Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
TP53	7157	broad.mit.edu	37	17	7578373	7578373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:7578373delT	ENST00000269305.4	-	5	746	c.557delA	c.(556-558)gatfs	p.D186fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs	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.0?(8)|p.?(2)|p.V173fs*59(2)|p.D186_P191delDGLAPP(1)|p.D186V(1)|p.D186G(1)|p.S185_D186delSD(1)|p.D186fs*22(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CTGCTCACCATCGCTATCTGA	0.642000		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	17	Whole gene deletion(8)|Deletion - Frameshift(3)|Substitution - Missense(2)|Deletion - In frame(2)|Unknown(2)						SO:0001589	frameshift_variant	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	101	224	0	53	1	9.907415e-01	2	17	0	53	2	1	1	166	425	0	611	2	1	1.000000	100	223	0	53	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.673999	1	0.570000	1.860000	0.398601	0.770000	6.500000e-01	0.900000	0.780000	0.778834	0.770000	0	7.000000e-01	0.840000
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene		CCDC6/RET(4)|KIF5B/RET(79)	607		Ovarian(717;0.0423)		Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGGACCTTGCGGCGTCCACT	0.557000		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0							SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	ENST00000355710.3	0	1	hg19	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG		TCGA-US-A779-01A-11D-A32N-08	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	0	0	0	7	1199	0	250	0	4.929913e-05	0	2	0	250	2		0	0	0	0	0	2	1	0.979447	7	1179	0	248	2		0	0	0	0	250	2	-1.898043	0	1	0	0		1	0	0	0	2.036303	0	0.570000	1.860000	0.559967	0.010000	0	0.040000	0.020000	0.021732	0.010000	0	0	0.030000
PRDM11	56981	broad.mit.edu	37	11	45246062	45246062	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:45246062C>A	ENST00000530656.1	+	7	1139	c.1139C>A	c.(1138-1140)gCa>gAa	p.A380E	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A346E|PRDM11_ENST00000263765.4_Missense_Mutation_p.A380E			Q9NQV5	PRD11_HUMAN	PR domain containing 11			26					AGTCAGTGTGCAACAACAATG	0.582000													NSCLC(118;1511 1736 6472 36603 43224)											0							SO:0001583	missense			ENST00000530656.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	3.853	-0.031534	0.07543	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.23950	1.88;1.88;1.9	5.41	2.37	0.29283	.	0.371038	0.22974	N	0.053384	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	P	0.41848	0.763	B	0.39840	0.311	T	0.10965	-1.0607	10	0.25751	T	0.34	-4.2871	4.8943	0.13742	0.1119:0.3303:0.4654:0.0924	.	380	Q9NQV5	PRD11_HUMAN	E	380;380;346	ENSP00000263765:A380E;ENSP00000435976:A380E;ENSP00000394314:A346E	ENSP00000263765:A380E	A	+	2	0	PRDM11	45202638	0.994000	0.37717	0.003000	0.11579	0.009000	0.06853	3.098000	0.50259	0.656000	0.30886	-0.259000	0.10710	GCA		TCGA-US-A779-01A-11D-A32N-08	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	0	0	0	6	659	0	138	0	1.253099e-04	0	2	0	138	2		0	0	0	0	0	2	1	0.964596	7	655	0	138	2		0	0	0	0	138	2	-2.836805	1	1	0	0		1	0	0	0	2.087902	0	0.570000	1.860000	0.570000	0.030000	0	0.070000	0.040000	0.036200	0.030000	0	1.000000e-02	0.050000
TSGA10IP	254187	broad.mit.edu	37	11	65714436	65714436	+	RNA	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:65714436G>A	ENST00000532620.1	+	0	464				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein			14					AAGAAGGACCGCAAGCCCAGG	0.597000																								0											ENST00000532620.1	0	1	hg19																																																																																					TCGA-US-A779-01A-11D-A32N-08	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	0	0	0	4	251	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	0.888294	4	248	0	62	2		0	0	0	0	62	2	-3.063790	1	1	0	0		1	0	0	0	2.087902	0	0.570000	1.860000	0.570000	0.050000	1.000000e-02	0.130000	0.060000	0.067967	0.050000	0	3.000000e-02	0.100000
DPP3	10072	broad.mit.edu	37	11	66260292	66260292	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:66260292A>T	ENST00000360510.2	+	10	1159	c.1094A>T	c.(1093-1095)aAg>aTg	p.K365M	DPP3_ENST00000453114.1_Missense_Mutation_p.K365M|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000532677.1_Missense_Mutation_p.K384M|DPP3_ENST00000530165.1_Missense_Mutation_p.K335M|DPP3_ENST00000541961.1_Missense_Mutation_p.K365M|DPP3_ENST00000531863.1_Missense_Mutation_p.K385M			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3			23					ACCTTTGAGAAGGACAAGTTC	0.597000																								0							SO:0001583	missense			ENST00000360510.2	0	1	hg19	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816240	0.90790	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.41	5.41	0.78517	.	0.094343	0.64402	D	0.000001	T	0.62060	0.2397	M	0.90082	3.085	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.70733	-0.4791	10	0.87932	D	0	.	13.4157	0.60968	1.0:0.0:0.0:0.0	.	384;365	G3V1D3;Q9NY33	.;DPP3_HUMAN	M	385;384;365;365;365;335;263	ENSP00000432782:K385M;ENSP00000435284:K384M;ENSP00000353701:K365M;ENSP00000389943:K365M;ENSP00000440502:K365M;ENSP00000436941:K335M	ENSP00000353701:K365M	K	+	2	0	DPP3	66016868	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.519000	0.90563	2.052000	0.61016	0.533000	0.62120	AAG		TCGA-US-A779-01A-11D-A32N-08	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	0	0	0	6	569	0	131	0	4.775254e-01	0	137	0	131	2		0	0	0	0	0	2	1	0.962365	2	559	0	130	2		0	0	0	0	131	2	-5.235396	1	0	0	0		1	0	0	0	2.087902	0	0.570000	1.860000	0.570000	0.030000	0	0.080000	0.040000	0.042279	0.030000	0	1.000000e-02	0.060000
EPS8L2	64787	broad.mit.edu	37	11	722431	722431	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:722431G>A	ENST00000533256.1	+	14	1465	c.1090G>A	c.(1090-1092)Gca>Aca	p.A364T	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A380T|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A364T|EPS8L2_ENST00000318562.8_Missense_Mutation_p.A364T			Q9H6S3	ES8L2_HUMAN	EPS8-like 2			13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)			CCCAGACATCGCACGCTCCGT	0.647000																								0							SO:0001583	missense			ENST00000533256.1	0	1	hg19	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.992138	0.35131	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	3.13	2.2	0.27929	.	0.089102	0.43919	U	0.000514	T	0.67896	0.2942	M	0.69823	2.125	0.09310	N	1	D;D	0.89917	0.999;1.0	P;P	0.61275	0.886;0.87	T	0.59225	-0.7494	10	0.87932	D	0	-11.1368	9.2022	0.37265	0.1144:0.0:0.8856:0.0	.	380;364	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	T	364;364;364;380	ENSP00000320828:A364T;ENSP00000435585:A364T;ENSP00000436035:A364T;ENSP00000436230:A380T	ENSP00000320828:A364T	A	+	1	0	EPS8L2	712431	0.964000	0.33143	0.005000	0.12908	0.689000	0.40095	3.519000	0.53458	0.664000	0.31047	0.486000	0.48141	GCA		TCGA-US-A779-01A-11D-A32N-08	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	0	0	0	5	260	0	51	0	9.708496e-01	0	345	0	51	2		0	0	0	0	0	2	1	0.933638	5	253	0	50	2		0	0	0	0	51	2	-3.939549	1	1	121404	4	35	1	0	1	1	2.073679	0	0.570000	1.860000	0.568771	0.060000	2.000000e-02	0.150000	0.060000	0.078401	0.060000	0	4.000000e-02	0.110000
FAT3	120114	broad.mit.edu	37	11	92599977	92599977	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:92599977G>A	ENST00000298047.6	+	21	11746	c.11729G>A	c.(11728-11730)cGt>cAt	p.R3910H	FAT3_ENST00000525166.1_Missense_Mutation_p.R3760H|FAT3_ENST00000533797.1_Missense_Mutation_p.R245H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	p.R3910L(2)|p.R485L(1)		85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			ATCTCGGGCCGTGCTGTCAAC	0.627000										TCGA Ovarian(4;0.039)														3	Substitution - Missense(3)						SO:0001583	missense			ENST00000298047.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.94	2.980435	0.53827	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.72755	0.3500	L	0.61387	1.9	0.80722	D	1	P;B	0.39831	0.69;0.039	B;B	0.30495	0.116;0.023	T	0.71407	-0.4602	9	0.15499	T	0.54	.	19.9934	0.97376	0.0:0.0:1.0:0.0	.	3910;3910	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3910;3910;3760;245	ENSP00000298047:R3910H;ENSP00000387040:R3910H;ENSP00000432586:R3760H;ENSP00000436399:R245H	ENSP00000298047:R3910H	R	+	2	0	FAT3	92239625	1.000000	0.71417	0.964000	0.40570	0.724000	0.41520	6.323000	0.72891	2.732000	0.93576	0.561000	0.74099	CGT		TCGA-US-A779-01A-11D-A32N-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	45	131	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1.000000	45	131	0	39	2		0	0	0	0	40	2	-20.000000	1	1	120954	1	28	1	0	0	0	2.087902	0	0.570000	1.860000	0.570000	0.890000	6.800000e-01	1.000000	1.000000	0.889529	0.890000	1	7.800000e-01	1.000000
CNTN5	53942	broad.mit.edu	37	11	99872865	99872865	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:99872865G>A	ENST00000524871.1	+	9	1267	c.977G>A	c.(976-978)gGc>gAc	p.G326D	CNTN5_ENST00000528682.1_Missense_Mutation_p.G326D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G252D|CNTN5_ENST00000279463.3_Missense_Mutation_p.G326D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G326D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5			81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)			TTTGCACTTGGCAAGTAAGTA	0.358000																								0							SO:0001583	missense			ENST00000524871.1	0	1	hg19	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872029	0.91587	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94479	0.8223	H	0.98738	4.315	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	0.96454	0.9336	10	0.87932	D	0	.	18.779	0.91924	0.0:0.0:1.0:0.0	.	326;252;326	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	326;326;326;252;326	ENSP00000433575:G326D;ENSP00000436185:G326D;ENSP00000435637:G326D;ENSP00000393229:G252D;ENSP00000279463:G326D	ENSP00000279463:G326D	G	+	2	0	CNTN5	99378075	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.682000	0.91365	0.591000	0.81541	GGC		TCGA-US-A779-01A-11D-A32N-08	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	0	0	0	3	40	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	0.812630	3	40	0	8	2		0	0	0	0	8	2	-7.630658	1	1	0	0		1	0	0	0	2.087902	0	0.570000	1.860000	0.570000	0.270000	8.000000e-02	0.610000	0.240000	0.306508	0.270000	0	1.500000e-01	0.440000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	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-US-A779-01A-11D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	25	73	0	19	1	7.642343e-01	5	5	0	19	2	1	1	57	193	0	322	2	1	1.000000	25	73	0	19	2	1	1	2553	5479	0	19	2	-19.758050	1	1	121404	2	44	1	0	0	0	2.018561	0	0.570000	1.860000	0.554773	0.860000	5.900000e-01	1.000000	1.000000	0.856843	0.860000	1	7.200000e-01	1.000000
METTL7A	25840	broad.mit.edu	37	12	51319018	51319018	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:51319018C>T	ENST00000548553.1	+	2	1178	c.197C>T	c.(196-198)gCg>gTg	p.A66V	METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	p.A66V(1)		10					CAGGAGTTTGCGGGCCCCTCC	0.552000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000548553.1	0	1	hg19	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439444	0.25900	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.16597	2.33;2.33;2.33	5.0	-1.08	0.09936	.	0.852961	0.10781	N	0.634907	T	0.09598	0.0236	L	0.34521	1.04	0.09310	N	1	B;B	0.16802	0.017;0.019	B;B	0.12837	0.003;0.008	T	0.38993	-0.9635	10	0.20519	T	0.43	-1.5348	2.5233	0.04685	0.1123:0.4458:0.1094:0.3324	.	66;66	B4DDW1;Q9H8H3	.;MET7A_HUMAN	V	66	ENSP00000448785:A66V;ENSP00000450239:A66V;ENSP00000331787:A66V	ENSP00000331787:A66V	A	+	2	0	METTL7A	49605285	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	0.002000	0.13061	-0.304000	0.08843	-0.140000	0.14226	GCG		TCGA-US-A779-01A-11D-A32N-08	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	0	0	0	4	250	0	50	0	5.965211e-01	1	112	0	50	2		0	0	0	0	0	2	1	0.887331	4	246	0	50	2		0	0	0	0	50	2	-2.811091	1	1	0	0		1	0	0	0	2.018561	0	0.570000	1.860000	0.554773	0.050000	1.000000e-02	0.130000	0.060000	0.065929	0.050000	0	3.000000e-02	0.090000
