCACTTCATCGAACTTAATTA	0.313000																								2	Substitution - coding silent(2)						SO:0001583	missense			ENST00000286195.3	1	0	hg19	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090430	0.55968	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23	5.02	2.58	0.30949	.	0.263401	0.27406	N	0.019510	D	0.96981	0.9014	L	0.55481	1.735	0.29814	N	0.831439	D;B;P	0.89917	1.0;0.389;0.818	D;B;B	0.87578	0.998;0.081;0.186	D	0.92906	0.6343	10	0.42905	T	0.14	.	6.5355	0.22350	0.8033:0.0:0.1967:0.0	.	163;163;163	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	L	163	ENSP00000286195:F163L;ENSP00000400672:F163L;ENSP00000409937:F163L;ENSP00000399016:F163L	ENSP00000286195:F163L	F	-	3	2	ALS2CR11	202174734	0.997000	0.39634	0.927000	0.36925	0.768000	0.43524	1.854000	0.39368	0.374000	0.24650	-0.474000	0.04947	TTC		TCGA-XN-A8T3-01A-11D-A36O-08	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	1	0	0	16	333	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	0.999925	16	325	0	54	2		0	0	0	0	54	2	-4.747922	1	1	0	0		1	2	2	4	2.042778	0	0.190000	3.530000	0.310521	0.590000	0.340000	1.000000	0.570000	0.620800	0.590000	0	0.450000	0.780000
MPP4	58538	broad.mit.edu	37	2	202512489	202512489	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:202512489C>A	ENST00000409474.3	-	21	1851	c.1644G>T	c.(1642-1644)tcG>tcT	p.S548S	MPP4_ENST00000359962.5_Silent_p.S548S|MPP4_ENST00000315506.7_Silent_p.S504S|MPP4_ENST00000428900.2_Silent_p.S524S|RNU6-651P_ENST00000411040.1_RNA|MPP4_ENST00000447335.2_Silent_p.S541S|MPP4_ENST00000409143.1_Silent_p.S490S|MPP4_ENST00000396886.3_Silent_p.S473S	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)			12					ACCTCATATTCGATGGCTTTA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000409474.3	1	0	hg19	CCDS46491.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2	1	0	0	12	224	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	0.999097	12	220	0	41	2		0	0	0	0	41	2	-3.283854	1	1	0	0		1	2	2	4	2.042778	0	0.190000	3.530000	0.310521	0.660000	0.350000	1.000000	1.000000	0.686171	0.660000	0	0.490000	0.910000
CYP20A1	57404	broad.mit.edu	37	2	204154519	204154519	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:204154519C>A	ENST00000356079.4	+	10	1126	c.1003C>A	c.(1003-1005)Cga>Aga	p.R335R	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Silent_p.R343R	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1			11					TGAAACTGTTCGAACTGCCAA	0.323000																								0							SO:0001819	synonymous_variant			ENST00000356079.4	1	0	hg19	CCDS2357.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	1	0	0	21	509	0	62	0	3.663424e-01	0	31	0	62	2		0	0	0	0	0	2	1	0.999997	21	498	0	61	2		0	0	0	0	62	2	-2.847844	1	1	0	0		1	2	2	4	2.042778	0	0.190000	3.530000	0.310521	0.500000	0.310000	1.000000	0.500000	0.540820	0.500000	0	0.400000	0.650000
SENP7	57337	broad.mit.edu	37	3	101044840	101044840	+	Silent	SNP	G	G	T	rs144603399		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:101044840G>T	ENST00000394095.2	-	24	3153	c.3100C>A	c.(3100-3102)Cga>Aga	p.R1034R	SENP7_ENST00000348610.3_Silent_p.R1001R|SENP7_ENST00000358203.3_Silent_p.R870R|SENP7_ENST00000314261.7_Silent_p.R968R|SENP7_ENST00000394094.2_Silent_p.R969R|SENP7_ENST00000394091.1_Silent_p.R870R|SENP7_ENST00000394085.3_Silent_p.R222R	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7			44					ATGAGCTCTCGAATATCTTCC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000394095.2	1	0	hg19	CCDS2941.2																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	1	0	0	18	476	0	93	0	3.324091e-01	0	31	0	93	2		0	0	0	0	0	2	1	0.999979	18	466	0	93	2		0	0	0	0	93	2	-3.193771	1	1	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.460000	0.280000	0.690000	0.440000	0.477780	0.460000	0	0.360000	0.580000
MRPL3	11222	broad.mit.edu	37	3	131219286	131219286	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:131219286G>T	ENST00000264995.3	-	3	504	c.357C>A	c.(355-357)gtC>gtA	p.V119V	MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Silent_p.V146V	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3			10					GAAGTAATGTGACCACATGCT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000264995.3	0	1	hg19	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061285	0.07317	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.62	4.73	0.59995	.	.	.	.	.	T	0.71099	0.3300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70498	-0.4855	4	.	.	.	-2.7541	15.3528	0.74402	0.0:0.1405:0.8595:0.0	.	.	.	.	N	134	.	.	H	-	1	0	MRPL3	132701976	1.000000	0.71417	0.999000	0.59377	0.354000	0.29330	4.626000	0.61269	1.340000	0.45581	0.555000	0.69702	CAC		TCGA-XN-A8T3-01A-11D-A36O-08	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	0	0	0	21	918	0	166	0	6.651004e-01	0	100	0	166	2		0	0	0	0	0	2	1	0.999997	20	910	0	165	2		0	0	0	0	166	2	-3.186564	1	1	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.280000	0.170000	0.420000	0.280000	0.292199	0.280000	0	0.220000	0.350000
EPHB1	2047	broad.mit.edu	37	3	134873104	134873104	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:134873104C>A	ENST00000398015.3	+	6	1778	c.1408C>A	c.(1408-1410)Cgg>Agg	p.R470R	EPHB1_ENST00000493838.1_Silent_p.R31R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1			130					CTATGAGATCCGGTACTATGA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000398015.3	0	1	hg19	CCDS46921.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	0	0	0	9	377	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	0.993853	8	371	0	80	2		0	0	0	0	83	2	-2.980051	1	1	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.300000	0.140000	0.530000	0.280000	0.321071	0.300000	0	0.210000	0.420000
PAQR9	344838	broad.mit.edu	37	3	142681266	142681266	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:142681266C>A	ENST00000340634.3	-	1	912	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX			22					CCGATAATGTCGAAAAGACCC	0.577000																								0							SO:0001583	missense			ENST00000340634.3	1	0	hg19	CCDS3128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.51|18.51	3.639348|3.639348	0.67244|0.67244	.|.	.|.	ENSG00000188582|ENSG00000188582	ENST00000340634|ENST00000492509	T|.	0.38887|.	1.11|.	5.62|5.62	3.73|3.73	0.42828|0.42828	.|.	0.060822|.	0.64402|.	D|.	0.000005|.	T|T	0.73241|0.73241	0.3562|0.3562	M|M	0.81239|0.81239	2.535|2.535	0.51012|0.51012	D|D	0.999907|0.999907	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.74654|0.74654	-0.3593|-0.3593	10|5	0.87932|.	D|.	0|.	-44.4143|-44.4143	11.0086|11.0086	0.47649|0.47649	0.0:0.8011:0.1293:0.0696|0.0:0.8011:0.1293:0.0696	.|.	305|.	Q6ZVX9|.	PAQR9_HUMAN|.	Y|L	305|45	ENSP00000341564:D305Y|.	ENSP00000341564:D305Y|.	D|R	-|-	1|2	0|0	PAQR9|PAQR9	144163956|144163956	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.979000|0.979000	0.70002|0.70002	3.966000|3.966000	0.56795|0.56795	1.381000|1.381000	0.46364|0.46364	0.650000|0.650000	0.86243|0.86243	GAC|CGA		TCGA-XN-A8T3-01A-11D-A36O-08	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	1	0	0	16	313	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	0.999927	14	308	0	71	2		0	0	0	0	72	2	-4.858763	1	1	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.620000	0.360000	0.940000	0.600000	0.637980	0.620000	0	0.480000	0.780000
SPATA16	83893	broad.mit.edu	37	3	172634107	172634107	+	Splice_Site	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:172634107C>A	ENST00000351008.3	-	9	1686	c.1503G>T	c.(1501-1503)ttG>ttT	p.L501F		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16			43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		AAATACTTACCAATTCTGCCT	0.408000																								0							SO:0001630	splice_region_variant			ENST00000351008.3	0	1	hg19	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491014	0.64074	.	.	ENSG00000144962	ENST00000351008	T	0.26660	1.72	6.16	6.16	0.99307	.	0.109181	0.40908	D	0.000983	T	0.40546	0.1121	L	0.32530	0.975	0.44871	D	0.997886	D	0.63046	0.992	P	0.62298	0.9	T	0.01130	-1.1442	9	.	.	.	-5.1947	20.8598	0.99761	0.0:1.0:0.0:0.0	.	501	Q9BXB7	SPT16_HUMAN	F	501	ENSP00000341765:L501F	.	L	-	3	2	SPATA16	174116801	1.000000	0.71417	0.998000	0.56505	0.184000	0.23303	3.061000	0.49963	2.937000	0.99478	0.650000	0.86243	TTG		TCGA-XN-A8T3-01A-11D-A36O-08	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	0	0	0	14	899	0	168		0	0	0	0	168	2		0	0	0	0	0	2	1	0.999718	12	885	0	166	2		0	0	0	0	168	2	-1.905127	0	1	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.190000	0.100000	0.310000	0.200000	0.204875	0.190000	0	0.140000	0.260000
NLGN1	22871	broad.mit.edu	37	3	173998609	173998609	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:173998609G>A	ENST00000457714.1	+	7	2417	c.1988G>A	c.(1987-1989)aGt>aAt	p.S663N	NLGN1_ENST00000401917.3_Missense_Mutation_p.S703N|NLGN1_ENST00000545397.1_Missense_Mutation_p.S663N|NLGN1_ENST00000361589.4_Missense_Mutation_p.S663N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1			83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		CAACAACCAAGTCCATTTTCA	0.468000																								0							SO:0001583	missense			ENST00000457714.1	1	1	hg19	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	9.582	1.123955	0.20959	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	N	0.24115	0.695	0.44694	D	0.997688	B	0.06786	0.001	B	0.06405	0.002	T	0.39482	-0.9612	10	0.21014	T	0.42	.	19.9651	0.97262	0.0:0.0:1.0:0.0	.	663	Q8N2Q7-2	.	N	663;663;663;703	ENSP00000392500:S663N;ENSP00000354541:S663N;ENSP00000441108:S663N;ENSP00000385750:S703N	ENSP00000354541:S663N	S	+	2	0	NLGN1	175481303	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.166000	0.64965	2.793000	0.96121	0.655000	0.94253	AGT		TCGA-XN-A8T3-01A-11D-A36O-08	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	1	0	0	31	418	0	86	0	5.180229e-03	1	1	0	86	2		0	0	0	0	0	2	1	1.000000	31	413	0	85	2		0	0	0	0	86	2	-20.000000	1	1	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.860000	0.600000	1.000000	1.000000	0.863504	0.860000	1	0.720000	1.000000