LRRC10	376132	broad.mit.edu	37	12	70003865	70003865	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:70003865C>T	ENST00000361484.3	-	1	1077	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10			8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		TAGCGCCTGGCTTTTCTAGGG	0.582000																								0							SO:0001583	missense			ENST00000361484.3	1	1	hg19	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599545	0.28534	.	.	ENSG00000198812	ENST00000361484	T	0.58060	0.36	5.63	2.59	0.31030	.	0.485815	0.21421	N	0.074802	T	0.30135	0.0755	N	0.16478	0.41	0.27690	N	0.94614	B	0.06786	0.001	B	0.04013	0.001	T	0.14227	-1.0480	10	0.17832	T	0.49	.	7.034	0.24983	0.0:0.5914:0.1946:0.214	.	252	Q5BKY1	LRC10_HUMAN	T	252	ENSP00000355166:A252T	ENSP00000355166:A252T	A	-	1	0	LRRC10	68290132	0.993000	0.37304	0.998000	0.56505	0.930000	0.56654	1.083000	0.30815	0.823000	0.34589	0.561000	0.74099	GCC		TCGA-US-A779-01A-11D-A32N-08	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	1	0	1	95	298	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1.000000	95	294	0	88	2		0	0	0	0	88	2	-20.000000	1	1	0	0		1	0	0	0	2.003645	0	0.570000	1.860000	0.552130	0.800000	6.700000e-01	0.950000	0.810000	0.816851	0.800000	0	7.300000e-01	0.890000
GPR18	2841	broad.mit.edu	37	13	99907388	99907388	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr13:99907388G>A	ENST00000340807.3	-	3	1295	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	GPR18_ENST00000397470.2_Missense_Mutation_p.P247S|GPR18_ENST00000397473.2_Missense_Mutation_p.P247S|UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18			10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)			Glycine(DB00145)	ATGTGGAAGGGCATAAAGCAG	0.527000																								0							SO:0001583	missense			ENST00000340807.3	0	1	hg19	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722418	0.89298	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.80304	-1.36;-1.36;-1.36	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92143	0.7509	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92507	0.6013	9	.	.	.	-21.4099	20.2187	0.98312	0.0:0.0:1.0:0.0	.	247	Q14330	GPR18_HUMAN	S	247	ENSP00000380613:P247S;ENSP00000380610:P247S;ENSP00000343428:P247S	.	P	-	1	0	GPR18	98705389	1.000000	0.71417	0.904000	0.35570	0.964000	0.63967	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	CCC		TCGA-US-A779-01A-11D-A32N-08	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1	0	0	0	5	421	0	105	0	0	0	1	0	105	2		0	0	0	0	0	2	1	0.937114	5	419	0	105	2		0	0	0	0	105	2	-2.144067	0	1	0	0		1	1	2	3	2.107508	0	0.570000	1.860000	0.572437	0.040000	0	0.100000	0.040000	0.058526	0.040000	0	2.000000e-02	0.070000
NYNRIN	57523	broad.mit.edu	37	14	24877207	24877207	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:24877207G>T	ENST00000382554.3	+	3	649	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					TGCCTACCTGGTGCCTGGCCC	0.642000																								0							SO:0001583	missense			ENST00000382554.3	1	1	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375905	0.61735	.	.	ENSG00000205978	ENST00000382554	T	0.12255	2.7	4.82	4.82	0.62117	.	0.830019	0.09626	N	0.776903	T	0.18130	0.0435	M	0.65975	2.015	0.24216	N	0.995458	B	0.21520	0.057	B	0.17979	0.02	T	0.08638	-1.0712	10	0.87932	D	0	.	8.9155	0.35579	0.0986:0.0:0.9014:0.0	.	111	Q9P2P1	NYNRI_HUMAN	L	111	ENSP00000371994:V111L	ENSP00000371994:V111L	V	+	1	0	NYNRIN	23947047	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.690000	0.54713	2.503000	0.84419	0.655000	0.94253	GTG		TCGA-US-A779-01A-11D-A32N-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1	138	342	0	105	1	5.533697e-01	4	2	0	105	2		0	0	0	0	0	2	1	1.000000	138	340	0	105	2		0	0	0	0	105	2	-20.000000	1	1	0	0		1	0	0	0	2.070463	0	0.570000	1.860000	0.567535	0.990000	8.600000e-01	1.000000	1.000000	0.973416	0.990000	1	9.200000e-01	1.000000
ADAM20	8748	broad.mit.edu	37	14	70991279	70991279	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:70991279G>A	ENST00000256389.3	-	2	590	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20			27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)		CCCCCAAACCGCAGGCTATAG	0.527000																								0							SO:0001583	missense			ENST00000256389.3	0	1	hg19	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	2.877	-0.232779	0.05983	.	.	ENSG00000134007	ENST00000256389	T	0.07216	3.21	4.14	-1.25	0.09405	Peptidase M12B, propeptide (1);	0.844512	0.09575	U	0.783660	T	0.07369	0.0186	L	0.54323	1.7	0.09310	N	1	B	0.26602	0.154	B	0.24269	0.052	T	0.40794	-0.9544	10	0.59425	D	0.04	.	1.3442	0.02160	0.2309:0.1227:0.4097:0.2367	.	66	O43506	ADA20_HUMAN	W	116	ENSP00000256389:R116W	ENSP00000256389:R116W	R	-	1	2	ADAM20	70061032	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.996000	0.03709	-0.123000	0.11745	0.650000	0.86243	CGG		TCGA-US-A779-01A-11D-A32N-08	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2	0	0	0	5	354	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	0.934678	6	346	0	74	2		0	0	0	0	75	2	-2.594234	1	1	121402	7	41	1	0	0	0	2.070463	0	0.570000	1.860000	0.567535	0.040000	1.000000e-02	0.110000	0.050000	0.057814	0.040000	0	2.000000e-02	0.080000
LTBP2	4053	broad.mit.edu	37	14	74969572	74969572	+	Missense_Mutation	SNP	G	G	A	rs142182623		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74969572G>A	ENST00000261978.4	-	34	5340	c.4954C>T	c.(4954-4956)Cgg>Tgg	p.R1652W	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1608W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2			58					TAGCCTGGCCGGAAGTGGACC	0.632000																								0							SO:0001583	missense			ENST00000261978.4	0	1	hg19	CCDS9831.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	21.4	4.148204	0.78001	4.54E-4	0.0	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.79141	-1.24;-1.24	5.04	5.04	0.67666	.	0.000000	0.38217	N	0.001768	T	0.81039	0.4740	L	0.32530	0.975	0.38329	D	0.943745	D	0.89917	1.0	D	0.91635	0.999	T	0.83233	-0.0062	10	0.66056	D	0.02	.	11.1565	0.48491	0.0:0.0:0.7663:0.2337	.	1652	Q14767	LTBP2_HUMAN	W	1652;1608	ENSP00000261978:R1652W;ENSP00000451477:R1608W	ENSP00000261978:R1652W	R	-	1	2	LTBP2	74039325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.443000	0.59994	2.610000	0.88304	0.561000	0.74099	CGG		TCGA-US-A779-01A-11D-A32N-08	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	0	0	0	5	464	0	98	0	4.403375e-02	0	25	0	98	2		0	0	0	0	0	2	1	0.936438	6	459	0	97	2		0	0	0	0	98	2	-2.763280	1	1	121412	13	42	1	0	0	0	2.070463	0	0.570000	1.860000	0.567535	0.030000	0	0.080000	0.040000	0.044107	0.030000	0	1.000000e-02	0.060000
LTBP2	4053	broad.mit.edu	37	14	74988701	74988701	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74988701G>A	ENST00000261978.4	-	17	3087	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	LTBP2_ENST00000556690.1_Missense_Mutation_p.R901C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2			58					TTGATGCAGCGCCCTTTTCCC	0.622000																								0							SO:0001583	missense			ENST00000261978.4	1	1	hg19	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840149	0.71488	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.22336	1.96;1.96	3.99	3.99	0.46301	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.184414	0.26525	N	0.023890	T	0.47710	0.1460	M	0.86864	2.845	0.50467	D	0.999877	D	0.76494	0.999	P	0.62740	0.906	T	0.55970	-0.8056	10	0.52906	T	0.07	.	13.9681	0.64221	0.0:0.0:1.0:0.0	.	901	Q14767	LTBP2_HUMAN	C	901	ENSP00000261978:R901C;ENSP00000451477:R901C	ENSP00000261978:R901C	R	-	1	0	LTBP2	74058454	0.999000	0.42202	0.944000	0.38274	0.649000	0.38597	7.347000	0.79356	2.214000	0.71695	0.462000	0.41574	CGC		TCGA-US-A779-01A-11D-A32N-08	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	1	0	0	14	134	0	28	0	2.650262e-01	1	9	0	28	2		0	0	0	0	0	2	1	0.999772	13	132	0	28	2		0	0	0	0	28	2	-19.799490	1	1	121400	3	31	1	0	0	0	2.070463	0	0.570000	1.860000	0.567535	0.330000	1.900000e-01	0.510000	0.320000	0.347093	0.330000	0	2.500000e-01	0.430000
TRIP11	9321	broad.mit.edu	37	14	92470800	92470800	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470800C>G	ENST00000267622.4	-	11	3893	c.3520G>C	c.(3520-3522)Gat>Cat	p.D1174H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11			58					CTTAGTGCATCTATTTCGATG	0.348000			T	PDGFRB	AML								Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0							SO:0001583	missense			ENST00000267622.4	0	1	hg19	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.784471|2.784471	0.49997|0.49997	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.07800|.	3.16|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59742|0.59742	0.2216|0.2216	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.54721|0.54721	-0.8251|-0.8251	10|5	0.72032|.	D|.	0.01|.	.|.	18.8762|18.8762	0.92337|0.92337	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	910;1174|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	H|T	1174;910|889	ENSP00000267622:D1174H|.	ENSP00000267622:D1174H|.	D|R	-|-	1|2	0|0	TRIP11|TRIP11	91540553|91540553	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.341000|0.341000	0.28922|0.28922	6.025000|6.025000	0.70864|0.70864	2.447000|2.447000	0.82792|0.82792	0.557000|0.557000	0.71058|0.71058	GAT|AGA		TCGA-US-A779-01A-11D-A32N-08	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1	0	0	0	9	235	0	49	0	2.385097e-02	0	6	0	49	2		0	0	0	0	0	2	1	0.994468	9	235	0	49	2		0	0	0	0	49	2	-4.009418	1	1	0	0		1	0	0	0	2.070463	0	0.570000	1.860000	0.567535	0.130000	6.000000e-02	0.230000	0.130000	0.141378	0.130000	0	9.000000e-02	0.180000
TRIP11	9321	broad.mit.edu	37	14	92470905	92470905	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470905C>T	ENST00000267622.4	-	11	3788	c.3415G>A	c.(3415-3417)Gaa>Aaa	p.E1139K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11			58					TTTTTATTTTCATCTTGCAGT	0.338000			T	PDGFRB	AML								Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0							SO:0001583	missense			ENST00000267622.4	0	1	hg19	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785706	0.49997	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.07444	3.19	5.27	4.36	0.52297	.	0.167607	0.51477	D	0.000096	T	0.19725	0.0474	L	0.34521	1.04	0.50632	D	0.999884	D;D	0.89917	1.0;1.0	D;D	0.91635	0.982;0.999	T	0.01156	-1.1434	10	0.62326	D	0.03	.	15.583	0.76459	0.0:0.8616:0.1384:0.0	.	875;1139	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	1139;875	ENSP00000267622:E1139K	ENSP00000267622:E1139K	E	-	1	0	TRIP11	91540658	1.000000	0.71417	0.729000	0.30791	0.253000	0.25986	7.773000	0.85462	1.158000	0.42547	0.563000	0.77884	GAA		TCGA-US-A779-01A-11D-A32N-08	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1	0	0	0	4	113	0	25	0	1.869489e-02	0	5	0	25	2		0	0	0	0	0	2	1	0.891652	4	113	0	24	2		0	0	0	0	25	2	-7.131868	1	0	0	0		1	0	0	0	2.070463	0	0.570000	1.860000	0.567535	0.130000	4.000000e-02	0.280000	0.120000	0.145638	0.130000	0	7.000000e-02	0.200000
GLDN	342035	broad.mit.edu	37	15	51696848	51696848	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:51696848C>T	ENST00000335449.6	+	10	1609	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin			19					TCTGTTCTTGCCATGTTAGCA	0.378000																								0							SO:0001583	missense			ENST00000335449.6	0	1	hg19	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230301	0.95207	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.89123	-2.47;-2.47	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.43110	D	0.000613	D	0.92899	0.7741	L	0.46741	1.465	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.91752	0.5413	10	0.42905	T	0.14	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	518	Q6ZMI3	GLDN_HUMAN	V	518;394;394	ENSP00000335196:A518V;ENSP00000379681:A394V	ENSP00000335196:A518V	A	+	2	0	GLDN	49484140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.758000	0.94735	0.563000	0.77884	GCC		TCGA-US-A779-01A-11D-A32N-08	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	0	0	0	5	598	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	0.937228	5	596	0	112	2		0	0	0	0	112	2	-2.123722	0	1	0	0		1	0	0	0	2.040521	0	0.570000	1.860000	0.559967	0.020000	0	0.070000	0.030000	0.033324	0.020000	0	1.000000e-02	0.050000