MCF2L2	23101	broad.mit.edu	37	3	182925517	182925517	+	Missense_Mutation	SNP	C	C	A	rs143903251		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:182925517C>A	ENST00000328913.3	-	23	2888	c.2591G>T	c.(2590-2592)cGa>cTa	p.R864L	MCF2L2_ENST00000468976.1_5'Flank|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R864L	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	p.R864L(1)|p.R864Q(1)		72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		GGGTTTAAATCGAATCAAATC	0.438000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000328913.3	1	0	hg19	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669066	0.88348	0.0	1.16E-4	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.02525	4.26;4.26	4.8	4.8	0.61643	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.11665	0.0284	L	0.58583	1.82	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00585	-1.1658	10	0.54805	T	0.06	.	13.7009	0.62608	0.0:1.0:0.0:0.0	.	864	Q86YR7	MF2L2_HUMAN	L	864	ENSP00000328118:R864L;ENSP00000420070:R864L	ENSP00000328118:R864L	R	-	2	0	MCF2L2	184408211	0.985000	0.35326	0.987000	0.45799	0.991000	0.79684	5.629000	0.67798	2.370000	0.80446	0.491000	0.48974	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	1	0	0	18	397	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	0.999981	17	393	0	101	2		0	0	0	0	101	2	-4.155578	1	0	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.550000	0.330000	0.820000	0.550000	0.567721	0.550000	0	0.430000	0.690000
EIF4A2	1974	broad.mit.edu	37	3	186503747	186503747	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:186503747C>A	ENST00000323963.5	+	5	488	c.424C>A	c.(424-426)Cga>Aga	p.R142R	SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000440191.2_Silent_p.R143R|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000356531.5_Silent_p.R47R|SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363548.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2			28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)		AACAAATGTTCGAAATGAAAT	0.398000			T	BCL6	NHL										Dom	yes		3	3q27.3	1974	eukaryotic translation initiation factor 4A, isoform 2		L	0							SO:0001819	synonymous_variant			ENST00000323963.5	1	0	hg19	CCDS3282.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	1	0	0	34	570	0	112	0	1	1	506	0	112	2		0	0	0	0	0	2	1	1.000000	33	557	0	111	2		0	0	0	0	112	2	-6.421663	1	1	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.700000	0.490000	0.950000	0.710000	0.720121	0.700000	0	0.590000	0.830000
IQCG	84223	broad.mit.edu	37	3	197665429	197665429	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:197665429G>T	ENST00000265239.6	-	5	929	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000455191.1_Missense_Mutation_p.Q169K|IQCG_ENST00000453254.1_Missense_Mutation_p.Q169K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G			21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)		CTATCAATCTGAATTTTCTTC	0.453000																								0							SO:0001583	missense			ENST00000265239.6	0	1	hg19	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251946	0.80135	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.57107	0.66;0.66;0.96;0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.81341	2.54	0.46927	D	0.999252	P;D	0.89917	0.911;1.0	P;D	0.71656	0.558;0.974	T	0.75764	-0.3203	10	0.59425	D	0.04	-21.4276	16.5383	0.84377	0.0:0.0:1.0:0.0	.	169;169	C9JKX8;Q9H095	.;IQCG_HUMAN	K	169;169;169;150	ENSP00000265239:Q169K;ENSP00000407736:Q169K;ENSP00000389897:Q169K;ENSP00000406411:Q150K	ENSP00000265239:Q169K	Q	-	1	0	IQCG	199149826	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.181000	0.50903	2.759000	0.94783	0.558000	0.71614	CAG		TCGA-XN-A8T3-01A-11D-A36O-08	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	0	0	0	16	803	0	193	0	7.145390e-02	0	21	0	193	2		0	0	0	0	0	2	1	0.999925	16	793	0	193	2		0	0	0	0	193	2	-2.492374	0	1	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.240000	0.140000	0.390000	0.240000	0.258707	0.240000	0	0.190000	0.320000
DNAH1	25981	broad.mit.edu	37	3	52398935	52398935	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:52398935C>A	ENST00000420323.2	+	34	5679	c.5418C>A	c.(5416-5418)tcC>tcA	p.S1806S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					GCATCGTGTCCGACCTGTTTC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000420323.2	1	1	hg19	CCDS46842.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	0	0	0	11	365	0	86	0	3.153512e-03	0	3	0	86	2		0	0	0	0	0	2	1	0.998292	10	363	0	84	2		0	0	0	0	86	2	-2.623419	1	1	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.370000	0.190000	0.620000	0.360000	0.395419	0.370000	0	0.270000	0.500000
PROK2	60675	broad.mit.edu	37	3	71821900	71821900	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:71821900C>A	ENST00000295619.3	-	4	373	c.365G>T	c.(364-366)cGa>cTa	p.R122L	PROK2_ENST00000353065.3_Missense_Mutation_p.R101L	NM_001126128.1	NP_001119600.1	Q9HC23	PROK2_HUMAN	prokineticin 2	p.R101Q(1)		6		Prostate(10;0.00899)			ACAAATAAATCGGTTAAATGA	0.408000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000295619.3	1	0	hg19	CCDS46868.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286476	0.59867	.	.	ENSG00000163421	ENST00000353065;ENST00000295619	T;T	0.66638	-0.22;-0.22	5.67	3.88	0.44766	Prokineticin domain (2);	0.167345	0.36519	N	0.002560	T	0.57095	0.2030	L	0.55481	1.735	0.35060	D	0.761469	B;P	0.39665	0.449;0.682	B;B	0.36922	0.202;0.236	T	0.68727	-0.5332	10	0.66056	D	0.02	-16.0798	6.6965	0.23201	0.0:0.7429:0.0:0.2571	.	122;101	Q9HC23;Q6ISR0	PROK2_HUMAN;.	L	101;122	ENSP00000295618:R101L;ENSP00000295619:R122L	ENSP00000295619:R122L	R	-	2	0	PROK2	71904590	0.998000	0.40836	0.948000	0.38648	0.980000	0.70556	0.952000	0.29149	1.404000	0.46819	0.655000	0.94253	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	PROK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352302.1	1	0	0	22	476	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	0.999999	21	474	0	73	2		0	0	0	0	73	2	-3.041735	1	1	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.550000	0.350000	0.800000	0.560000	0.573713	0.550000	0	0.450000	0.690000
PDZRN3	23024	broad.mit.edu	37	3	73432928	73432928	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:73432928G>A	ENST00000263666.4	-	10	2903	c.2789C>T	c.(2788-2790)aCg>aTg	p.T930M	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T652M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T587M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T647M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T587M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3			69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)			GATGTAGCGCGTCCCGTCGCT	0.672000																								0							SO:0001583	missense			ENST00000263666.4	1	1	hg19	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.162279|4.162279	0.78226|0.78226	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9;0.9	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.150407	.|0.64402	.|D	.|0.000015	T|T	0.68274|0.68274	0.2983|0.2983	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;P;D;D	.|0.75484	.|0.986;0.874;0.957;0.911	T|T	0.72717|0.72717	-0.4209|-0.4209	5|10	.|0.87932	.|D	.|0	.|.	18.7949|18.7949	0.91990|0.91990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|652;647;647;930	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	C|M	246|930;652;587;587;647	.|ENSP00000263666:T930M;ENSP00000442026:T652M;ENSP00000418168:T587M;ENSP00000418484:T587M;ENSP00000418624:T647M	.|ENSP00000263666:T930M	R|T	-|-	1|2	0|0	PDZRN3|PDZRN3	73515618|73515618	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.915000|0.915000	0.54546|0.54546	7.532000|7.532000	0.81985|0.81985	2.522000|2.522000	0.85027|0.85027	0.655000|0.655000	0.94253|0.94253	CGC|ACG		TCGA-XN-A8T3-01A-11D-A36O-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	1	31	213	0	64	0	7.659549e-01	0	21	0	64	2		0	0	0	0	0	2	1	1.000000	31	208	0	63	2		0	0	0	0	64	2	-20.000000	1	1	121400	1	23	1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.990000	0.990000	1.000000	1.000000	0.999704	0.990000	1	0.990000	1.000000
THUMPD3	25917	broad.mit.edu	37	3	9416208	9416208	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:9416208G>T	ENST00000345094.3	+	5	1150	c.816G>T	c.(814-816)ttG>ttT	p.L272F	THUMPD3_ENST00000515662.2_Missense_Mutation_p.L272F|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L272F	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3			19	Medulloblastoma(99;0.227)				AGGTTCTTTTGAACATCCATG	0.393000																								0							SO:0001583	missense			ENST00000345094.3	1	1	hg19	CCDS2573.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.68|16.68|16.68	3.190198|3.190198|3.190198	0.58017|0.58017|0.58017	.|.|.	.|.|.	ENSG00000134077|ENSG00000134077|ENSG00000134077	ENST00000416603|ENST00000452837;ENST00000345094;ENST00000515662|ENST00000441127	.|T;T;T|.	.|0.52526|.	.|0.66;0.66;0.66|.	5.57|5.57|5.57	4.7|4.7|4.7	0.59300|0.59300|0.59300	.|THUMP (3);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|.	.|0.77624|.	.|0.4158|.	M|M|M	0.88570|0.88570|0.88570	2.965|2.965|2.965	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	.|D|.	.|0.76494|.	.|0.999|.	.|D|.	.|0.83275|.	.|0.996|.	.|T|.	.|0.80111|.	.|-0.1519|.	.|10|.	.|0.40728|.	.|T|.	.|0.16|.	-16.9958|-16.9958|-16.9958	10.3831|10.3831|10.3831	0.44123|0.44123|0.44123	0.0738:0.1354:0.7908:0.0|0.0738:0.1354:0.7908:0.0|0.0738:0.1354:0.7908:0.0	.|.|.	.|272|.	.|Q9BV44|.	.|THUM3_HUMAN|.	X|F|L	105|272|129	.|ENSP00000395893:L272F;ENSP00000339532:L272F;ENSP00000424064:L272F|.	.|ENSP00000339532:L272F|.	E|L|X	+|+|+	1|3|2	0|2|2	THUMPD3|THUMPD3|THUMPD3	9391208|9391208|9391208	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.698000|0.698000|0.698000	0.40448|0.40448|0.40448	1.299000|1.299000|1.299000	0.33424|0.33424|0.33424	1.347000|1.347000|1.347000	0.45714|0.45714|0.45714	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAA|TTG|TGA		TCGA-XN-A8T3-01A-11D-A36O-08	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	0	0	0	24	671	0	151	0	2.923036e-01	0	30	0	151	2		0	0	0	0	0	2	1	1.000000	22	663	0	148	2		0	0	0	0	151	2	-3.282933	1	1	0	0		1	2	2	4	2.085353	0	0.190000	3.530000	0.319328	0.430000	0.280000	0.620000	0.440000	0.447927	0.430000	0	0.350000	0.530000
DNAJB14	79982	broad.mit.edu	37	4	100830014	100830014	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:100830014T>C	ENST00000442697.2	-	4	645	c.491A>G	c.(490-492)aAg>aGg	p.K164R		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14			5					CTGTTTTCGCTTTTCTGGATT	0.353000																								0							SO:0001583	missense			ENST00000442697.2	1	1	hg19	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079506	0.94050	.	.	ENSG00000164031	ENST00000442697	T	0.35973	1.28	5.8	5.8	0.92144	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	N	0.20685	0.6	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.78314	0.954;0.991	T	0.50608	-0.8808	10	0.62326	D	0.03	.	16.1549	0.81657	0.0:0.0:0.0:1.0	.	164;79	Q8TBM8;Q8TBM8-2	DJB14_HUMAN;.	R	164	ENSP00000404381:K164R	ENSP00000404381:K164R	K	-	2	0	DNAJB14	101049037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.490000	0.81461	2.209000	0.71365	0.533000	0.62120	AAG		TCGA-XN-A8T3-01A-11D-A36O-08	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	1	0	0	37	382	0	76	1	4.589017e-01	2	15	0	76	2		0	0	0	0	0	2	1	1.000000	36	375	0	79	2		0	0	0	0	76	2	-11.297400	1	0	0	0		1	2	2	4	2.088030	0	0.190000	3.530000	0.319328	0.990000	0.800000	1.000000	1.000000	0.977599	0.990000	1	0.940000	1.000000
PRDM5	11107	broad.mit.edu	37	4	121739540	121739540	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:121739540C>A	ENST00000264808.3	-	5	858	c.618G>T	c.(616-618)aaG>aaT	p.K206N	PRDM5_ENST00000428209.2_Missense_Mutation_p.K206N|PRDM5_ENST00000515109.1_Missense_Mutation_p.K206N	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5			34					CTGGGAATTTCTTCCCACAGT	0.373000																								0							SO:0001583	missense			ENST00000264808.3	1	1	hg19	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358729	0.82243	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.61158	0.13;0.13;0.13	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.82165	-0.0592	10	0.72032	D	0.01	-32.109	19.0126	0.92879	0.0:1.0:0.0:0.0	.	206;206;206	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	N	206	ENSP00000264808:K206N;ENSP00000422309:K206N;ENSP00000404832:K206N	ENSP00000264808:K206N	K	-	3	2	PRDM5	121958990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.395000	0.59678	2.498000	0.84270	0.555000	0.69702	AAG		TCGA-XN-A8T3-01A-11D-A36O-08	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2	1	0	1	69	479	0	87	0	4.492156e-02	0	3	0	87	2		0	0	0	0	0	2	1	1.000000	66	472	0	87	2		0	0	0	0	87	2	-20.000000	1	1	0	0		1	2	2	4	2.088030	0	0.190000	3.530000	0.319328	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	0.990000	1.000000
FAT4	79633	broad.mit.edu	37	4	126370128	126370128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:126370128G>T	ENST00000394329.3	+	9	7970	c.7957G>T	c.(7957-7959)Gag>Tag	p.E2653*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E951*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					ctCCTCTTACGAGAAACTTGA	0.373000																								0							SO:0001587	stop_gained			ENST00000394329.3	0	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	49	15.050129	0.99820	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.71	5.71	0.89125	.	0.214766	0.22554	U	0.058541	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.5378	0.61655	0.0799:0.0:0.9201:0.0	.	.	.	.	X	2653;951	.	ENSP00000335169:E951X	E	+	1	0	FAT4	126589578	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.431000	0.66507	2.686000	0.91538	0.650000	0.86243	GAG		TCGA-XN-A8T3-01A-11D-A36O-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	0	0	10	351	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	0.996894	10	349	0	105	2		0	0	0	0	107	2	-2.943021	1	1	0	0		1	2	2	4	2.088030	0	0.190000	3.530000	0.319328	0.360000	0.180000	0.610000	0.360000	0.377357	0.360000	0	0.260000	0.480000
DDX60	55601	broad.mit.edu	37	4	169227778	169227778	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:169227778G>T	ENST00000393743.3	-	5	649	c.358C>A	c.(358-360)Cga>Aga	p.R120R		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60			63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)			AATGTTGTTCGAACATCAATG	0.408000																								0							SO:0001819	synonymous_variant			ENST00000393743.3	1	0	hg19	CCDS34097.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	1	0	0	26	476	0	90	0	1.334524e-01	0	12	0	90	2		0	0	0	0	0	2	1	1.000000	26	472	0	89	2		0	0	0	0	90	2	-5.316327	1	0	0	0		1	2	2	4	2.088030	0	0.190000	3.530000	0.319328	0.650000	0.430000	0.910000	0.640000	0.667736	0.650000	0	0.530000	0.790000
GALNT7	51809	broad.mit.edu	37	4	174213298	174213298	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:174213298G>T	ENST00000265000.4	+	3	710	c.627G>T	c.(625-627)tcG>tcT	p.S209S	GALNT7_ENST00000502407.1_3'UTR|GALNT7_ENST00000512285.1_Silent_p.S209S	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7			19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)			TGCTCACTTCGAGCGTTGTCA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000265000.4	1	0	hg19	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	G	0.308	-0.969448	0.02232	.	.	ENSG00000109586	ENST00000505308	.	.	.	5.76	1.61	0.23674	.	.	.	.	.	T	0.60792	0.2296	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54768	-0.8244	4	.	.	.	.	11.4461	0.50125	0.1701:0.6473:0.1826:0.0	.	.	.	.	L	6	.	.	R	+	2	0	GALNT7	174449873	0.998000	0.40836	0.901000	0.35422	0.029000	0.11900	0.733000	0.26087	0.063000	0.16370	-2.258000	0.00281	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	1	0	0	20	524	0	103	0	3.343032e-01	0	31	0	103	2		0	0	0	0	0	2	1	0.999995	20	520	0	103	2		0	0	0	0	103	2	-2.660457	1	1	0	0		1	2	2	4	2.088030	0	0.190000	3.530000	0.319328	0.460000	0.290000	0.680000	0.450000	0.479906	0.460000	0	0.370000	0.580000
GPR125	166647	broad.mit.edu	37	4	22389706	22389706	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:22389706C>A	ENST00000334304.5	-	19	3857	c.3588G>T	c.(3586-3588)acG>acT	p.T1196T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125			56		Breast(46;0.198)			CTTCCACGCTCGTTGGGACAT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000334304.5	1	0	hg19	CCDS33964.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	1	0	0	41	666	0	129	0	9.985448e-01	0	158	0	129	2		0	0	0	0	0	2	1	1.000000	41	655	0	128	2		0	0	0	0	129	2	-2.774725	1	1	0	0		1	2	2	4	2.088030	0	0.190000	3.530000	0.319328	0.720000	0.530000	0.950000	0.720000	0.739078	0.720000	0	0.620000	0.850000
HSD17B11	51170	broad.mit.edu	37	4	88258508	88258508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:88258508C>A	ENST00000358290.4	-	7	1138	c.823G>T	c.(823-825)Gag>Tag	p.E275*	HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.E231*|RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11			11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			AGGAAACGCTCAGGAAGGATC	0.294000																								0							SO:0001587	stop_gained			ENST00000358290.4	0	1	hg19	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214804	0.39102	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	.	.	.	5.49	4.64	0.57946	.	0.079681	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	13.4986	0.61440	0.0:0.8429:0.1571:0.0	.	.	.	.	X	275;231	.	ENSP00000351035:E275X	E	-	1	0	HSD17B11	88477532	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	3.940000	0.56599	1.307000	0.44944	0.563000	0.77884	GAG		TCGA-XN-A8T3-01A-11D-A36O-08	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	0	0	0	21	622	0	102	0	9.940142e-01	1	240	0	102	2		0	0	0	0	0	2	1	0.999997	21	607	0	102	2		0	0	0	0	102	2	-2.821360	1	1	0	0		1	2	2	4	2.088030	0	0.190000	3.530000	0.319328	0.410000	0.250000	0.600000	0.400000	0.425849	0.410000	0	0.330000	0.510000