SMG1	23049	broad.mit.edu	37	16	18858860	18858860	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:18858860G>A	ENST00000446231.2	-	38	6323	c.5911C>T	c.(5911-5913)Ctg>Ttg	p.L1971L	SMG1_ENST00000389467.3_Silent_p.L1971L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase			92					TGTTGTTGCAGCAAAACTCCC	0.493000																								0							SO:0001819	synonymous_variant			ENST00000446231.2	0	1	hg19	CCDS45430.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	0	0	0	7	400	0	79	0	2.493445e-03	0	4	0	79	2		0	0	0	0	0	2	1	0.980470	7	398	0	79	2		0	0	0	0	79	2	-2.587348	1	1	0	0		1	0	0	0	2.039218	0	0.570000	1.860000	0.559967	0.050000	2.000000e-02	0.120000	0.060000	0.066963	0.050000	0	3.000000e-02	0.090000
PAQR4	124222	broad.mit.edu	37	16	3021758	3021758	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3021758G>A	ENST00000318782.8	+	3	1061	c.631G>A	c.(631-633)Gca>Aca	p.A211T	PAQR4_ENST00000293978.8_Missense_Mutation_p.A172T|PAQR4_ENST00000572687.1_Missense_Mutation_p.A137T|PAQR4_ENST00000574988.1_Missense_Mutation_p.A144T|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Missense_Mutation_p.A144T|PKMYT1_ENST00000571102.1_5'Flank	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV			8					GCGCATGGACGCACTGGCGCT	0.657000																								0							SO:0001583	missense			ENST00000318782.8	0	1	hg19	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	g	11.42	1.633267	0.29068	.	.	ENSG00000162073	ENST00000318782;ENST00000293978	T;T	0.30714	1.52;1.53	4.81	4.81	0.61882	.	0.062180	0.64402	D	0.000007	T	0.38639	0.1048	M	0.64080	1.96	0.37162	D	0.902642	D;P;P	0.56521	0.976;0.78;0.919	P;B;B	0.48840	0.592;0.187;0.37	T	0.41088	-0.9528	10	0.23302	T	0.38	-10.4425	15.3988	0.74818	0.0:0.0:1.0:0.0	.	136;172;211	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	T	211;137	ENSP00000321804:A211T;ENSP00000293978:A137T	ENSP00000293978:A137T	A	+	1	0	PAQR4	2961759	0.995000	0.38212	0.120000	0.21714	0.698000	0.40448	3.970000	0.56824	2.220000	0.72140	0.457000	0.33378	GCA		TCGA-US-A779-01A-11D-A32N-08	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	0	0	0	5	368	0	85	0	1.782135e-01	0	47	0	85	2		0	0	0	0	0	2	1	0.936161	5	364	0	85	2		0	0	0	0	85	2	-2.926860	1	1	121360	8	41	1	0	0	0	2.039218	0	0.570000	1.860000	0.559967	0.040000	0	0.100000	0.040000	0.054687	0.040000	0	2.000000e-02	0.080000
MEFV	4210	broad.mit.edu	37	16	3299648	3299648	+	Missense_Mutation	SNP	C	C	T	rs104895198	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3299648C>T	ENST00000219596.1	-	3	1082	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	MEFV_ENST00000339854.4_Missense_Mutation_p.R168H|MEFV_ENST00000541159.1_Missense_Mutation_p.R137H|MEFV_ENST00000536379.1_Missense_Mutation_p.R137H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	p.R348H(1)		50					GCCAGGTGAGCGGCTGCCTGA	0.657000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000219596.1	1	1	hg19	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253552	0.10185	2.28E-4	3.49E-4	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64618	-0.11;0.32;0.22;0.33	4.11	-8.23	0.01033	.	2.533260	0.01059	N	0.004617	T	0.41971	0.1182	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.43410	-0.9393	10	0.33141	T	0.24	-27.6587	14.814	0.70017	0.0:0.7071:0.1089:0.184	.	348	O15553	MEFV_HUMAN	H	348;348;168;137;137;137	ENSP00000219596:R348H;ENSP00000339639:R168H;ENSP00000438711:R137H;ENSP00000445079:R137H	ENSP00000219596:R348H	R	-	2	0	MEFV	3239649	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.762000	0.00373	-2.922000	0.00304	-0.251000	0.11542	CGC		TCGA-US-A779-01A-11D-A32N-08	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	1	0	1	40	139	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1.000000	40	137	0	41	2		0	0	0	0	41	2	-3.318401	1	1	121406	30	42	1	0	0	0	2.039218	0	0.570000	1.860000	0.559967	0.760000	5.600000e-01	0.970000	0.760000	0.772374	0.760000	0	6.600000e-01	0.880000
CREBBP	1387	broad.mit.edu	37	16	3824628	3824628	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3824628C>A	ENST00000262367.5	-	12	3034	c.2225G>T	c.(2224-2226)cGt>cTt	p.R742L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R704L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein			295		Ovarian(90;0.0266)			GGAGGCTGCACGAGGTCCCAT	0.522000			T, N, F, Mis, O	MLL, MORF, RUNXBP2	ALL, AML, DLBCL, B-NHL 		Rubinstein-Taybi syndrome								Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0							SO:0001583	missense			ENST00000262367.5	0	1	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333841	0.81801	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84070	-1.8;-1.74	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	1.0;0.976	D;P	0.73380	0.98;0.901	D	0.88209	0.2889	10	0.44086	T	0.13	-18.4109	18.3882	0.90473	0.0:1.0:0.0:0.0	.	772;742	Q4LE28;Q92793	.;CBP_HUMAN	L	742;772;704	ENSP00000262367:R742L;ENSP00000371502:R704L	ENSP00000262367:R742L	R	-	2	0	CREBBP	3764629	1.000000	0.71417	0.203000	0.23512	0.964000	0.63967	6.965000	0.76067	2.663000	0.90544	0.557000	0.71058	CGT		TCGA-US-A779-01A-11D-A32N-08	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	0	0	0	5	352	0	68	0	3.945584e-02	0	18	0	68	2		0	0	0	0	0	2	0	0.934175	0	349	0	68	2		0	0	0	0	68	2	-5.314512	1	0	0	0		1	0	0	0	2.039218	0	0.570000	1.860000	0.559967	0.040000	1.000000e-02	0.110000	0.050000	0.057138	0.040000	0	2.000000e-02	0.080000
PMFBP1	83449	broad.mit.edu	37	16	72170640	72170640	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:72170640G>A	ENST00000237353.10	-	8	1258	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	PMFBP1_ENST00000537465.1_Missense_Mutation_p.R333C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R188C	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1			45		Ovarian(137;0.179)			AGTTCCACGCGCAGATCCTTC	0.552000																								0							SO:0001583	missense			ENST00000237353.10	0	1	hg19	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375346	0.61735	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.19250	2.18;2.19;2.16	4.85	1.33	0.21861	.	0.554792	0.13865	N	0.357364	T	0.33440	0.0863	L	0.36672	1.1	0.42002	D	0.990895	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.83275	0.996;0.881;0.996	T	0.07121	-1.0789	10	0.59425	D	0.04	-1.6358	10.8676	0.46864	0.0:0.0:0.3296:0.6704	.	333;333;333	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	C	333;333;188	ENSP00000443817:R333C;ENSP00000237353:R333C;ENSP00000347854:R188C	ENSP00000237353:R333C	R	-	1	0	PMFBP1	70728141	0.994000	0.37717	0.976000	0.42696	0.795000	0.44927	0.773000	0.26661	0.403000	0.25479	0.563000	0.77884	CGC		TCGA-US-A779-01A-11D-A32N-08	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	0	0	0	4	202	0	35	0	0	0	1	0	35	2		0	0	0	0	0	2	1	0.888902	4	200	0	35	2		0	0	0	0	35	2	-5.280537	1	1	121412	4	37	1	0	0	0	2.043785	0	0.570000	1.860000	0.565041	0.070000	1.000000e-02	0.160000	0.070000	0.083045	0.070000	0	4.000000e-02	0.120000
KCNG4	93107	broad.mit.edu	37	16	84256037	84256037	+	Missense_Mutation	SNP	G	G	A	rs142742654		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:84256037G>A	ENST00000308251.4	-	3	1414	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4			31					AGACGTGGCCGGGAAGGCCAT	0.627000																								0							SO:0001583	missense			ENST00000308251.4	0	1	hg19	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831268	0.91036	0.0	1.16E-4	ENSG00000168418	ENST00000308251	T	0.56103	0.48	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78380	-0.2226	10	0.87932	D	0	.	18.6264	0.91340	0.0:0.0:1.0:0.0	.	449	Q8TDN1	KCNG4_HUMAN	L	449	ENSP00000312129:P449L	ENSP00000312129:P449L	P	-	2	0	KCNG4	82813538	1.000000	0.71417	0.999000	0.59377	1.000000	0.99986	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	CCG		TCGA-US-A779-01A-11D-A32N-08	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	0	0	0	5	478	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	0.935064	5	470	0	98	2		0	0	0	0	101	2	-2.234781	0	1	121412	5	39	1	0	0	0	2.043785	0	0.570000	1.860000	0.565041	0.030000	0	0.080000	0.040000	0.042550	0.030000	0	1.000000e-02	0.060000
KIAA1468	57614	broad.mit.edu	37	18	59919929	59919929	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr18:59919929C>T	ENST00000398130.2	+	12	1998	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.A589V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468			47		Colorectal(73;0.186)			GTGGCATTTGCGCGTCATGTT	0.388000																								0							SO:0001583	missense			ENST00000398130.2	0	1	hg19	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	34	5.376217	0.95945	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.44482	0.92;0.92	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	P;D;D	0.91635	0.802;0.999;0.998	T	0.61481	-0.7054	9	.	.	.	-14.7767	20.0621	0.97678	0.0:1.0:0.0:0.0	.	589;589;233	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	589	ENSP00000381198:A589V;ENSP00000256858:A589V	.	A	+	2	0	KIAA1468	58070909	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.723000	0.84788	2.750000	0.94351	0.655000	0.94253	GCG		TCGA-US-A779-01A-11D-A32N-08	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	0	0	0	5	259	0	57	0	7.287236e-02	0	19	0	57	2		0	0	0	0	0	2	1	0.935597	5	255	0	57	2		0	0	0	0	57	2	-2.366711	0	1	121412	1	27	1	1	2	3	2.089381	0	0.570000	1.860000	0.571222	0.070000	2.000000e-02	0.150000	0.070000	0.079148	0.070000	0	4.000000e-02	0.110000
MRPL34	64981	broad.mit.edu	37	19	17417119	17417119	+	Silent	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17417119G>T	ENST00000252602.1	+	2	435	c.210G>T	c.(208-210)ctG>ctT	p.L70L	MRPL34_ENST00000594999.1_Silent_p.L70L|ABHD8_ENST00000247706.3_5'Flank|MRPL34_ENST00000602206.1_Nonstop_Mutation_p.*37L|MRPL34_ENST00000600434.1_Silent_p.L70L|MRPL34_ENST00000595444.1_Silent_p.L162L	NM_023937.3	NP_076426.1	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34			2					TCCGGCGCCTGAGCACGCCGG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000252602.1	1	0	hg19	CCDS12356.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	MRPL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463516.1	1	0	1	18	63	0	25	1	1	147	238	0	25	2		0	0	0	0	0	2	1	0.999991	18	62	0	25	2		0	0	0	0	25	2	-20.000000	1	1	0	0		1	0	0	0	2.045239	0	0.570000	1.860000	0.565041	0.770000	4.900000e-01	1.000000	1.000000	0.778722	0.770000	0	6.200000e-01	0.940000
UNC13A	23025	broad.mit.edu	37	19	17720864	17720864	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17720864G>A	ENST00000519716.2	-	43	4695	c.4696C>T	c.(4696-4698)Cgg>Tgg	p.R1566W	UNC13A_ENST00000551649.1_Missense_Mutation_p.R1585W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1566W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1560W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1539W|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1654W	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)			61					ATGAACGGCCGGAAGATGCCA	0.517000																								0							SO:0001583	missense			ENST00000519716.2	0	1	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007738	0.75046	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.13	4.13	0.48395	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.84005	0.5377	M	0.89968	3.075	0.46981	D	0.999273	D	0.89917	1.0	D	0.85130	0.997	D	0.87780	0.2611	10	0.87932	D	0	-17.1577	13.9527	0.64129	0.0:0.0:1.0:0.0	.	1566	Q9UPW8	UN13A_HUMAN	W	1566;1654;1566;1585;1560;1539	ENSP00000429562:R1566W;ENSP00000400409:R1654W;ENSP00000252773:R1566W;ENSP00000447236:R1585W;ENSP00000447572:R1560W;ENSP00000446831:R1539W	ENSP00000252773:R1566W	R	-	1	2	UNC13A	17581864	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.923000	0.56469	1.869000	0.54173	0.478000	0.44815	CGG		TCGA-US-A779-01A-11D-A32N-08	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	0	0	0	8	642	0	144	0	0	0	1	0	144	2		0	0	0	0	0	2	1	0.988807	8	633	0	142	2		0	0	0	0	144	2	-2.046657	0	1	0	0		1	0	0	0	2.045239	0	0.570000	1.860000	0.565041	0.040000	1.000000e-02	0.080000	0.040000	0.047979	0.040000	0	2.000000e-02	0.060000