HERC5	51191	broad.mit.edu	37	4	89400623	89400623	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:89400623C>A	ENST00000264350.3	+	13	1855	c.1702C>A	c.(1702-1704)Caa>Aaa	p.Q568K	HERC5_ENST00000508159.1_Missense_Mutation_p.Q206K	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5			53		Hepatocellular(203;0.114)			TGGTAATGTTCAAGCTCTCCT	0.418000													Esophageal Squamous(39;887 1012 34045 50514)											0							SO:0001583	missense			ENST00000264350.3	1	0	hg19	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	C	0.159	-1.083120	0.01888	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.34859	1.34;1.41	4.59	-1.37	0.09056	.	0.494741	0.17118	N	0.186342	T	0.07999	0.0200	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33727	-0.9857	10	0.02654	T	1	.	5.0553	0.14529	0.3925:0.4185:0.189:0.0	.	568	Q9UII4	HERC5_HUMAN	K	568;206	ENSP00000264350:Q568K;ENSP00000424129:Q206K	ENSP00000264350:Q568K	Q	+	1	0	HERC5	89619646	0.005000	0.15991	0.001000	0.08648	0.243000	0.25628	0.216000	0.17585	-0.352000	0.08237	-0.484000	0.04775	CAA		TCGA-XN-A8T3-01A-11D-A36O-08	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	1	0	0	20	421	0	73	0	4.148375e-02	0	7	0	73	2		0	0	0	0	0	2	1	0.999994	20	411	0	72	2		0	0	0	0	73	2	-4.697256	1	1	0	0		1	2	2	4	2.088030	0	0.190000	3.530000	0.319328	0.570000	0.360000	0.840000	0.560000	0.590805	0.570000	0	0.450000	0.710000
HSD17B4	3295	broad.mit.edu	37	5	118844936	118844936	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:118844936C>A	ENST00000256216.6	+	16	1567	c.1434C>A	c.(1432-1434)gtC>gtA	p.V478V	HSD17B4_ENST00000510025.1_Silent_p.V454V|HSD17B4_ENST00000515320.1_Silent_p.V460V|HSD17B4_ENST00000513628.1_Silent_p.V341V|HSD17B4_ENST00000414835.2_Silent_p.V338V|HSD17B4_ENST00000509514.1_Silent_p.V216V|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Silent_p.V503V	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4			25		all_cancers(142;0.0206)|Prostate(80;0.0322)			CAGACAAAGTCAAGGTAAGCC	0.393000													Colon(35;490 801 34689 41394 43344)											0							SO:0001819	synonymous_variant			ENST00000256216.6	1	0	hg19	CCDS4126.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	1	0	0	21	493	0	107	0	9.839130e-01	0	157	0	107	2		0	0	0	0	0	2	1	0.999997	21	484	0	107	2		0	0	0	0	107	2	-3.146762	1	1	0	0		1	1	2	3	1.926416	0	0.190000	3.530000	0.260274	0.470000	0.300000	0.690000	0.480000	0.488719	0.470000	0	0.380000	0.590000
SLC12A2	6558	broad.mit.edu	37	5	127487009	127487009	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:127487009C>A	ENST00000262461.2	+	14	2373	c.2184C>A	c.(2182-2184)ttC>ttA	p.F728L	SLC12A2_ENST00000343225.4_Missense_Mutation_p.F728L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2			48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TAGTAATGTTCGTCATTAACT	0.358000																								0							SO:0001583	missense			ENST00000262461.2	1	0	hg19	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010041	0.54361	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98747	-5.11;-5.11	4.7	-0.669	0.11388	Amino acid permease domain (1);	0.115149	0.64402	D	0.000013	D	0.97470	0.9172	M	0.70903	2.155	0.80722	D	1	P;P	0.49635	0.909;0.926	B;P	0.47251	0.407;0.542	D	0.94969	0.8115	10	0.87932	D	0	.	9.3862	0.38345	0.0:0.2836:0.0:0.7164	.	728;728	P55011-3;P55011	.;S12A2_HUMAN	L	728	ENSP00000262461:F728L;ENSP00000340878:F728L	ENSP00000262461:F728L	F	+	3	2	SLC12A2	127514908	0.988000	0.35896	0.997000	0.53966	0.988000	0.76386	0.178000	0.16820	-0.167000	0.10871	-0.294000	0.09567	TTC		TCGA-XN-A8T3-01A-11D-A36O-08	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	1	0	0	20	491	0	102	0	3.178234e-01	0	28	0	102	2		0	0	0	0	0	2	1	0.999995	17	485	0	102	2		0	0	0	0	102	2	-3.083980	1	1	0	0		1	1	2	3	1.926416	0	0.190000	3.530000	0.260274	0.450000	0.280000	0.670000	0.450000	0.469217	0.450000	0	0.360000	0.570000
DDX46	9879	broad.mit.edu	37	5	134109505	134109505	+	Silent	SNP	C	C	A	rs140064519		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:134109505C>A	ENST00000354283.4	+	5	702	c.567C>A	c.(565-567)atC>atA	p.I189I	DDX46_ENST00000452510.2_Silent_p.I189I			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46			30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		AAAAGGAAATCGAAGAGATGA	0.353000													Colon(13;391 453 4901 21675 24897)											0							SO:0001819	synonymous_variant			ENST00000354283.4	1	0	hg19	CCDS34240.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	1	0	0	17	312	0	37	0	6.439212e-01	0	41	0	37	2		0	0	0	0	0	2	1	0.999966	17	309	0	37	2		0	0	0	0	37	2	-3.139300	1	1	0	0		1	1	2	3	1.926416	0	0.190000	3.530000	0.260274	0.600000	0.360000	0.900000	0.600000	0.620783	0.600000	0	0.470000	0.760000
PCDHA11	56138	broad.mit.edu	37	5	140250312	140250312	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:140250312C>T	ENST00000398640.2	+	1	1624	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11			2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGCGGGCGTGCCGCCTCTGAG	0.692000																								0							SO:0001583	missense			ENST00000398640.2	0	1	hg19	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788483	0.70337	.	.	ENSG00000249158	ENST00000398640	T	0.56776	0.44	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78698	0.4324	M	0.92026	3.265	0.35643	D	0.811176	D;D	0.89917	1.0;1.0	D;D	0.71414	0.969;0.973	D	0.87476	0.2417	9	0.87932	D	0	.	18.2779	0.90089	0.0:1.0:0.0:0.0	.	542;542	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	542	ENSP00000381636:P542S	ENSP00000381636:P542S	P	+	1	0	PCDHA11	140230496	0.999000	0.42202	0.994000	0.49952	0.949000	0.60115	5.585000	0.67497	2.398000	0.81561	0.556000	0.70494	CCG		TCGA-XN-A8T3-01A-11D-A36O-08	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	0	0	0	7	732	1	227	0	0	0	1	1	227	2		0	0	0	0	0	2	0	0.119184	8	716	1	224	13		0	0	0	1	227	2	-2.017182	0	1	0	0		1	1	2	3	1.926416	0	0.190000	3.530000	0.260274	0.110000	0.040000	0.220000	0.120000	0.123967	0.110000	0	0.070000	0.170000
GLRA1	2741	broad.mit.edu	37	5	151208531	151208531	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:151208531C>A	ENST00000455880.2	-	8	1296	c.1010G>T	c.(1009-1011)cGg>cTg	p.R337L	GLRA1_ENST00000545569.1_Missense_Mutation_p.R254L|GLRA1_ENST00000274576.4_Missense_Mutation_p.R337L			P23415	GLRA1_HUMAN	glycine receptor, alpha 1			23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTATGTTGCCGAGACACAAA	0.478000																								0							SO:0001583	missense			ENST00000455880.2	0	1	hg19	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369025	0.82463	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.85411	-1.98;-1.98;-1.98	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.79693	2.465	0.80722	D	1	P;P;P	0.36789	0.57;0.493;0.514	P;P;B	0.47376	0.545;0.545;0.313	D	0.91347	0.5101	10	0.72032	D	0.01	.	18.826	0.92119	0.0:1.0:0.0:0.0	.	337;254;337	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	L	337;337;254	ENSP00000274576:R337L;ENSP00000411593:R337L;ENSP00000445913:R254L	ENSP00000274576:R337L	R	-	2	0	GLRA1	151188724	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.557000	0.82243	2.524000	0.85096	0.650000	0.86243	CGG		TCGA-XN-A8T3-01A-11D-A36O-08	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1	0	0	0	11	745	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	0.998227	11	736	0	166	2		0	0	0	0	167	2	-1.949272	0	1	0	0		1	1	2	3	1.926416	0	0.190000	3.530000	0.260274	0.170000	0.080000	0.290000	0.180000	0.181783	0.170000	0	0.120000	0.230000
ITK	3702	broad.mit.edu	37	5	156608060	156608060	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:156608060G>T	ENST00000422843.3	+	1	224	c.72G>T	c.(70-72)tcG>tcT	p.S24S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	p.S24S(1)		70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	Pazopanib(DB06589)	CTTCTCCCTCGAACTTTAAAG	0.423000			T	SYK	peripheral T-cell lymphoma								Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000422843.3	1	0	hg19	CCDS4336.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2	1	0	0	23	576	0	107	0	1.658366e-03	0	2	0	107	2		0	0	0	0	0	2	1	0.999999	24	564	0	107	2		0	0	0	0	107	2	-3.374308	1	1	0	0		1	1	2	3	1.926416	0	0.190000	3.530000	0.260274	0.440000	0.280000	0.640000	0.450000	0.458104	0.440000	0	0.360000	0.550000
RUFY1	80230	broad.mit.edu	37	5	179016622	179016622	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:179016622C>A	ENST00000319449.4	+	9	1114	c.1102C>A	c.(1102-1104)Cga>Aga	p.R368R	RUFY1_ENST00000393438.2_Silent_p.R260R|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Silent_p.R260R	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1			26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TGAATTAATTCGAGAAAGAAG	0.388000										HNSCC(44;0.11)														0							SO:0001819	synonymous_variant			ENST00000319449.4	1	0	hg19	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321386	0.23994	.	.	ENSG00000176783	ENST00000508609	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	T	0.75384	0.3842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73597	-0.3932	4	.	.	.	-12.448	19.3849	0.94553	0.0:1.0:0.0:0.0	.	.	.	.	L	156	.	.	F	+	3	2	RUFY1	178949228	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	4.156000	0.58138	2.581000	0.87130	0.549000	0.68633	TTC		TCGA-XN-A8T3-01A-11D-A36O-08	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	1	0	0	24	494	0	109	0	8.437151e-01	0	71	0	109	2		0	0	0	0	0	2	1	1.000000	24	489	0	108	2		0	0	0	0	109	2	-2.868109	1	1	0	0		1	1	2	3	1.926416	0	0.190000	3.530000	0.260274	0.530000	0.350000	0.760000	0.540000	0.551106	0.530000	0	0.430000	0.650000