ZFP82	284406	broad.mit.edu	37	19	36884698	36884698	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:36884698G>A	ENST00000392161.3	-	5	786	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R182C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein			25					AGCTGTTGGCGCACTCTGAAC	0.438000																								0							SO:0001583	missense			ENST00000392161.3	0	1	hg19	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285544	0.40394	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.16073	2.37;2.37	4.05	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37393	N	0.002115	T	0.26991	0.0661	L	0.43646	1.37	0.22911	N	0.998579	D	0.89917	1.0	D	0.63488	0.915	T	0.01977	-1.1236	10	0.35671	T	0.21	.	10.9206	0.47163	0.0:0.0:0.8124:0.1876	.	182	Q8N141	ZFP82_HUMAN	C	182	ENSP00000431265:R182C;ENSP00000446080:R182C	ENSP00000431265:R182C	R	-	1	0	ZFP82	41576538	0.000000	0.05858	0.991000	0.47740	0.979000	0.70002	-0.345000	0.07770	2.282000	0.76494	0.655000	0.94253	CGC		TCGA-US-A779-01A-11D-A32N-08	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	0	0	0	5	288	1	63		0	0	0	1	63	2		0	0	0	0	0	2	0	0.010352	5	282	1	63	16		0	0	0	1	63	2	-2.867962	1	1	121412	1	29	1	0	0	0	2.045239	0	0.570000	1.860000	0.565041	0.060000	1.000000e-02	0.130000	0.060000	0.070359	0.060000	0	3.000000e-02	0.100000
HIF3A	64344	broad.mit.edu	37	19	46825050	46825050	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:46825050A>G	ENST00000377670.4	+	10	1193	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V	HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000300862.3_Missense_Mutation_p.I386V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V|HIF3A_ENST00000339613.2_Missense_Mutation_p.I332V	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit			33		Ovarian(192;0.00965)|all_neural(266;0.0887)			TGGCCCCCGGATCCTTGCCTT	0.682000																								0							SO:0001583	missense			ENST00000377670.4	1	1	hg19	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.499|6.499	0.460253|0.460253	0.12342|0.12342	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000472815|ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	.|T;T;T;T;T	.|0.64803	.|0.63;-0.11;0.51;0.63;-0.12	4.43|4.43	3.42|3.42	0.39159|0.39159	.|.	.|1.554280	.|0.03882	.|N	.|0.277189	T|T	0.53351|0.53351	0.1791|0.1791	N|N	0.24115|0.24115	0.695|0.695	0.24933|0.24933	N|N	0.991907|0.991907	.|B;B;B;P;B;B;B	.|0.48350	.|0.074;0.048;0.119;0.909;0.073;0.073;0.024	.|B;B;B;P;B;B;B	.|0.48304	.|0.062;0.048;0.067;0.573;0.031;0.031;0.01	T|T	0.43686|0.43686	-0.9376|-0.9376	5|10	.|0.11182	.|T	.|0.66	.|.	6.4511|6.4511	0.21903|0.21903	0.8903:0.0:0.1097:0.0|0.8903:0.0:0.1097:0.0	.|.	.|337;319;386;337;332;388;388	.|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.|.;.;.;.;.;HIF3A_HUMAN;.	G|V	360|388;388;319;332;332;386;337	.|ENSP00000366898:I388V;ENSP00000244303:I319V;ENSP00000341877:I332V;ENSP00000300862:I386V;ENSP00000407771:I337V	.|ENSP00000244302:I388V	D|I	+|+	2|1	0|0	HIF3A|HIF3A	51516890|51516890	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.473000|0.473000	0.32948|0.32948	0.753000|0.753000	0.26376|0.26376	0.874000|0.874000	0.35823|0.35823	0.533000|0.533000	0.62120|0.62120	GAT|ATC		TCGA-US-A779-01A-11D-A32N-08	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3	1	0	1	212	561	0	152	0	0	0	1	0	152	2		0	0	0	0	1	2	1	1.000000	210	548	0	150	2		0	0	0	0	152	2	-20.000000	1	1	0	0		1	1	2	3	2.143403	0	0.570000	1.860000	0.576041	0.970000	8.600000e-01	1.000000	1.000000	0.965124	0.970000	1	9.100000e-01	1.000000
CNOT3	4849	broad.mit.edu	37	19	54646728	54646728	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54646728G>A	ENST00000406403.1	+	1	1617	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3			28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				GCGGACAAGCGCAAACTCCAA	0.527000																								0							SO:0001583	missense			ENST00000406403.1	0	1	hg19	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051461	0.93793	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.73363	-0.74;-0.74	4.87	4.87	0.63330	Not CCR4-Not complex component, N-terminal (1);	0.135232	0.48286	D	0.000197	D	0.88328	0.6407	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90703	0.4622	10	0.87932	D	0	-24.7136	15.3142	0.74059	0.0:0.0:1.0:0.0	.	5;5	B7Z6J7;O75175	.;CNOT3_HUMAN	H	5	ENSP00000221232:R5H;ENSP00000383954:R5H	ENSP00000221232:R5H	R	+	2	0	CNOT3	59338540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.832000	0.86757	2.429000	0.82318	0.655000	0.94253	CGC		TCGA-US-A779-01A-11D-A32N-08	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	0	0	0	6	523	0	121	0	9.862287e-02	1	38	0	121	2		0	0	0	0	0	2	1	0.964741	7	520	0	120	2		0	0	0	0	121	2	-1.887841	0	1	0	0		1	1	2	3	2.148291	0	0.570000	1.860000	0.577229	0.040000	0	1.000000	0.040000	0.091633	0.040000	0	2.000000e-02	0.070000
LAIR1	3903	broad.mit.edu	37	19	54872775	54872775	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54872775C>T	ENST00000391742.2	-	3	264	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	LAIR1_ENST00000474878.1_Missense_Mutation_p.V37M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391743.3_Missense_Mutation_p.V20M			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1			26	Ovarian(34;0.19)				AGGGGGATCACGGTGCCTGGC	0.582000																								0							SO:0001583	missense			ENST00000391742.2	0	1	hg19	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	13.40	2.225204	0.39300	4.54E-4	1.16E-4	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;5.55	3.16	-1.77	0.07982	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.038110	0.07680	N	0.936945	T	0.22781	0.0550	M	0.72353	2.195	0.09310	N	1	P;B;B;P;P;P	0.49696	0.628;0.448;0.436;0.927;0.626;0.673	B;B;B;P;B;B	0.52554	0.267;0.266;0.118;0.702;0.097;0.323	T	0.28396	-1.0045	10	0.35671	T	0.21	.	6.5499	0.22427	0.0:0.5255:0.0:0.4745	.	38;20;37;37;38;38	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	M	20;38;37;38;31;37;32	ENSP00000375623:V20M;ENSP00000375622:V38M;ENSP00000391003:V37M;ENSP00000301193:V38M;ENSP00000319204:V31M;ENSP00000418998:V37M;ENSP00000392058:V32M	ENSP00000319204:V31M	V	-	1	0	LAIR1	59564587	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.630000	0.05502	-0.205000	0.10219	-0.210000	0.12710	GTG		TCGA-US-A779-01A-11D-A32N-08	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1	0	0	0	11	638	0	145	0	1.471472e-02	0	10	0	145	2		0	0	0	0	0	2	1	0.998261	11	632	0	144	2		0	0	0	0	145	2	-2.756040	1	1	121412	23	48	1	1	2	3	2.148761	0	0.570000	1.860000	0.577229	0.060000	2.000000e-02	1.000000	0.060000	0.109562	0.060000	0	4.000000e-02	0.090000
BRSK1	84446	broad.mit.edu	37	19	55814225	55814225	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:55814225C>T	ENST00000309383.1	+	10	1295	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	BRSK1_ENST00000585418.1_Missense_Mutation_p.R340C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C|BRSK1_ENST00000326848.7_Missense_Mutation_p.R35C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1			48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)		TCGCGAGCTGCGCAGTGAGGA	0.662000																								0							SO:0001583	missense			ENST00000309383.1	1	1	hg19	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	16.92	3.256628	0.59321	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.72167	-0.63;1.95	4.69	3.62	0.41486	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.301128	0.28865	N	0.013882	T	0.66157	0.2761	N	0.08118	0	0.49483	D	0.999797	D;D	0.71674	0.996;0.998	P;P	0.61201	0.771;0.885	T	0.72620	-0.4238	10	0.72032	D	0.01	.	13.1288	0.59369	0.1618:0.8382:0.0:0.0	.	340;356	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	C	340;35;35	ENSP00000310649:R340C;ENSP00000320853:R35C	ENSP00000310649:R340C	R	+	1	0	BRSK1	60506037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.281000	0.43452	1.075000	0.40932	0.655000	0.94253	CGC		TCGA-US-A779-01A-11D-A32N-08	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	1	0	1	67	189	0	74	0	3.934358e-01	1	4	0	74	2		0	0	0	0	0	2	1	1.000000	66	187	0	74	2		0	0	0	0	74	2	-5.355290	1	1	0	0		1	1	2	3	2.148761	0	0.570000	1.860000	0.577229	0.930000	7.400000e-01	1.000000	1.000000	0.925591	0.930000	1	8.300000e-01	1.000000
NLRP8	126205	broad.mit.edu	37	19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:56466799G>A	ENST00000291971.3	+	3	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8			35		Colorectal(82;0.000147)|Ovarian(87;0.17)			TCACTTGGCCGCAGACAGCAT	0.498000																								0							SO:0001583	missense			ENST00000291971.3	0	1	hg19	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979924	0.34942	.	.	ENSG00000179709	ENST00000291971	D	0.83837	-1.77	2.04	0.947	0.19555	.	.	.	.	.	D	0.87438	0.6177	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65010	0.928;0.931	T	0.75419	-0.3324	9	0.72032	D	0.01	.	5.6935	0.17843	0.0:0.0:0.6797:0.3203	.	459;459	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	459	ENSP00000291971:A459T	ENSP00000291971:A459T	A	+	1	0	NLRP8	61158611	0.057000	0.20700	0.001000	0.08648	0.002000	0.02628	2.681000	0.46926	0.401000	0.25424	-0.426000	0.05927	GCA		TCGA-US-A779-01A-11D-A32N-08	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	0	0	0	7	557	0	91		0	0	0	0	91	2		0	0	0	0	0	2	0	0.005371	7	553	1	89	21		0	0	0	0	91	2	-2.083570	0	1	121412	1	31	1	1	2	3	2.148761	0	0.570000	1.860000	0.577229	0.040000	1.000000e-02	1.000000	0.040000	0.095049	0.040000	0	2.000000e-02	0.070000
OR7D4	125958	broad.mit.edu	37	19	9324694	9324694	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:9324694C>T	ENST00000308682.2	-	1	848	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4			26					ATCACTGAGGCGGTGGAGCTG	0.552000																								0							SO:0001583	missense			ENST00000308682.2	0	1	hg19	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	5.291	0.239022	0.10023	2.27E-4	0.0	ENSG00000174667	ENST00000308682	T	0.38077	1.16	3.49	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.112635	0.39759	N	0.001267	T	0.34395	0.0896	M	0.70842	2.15	0.09310	N	1	B	0.27765	0.188	B	0.31290	0.127	T	0.34502	-0.9826	10	0.59425	D	0.04	.	5.1087	0.14798	0.0:0.665:0.2133:0.1217	.	274	Q8NG98	OR7D4_HUMAN	T	274	ENSP00000310488:A274T	ENSP00000310488:A274T	A	-	1	0	OR7D4	9185694	0.000000	0.05858	0.371000	0.25978	0.046000	0.14306	-0.229000	0.09098	0.831000	0.34780	0.205000	0.17691	GCC		TCGA-US-A779-01A-11D-A32N-08	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	0	0	0	6	323	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	0.962952	6	316	0	80	2		0	0	0	0	80	2	-3.283063	1	1	121412	3	38	1	0	0	0	2.045239	0	0.570000	1.860000	0.565041	0.060000	2.000000e-02	0.130000	0.060000	0.073202	0.060000	0	4.000000e-02	0.100000
POU2F1	5451	broad.mit.edu	37	1	167343484	167343484	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:167343484C>A	ENST00000541643.3	+	7	635	c.473C>A	c.(472-474)gCc>gAc	p.A158D	POU2F1_ENST00000420254.3_Missense_Mutation_p.A158D|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.A170D|POU2F1_ENST00000452019.1_Missense_Mutation_p.A158D|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000367866.2_Missense_Mutation_p.A181D			P14859	PO2F1_HUMAN	POU class 2 homeobox 1			30					GCCTCTGCTGCCACGCCCATG	0.617000																								0							SO:0001583	missense			ENST00000541643.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	37	6.377326	0.97520	.	.	ENSG00000143190	ENST00000367866;ENST00000452019;ENST00000492850;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.77	5.77	0.91146	.	0.167697	0.37530	N	0.002053	D	0.84188	0.5417	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.85130	0.991;0.996;0.997;0.99	D	0.84611	0.0678	10	0.72032	D	0.01	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	158;170;156;158	P14859-4;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	D	181;158;35;156;158;158;170;66	ENSP00000356840:A181D;ENSP00000391523:A158D;ENSP00000356839:A156D;ENSP00000414660:A158D;ENSP00000441285:A158D;ENSP00000356836:A170D;ENSP00000415993:A66D	ENSP00000356836:A170D	A	+	2	0	POU2F1	165610108	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.453000	0.80700	2.732000	0.93576	0.650000	0.86243	GCC		TCGA-US-A779-01A-11D-A32N-08	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	5	168	0	32	0	1.363636e-03	0	2	0	32	2		0	0	0	0	0	2	0	0.925901	0	161	0	25	2		0	0	0	0	32	2	-7.160779	1	0	0	0		1	1	2	3	2.091686	0	0.570000	1.860000	0.571222	0.100000	3.000000e-02	0.230000	0.100000	0.120126	0.100000	0	6.000000e-02	0.170000
CFH	3075	broad.mit.edu	37	1	196714957	196714957	+	Silent	SNP	A	A	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:196714957A>C	ENST00000367429.4	+	21	3561	c.3321A>C	c.(3319-3321)ggA>ggC	p.G1107G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H			101					ATTCTACAGGAAAATGTGGGC	0.398000																								0							SO:0001819	synonymous_variant			ENST00000367429.4	1	1	hg19	CCDS1385.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	1	0	1	138	418	0	96	0	9.999986e-01	0	61	0	96	2		0	0	0	0	0	2	1	1.000000	138	413	0	96	2		0	0	0	0	96	2	-20.000000	1	1	0	0		1	1	2	3	2.091686	0	0.570000	1.860000	0.571222	0.860000	7.400000e-01	1.000000	0.870000	0.874567	0.860000	1	8.000000e-01	0.940000
SUSD4	55061	broad.mit.edu	37	1	223465880	223465880	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:223465880C>T	ENST00000343846.3	-	2	895	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G88R|SUSD4_ENST00000494793.2_Missense_Mutation_p.G88R|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.G88R			Q5VX71	SUSD4_HUMAN	sushi domain containing 4			17					AGCTTGAATCCGTCTTGGCAG	0.512000																								0							SO:0001583	missense			ENST00000343846.3	1	1	hg19	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685607	0.88639	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.76709	-1.04;-1.04;-1.04	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.46442	D	0.000285	D	0.88742	0.6519	M	0.78344	2.41	0.80722	D	1	D;P	0.89917	1.0;0.952	D;B	0.97110	1.0;0.411	D	0.89846	0.4006	10	0.87932	D	0	-7.532	19.0844	0.93198	0.0:1.0:0.0:0.0	.	88;88	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	R	88	ENSP00000344219:G88R;ENSP00000355843:G88R;ENSP00000339926:G88R	ENSP00000271787:G88R	G	-	1	0	SUSD4	221532503	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.685000	0.68204	2.506000	0.84524	0.561000	0.74099	GGA		TCGA-US-A779-01A-11D-A32N-08	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	1	0	1	135	427	0	105	1	9.990046e-01	11	24	0	105	2		0	0	0	0	0	2	1	1.000000	131	421	0	105	2		0	0	0	0	105	2	-4.689269	1	1	0	0		1	1	2	3	2.091686	0	0.570000	1.860000	0.571222	0.840000	7.200000e-01	0.980000	0.840000	0.847133	0.840000	0	7.700000e-01	0.910000
IL22RA1	58985	broad.mit.edu	37	1	24447351	24447351	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:24447351T>C	ENST00000270800.1	-	7	1707	c.1669A>G	c.(1669-1671)Aca>Gca	p.T557A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1			19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)			TCCAGTTCTGTGGGCTGCTCC	0.607000																								0							SO:0001583	missense			ENST00000270800.1	1	1	hg19	CCDS247.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954597	0.34471	.	.	ENSG00000142677	ENST00000270800	T	0.11385	2.78	4.97	-9.84	0.00479	.	2.787690	0.01292	N	0.010041	T	0.07052	0.0179	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.003	T	0.23511	-1.0186	10	0.41790	T	0.15	11.0103	8.4218	0.32705	0.1227:0.5662:0.0:0.3111	.	489;557	B4E2V9;Q8N6P7	.;I22R1_HUMAN	A	557	ENSP00000270800:T557A	ENSP00000270800:T557A	T	-	1	0	IL22RA1	24319938	0.000000	0.05858	0.000000	0.03702	0.862000	0.49288	-2.028000	0.01431	-1.664000	0.01479	0.529000	0.55759	ACA		TCGA-US-A779-01A-11D-A32N-08	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1	1	0	1	95	310	0	87	1	1	74	73	0	87	2		0	0	0	0	0	2	1	1.000000	93	303	0	87	2		0	0	0	0	87	2	-20.000000	1	1	0	0		1	0	0	0	2.065936	0	0.570000	1.860000	0.567535	0.810000	6.700000e-01	0.960000	0.810000	0.821099	0.810000	0	7.400000e-01	0.890000
ZNF831	128611	broad.mit.edu	37	20	57768280	57768280	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:57768280G>C	ENST00000371030.2	+	1	2206	c.2206G>C	c.(2206-2208)Ggc>Cgc	p.G736R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				TGCACTGGGTGGCAGAGACAG	0.627000																								0							SO:0001583	missense			ENST00000371030.2	0	1	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951969	0.34471	.	.	ENSG00000124203	ENST00000371030	T	0.04275	3.66	5.08	-4.76	0.03229	.	0.547276	0.17694	N	0.165163	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	P	0.49961	0.93	P	0.48030	0.564	T	0.39881	-0.9592	10	0.48119	T	0.1	-2.5812	6.2258	0.20708	0.3917:0.0:0.4426:0.1657	.	736	Q5JPB2	ZN831_HUMAN	R	736	ENSP00000360069:G736R	ENSP00000360069:G736R	G	+	1	0	ZNF831	57201675	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.311000	0.08124	-0.793000	0.04475	0.643000	0.83706	GGC		TCGA-US-A779-01A-11D-A32N-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	0	0	3	51	0	9		0	0	0	0	9	2		0	0	0	0	0	2	0	0.787372	0	50	0	9	2		0	0	0	0	9	2	-7.428794	1	0	0	0		1	0	0	0	2.062638	0	0.570000	1.860000	0.567535	0.220000	6.000000e-02	0.490000	0.190000	0.245742	0.220000	0	1.200000e-01	0.350000
AIRE	326	broad.mit.edu	37	21	45710997	45710997	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr21:45710997C>T	ENST00000291582.5	+	8	1026	c.899C>T	c.(898-900)gCc>gTc	p.A300V	AIRE_ENST00000329347.4_Missense_Mutation_p.A93V|AIRE_ENST00000355347.4_Missense_Mutation_p.A93V	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	p.A103V(1)|p.A300V(1)		14					GACGAGTGTGCCGTGTGTCGG	0.657000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy															2	Substitution - Missense(2)						SO:0001583	missense	Familial Cancer Database	APECED	ENST00000291582.5	0	1	hg19	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920439	0.52653	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	D;D;D	0.94497	-3.44;-3.44;-3.44	3.86	2.96	0.34315	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44902	D	0.000411	D	0.93536	0.7937	N	0.21142	0.635	0.52099	D	0.999946	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	D	0.91753	0.5414	10	0.48119	T	0.1	-32.3727	8.9219	0.35617	0.2232:0.7768:0.0:0.0	.	103;300	B2RP50;O43918	.;AIRE_HUMAN	V	300;103;103;93;93	ENSP00000291582:A300V;ENSP00000347505:A93V;ENSP00000331055:A93V	ENSP00000291582:A300V	A	+	2	0	AIRE	44535425	1.000000	0.71417	0.089000	0.20774	0.196000	0.23810	6.738000	0.74822	0.725000	0.32318	0.462000	0.41574	GCC		TCGA-US-A779-01A-11D-A32N-08	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2	0	0	0	7	489	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	0.979594	7	481	0	100	2		0	0	0	0	103	2	-2.344952	0	1	0	0		1	0	0	0	2.067827	0	0.570000	1.860000	0.567535	0.040000	1.000000e-02	0.100000	0.050000	0.056028	0.040000	0	3.000000e-02	0.080000
ZC3H7B	23264	broad.mit.edu	37	22	41742053	41742053	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:41742053C>T	ENST00000352645.4	+	14	1763	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	ZC3H7B_ENST00000351589.4_Silent_p.F502F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B			38					ACTGCACCTTCGCCTACCATC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000352645.4	1	1	hg19	CCDS14013.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	0	0	0	32	989	0	201	0	5.638036e-01	0	59	0	201	2		0	0	0	0	0	2	1	1.000000	31	982	0	201	2		0	0	0	0	201	2	-2.822420	1	1	0	0		1	1	2	3	2.627496	1	0.570000	1.860000	0.665370	0.130000	9.000000e-02	0.200000	0.150000	0.145362	0.130000	0	1.100000e-01	0.170000
PLXNB2	23654	broad.mit.edu	37	22	50716129	50716129	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:50716129G>C	ENST00000449103.1	-	33	5227	c.5087C>G	c.(5086-5088)cCc>cGc	p.P1696R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1696R			O15031	PLXB2_HUMAN	plexin B2			66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			GATGAAGTGGGGGTTCTTGAG	0.627000																								0							SO:0001583	missense			ENST00000449103.1	1	1	hg19	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515467	0.85389	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.70045	-0.45;-0.45	4.21	4.21	0.49690	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.084908	0.50627	D	0.000119	D	0.85265	0.5657	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89427	0.3714	10	0.87932	D	0	.	16.7466	0.85474	0.0:0.0:1.0:0.0	.	1696	O15031	PLXB2_HUMAN	R	1696;1696;326	ENSP00000409171:P1696R;ENSP00000352288:P1696R	ENSP00000352288:P1696R	P	-	2	0	PLXNB2	49058256	1.000000	0.71417	0.948000	0.38648	0.954000	0.61252	9.181000	0.94874	2.170000	0.68504	0.491000	0.48974	CCC		TCGA-US-A779-01A-11D-A32N-08	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	1	0	1	81	294	0	116	1	1	253	159	0	116	2	1	1	84	174	0	381	2	1	1.000000	75	290	0	116	2		0	0	0	0	116	2	-3.826611	1	1	0	0		1	0	1	1	1.439548	1	0.570000	1.860000	0.398601	0.530000	4.300000e-01	0.640000	0.540000	0.543486	0.530000	0	4.800000e-01	0.590000
RBMS1	5937	broad.mit.edu	37	2	161159916	161159916	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:161159916T>C	ENST00000348849.3	-	5	915	c.485A>G	c.(484-486)aAa>aGa	p.K162R	RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R|RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1		PLA2R1/RBMS1(2)						TCCAAATGGTTTGAGCATATT	0.413000																								0							SO:0001583	missense			ENST00000348849.3	1	1	hg19	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.291114	0.80914	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	N	0.25144	0.715	0.80722	D	1	B;B;B;P;B;B;B	0.51449	0.004;0.118;0.009;0.945;0.128;0.002;0.008	B;B;B;D;B;B;B	0.71870	0.02;0.275;0.07;0.975;0.179;0.044;0.131	T	0.04360	-1.0957	10	0.54805	T	0.06	.	15.9541	0.79871	0.0:0.0:0.0:1.0	.	129;28;162;162;28;129;162	D3DPB2;Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;.;RBMS1_HUMAN;.;.;.;.	R	162;129;129;162;129	ENSP00000294904:K162R;ENSP00000386347:K129R;ENSP00000386571:K129R;ENSP00000376508:K162R;ENSP00000387280:K129R	ENSP00000294904:K162R	K	-	2	0	RBMS1	160868162	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.163000	0.67991	0.533000	0.62120	AAA		TCGA-US-A779-01A-11D-A32N-08	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	1	0	1	50	296	0	69	1	5.837977e-01	6	7	0	69	2		0	0	0	0	0	2	1	1.000000	50	290	0	69	2		0	0	0	0	69	2	-19.999680	1	1	0	0		1	0	0	0	2.057654	0	0.570000	1.860000	0.565041	0.490000	3.700000e-01	0.630000	0.500000	0.507226	0.490000	0	4.300000e-01	0.570000
PPP1R1C	151242	broad.mit.edu	37	2	182850872	182850872	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:182850872C>T	ENST00000409137.3	+	1	278	c.35C>T	c.(34-36)gCc>gTc	p.A12V	PPP1R1C_ENST00000409702.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000280295.3_Missense_Mutation_p.A12V|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.A12V	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C			6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)		ATACAGTTTGCCGTGCCTGTA	0.448000																								0							SO:0001583	missense			ENST00000409137.3	0	1	hg19	CCDS46468.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558951	0.86231	.	.	ENSG00000150722	ENST00000452904;ENST00000409137;ENST00000280295;ENST00000409702	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.87	5.87	0.94306	.	0.053176	0.85682	D	0.000000	T	0.49304	0.1549	M	0.69823	2.125	0.58432	D	0.99999	P;P	0.48503	0.911;0.834	P;P	0.50896	0.642;0.653	T	0.46857	-0.9161	10	0.72032	D	0.01	-13.2258	20.5827	0.99408	0.0:1.0:0.0:0.0	.	12;12	Q8WVI7-2;Q8WVI7	.;PPR1C_HUMAN	V	12	ENSP00000399602:A12V;ENSP00000386359:A12V;ENSP00000280295:A12V;ENSP00000386778:A12V	ENSP00000280295:A12V	A	+	2	0	PPP1R1C	182559117	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.971000	0.70440	2.941000	0.99782	0.655000	0.94253	GCC		TCGA-US-A779-01A-11D-A32N-08	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334874.1	0	0	0	6	467	0	99	0	0	0	1	0	99	2		0	0	0	0	0	2	1	0.963782	6	461	0	99	2		0	0	0	0	99	2	-2.105576	0	1	0	0		1	0	0	0	2.039556	0	0.570000	1.860000	0.559967	0.040000	0	0.090000	0.040000	0.050447	0.040000	0	2.000000e-02	0.070000