CENPH	64946	broad.mit.edu	37	5	68490517	68490517	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:68490517C>A	ENST00000283006.2	+	3	321	c.234C>A	c.(232-234)atC>atA	p.I78I	CENPH_ENST00000515001.1_Silent_p.I78I	NM_022909.3	NP_075060.1			centromere protein H	p.I78I(1)		20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)			AAAAGCAAATCGAAGCGTATG	0.279000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000283006.2	1	0	hg19	CCDS3998.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215083.1	1	0	0	15	298	0	58	0	4.472482e-01	0	30	0	58	2		0	0	0	0	0	2	1	0.999869	15	294	0	57	2		0	0	0	0	58	2	-16.599580	1	1	0	0		1	1	2	3	1.924566	0	0.190000	3.530000	0.260274	0.560000	0.320000	0.860000	0.540000	0.579827	0.560000	0	0.430000	0.710000
CMYA5	202333	broad.mit.edu	37	5	79025398	79025398	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:79025398G>A	ENST00000446378.2	+	2	841	c.810G>A	c.(808-810)gaG>gaA	p.E270E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5			128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)			TTAGTCTAGAGCCAGATTTGG	0.353000																								0							SO:0001819	synonymous_variant			ENST00000446378.2	1	1	hg19	CCDS47238.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	0	20	265	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	0.999996	20	263	0	53	2		0	0	0	0	53	2	-19.999970	1	0	0	0		1	1	2	3	1.926416	0	0.190000	3.530000	0.260274	0.810000	0.510000	1.000000	1.000000	0.816180	0.810000	0	0.650000	1.000000
MCM9	254394	broad.mit.edu	37	6	119238766	119238766	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:119238766G>T	ENST00000316316.6	-	5	1150	c.864C>A	c.(862-864)ttC>ttA	p.F288L	MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9			18		all_cancers(87;0.122)|all_epithelial(87;0.179)			AAAAATCTTCGAATTCCTTTT	0.378000																								0							SO:0001583	missense			ENST00000316316.6	1	0	hg19	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454336	0.84209	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.06142	3.73;3.34	5.81	4.65	0.58169	.	.	.	.	.	T	0.16085	0.0387	M	0.87682	2.9	0.52099	D	0.999949	D	0.89917	1.0	D	0.70016	0.967	T	0.02098	-1.1214	9	0.36615	T	0.2	.	11.7956	0.52098	0.9314:0.0:0.0686:0.0	.	288	Q9NXL9-2	.	L	288	ENSP00000314505:F288L;ENSP00000312870:F288L	ENSP00000312870:F288L	F	-	3	2	MCM9	119280465	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.102000	0.57776	1.044000	0.40200	-0.251000	0.11542	TTC		TCGA-XN-A8T3-01A-11D-A36O-08	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	1	0	0	26	648	0	130	0	3.896453e-02	0	8	0	130	2		0	0	0	0	0	2	1	1.000000	24	638	0	128	2		0	0	0	0	130	2	-3.493684	1	1	0	0		1	0	2	2	1.748141	1	0.190000	3.530000	0.190000	0.400000	0.270000	0.570000	0.400000	0.417763	0.400000	0	0.330000	0.490000
ENPP3	5169	broad.mit.edu	37	6	131979467	131979467	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:131979467G>T	ENST00000414305.1	+	7	797	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	ENPP3_ENST00000543135.1_Missense_Mutation_p.D123Y|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000427148.2_Missense_Mutation_p.D123Y|ENPP3_ENST00000357639.3_Missense_Mutation_p.D157Y|ENPP3_ENST00000358229.5_Missense_Mutation_p.D157Y			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3			53	Breast(56;0.0753)				TTTCAGGTTTGACCTGCCACC	0.328000																								0							SO:0001583	missense			ENST00000414305.1	0	1	hg19	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432322	0.62844	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.46	5.46	0.80206	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.726895	0.12959	N	0.425153	T	0.77032	0.4071	M	0.73962	2.25	0.38009	D	0.934463	P	0.47545	0.897	P	0.49561	0.615	T	0.79536	-0.1763	10	0.66056	D	0.02	-12.1846	16.5792	0.84710	0.0:0.0:1.0:0.0	.	157	O14638	ENPP3_HUMAN	Y	157;157;123;123;157	ENSP00000406261:D157Y;ENSP00000350265:D157Y;ENSP00000440810:D123Y;ENSP00000399269:D123Y;ENSP00000350964:D157Y	ENSP00000350265:D157Y	D	+	1	0	ENPP3	132021160	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	2.644000	0.46613	2.722000	0.93159	0.650000	0.86243	GAC		TCGA-XN-A8T3-01A-11D-A36O-08	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2	0	0	0	8	283	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	0.989634	8	283	0	61	2		0	0	0	0	62	2	-3.607918	1	1	0	0		1	0	2	2	1.748141	1	0.190000	3.530000	0.190000	0.300000	0.140000	0.530000	0.280000	0.318600	0.300000	0	0.210000	0.420000
HBS1L	10767	broad.mit.edu	37	6	135318671	135318671	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:135318671C>A	ENST00000367837.5	-	6	869	c.663G>T	c.(661-663)acG>acT	p.T221T	HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367826.2_Silent_p.T179T|HBS1L_ENST00000527578.1_Silent_p.T57T|HBS1L_ENST00000415177.2_Silent_p.T156T|HBS1L_ENST00000367824.4_Silent_p.T57T	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase			20	Colorectal(23;0.221)				ATGCTTGAATCGTGTGGGGTG	0.493000																								0							SO:0001819	synonymous_variant			ENST00000367837.5	1	0	hg19	CCDS5173.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2	1	0	0	19	403	0	115	0	5.029439e-01	0	36	0	115	2		0	0	0	0	0	2	1	0.999989	18	396	0	112	2		0	0	0	0	115	2	-4.045674	1	1	0	0		1	0	2	2	1.748141	1	0.190000	3.530000	0.190000	0.470000	0.290000	0.700000	0.470000	0.491507	0.470000	0	0.370000	0.590000
TRIM38	10475	broad.mit.edu	37	6	25972146	25972146	+	Missense_Mutation	SNP	T	T	G			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:25972146T>G	ENST00000357085.3	+	5	1033	c.557T>G	c.(556-558)cTc>cGc	p.L186R	TRIM38_ENST00000349458.3_Missense_Mutation_p.L186R	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38			23					TTTAAGAATCTCCAGTGTTTC	0.438000																								0							SO:0001583	missense			ENST00000357085.3	1	1	hg19	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	t	8.516	0.867585	0.17250	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.07216	3.21;3.21;3.21	4.55	3.37	0.38596	.	0.000000	0.39985	N	0.001212	T	0.07999	0.0200	M	0.80746	2.51	0.09310	N	0.999999	P	0.52316	0.952	P	0.52267	0.694	T	0.16188	-1.0411	10	0.27082	T	0.32	.	7.6274	0.28220	0.1881:0.0:0.0:0.8119	.	186	O00635	TRI38_HUMAN	R	186	ENSP00000443976:L186R;ENSP00000230099:L186R;ENSP00000349596:L186R	ENSP00000230099:L186R	L	+	2	0	TRIM38	26080125	0.041000	0.20044	0.012000	0.15200	0.001000	0.01503	2.090000	0.41682	1.047000	0.40274	-0.327000	0.08410	CTC		TCGA-XN-A8T3-01A-11D-A36O-08	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2	1	0	1	22	223	0	57	1	8.179919e-01	5	29	0	57	2		0	0	0	0	0	2	1	0.899604	22	217	1	56	15		0	0	0	0	57	2	-9.032588	1	1	0	0		1	0	2	2	1.736554	1	0.190000	3.530000	0.190000	0.940000	0.610000	1.000000	1.000000	0.903557	0.940000	1	0.760000	1.000000
TNXB	7148	broad.mit.edu	37	6	32049954	32049954	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:32049954G>A	ENST00000375244.3	-	9	3796	c.3595C>T	c.(3595-3597)Cgg>Tgg	p.R1199W	TNXB_ENST00000375247.2_Missense_Mutation_p.R1199W			P22105	TENX_HUMAN	tenascin XB			8					ACCTGGGGCCGTCCATCCCTG	0.562000																								0							SO:0001583	missense			ENST00000375244.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278036	0.59758	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.41;0.41	4.74	4.74	0.60224	.	0.905187	0.09249	N	0.828076	T	0.53867	0.1823	M	0.61703	1.905	0.09310	N	1	D	0.64830	0.994	P	0.61397	0.888	T	0.41698	-0.9494	10	0.39692	T	0.17	.	10.3406	0.43875	0.0:0.0:0.804:0.196	.	1199	P22105-3	.	W	1199	ENSP00000364393:R1199W;ENSP00000364396:R1199W	ENSP00000364393:R1199W	R	-	1	2	TNXB	32157932	0.003000	0.15002	0.035000	0.18076	0.930000	0.56654	1.320000	0.33666	2.461000	0.83175	0.407000	0.27541	CGG		TCGA-XN-A8T3-01A-11D-A36O-08	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	1	44	130	0	20	0	0	0	1	0	20	2		0	0	0	0	0	2	1	1.000000	43	129	0	20	2		0	0	0	0	20	2	-20.000000	1	1	0	0		1	2	10	12	3.031716	1	0.190000	3.530000	0.537275	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
EFHC1	114327	broad.mit.edu	37	6	52357122	52357122	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:52357122C>A	ENST00000371068.5	+	11	2009	c.1906C>A	c.(1906-1908)Cgt>Agt	p.R636S	EFHC1_ENST00000538167.1_Missense_Mutation_p.R617S|EFHC1_ENST00000433625.2_Intron	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1			27	Lung NSC(77;0.109)				TAACTTTGTTCGTGCTTTCTC	0.393000																								0							SO:0001583	missense			ENST00000371068.5	1	0	hg19	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992193	0.74703	.	.	ENSG00000096093	ENST00000371068;ENST00000538167	T;T	0.42131	0.98;0.98	4.72	3.78	0.43462	EF-hand-like domain (1);	0.235946	0.38381	N	0.001710	T	0.33000	0.0848	L	0.59436	1.845	0.80722	D	1	D;P	0.54964	0.969;0.947	P;P	0.54460	0.753;0.571	T	0.08617	-1.0713	10	0.11794	T	0.64	-7.7181	9.6159	0.39692	0.2083:0.7917:0.0:0.0	.	617;636	F5GZD8;Q5JVL4	.;EFHC1_HUMAN	S	636;617	ENSP00000360107:R636S;ENSP00000444521:R617S	ENSP00000360107:R636S	R	+	1	0	EFHC1	52465081	0.627000	0.27129	0.946000	0.38457	0.995000	0.86356	1.315000	0.33608	2.612000	0.88384	0.591000	0.81541	CGT		TCGA-XN-A8T3-01A-11D-A36O-08	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	1	0	0	34	819	0	147	0	7.143613e-01	0	61	0	147	2		0	0	0	0	0	2	1	1.000000	35	814	0	146	2		0	0	0	0	147	2	-4.691567	1	1	0	0		1	2	4	6	2.398453	1	0.190000	3.530000	0.409793	0.580000	0.400000	0.820000	0.590000	0.594379	0.580000	0	0.480000	0.690000