KIF1A	547	broad.mit.edu	37	2	241680688	241680688	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:241680688G>A	ENST00000320389.7	-	33	3602	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	KIF1A_ENST00000498729.2_Silent_p.G1249G	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A			66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			GCACTCACTCGCCGTTGGCCT	0.657000																								0							SO:0001819	synonymous_variant			ENST00000320389.7	0	0	hg19	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964924	0.34659	.	.	ENSG00000130294	ENST00000431776	.	.	.	4.44	1.37	0.22104	.	.	.	.	.	T	0.57125	0.2032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47911	-0.9080	4	.	.	.	.	8.8409	0.35142	0.0:0.1298:0.3973:0.4729	.	.	.	.	V	72	.	.	A	-	2	0	KIF1A	241329361	0.995000	0.38212	0.978000	0.43139	0.971000	0.66376	0.256000	0.18351	-0.040000	0.13580	0.460000	0.39030	GCG		TCGA-US-A779-01A-11D-A32N-08	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1	14	28	0	7	0	5.463796e-01	0	5	0	7	2		0	0	0	0	0	2	1	0.999916	14	28	0	6	2		0	0	0	0	7	2	-20.000000	1	0	0	0		1	0	0	0	2.039556	0	0.570000	1.860000	0.559967	0.990000	7.000000e-01	1.000000	1.000000	0.962822	0.990000	1	9.000000e-01	1.000000
ADRA2B	151	broad.mit.edu	37	2	96780765	96780765	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:96780765C>T	ENST00000409345.3	-	1	1219	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B			16				Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CACAAAAACGCCAATGACCAC	0.622000																								0							SO:0001583	missense			ENST00000409345.3	1	1	hg19	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308310	0.81247	.	.	ENSG00000222040	ENST00000409345	T	0.38560	1.13	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.81346	0.4803	H	0.99682	4.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89685	0.3893	9	0.87932	D	0	.	17.1963	0.86893	0.0:1.0:0.0:0.0	.	378	P18089	ADA2B_HUMAN	D	375	ENSP00000387281:G375D	ENSP00000387281:G375D	G	-	2	0	ADRA2B	96144492	1.000000	0.71417	0.421000	0.26609	0.650000	0.38633	7.810000	0.86072	2.658000	0.90341	0.551000	0.68910	GGC		TCGA-US-A779-01A-11D-A32N-08	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1	1	0	1	27	85	0	29	0	6.193745e-02	0	2	0	29	2		0	0	0	0	0	2	1	1.000000	26	82	0	28	2		0	0	0	0	29	2	-20.000000	1	1	0	0		1	0	0	0	2.057654	0	0.570000	1.860000	0.565041	0.830000	5.800000e-01	1.000000	1.000000	0.835738	0.830000	0	7.000000e-01	0.980000
VGLL4	9686	broad.mit.edu	37	3	11643423	11643423	+	Silent	SNP	G	G	A	rs151086238	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:11643423G>A	ENST00000430365.2	-	2	561	c.156C>T	c.(154-156)acC>acT	p.T52T	VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000273038.3_Silent_p.T46T|VGLL4_ENST00000404339.1_Silent_p.T51T|VGLL4_ENST00000480288.1_5'Flank	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial-like family member 4			10					GGGGAGGGCCGGTGCGGTGAC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000430365.2	0	1	hg19	CCDS46754.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	VGLL4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339133.1	0	0	0	7	466	0	108	0	2.383197e-01	0	55	0	108	2		0	0	0	0	0	2	1	0.980016	6	462	0	105	2		0	0	0	0	108	2	-2.247641	0	1	121412	64	51	1	1	2	3	2.100008	0	0.570000	1.860000	0.571222	0.050000	1.000000e-02	0.110000	0.060000	0.059229	0.050000	0	3.000000e-02	0.080000
ZNF148	7707	broad.mit.edu	37	3	124953158	124953158	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:124953158C>T	ENST00000360647.4	-	8	1168	c.683G>A	c.(682-684)cGc>cAc	p.R228H	ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H|ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000484491.1_Missense_Mutation_p.R228H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148			28					TTCATCACAGCGAAATGGTTT	0.294000																								0							SO:0001583	missense			ENST00000360647.4	1	1	hg19	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738426	0.30774	0.0	1.16E-4	ENSG00000163848	ENST00000360647;ENST00000468369;ENST00000484491;ENST00000544464;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	5.32	3.49	0.39957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048859	0.85682	D	0.000000	T	0.13243	0.0321	L	0.35644	1.08	0.29133	N	0.879492	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.002	T	0.08027	-1.0742	10	0.44086	T	0.13	0.0288	9.7899	0.40699	0.0:0.786:0.0:0.214	.	36;228	G5E9X2;Q9UQR1	.;ZN148_HUMAN	H	228;36;228;23;228;228;228	ENSP00000353863:R228H;ENSP00000420102:R36H;ENSP00000420335:R228H;ENSP00000437916:R23H;ENSP00000419322:R228H;ENSP00000420448:R228H	ENSP00000353863:R228H	R	-	2	0	ZNF148	126435848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.648000	0.46647	1.474000	0.48178	0.650000	0.86243	CGC		TCGA-US-A779-01A-11D-A32N-08	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	1	0	1	58	288	0	70	0	2.026913e-01	0	5	0	70	2		0	0	0	0	0	2	1	1.000000	58	284	0	69	2		0	0	0	0	70	2	-20.000000	1	1	0	0		1	1	2	3	2.100008	0	0.570000	1.860000	0.571222	0.580000	4.500000e-01	0.740000	0.590000	0.595282	0.580000	0	5.100000e-01	0.670000
RFTN1	23180	broad.mit.edu	37	3	16475456	16475456	+	Silent	SNP	C	C	T	rs144679139		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:16475456C>T	ENST00000334133.4	-	3	506	c.234G>A	c.(232-234)tcG>tcA	p.S78S	RFTN1_ENST00000432519.1_Silent_p.S42S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1			38					GGGCCGCCAGCGAGAAGCCCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000334133.4	0	1	hg19	CCDS33712.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	0	0	0	13	503	0	107	0	4.496843e-03	0	4	0	107	2		0	0	0	0	0	2	1	0.999512	13	498	0	106	2		0	0	0	0	107	2	-11.139930	1	1	0	0		1	1	2	3	2.100008	0	0.570000	1.860000	0.571222	0.080000	4.000000e-02	0.150000	0.090000	0.094968	0.080000	0	6.000000e-02	0.120000
PLCD1	5333	broad.mit.edu	37	3	38049624	38049624	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:38049624G>A	ENST00000334661.4	-	14	2288	c.2066C>T	c.(2065-2067)gCg>gTg	p.A689V	PLCD1_ENST00000463876.1_Missense_Mutation_p.A710V	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1			24					TACCTCAAACGCAAACTCCGT	0.557000																								0							SO:0001583	missense			ENST00000334661.4	0	1	hg19	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	8.511	0.866463	0.17250	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.68181	-0.31;-0.31	5.15	4.0	0.46444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.475525	0.25677	N	0.029024	T	0.31702	0.0805	N	0.00525	-1.395	0.22648	N	0.998895	B;B	0.12013	0.005;0.003	B;B	0.08055	0.001;0.003	T	0.21143	-1.0254	10	0.23302	T	0.38	.	11.6796	0.51451	0.0:0.0:0.2929:0.7071	.	689;710	P51178;B3KR14	PLCD1_HUMAN;.	V	710;689	ENSP00000430344:A710V;ENSP00000335600:A689V	ENSP00000335600:A689V	A	-	2	0	PLCD1	38024628	0.000000	0.05858	0.989000	0.46669	0.071000	0.16799	0.102000	0.15272	0.932000	0.37266	-0.397000	0.06425	GCG		TCGA-US-A779-01A-11D-A32N-08	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2	0	0	0	5	434	0	95	0	1.957615e-01	0	59	0	95	2		0	0	0	0	0	2	1	0.937125	5	432	0	95	2		0	0	0	0	95	2	-2.522111	1	1	121412	1	40	1	1	2	3	2.100008	0	0.570000	1.860000	0.571222	0.040000	0	0.090000	0.040000	0.047594	0.040000	0	2.000000e-02	0.070000
RYBP	23429	broad.mit.edu	37	3	72428210	72428210	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:72428210C>A	ENST00000477973.2	-	3	679	c.680G>T	c.(679-681)cGa>cTa	p.R227L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein			2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)			TGATTTGTTTCGCTGGTCTTT	0.393000																								0							SO:0001583	missense			ENST00000477973.2	0	0	hg19		.	.	.	.	.	.	.	.	.	.	C	21.7	4.191335	0.78902	.	.	ENSG00000163602	ENST00000477973	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.65749	0.2721	.	.	.	.	.	.	.	.	.	.	.	.	T	0.68044	-0.5513	3	.	.	.	-29.6366	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	.	.	.	L	227	.	.	R	-	2	0	RYBP	72510900	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.592000	0.67543	2.941000	0.99782	0.655000	0.94253	CGA		TCGA-US-A779-01A-11D-A32N-08	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	1	0	1	63	151	0	55	1	9.444030e-01	4	10	0	55	2		0	0	0	0	0	2	1	1.000000	63	150	0	55	2		0	0	0	0	55	2	-6.696900	1	1	0	0		1	1	2	3	2.100008	0	0.570000	1.860000	0.571222	0.990000	8.200000e-01	1.000000	1.000000	0.973549	0.990000	1	9.200000e-01	1.000000
PDZRN3	23024	broad.mit.edu	37	3	73440202	73440202	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:73440202G>A	ENST00000263666.4	-	6	1434	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Silent_p.D162D|PDZRN3_ENST00000466780.1_Silent_p.D97D|PDZRN3_ENST00000479530.1_Silent_p.D157D|PDZRN3_ENST00000462146.2_Silent_p.D97D	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)			CGTCTTCATCGTCCGTCCGGT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000263666.4	1	1	hg19	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	8.064	0.768692	0.15983	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.18	-9.21	0.00678	.	.	.	.	.	T	0.66327	0.2778	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74100	-0.3774	4	.	.	.	.	20.3542	0.98835	0.8963:0.0:0.1037:0.0	.	.	.	.	M	37	.	.	T	-	2	0	PDZRN3	73522892	0.432000	0.25554	0.086000	0.20670	0.897000	0.52465	-0.105000	0.10907	-1.917000	0.01074	-0.880000	0.02959	ACG		TCGA-US-A779-01A-11D-A32N-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	0	0	0	27	837	0	164	0	1.081481e-03	0	2	0	164	2		0	0	0	0	0	2	1	1.000000	26	823	0	163	2		0	0	0	0	164	2	-2.907811	1	1	121412	12	48	1	1	2	3	2.100008	0	0.570000	1.860000	0.571222	0.100000	6.000000e-02	0.160000	0.110000	0.113674	0.100000	0	8.000000e-02	0.140000
PHF17	0	broad.mit.edu	37	4	129783124	129783124	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:129783124G>A	ENST00000226319.6	+	9	1527	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	PHF17_ENST00000413543.2_Missense_Mutation_p.R416H|PHF17_ENST00000511647.1_Missense_Mutation_p.R416H|PHF17_ENST00000452328.2_Missense_Mutation_p.R404H|PHF17_ENST00000512960.1_Missense_Mutation_p.R416H	NM_199320.2	NP_955352.1						29					GTGAGTGTCCGTAAGCAGAAG	0.607000																								0							SO:0001583	missense			ENST00000226319.6	0	1	hg19	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224990	0.58668	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.49139	0.88;0.79;0.88;0.88;0.79	5.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.73830	-0.3859	9	.	.	.	.	13.6817	0.62489	0.0745:0.0:0.9255:0.0	.	404;416;416	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	H	416;416;404;416;416;416	ENSP00000226319:R416H;ENSP00000423737:R416H;ENSP00000388015:R404H;ENSP00000425730:R416H;ENSP00000404211:R416H	.	R	+	2	0	PHF17	130002574	1.000000	0.71417	0.821000	0.32701	0.166000	0.22503	8.901000	0.92560	1.346000	0.45694	-0.150000	0.13652	CGT		TCGA-US-A779-01A-11D-A32N-08	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1	0	0	0	6	499	1	103	0	3.653600e-02	0	21	1	103	2		0	0	0	0	0	2	0	0.014118	7	487	1	103	17		0	0	0	1	103	2	-2.231350	0	1	121412	3	35	1	1	2	3	2.112040	0	0.570000	1.860000	0.572437	0.040000	0	0.100000	0.040000	0.057919	0.040000	0	2.000000e-02	0.070000
RGS12	6002	broad.mit.edu	37	4	3318330	3318330	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:3318330G>A	ENST00000344733.5	+	2	1337	c.433G>A	c.(433-435)Gga>Aga	p.G145R	RGS12_ENST00000382788.3_Missense_Mutation_p.G145R|RGS12_ENST00000336727.3_Missense_Mutation_p.G145R|RGS12_ENST00000543385.1_Missense_Mutation_p.G145R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12			43					GCAGTCTGGTGGAATTTTCAA	0.468000																								0							SO:0001583	missense			ENST00000344733.5	1	1	hg19	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196311	0.78902	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.37058	1.22;1.27;1.28;1.28	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.994;0.987;0.995	T	0.67960	-0.5535	10	0.72032	D	0.01	-22.7391	16.6763	0.85280	0.0:0.0:1.0:0.0	.	145;145;145	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	R	145	ENSP00000440566:G145R;ENSP00000339381:G145R;ENSP00000338509:G145R;ENSP00000372238:G145R	ENSP00000338509:G145R	G	+	1	0	RGS12	3288128	1.000000	0.71417	0.077000	0.20336	0.902000	0.53008	7.324000	0.79115	2.176000	0.68965	0.491000	0.48974	GGA		TCGA-US-A779-01A-11D-A32N-08	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	1	0	1	104	285	0	76	0	7.261600e-02	1	1	0	76	2		0	0	0	0	0	2	1	1.000000	102	281	0	76	2		0	0	0	0	76	2	-6.547642	1	1	0	0		1	1	2	3	2.112040	0	0.570000	1.860000	0.572437	0.940000	7.800000e-01	1.000000	1.000000	0.934538	0.940000	1	8.600000e-01	1.000000
PPP2R2C	5522	broad.mit.edu	37	4	6380234	6380234	+	Silent	SNP	C	C	T	rs147944662	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:6380234C>T	ENST00000382599.4	-	3	450	c.234G>A	c.(232-234)ccG>ccA	p.P78P	PPP2R2C_ENST00000515571.1_Silent_p.P61P|PPP2R2C_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000507294.1_Silent_p.P71P|PPP2R2C_ENST00000335585.5_Silent_p.P78P			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma			28					AGTCAAACTCCGGCTCGTGGC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000382599.4	0	1	hg19																																																																																					TCGA-US-A779-01A-11D-A32N-08	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	0	0	0	13	600	0	127	0	7.757388e-03	0	6	0	127	2		0	0	0	0	0	2	1	0.999522	12	598	0	126	2		0	0	0	0	127	2	-2.329434	0	1	121412	13	46	1	1	2	3	2.112040	0	0.570000	1.860000	0.572437	0.070000	3.000000e-02	0.130000	0.080000	0.089242	0.070000	0	5.000000e-02	0.100000
MMRN1	22915	broad.mit.edu	37	4	90872802	90872802	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:90872802G>A	ENST00000394980.1	+	8	3484	c.3165G>A	c.(3163-3165)acG>acA	p.T1055T	MMRN1_ENST00000394981.1_Silent_p.T358T|MMRN1_ENST00000264790.2_Silent_p.T1055T|MMRN1_ENST00000508372.1_Silent_p.T797T			Q13201	MMRN1_HUMAN	multimerin 1			72		Hepatocellular(203;0.114)			ATGGGGGCACGTGCATAAATG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000394980.1	1	1	hg19	CCDS3635.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	1	0	1	95	178	0	39	0	7.612792e-01	0	7	0	39	2		0	0	0	0	0	2	1	1.000000	95	176	0	38	2		0	0	0	0	39	2	-11.634040	1	1	121396	3	36	1	1	2	3	2.112040	0	0.570000	1.860000	0.572437	0.990000	9.900000e-01	1.000000	1.000000	0.999680	0.990000	1	9.900000e-01	1.000000
CMYA5	202333	broad.mit.edu	37	5	79026738	79026738	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:79026738G>A	ENST00000446378.2	+	2	2181	c.2150G>A	c.(2149-2151)cGt>cAt	p.R717H		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)			ACAATTGACCGTAAGTCCCCG	0.448000																								0							SO:0001583	missense			ENST00000446378.2	0	1	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	g	8.935	0.964478	0.18583	.	.	ENSG00000164309	ENST00000446378	T	0.46451	0.87	5.56	-11.1	0.00147	.	1.948280	0.02137	N	0.056869	T	0.08179	0.0204	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38394	-0.9663	10	0.30078	T	0.28	.	1.3491	0.02169	0.16:0.331:0.2504:0.2586	.	717	Q8N3K9	CMYA5_HUMAN	H	717	ENSP00000394770:R717H	ENSP00000394770:R717H	R	+	2	0	CMYA5	79062494	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.582000	0.02117	-2.338000	0.00627	-1.007000	0.02485	CGT		TCGA-US-A779-01A-11D-A32N-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	0	0	0	4	197	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	0.891217	4	197	0	54	2		0	0	0	0	55	2	-3.010015	1	1	120868	5	38	1	0	1	1	1.593299	1	0.570000	1.860000	0.432531	0.050000	1.000000e-02	0.130000	0.050000	0.065064	0.050000	0	3.000000e-02	0.090000
NR2F1	7025	broad.mit.edu	37	5	92921011	92921011	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:92921011C>T	ENST00000327111.3	+	1	1969	c.282C>T	c.(280-282)agC>agT	p.S94S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1			21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)			ACAAGTCGAGCGGCAAGCACT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000327111.3	0	1	hg19	CCDS4068.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	0	0	0	4	51	0	21	0	7.128013e-02	0	5	0	21	2		0	0	0	0	0	2	1	0.888536	4	50	0	21	2		0	0	0	0	21	2	-8.529821	1	1	0	0		1	0	1	1	1.593299	1	0.570000	1.860000	0.432531	0.200000	7.000000e-02	0.430000	0.190000	0.227761	0.200000	0	1.200000e-01	0.320000
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase			15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)		TGGTTTCGCCGCAAATGGCAA	0.433000																								0							SO:0001583	missense			ENST00000344419.3	0	1	hg19	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		TCGA-US-A779-01A-11D-A32N-08	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	0	0	0	5	299	0	75	0	5.741988e-02	0	19	0	75	2		0	0	0	0	0	2	1	0.938043	5	299	0	74	2		0	0	0	0	75	2	-2.001450	0	1	121412	3	38	1	0	1	1	1.677508	1	0.570000	1.860000	0.443005	0.040000	1.000000e-02	0.100000	0.050000	0.052904	0.040000	0	2.000000e-02	0.070000
ZNF184	7738	broad.mit.edu	37	6	27420760	27420760	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:27420760A>T	ENST00000211936.6	-	6	862	c.578T>A	c.(577-579)cTt>cAt	p.L193H	ZNF184_ENST00000377419.1_Missense_Mutation_p.L193H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184			48					TTGTGTTACAAGGTTTGAACT	0.368000																								0							SO:0001583	missense			ENST00000211936.6	1	1	hg19	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222112	0.58560	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.08370	3.1;3.1	5.32	0.257	0.15574	.	0.879076	0.09630	N	0.776357	T	0.06371	0.0164	M	0.91300	3.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	10	0.54805	T	0.06	.	7.6793	0.28505	0.642:0.0:0.358:0.0	.	193	Q99676	ZN184_HUMAN	H	193	ENSP00000211936:L193H;ENSP00000366636:L193H	ENSP00000211936:L193H	L	-	2	0	ZNF184	27528739	0.003000	0.15002	0.002000	0.10522	0.577000	0.36160	1.919000	0.40015	0.147000	0.19030	0.454000	0.30748	CTT		TCGA-US-A779-01A-11D-A32N-08	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	1	0	1	73	566	0	141	1	1.898061e-01	2	5	0	141	2		0	0	0	0	0	2	1	1.000000	72	560	0	138	2		0	0	0	0	141	2	-20.000000	1	1	0	0		1	0	1	1	1.601799	1	0.570000	1.860000	0.445054	0.300000	2.400000e-01	0.380000	0.310000	0.313255	0.300000	0	2.700000e-01	0.350000
C4A	720	broad.mit.edu	37	6	31964274	31964274	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:31964274C>T	ENST00000428956.2	+	28	3657	c.3573C>T	c.(3571-3573)caC>caT	p.H1191H	C4A_ENST00000498271.1_Silent_p.H1191H	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)							Intravenous Immunoglobulin(DB00028)	TGGGTGCCCACGCAGCTGCCA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000428956.2	1	1	hg19	CCDS47404.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	0	0	0	18	517	0	158	0	5.422706e-01	0	52	0	158	2		0	0	0	0	0	2	1	0.999976	18	498	0	172	2		0	0	0	0	158	2	-16.110340	1	0	120696	7	40	1	0	0	0	2.009721	0	0.570000	1.860000	0.544008	0.100000	6.000000e-02	0.170000	0.110000	0.116895	0.100000	0	8.000000e-02	0.140000
FAM3C	10447	broad.mit.edu	37	7	120991269	120991269	+	Silent	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:120991269A>T	ENST00000359943.3	-	9	735	c.522T>A	c.(520-522)acT>acA	p.T174T		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C			9	all_neural(327;0.117)				AACCAAGATTAGTAATAGATG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000359943.3	1	1	hg19	CCDS5782.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	1	0	1	51	190	0	47	1	9.993122e-01	18	26	0	47	2		0	0	0	0	0	2	1	1.000000	51	188	0	48	2		0	0	0	0	47	2	-20.000000	1	1	0	0		1	1	2	3	2.102114	0	0.570000	1.860000	0.571222	0.740000	5.700000e-01	0.940000	0.740000	0.750470	0.740000	0	6.500000e-01	0.840000
CNTNAP2	26047	broad.mit.edu	37	7	147600759	147600759	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:147600759G>A	ENST00000361727.3	+	14	2717	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2			188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		GGCATCGAACGCAACTGCACA	0.582000										HNSCC(39;0.1)														0							SO:0001583	missense			ENST00000361727.3	0	1	hg19	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119856	0.56613	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.09723	2.95;2.95	5.7	5.7	0.88788	.	0.066576	0.64402	D	0.000013	T	0.12092	0.0294	L	0.38838	1.175	0.80722	D	1	B	0.17268	0.021	B	0.11329	0.006	T	0.05683	-1.0870	10	0.41790	T	0.15	.	18.4119	0.90554	0.0:0.0:1.0:0.0	.	734	Q9UHC6	CNTP2_HUMAN	H	734;125	ENSP00000354778:R734H;ENSP00000392208:R125H	ENSP00000354778:R734H	R	+	2	0	CNTNAP2	147231692	0.993000	0.37304	0.913000	0.36048	0.923000	0.55619	4.880000	0.63107	2.700000	0.92200	0.563000	0.77884	CGC		TCGA-US-A779-01A-11D-A32N-08	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	0	0	0	4	118	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	0.889673	4	117	0	29	2		0	0	0	0	29	2	-6.706039	1	1	0	0		1	1	2	3	2.091234	0	0.570000	1.860000	0.571222	0.120000	3.000000e-02	0.280000	0.120000	0.141018	0.120000	0	7.000000e-02	0.200000
VWC2	375567	broad.mit.edu	37	7	49815696	49815696	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:49815696G>A	ENST00000340652.4	+	2	1221	c.665G>A	c.(664-666)gGc>gAc	p.G222D		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2			8					GAGTTCCGGGGCAAGACCTAT	0.617000																								0							SO:0001583	missense			ENST00000340652.4	0	1	hg19	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334557	0.81801	.	.	ENSG00000188730	ENST00000340652	T	0.72615	-0.67	4.84	3.95	0.45737	von Willebrand factor, type C (3);	0.062437	0.64402	D	0.000006	T	0.78641	0.4315	M	0.66939	2.045	0.53005	D	0.999969	P	0.47962	0.903	P	0.57502	0.822	T	0.80425	-0.1388	10	0.59425	D	0.04	.	12.8246	0.57712	0.0796:0.0:0.9204:0.0	.	222	Q2TAL6	VWC2_HUMAN	D	222	ENSP00000341819:G222D	ENSP00000341819:G222D	G	+	2	0	VWC2	49786242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.650000	0.74368	2.383000	0.81215	0.561000	0.74099	GGC		TCGA-US-A779-01A-11D-A32N-08	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	1	0	0	7	19	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	0.985917	7	19	0	8	2		0	0	0	0	8	2	-16.875490	1	1	0	0		1	1	2	3	2.090908	0	0.570000	1.860000	0.571222	0.950000	4.600000e-01	1.000000	1.000000	0.873084	0.950000	1	6.800000e-01	1.000000
WBSCR17	64409	broad.mit.edu	37	7	70853388	70853388	+	Splice_Site	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:70853388G>T	ENST00000333538.5	+	3	1223		c.e3+1		WBSCR17_ENST00000498380.2_Splice_Site	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17			100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)			AGCGACGAAGGTACAGGGGTG	0.582000																								0							SO:0001630	splice_region_variant			ENST00000333538.5	0	1	hg19	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379837	0.42207	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9334	0.92576	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WBSCR17	70491324	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.588000	0.98232	2.782000	0.95742	0.655000	0.94253	.		TCGA-US-A779-01A-11D-A32N-08	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	0	0	0	5	215	0	43		0	0	0	0	43	2		0	0	0	0	0	2	0	0.933621	1	213	0	42	2		0	0	0	0	43	2	-6.570489	1	0	0	0		1	1	2	3	2.090908	0	0.570000	1.860000	0.571222	0.080000	2.000000e-02	0.180000	0.080000	0.094784	0.080000	0	5.000000e-02	0.130000