GFRAL	389400	broad.mit.edu	37	6	55216353	55216353	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:55216353C>T	ENST00000340465.2	+	5	759	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like			48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)		CAGTGTAATTCGCAGCTGCCA	0.428000																								0							SO:0001583	missense			ENST00000340465.2	1	1	hg19	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588449	0.86851	.	.	ENSG00000187871	ENST00000340465	T	0.64991	-0.13	6.05	6.05	0.98169	GDNF/GAS1 (2);	0.376195	0.29424	N	0.012190	T	0.62551	0.2437	L	0.34521	1.04	0.43014	D	0.994552	D	0.67145	0.996	P	0.56788	0.806	T	0.64084	-0.6490	10	0.62326	D	0.03	-2.3631	20.6087	0.99469	0.0:1.0:0.0:0.0	.	225	Q6UXV0	GFRAL_HUMAN	C	225	ENSP00000343636:R225C	ENSP00000343636:R225C	R	+	1	0	GFRAL	55324312	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.954000	0.56708	2.866000	0.98385	0.650000	0.86243	CGC		TCGA-XN-A8T3-01A-11D-A36O-08	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	1	0	0	17	243	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	0.999966	16	240	0	44	2		0	0	0	0	47	2	-19.885110	1	0	0	0		1	2	4	6	2.398453	1	0.190000	3.530000	0.409793	0.960000	0.580000	1.000000	1.000000	0.904320	0.960000	1	0.760000	1.000000
FASTK	10922	broad.mit.edu	37	7	150775665	150775665	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:150775665G>A	ENST00000297532.6	-	4	886	c.809C>T	c.(808-810)aCg>aTg	p.T270M	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000482571.1_Missense_Mutation_p.T243M|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.T129M|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase			6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)		GCTGAGTTGCGTTTCCTGAAC	0.642000																								0							SO:0001583	missense			ENST00000297532.6	1	1	hg19	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657389	0.29425	0.0	1.16E-4	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.30448	1.94;1.94;1.53	4.75	0.664	0.17890	.	0.729997	0.12332	N	0.478305	T	0.11793	0.0287	N	0.08118	0	0.80722	D	1	P;B;B	0.47545	0.897;0.002;0.0	B;B;B	0.37091	0.241;0.001;0.0	T	0.10660	-1.0620	10	0.56958	D	0.05	6.7165	3.399	0.07316	0.0809:0.2673:0.3781:0.2737	.	243;129;270	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	M	270;270;129;270;243	ENSP00000324817:T129M;ENSP00000297532:T270M;ENSP00000418516:T243M	ENSP00000297530:T270M	T	-	2	0	FASTK	150406598	1.000000	0.71417	0.964000	0.40570	0.859000	0.49053	1.929000	0.40114	0.003000	0.14656	-0.152000	0.13540	ACG		TCGA-XN-A8T3-01A-11D-A36O-08	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	1	0	1	40	138	0	48	1	1	60	82	0	48	2		0	0	0	0	0	2	1	1.000000	39	136	0	47	2		0	0	0	0	48	2	-20.000000	1	0	121402	3	35	1	0	3	3	1.935171	1	0.190000	3.530000	0.260274	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
CROT	54677	broad.mit.edu	37	7	86978419	86978419	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:86978419G>T	ENST00000331536.3	+	3	220	c.35G>T	c.(34-36)cGa>cTa	p.R12L	CROT_ENST00000419147.2_Missense_Mutation_p.R12L|CROT_ENST00000412227.2_Missense_Mutation_p.R12L|CROT_ENST00000442291.1_Missense_Mutation_p.R12L	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase			37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)			L-Carnitine(DB00583)	ACTGAAGAACGAACATTTCAG	0.338000																								0							SO:0001583	missense			ENST00000331536.3	1	0	hg19	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371237	0.82573	.	.	ENSG00000005469	ENST00000419147;ENST00000412227;ENST00000331536;ENST00000442291	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.85	5.85	0.93711	.	0.303544	0.31167	N	0.008131	D	0.91185	0.7223	L	0.41961	1.31	0.58432	D	0.999997	D;D;P	0.64830	0.994;0.991;0.953	P;P;P	0.59487	0.858;0.618;0.748	D	0.88293	0.2944	10	0.25106	T	0.35	-13.5987	19.7758	0.96391	0.0:0.0:1.0:0.0	.	12;12;12	E7EQF2;Q9UKG9;Q86V17	.;OCTC_HUMAN;.	L	12	ENSP00000413575:R12L;ENSP00000404867:R12L;ENSP00000331981:R12L;ENSP00000411983:R12L	ENSP00000331981:R12L	R	+	2	0	CROT	86816355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.489000	0.81451	2.782000	0.95742	0.655000	0.94253	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	1	0	0	26	556	0	107	0	6.323854e-02	0	9	0	107	2		0	0	0	0	0	2	1	1.000000	26	547	0	106	2		0	0	0	0	107	2	-2.942352	1	1	0	0		1	0	3	3	1.919343	1	0.190000	3.530000	0.260274	0.510000	0.340000	0.730000	0.510000	0.530296	0.510000	0	0.420000	0.630000
GTPBP10	85865	broad.mit.edu	37	7	90006865	90006865	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:90006865G>T	ENST00000222511.6	+	7	702	c.636G>T	c.(634-636)atG>atT	p.M212I	GTPBP10_ENST00000257659.8_Missense_Mutation_p.M133I	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)			10					GAGCACATATGAACAAAGGAA	0.318000																								0							SO:0001583	missense			ENST00000222511.6	1	0	hg19	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025864	0.35701	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000257659;ENST00000222511;ENST00000417207	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.89	5.89	0.94794	GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.624103	0.18956	N	0.126524	T	0.18882	0.0453	L	0.58583	1.82	0.39265	D	0.964286	B;B;B;B	0.20988	0.05;0.015;0.04;0.034	B;B;B;B	0.23852	0.013;0.049;0.048;0.026	T	0.04281	-1.0963	9	.	.	.	-9.5889	10.8413	0.46718	0.0697:0.1307:0.7995:0.0	.	133;212;203;229	A4D1E9-2;A4D1E9;C9J8R7;C9JNI1	.;GTPBA_HUMAN;.;.	I	203;229;133;212;139	ENSP00000405697:M203I;ENSP00000389510:M229I;ENSP00000257659:M133I;ENSP00000222511:M212I;ENSP00000416596:M139I	.	M	+	3	0	GTPBP10	89844801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.153000	0.42282	2.787000	0.95880	0.650000	0.86243	ATG		TCGA-XN-A8T3-01A-11D-A36O-08	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	1	0	0	41	1039	0	205	0	4.193923e-01	0	37	0	205	2		0	0	0	0	0	2	1	1.000000	41	1016	0	203	2		0	0	0	0	205	2	-3.685974	1	1	0	0		1	0	3	3	1.919343	1	0.190000	3.530000	0.260274	0.430000	0.310000	0.580000	0.430000	0.446240	0.430000	0	0.370000	0.510000
RIMS2	9699	broad.mit.edu	37	8	105257203	105257203	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:105257203G>A	ENST00000436393.2	+	24	3689	c.3448G>A	c.(3448-3450)Gtg>Atg	p.V1150M	RIMS2_ENST00000507740.1_Missense_Mutation_p.V946M|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1132M|RIMS2_ENST00000339750.2_Missense_Mutation_p.V68M|RIMS2_ENST00000262231.10_Missense_Mutation_p.V971M			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2			144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		AGGCCTGGCCGTGGAAATGAG	0.463000										HNSCC(12;0.0054)														0							SO:0001583	missense			ENST00000436393.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.59	3.166677	0.57476	0.0	1.2E-4	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.21361	2.58;2.28;2.27;2.03;2.48;2.02;2.01	5.05	5.05	0.67936	.	.	.	.	.	T	0.28797	0.0714	L	0.43152	1.355	0.58432	D	0.999996	D;P;D;B;B	0.56035	0.974;0.669;0.966;0.161;0.161	P;B;P;B;B	0.49047	0.499;0.032;0.599;0.024;0.024	T	0.01051	-1.1468	9	0.44086	T	0.13	.	18.5918	0.91215	0.0:0.0:1.0:0.0	.	1194;1150;971;946;1132	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	M	1169;1132;1194;971;946;1139;1150;68;68	ENSP00000384892:V1132M;ENSP00000262231:V971M;ENSP00000423559:V946M;ENSP00000386228:V1139M;ENSP00000390665:V1150M;ENSP00000428478:V68M;ENSP00000342051:V68M	ENSP00000262231:V971M	V	+	1	0	RIMS2	105326379	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.807000	0.86032	2.623000	0.88846	0.650000	0.86243	GTG		TCGA-XN-A8T3-01A-11D-A36O-08	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	1	0	1	109	616	0	132	0	0	0	1	0	132	2		0	0	0	0	0	2	1	1.000000	108	613	0	131	2		0	0	0	0	132	2	-20.000000	1	1	120954	2	39	1	2	3	5	2.222887	1	0.190000	3.530000	0.366841	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
CSMD3	114788	broad.mit.edu	37	8	113599442	113599442	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:113599442C>A	ENST00000297405.5	-	23	3982	c.3738G>T	c.(3736-3738)acG>acT	p.T1246T	CSMD3_ENST00000352409.3_Silent_p.T1246T|CSMD3_ENST00000455883.2_Silent_p.T1142T|CSMD3_ENST00000343508.3_Silent_p.T1206T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					CTTCATTATTCGTTGCAGATG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001819	synonymous_variant			ENST00000297405.5	1	0	hg19	CCDS6315.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	0	20	593	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	0.999995	20	584	0	78	2		0	0	0	0	78	2	-2.866560	1	1	0	0		1	2	3	5	2.222887	1	0.190000	3.530000	0.366841	0.440000	0.270000	0.700000	0.440000	0.463835	0.440000	0	0.350000	0.560000
FER1L6	654463	broad.mit.edu	37	8	124989741	124989741	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:124989741C>A	ENST00000522917.1	+	10	1161	c.955C>A	c.(955-957)Cgg>Agg	p.R319R	FER1L6_ENST00000399018.1_Silent_p.R319R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6			118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)		TCCCTTGTGTCGGAGGGTGAA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000522917.1	1	0	hg19	CCDS43767.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	1	0	0	20	528	0	77	0	0	0	1	0	77	2		0	0	0	0	0	2	1	0.999995	20	526	0	76	2		0	0	0	0	77	2	-3.471697	1	1	0	0		1	2	3	5	2.222887	1	0.190000	3.530000	0.366841	0.500000	0.310000	0.780000	0.490000	0.517319	0.500000	0	0.390000	0.630000