SEMA3D	223117	broad.mit.edu	37	7	84642125	84642125	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:84642125T>C	ENST00000284136.6	-	15	1784	c.1741A>G	c.(1741-1743)Atc>Gtc	p.I581V	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D			73					CACTGGGTGATTGGGTCGCCA	0.393000													Ovarian(63;442 1191 17318 29975 31528)											0							SO:0001583	missense			ENST00000284136.6	0	1	hg19	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	4.555	0.102996	0.08731	.	.	ENSG00000153993	ENST00000284136	T	0.20881	2.04	5.93	5.93	0.95920	.	0.228496	0.49305	D	0.000147	T	0.08935	0.0221	N	0.10733	0.035	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	10	0.15499	T	0.54	.	5.1256	0.14882	0.0:0.1083:0.1805:0.7112	.	581	O95025	SEM3D_HUMAN	V	581	ENSP00000284136:I581V	ENSP00000284136:I581V	I	-	1	0	SEMA3D	84480061	0.744000	0.28250	0.998000	0.56505	0.601000	0.36947	1.112000	0.31172	2.265000	0.75225	0.533000	0.62120	ATC		TCGA-US-A779-01A-11D-A32N-08	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	0	0	0	7	308	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	0.979783	7	303	0	60	2		0	0	0	0	62	2	-7.850361	1	1	0	0		1	1	2	3	2.090908	0	0.570000	1.860000	0.571222	0.080000	3.000000e-02	0.160000	0.080000	0.088598	0.080000	0	5.000000e-02	0.120000
CSMD3	114788	broad.mit.edu	37	8	113697844	113697844	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:113697844C>T	ENST00000297405.5	-	15	2517	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	p.R758Q(1)		646					AAGATGTATCCGGCTCCCTGG	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														1	Substitution - Missense(1)						SO:0001583	missense			ENST00000297405.5	1	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606831	0.87157	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.96	5.96	0.96718	CUB (5);	0.000000	0.64402	D	0.000002	T	0.40297	0.1111	L	0.56199	1.76	0.43145	D	0.994906	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.994;0.998;0.999	T	0.00970	-1.1496	10	0.34782	T	0.22	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	654;758;718	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	718;758;98;654;758	ENSP00000345799:R718Q;ENSP00000297405:R758Q;ENSP00000341558:R98Q;ENSP00000412263:R654Q;ENSP00000343124:R758Q	ENSP00000297405:R758Q	R	-	2	0	CSMD3	113767020	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGG		TCGA-US-A779-01A-11D-A32N-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	77	355	1	90		0	0	0	1	90	2		0	0	0	0	0	2	1	1.000000	76	353	1	89	17		0	0	0	1	90	2	-2.553247	1	1	0	0		1	0	0	0	2.085231	0	0.570000	1.860000	0.570000	0.620000	5.000000e-01	0.750000	0.620000	0.629503	0.620000	0	5.500000e-01	0.690000
RAD21	5885	broad.mit.edu	37	8	117869572	117869572	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:117869572G>A	ENST00000297338.2	-	6	909	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)			32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)				TATTCTAAATGGTTAATTTTC	0.358000																								0							SO:0001583	missense			ENST00000297338.2	1	1	hg19	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458476	0.63401	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485	T;T;T	0.53857	0.6;1.51;1.51	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.62723	1.935	0.80722	D	1	D	0.54207	0.965	P	0.47827	0.558	T	0.63225	-0.6685	10	0.52906	T	0.07	-17.6597	19.717	0.96124	0.0:0.0:1.0:0.0	.	208	O60216	RAD21_HUMAN	Y	208	ENSP00000297338:H208Y;ENSP00000429342:H208Y;ENSP00000427923:H208Y	ENSP00000297338:H208Y	H	-	1	0	RAD21	117938753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.161000	0.94739	2.734000	0.93682	0.563000	0.77884	CAT		TCGA-US-A779-01A-11D-A32N-08	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	1	0	1	58	190	0	49	1	9.962710e-01	12	19	0	49	2		0	0	0	0	0	2	1	1.000000	57	189	0	49	2		0	0	0	0	49	2	-4.384192	1	1	0	0		1	0	0	0	2.085231	0	0.570000	1.860000	0.570000	0.810000	6.400000e-01	1.000000	0.820000	0.824074	0.810000	0	7.200000e-01	0.920000
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:135614834C>T	ENST00000377838.3	-	6	1302	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000520727.1_Silent_p.A364A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing			54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)		GTGGGTCATGCGCGTCTCGGA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000377838.3	0	1	hg19	CCDS47924.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	0	0	0	7	651	1	84	0	1.601149e-03	0	5	1	84	2		0	0	0	0	0	2	0	0.001391	7	647	1	84	24		0	0	0	1	84	2	-2.068181	0	1	121082	2	34	1	1	4	5	3.369021	1	0.570000	1.860000	0.735246	0.070000	1.000000e-02	1.000000	0.070000	0.243510	0.070000	0	3.000000e-02	1.000000
BMP1	649	broad.mit.edu	37	8	22064900	22064900	+	Missense_Mutation	SNP	C	C	T	rs150161793		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:22064900C>T	ENST00000306385.5	+	18	3116	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1			30					CGCCAAGGCCCCCGTCCTCGG	0.627000																								0							SO:0001583	missense			ENST00000306385.5	1	1	hg19	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927502	0.73327	.	.	ENSG00000168487	ENST00000306385	T	0.30182	1.54	5.26	4.38	0.52667	CUB (5);	0.412825	0.17745	U	0.163437	T	0.34193	0.0889	L	0.48986	1.54	0.80722	D	1	B	0.23540	0.087	B	0.33690	0.168	T	0.08166	-1.0735	10	0.33141	T	0.24	.	14.7938	0.69863	0.0:0.8544:0.1456:0.0	.	816	P13497	BMP1_HUMAN	S	816	ENSP00000305714:P816S	ENSP00000305714:P816S	P	+	1	0	BMP1	22120845	0.989000	0.36119	0.182000	0.23118	0.911000	0.54048	4.070000	0.57548	1.204000	0.43247	0.561000	0.74099	CCC		TCGA-US-A779-01A-11D-A32N-08	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	1	0	1	126	471	0	141	1	9.955004e-01	8	25	0	141	2		0	0	0	0	0	2	1	1.000000	125	467	0	141	2		0	0	0	0	141	2	-3.940958	1	1	121410	21	47	1	0	0	0	2.085231	0	0.570000	1.860000	0.570000	0.730000	6.200000e-01	0.850000	0.740000	0.742986	0.730000	0	6.700000e-01	0.800000
ALG13	79868	broad.mit.edu	37	X	110980099	110980099	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:110980099G>A	ENST00000394780.3	+	23	2699	c.2687G>A	c.(2686-2688)gGc>gAc	p.G896D	ALG13_ENST00000251943.4_Missense_Mutation_p.G792D|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit			13					CCTACACACGGCAGGCCAGGT	0.433000																								0							SO:0001583	missense			ENST00000394780.3	0	1	hg19	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841823	0.32513	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.33865	1.39;3.01	5.49	2.7	0.31948	.	0.548871	0.20332	N	0.094419	T	0.48150	0.1484	L	0.58101	1.795	0.09310	N	1	B;B;D	0.67145	0.082;0.049;0.996	B;B;P	0.62184	0.04;0.018;0.899	T	0.33085	-0.9882	10	0.28530	T	0.3	1.5933	10.6013	0.45369	0.2322:0.0:0.7678:0.0	.	818;896;792	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	D	792;896;529	ENSP00000251943:G792D;ENSP00000378260:G896D	ENSP00000251943:G792D	G	+	2	0	ALG13	110866755	0.055000	0.20627	0.049000	0.19019	0.885000	0.51271	0.494000	0.22467	0.596000	0.29794	0.600000	0.82982	GGC		TCGA-US-A779-01A-11D-A32N-08	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	0	0	0	6	820	0	140	0	4.195645e-03	0	11	0	140	2		0	0	0	0	0	2	1	0.963970	7	811	0	138	2		0	0	0	0	140	2	-2.148112	0	1	0	0		1	0	1	1			0.570000	1.860000	0.570000	0.020000	0	0.060000	0.020000	0.028478	0.020000	0	0	0.040000
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380043.3_Silent_p.C249C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)			10	Hepatocellular(33;0.183)				TTGCATTATGCCCTCTTGTCG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000380041.3	0	1	hg19	CCDS35210.1																																																																																				TCGA-US-A779-01A-11D-A32N-08	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	0	0	0	7	1381	0	294	0	7.634997e-04	0	7	0	294	2		0	0	0	0	0	2	1	0.979585	7	1362	0	289	2		0	0	0	0	294	2	-1.744626	0	1	0	0		1	0	1	1			0.570000	1.860000	0.570000	0.010000	0	0.040000	0.020000	0.020859	0.010000	0	0	0.030000
BEND2	139105	broad.mit.edu	37	X	18183254	18183254	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:18183254G>A	ENST00000380033.4	-	14	2407	c.2275C>T	c.(2275-2277)Cgt>Tgt	p.R759C		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2			49					CTAAGGCTACGGATACCGCTG	0.517000																								0							SO:0001583	missense			ENST00000380033.4	1	1	hg19	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879159	0.51801	.	.	ENSG00000177324	ENST00000380033	T	0.52295	0.67	5.69	1.73	0.24493	BEN domain (2);	0.351432	0.26065	N	0.026542	T	0.34774	0.0909	L	0.52759	1.655	0.09310	N	1	D	0.53151	0.958	B	0.39027	0.288	T	0.32719	-0.9896	10	0.87932	D	0	-1.0766	5.6482	0.17602	0.2622:0.138:0.5998:0.0	.	759	Q8NDZ0	BEND2_HUMAN	C	759	ENSP00000369372:R759C	ENSP00000369372:R759C	R	-	1	0	BEND2	18093175	0.107000	0.21998	0.000000	0.03702	0.028000	0.11728	0.794000	0.26958	-0.077000	0.12752	-0.268000	0.10319	CGT		TCGA-US-A779-01A-11D-A32N-08	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	1	0	1	215	731	0	227		0	0	0	0	227	2		0	0	0	0	0	2	1	1.000000	215	722	1	227	15		0	0	0	0	227	2	-4.407056	1	1	0	0		1	0	1	1			0.570000	1.860000	0.570000	0.790000	7.000000e-01	0.890000	0.800000	0.798826	0.790000	0	7.400000e-01	0.850000
USP51	158880	broad.mit.edu	37	X	55515068	55515068	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:55515068C>T	ENST00000500968.3	-	2	387	c.305G>A	c.(304-306)cGc>cAc	p.R102H	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51			30					gcggggCTTGCGGCGCGGGCA	0.761000																								0							SO:0001583	missense			ENST00000500968.3	0	1	hg19	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.283264	0.23392	.	.	ENSG00000247746	ENST00000500968	T	0.10192	2.9	2.65	1.75	0.24633	.	0.980712	0.08228	U	0.978061	T	0.10252	0.0251	N	0.24115	0.695	0.26858	N	0.968015	P	0.52170	0.951	P	0.47044	0.535	T	0.29912	-0.9996	10	0.87932	D	0	.	6.2296	0.20728	0.2943:0.7057:0.0:0.0	.	102	Q70EK9	UBP51_HUMAN	H	102	ENSP00000423333:R102H	ENSP00000423333:R102H	R	-	2	0	USP51	55531793	0.994000	0.37717	0.972000	0.41901	0.020000	0.10135	0.821000	0.27338	0.514000	0.28300	0.502000	0.49764	CGC		TCGA-US-A779-01A-11D-A32N-08	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	0	0	0	4	76	0	16	0	0	0	1	0	16	2		0	0	0	0	0	2	1	0.892146	4	76	0	16	2		0	0	0	0	16	2	-7.929337	1	1	0	0		1	0	1	1			0.570000	1.860000	0.570000	0.190000	6.000000e-02	0.400000	0.180000	0.211941	0.190000	0	1.100000e-01	0.300000
TAF1	6872	broad.mit.edu	37	X	70603864	70603864	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:70603864G>A	ENST00000373790.4	+	13	2048	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H	TAF1_ENST00000276072.3_Missense_Mutation_p.R687H|TAF1_ENST00000423759.1_Missense_Mutation_p.R687H|TAF1_ENST00000449580.1_Missense_Mutation_p.R666H	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa			124	Renal(35;0.156)	all_lung(315;0.000321)			TTTTTTATGCGCACACCTCAG	0.453000																								0							SO:0001583	missense			ENST00000373790.4	0	1	hg19	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	32	5.171413	0.94807	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10960	2.82;2.89;2.87;2.82	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.04140	-1.0974	10	0.87932	D	0	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	666;687	P21675;P21675-2	TAF1_HUMAN;.	H	666;666;687;687	ENSP00000362895:R666H;ENSP00000389000:R666H;ENSP00000406549:R687H;ENSP00000276072:R687H	ENSP00000276072:R687H	R	+	2	0	TAF1	70520589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.474000	0.83562	0.600000	0.82982	CGC		TCGA-US-A779-01A-11D-A32N-08	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	0	0	0	5	557	0	124	0	1.897229e-03	0	6	0	124	2		0	0	0	0	0	2	1	0.935720	5	550	0	123	2		0	0	0	0	124	2	-2.624227	1	1	0	0		1	0	1	1			0.570000	1.860000	0.570000	0.030000	0	0.070000	0.040000	0.036685	0.030000	0	1.000000e-02	0.050000