PCM1	5108	broad.mit.edu	37	8	17814853	17814853	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:17814853G>T	ENST00000519253.1	+	12	1978	c.1727G>T	c.(1726-1728)cGa>cTa	p.R576L	PCM1_ENST00000325083.8_Missense_Mutation_p.R576L|PCM1_ENST00000524226.1_Missense_Mutation_p.R576L			Q15154	PCM1_HUMAN	pericentriolar material 1		PCM1/JAK2(30)	48					AGAGATGGGCGAACAGTTAAT	0.363000			T	RET, JAK2	papillary thyroid, CML, MPD										Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		E, L	0							SO:0001583	missense			ENST00000519253.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	22.1	4.247804	0.80024	.	.	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.997	D;D;D;D	0.77557	0.986;0.99;0.923;0.986	T	0.63047	-0.6724	10	0.52906	T	0.07	-16.4836	19.5116	0.95144	0.0:0.0:1.0:0.0	.	576;615;576;576	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	L	576;615;576;576	ENSP00000327077:R576L;ENSP00000428131:R615L;ENSP00000431099:R576L;ENSP00000430521:R576L	ENSP00000327077:R576L	R	+	2	0	PCM1	17859133	1.000000	0.71417	0.561000	0.28357	0.360000	0.29518	8.857000	0.92250	2.787000	0.95880	0.585000	0.79938	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	1	0	0	21	512	0	84	0	2.891131e-01	0	26	0	84	2		0	0	0	0	0	2	1	0.999997	21	506	0	84	2		0	0	0	0	84	2	-2.849753	1	1	0	0		1	0	3	3	1.948911	1	0.190000	3.530000	0.260274	0.450000	0.290000	0.670000	0.450000	0.471456	0.450000	0	0.360000	0.570000
RB1CC1	9821	broad.mit.edu	37	8	53558288	53558288	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:53558288G>T	ENST00000025008.5	-	16	4484	c.3961C>A	c.(3961-3963)Cga>Aga	p.R1321R	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.R1321R|RB1CC1_ENST00000435644.2_Silent_p.R1321R	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1			60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)			AAAGATGTTCGAACATTTTGC	0.313000													GBM(180;1701 2102 13475 42023 52570)											0							SO:0001819	synonymous_variant			ENST00000025008.5	1	0	hg19	CCDS34892.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	1	0	0	23	397	0	63	0	8.377993e-01	0	59	0	63	2		0	0	0	0	0	2	1	0.999999	23	395	0	63	2		0	0	0	0	63	2	-5.842960	1	0	0	0		1	2	3	5	2.222887	1	0.190000	3.530000	0.366841	0.750000	0.480000	1.000000	1.000000	0.759499	0.750000	0	0.600000	0.920000
C8orf34	116328	broad.mit.edu	37	8	69552683	69552683	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:69552683G>A	ENST00000539993.1	+	8	1469	c.920G>A	c.(919-921)cGt>cAt	p.R307H	C8orf34_ENST00000337103.4_Missense_Mutation_p.R282H|C8orf34_ENST00000518698.1_Missense_Mutation_p.R393H|C8orf34_ENST00000325233.3_Missense_Mutation_p.R51H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34			36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		AACCAAGGCCGTCCTACTTAC	0.413000																								0							SO:0001583	missense			ENST00000539993.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	26.0	4.691944	0.88735	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.63913	0.66;0.71;0.7;-0.07	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	L	0.56769	1.78	0.52099	D	0.999942	D	0.89917	1.0	D	0.83275	0.996	T	0.75158	-0.3416	9	.	.	.	-10.9267	19.3134	0.94202	0.0:0.0:1.0:0.0	.	307	Q49A92	CH034_HUMAN	H	393;307;282;51	ENSP00000427820:R393H;ENSP00000438159:R307H;ENSP00000337174:R282H;ENSP00000319532:R51H	.	R	+	2	0	C8orf34	69715237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.376000	0.97181	2.567000	0.86603	0.585000	0.79938	CGT		TCGA-XN-A8T3-01A-11D-A36O-08	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	0	39	462	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1.000000	38	460	0	82	2		0	0	0	0	83	2	-3.318793	1	1	121404	5	38	1	2	3	5	2.222887	1	0.190000	3.530000	0.366841	0.990000	0.760000	1.000000	1.000000	0.964698	0.990000	1	0.900000	1.000000
OR2K2	26248	broad.mit.edu	37	9	114090194	114090194	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:114090194C>A	ENST00000374428.1	-	1	606	c.607G>T	c.(607-609)Gat>Tat	p.D203Y	OR2K2_ENST00000302681.1_Missense_Mutation_p.D174Y			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2			20					GTGAAGTGATCGATGAGATTC	0.537000																								0							SO:0001583	missense			ENST00000374428.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	C	10.85	1.467826	0.26335	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00193	8.58;8.58	4.92	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.361129	0.19488	U	0.113053	T	0.00412	0.0013	M	0.71920	2.185	0.09310	N	1	D	0.71674	0.998	D	0.67900	0.954	T	0.47100	-0.9143	10	0.72032	D	0.01	.	7.2851	0.26333	0.0:0.6995:0.1395:0.161	.	203	Q8NGT1	OR2K2_HUMAN	Y	174;203	ENSP00000305055:D174Y;ENSP00000363550:D203Y	ENSP00000305055:D174Y	D	-	1	0	OR2K2	113130015	0.000000	0.05858	0.082000	0.20525	0.386000	0.30323	-0.200000	0.09478	0.350000	0.24002	0.591000	0.81541	GAT		TCGA-XN-A8T3-01A-11D-A36O-08	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	13	351	0	82	0	4.505699e-03	0	3	0	82	2		0	0	0	0	0	2	1	0.999503	13	345	0	81	2		0	0	0	0	82	2	-3.235573	1	1	0	0		1	3	4	7	2.239264	1	0.190000	3.530000	0.369650	0.550000	0.280000	1.000000	0.500000	0.627595	0.550000	0	0.390000	1.000000
RABGAP1	23637	broad.mit.edu	37	9	125861826	125861826	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:125861826C>A	ENST00000373647.4	+	24	3021	c.2887C>A	c.(2887-2889)Cgg>Agg	p.R963R	RABGAP1_ENST00000373643.5_Silent_p.R302R	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	p.R963W(1)|p.R891W(1)		41					TGAGAAAATTCGGGTAAGACT	0.353000																								2	Substitution - Missense(2)						SO:0001819	synonymous_variant			ENST00000373647.4	1	0	hg19	CCDS6848.2																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	1	0	0	15	327	0	60	0	9.602939e-01	0	120	0	60	2		0	0	0	0	0	2	1	0.999883	15	328	0	60	2		0	0	0	0	60	2	-3.082850	1	1	0	0		1	3	3	6	2.263265	1	0.190000	3.530000	0.377019	0.650000	0.360000	1.000000	0.610000	0.690100	0.650000	0	0.490000	1.000000
DENND1A	57706	broad.mit.edu	37	9	126146178	126146178	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:126146178C>A	ENST00000373624.2	-	21	1793	c.1592G>T	c.(1591-1593)cGg>cTg	p.R531L	DENND1A_ENST00000542603.1_Missense_Mutation_p.R316L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.R542L	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A			43					CCTGAGTGTCCGATACGGCTG	0.662000																								0							SO:0001583	missense			ENST00000373624.2	0	1	hg19	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290799	0.40494	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.30714	3.13;1.52;2.83	4.89	4.89	0.63831	.	0.188343	0.45361	D	0.000366	T	0.51822	0.1697	M	0.72118	2.19	0.80722	D	1	P;P;P;D	0.65815	0.738;0.612;0.478;0.995	B;B;B;P	0.59357	0.38;0.253;0.129;0.856	T	0.52373	-0.8584	10	0.41790	T	0.15	-6.3349	18.1242	0.89581	0.0:1.0:0.0:0.0	.	542;532;531;394	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	L	531;316;542	ENSP00000362727:R531L;ENSP00000437457:R316L;ENSP00000377766:R542L	ENSP00000362727:R531L	R	-	2	0	DENND1A	125185999	1.000000	0.71417	0.972000	0.41901	0.158000	0.22134	1.211000	0.32382	2.265000	0.75225	0.555000	0.69702	CGG		TCGA-XN-A8T3-01A-11D-A36O-08	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	0	0	0	8	508	0	107	0	7.808229e-02	0	26	0	107	2		0	0	0	0	0	2	1	0.984078	8	457	0	93	2		0	0	0	0	107	2	-2.643874	1	1	0	0		1	3	3	6	2.263265	1	0.190000	3.530000	0.377019	0.240000	0.100000	1.000000	0.210000	0.357247	0.240000	0	0.160000	0.510000
LCN8	138307	broad.mit.edu	37	9	139650984	139650984	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:139650984G>T	ENST00000371688.3	-	3	511	c.216C>A	c.(214-216)ttC>ttA	p.F72L	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8			10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)			CAGGAAAAGCGAATTTTCCCG	0.517000																								0							SO:0001583	missense			ENST00000371688.3	1	0	hg19	CCDS35183.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281328	0.40394	.	.	ENSG00000204001	ENST00000371688	T	0.14391	2.51	3.55	-7.1	0.01547	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.29423	0.0733	M	0.62723	1.935	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.992	T	0.32188	-0.9916	9	0.72032	D	0.01	.	13.594	0.61978	0.2986:0.0:0.7014:0.0	.	95;72	Q6JVE9;Q6JVE9-2	LCN8_HUMAN;.	L	72	ENSP00000360753:F72L	ENSP00000360753:F72L	F	-	3	2	LCN8	138770805	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.446000	0.06837	-1.525000	0.01762	-1.564000	0.00881	TTC		TCGA-XN-A8T3-01A-11D-A36O-08	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055109.1	1	0	0	22	503	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	0.999999	22	496	0	87	2		0	0	0	0	87	2	-3.674093	1	1	0	0		1	2	3	5	2.276796	1	0.190000	3.530000	0.369650	0.570000	0.360000	0.830000	0.550000	0.588294	0.570000	0	0.460000	0.700000
RNF38	152006	broad.mit.edu	37	9	36339793	36339793	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:36339793T>C	ENST00000259605.6	-	12	1611	c.1504A>G	c.(1504-1506)Att>Gtt	p.I502V	RNF38_ENST00000377885.2_Missense_Mutation_p.I419V|RNF38_ENST00000350199.4_Missense_Mutation_p.I419V|RNF38_ENST00000353739.4_Missense_Mutation_p.I452V|RNF38_ENST00000357058.3_Missense_Mutation_p.I419V|RNF38_ENST00000377877.4_Missense_Mutation_p.I426V	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38			11			STAD - Stomach adenocarcinoma(86;0.228)		GCTCGGCAAATTGGGCAAGTA	0.378000																								0							SO:0001583	missense			ENST00000259605.6	1	1	hg19	CCDS6603.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	14.75	2.629377	0.46944	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.55	5.55	0.83447	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	N	0.03948	-0.315	0.80722	D	1	P;B;P	0.48911	0.917;0.124;0.904	D;B;D	0.64321	0.924;0.344;0.924	T	0.52275	-0.8597	10	0.48119	T	0.1	-7.5111	13.6403	0.62246	0.0:0.0:0.0:1.0	.	426;452;502	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	V	502;452;419;419;419;319;426;426	ENSP00000259605:I502V;ENSP00000335239:I452V;ENSP00000367117:I419V;ENSP00000349566:I419V;ENSP00000343947:I419V;ENSP00000367109:I426V	ENSP00000259605:I502V	I	-	1	0	RNF38	36329793	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.381000	0.79718	2.096000	0.63516	0.533000	0.62120	ATT		TCGA-XN-A8T3-01A-11D-A36O-08	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	1	0	1	47	214	0	36	1	9.504272e-01	4	21	0	36	2		0	0	0	0	0	2	1	1.000000	47	212	0	36	2		0	0	0	0	36	2	-20.000000	1	1	121408	3	33	1	3	4	7	2.239264	1	0.190000	3.530000	0.369650	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MAMDC2	256691	broad.mit.edu	37	9	72785470	72785470	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:72785470G>A	ENST00000377182.4	+	11	2191	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000420573.1_RNA|MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2			14					AAAAGAAACCGGAGCAGCTGG	0.498000																								0							SO:0001583	missense			ENST00000377182.4	0	1	hg19	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995045	0.74703	.	.	ENSG00000165072	ENST00000377182	T	0.01963	4.53	5.25	4.33	0.51752	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.500904	0.21233	N	0.077953	T	0.02767	0.0083	N	0.16478	0.41	0.43118	D	0.994837	P	0.40602	0.723	B	0.44315	0.446	T	0.67799	-0.5577	10	0.25106	T	0.35	-12.7011	15.9892	0.80188	0.0:0.1352:0.8648:0.0	.	525	Q7Z304	MAMC2_HUMAN	Q	525	ENSP00000366387:R525Q	ENSP00000366387:R525Q	R	+	2	0	MAMDC2	71975290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.458000	0.66679	1.297000	0.44761	0.491000	0.48974	CGG		TCGA-XN-A8T3-01A-11D-A36O-08	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	0	0	0	6	384	0	66	0	1.442244e-02	0	10	0	66	2		0	0	0	0	0	2	1	0.963260	6	378	0	65	2		0	0	0	0	66	2	-3.249916	1	1	0	0		1	3	4	7	2.239264	1	0.190000	3.530000	0.369650	0.260000	0.090000	1.000000	0.200000	0.416974	0.260000	0	0.150000	1.000000
OSTF1	26578	broad.mit.edu	37	9	77761608	77761608	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:77761608G>T	ENST00000346234.6	+	10	746	c.596G>T	c.(595-597)cGa>cTa	p.R199L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1			2					GATGCAGTTCGAACATTAAGC	0.343000																								0							SO:0001583	missense			ENST00000346234.6	1	0	hg19	CCDS6651.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208427	0.79240	.	.	ENSG00000134996	ENST00000346234	T	0.46063	0.88	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.63428	1.95	0.80722	D	1	B;D	0.60160	0.234;0.987	B;D	0.65010	0.039;0.931	T	0.61292	-0.7092	10	0.56958	D	0.05	-12.0759	18.9168	0.92508	0.0:0.0:1.0:0.0	.	199;199	A8K646;Q92882	.;OSTF1_HUMAN	L	199	ENSP00000340836:R199L	ENSP00000340836:R199L	R	+	2	0	OSTF1	76951428	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.005000	0.70716	2.748000	0.94277	0.650000	0.86243	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052704.1	1	0	0	26	536	0	91	0	9.998741e-01	0	287	0	91	2		0	0	0	0	0	2	1	1.000000	26	527	0	90	2		0	0	0	0	91	2	-2.918079	1	1	121412	1	34	1	3	4	7	2.239264	1	0.190000	3.530000	0.369650	0.680000	0.430000	1.000000	0.610000	0.727714	0.680000	0	0.530000	1.000000
LUZP4	51213	broad.mit.edu	37	X	114540856	114540856	+	Silent	SNP	G	G	A	rs148942179		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:114540856G>A	ENST00000371920.3	+	4	436	c.429G>A	c.(427-429)ccG>ccA	p.P143P	LUZP4_ENST00000451986.2_Silent_p.P61P	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4			14					AAGGAAATCCGGACAAATCAG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000371920.3	1	1	hg19	CCDS14567.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	1	0	1	37	166	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1.000000	37	162	0	35	2		0	0	0	0	35	2	-2.987853	1	1	121410	5	39	1	0	1	1			0.190000	3.530000	0.190000	0.880000	0.670000	1.000000	0.940000	0.874520	0.880000	1	0.770000	0.970000
SLITRK4	139065	broad.mit.edu	37	X	142716900	142716900	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:142716900G>T	ENST00000381779.4	-	2	2250	c.2025C>A	c.(2023-2025)acC>acA	p.T675T	SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4			60	Acute lymphoblastic leukemia(192;6.56e-05)				CTTTTTTATTGGTTTTGTGGT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000381779.4	0	1	hg19	CCDS14679.1																																																																																				TCGA-XN-A8T3-01A-11D-A36O-08	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	0	0	0	9	410	0	102	0	8.569361e-03	0	6	0	102	2		0	0	0	0	0	2	1	0.993945	9	405	0	100	2		0	0	0	0	102	2	-2.414136	0	1	0	0		1	0	1	1			0.190000	3.530000	0.190000	0.110000	0.050000	0.200000	0.110000	0.123739	0.110000	0	0.080000	0.160000
SCML1	6322	broad.mit.edu	37	X	17767568	17767568	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:17767568C>A	ENST00000380041.3	+	5	575	c.247C>A	c.(247-249)Cgt>Agt	p.R83S	SCML1_ENST00000380043.3_Missense_Mutation_p.R56S|SCML1_ENST00000398080.1_5'UTR|SCML1_ENST00000380045.3_5'UTR	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)			10	Hepatocellular(33;0.183)				TGATGTGATTCGTAGAAAGGT	0.303000																								0							SO:0001583	missense			ENST00000380041.3	1	0	hg19	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949167	0.34377	.	.	ENSG00000047634	ENST00000380041;ENST00000380043;ENST00000419185	.	.	.	4.96	-1.83	0.07833	.	1.225180	0.05738	N	0.600913	T	0.15825	0.0381	N	0.03608	-0.345	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.25745	-1.0123	9	0.18710	T	0.47	-9.9658	8.3928	0.32540	0.4512:0.3997:0.1491:0.0	.	56;83	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	S	83;56;56	.	ENSP00000369380:R83S	R	+	1	0	SCML1	17677489	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.395000	0.07287	-0.672000	0.05266	-1.059000	0.02297	CGT		TCGA-XN-A8T3-01A-11D-A36O-08	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	1	0	0	12	193	0	41	0	2.666017e-01	0	16	0	41	2		0	0	0	0	0	2	1	0.999127	11	191	0	40	2		0	0	0	0	41	2	-3.138427	1	1	0	0		1	0	1	1			0.190000	3.530000	0.190000	0.310000	0.170000	0.500000	0.300000	0.323693	0.310000	0	0.230000	0.410000
STS	412	broad.mit.edu	37	X	7268006	7268006	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:7268006G>A	ENST00000217961.4	+	10	1676	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S			27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)		Norelgestromin(DB06713)	TGCCACACACGTGTGCTTCTG	0.488000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000217961.4	1	1	hg19	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928468	0.34002	.	.	ENSG00000101846	ENST00000217961	D	0.91068	-2.78	4.22	4.22	0.49857	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.186047	0.33023	N	0.005369	D	0.91432	0.7296	M	0.85630	2.765	0.35164	D	0.770921	P	0.51147	0.942	B	0.43301	0.415	D	0.94820	0.7986	10	0.49607	T	0.09	.	14.6151	0.68541	0.0:0.0:1.0:0.0	.	486	P08842	STS_HUMAN	M	486	ENSP00000217961:V486M	ENSP00000217961:V486M	V	+	1	0	STS	7278006	0.997000	0.39634	0.494000	0.27515	0.029000	0.11900	2.447000	0.44917	1.720000	0.51447	0.600000	0.82982	GTG		TCGA-XN-A8T3-01A-11D-A36O-08	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	1	0	1	50	263	0	61	0	8.288955e-01	1	18	0	61	2		0	0	0	0	0	2	1	1.000000	48	261	0	61	2		0	0	0	0	61	2	-20.000000	1	1	0	0		1	0	1	1			0.190000	3.530000	0.190000	0.820000	0.630000	0.980000	0.830000	0.823812	0.820000	0	0.720000	0.920000
DIAPH2	1730	broad.mit.edu	37	X	96013193	96013193	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:96013193G>T	ENST00000324765.8	+	4	730	c.383G>T	c.(382-384)cGa>cTa	p.R128L	DIAPH2_ENST00000355827.4_Missense_Mutation_p.R128L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R128L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R117L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R128L			O60879	DIAP2_HUMAN	diaphanous-related formin 2			51					GCTCCTTTACGAAACAAAGAC	0.383000																								0							SO:0001583	missense			ENST00000324765.8	1	0	hg19	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760417	0.69763	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	5.73	4.87	0.63330	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.49305	D	0.000141	D	0.89546	0.6746	L	0.55103	1.725	0.46927	D	0.999257	D;P;D	0.89917	1.0;0.951;0.999	D;B;D	0.91635	0.999;0.438;0.997	D	0.86292	0.1674	10	0.02654	T	1	.	13.361	0.60657	0.0783:0.0:0.9217:0.0	.	128;128;128	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	L	128;117;128;128;128;128	ENSP00000362152:R128L;ENSP00000362145:R117L;ENSP00000348082:R128L;ENSP00000362140:R128L;ENSP00000321348:R128L	ENSP00000321348:R128L	R	+	2	0	DIAPH2	95899849	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.239000	0.95389	1.175000	0.42826	0.600000	0.82982	CGA		TCGA-XN-A8T3-01A-11D-A36O-08	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	1	0	0	20	241	0	40	0	1.880924e-01	0	10	0	40	2		0	0	0	0	0	2	1	0.999995	19	238	0	39	2		0	0	0	0	40	2	-3.318788	1	1	0	0		1	0	1	1			0.190000	3.530000	0.190000	0.400000	0.250000	0.580000	0.400000	0.413412	0.400000	0	0.320000	0.500000
