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
DSC1	1823	broad.mit.edu	37	18	28725666	28725666	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:28725666delT	ENST00000257198.5	-	7	1108	c.847delA	c.(847-849)atcfs	p.I283fs	DSC1_ENST00000257197.3_Frame_Shift_Del_p.I283fs|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1			53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)		TGTTGTAAGATTTTATATTTC	0.413000																								0							SO:0001589	frameshift_variant			ENST00000257198.5	1	0	hg19	CCDS11894.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	1	0	0	82	445	0	68	0	0	0	0	0	0		0	0	0	0	0	0		1	1.000000	105	440	1	68	25	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.678323	1	0.370000	1.920000	0.228745	0.680000	5.500000e-01	0.820000	0.680000	0.688349	0.680000	0	6.100000e-01	0.750000
SFXN4	119559	broad.mit.edu	37	10	120914629	120914629	+	Missense_Mutation	SNP	G	G	A	rs151157939		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:120914629G>A	ENST00000355697.2	-	11	696	c.677C>T	c.(676-678)gCg>gTg	p.A226V	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.A217V	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4			11		Lung NSC(174;0.094)|all_lung(145;0.123)			GTCCATGACCGCAATCCCCTT	0.478000																								0							SO:0001583	missense			ENST00000355697.2	0	1	hg19	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	G	9.568	1.120310	0.20877	2.27E-4	1.16E-4	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T;T	0.30714	1.52;1.52;1.52	4.77	2.38	0.29361	.	0.608708	0.17108	N	0.186736	T	0.19005	0.0456	L	0.36672	1.1	0.09310	N	1	P	0.47677	0.899	B	0.38755	0.281	T	0.08806	-1.0704	10	0.33940	T	0.23	-8.9942	5.8839	0.18870	0.0:0.0913:0.1753:0.7334	.	226	Q6P4A7	SFXN4_HUMAN	V	226;217;109;110	ENSP00000347924:A226V;ENSP00000333200:A217V;ENSP00000358127:A110V	ENSP00000333200:A217V	A	-	2	0	SFXN4	120904619	0.189000	0.23263	0.799000	0.32177	0.166000	0.22503	0.232000	0.17891	0.867000	0.35654	-0.281000	0.10026	GCG		TCGA-HV-A7OL-01A-11D-A33T-08	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	0	0	0	5	417	0	71	0	3.595399e-01	0	91	0	71	2		0	0	0	0	0	2	1	0.936716	5	414	0	71	2		0	0	0	0	71	2	-2.100855	0	1	121412	17	45	1	1	2	3	2.054153	0	0.370000	1.920000	0.374628	0.060000	2.000000e-02	1.000000	0.060000	0.103322	0.060000	0	4.000000e-02	0.110000
CUBN	8029	broad.mit.edu	37	10	16919089	16919089	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:16919089G>A	ENST00000377833.4	-	57	8978	c.8913C>T	c.(8911-8913)tcC>tcT	p.S2971S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTCACAGCGGAACGAGCTG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000377833.4	0	1	hg19	CCDS7113.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	0	0	4	154	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	0.883673	4	149	0	27	2		0	0	0	0	28	2	-6.256320	1	1	121400	10	39	1	1	2	3	2.041138	0	0.370000	1.920000	0.372322	0.150000	4.000000e-02	0.360000	0.140000	0.175896	0.150000	0	9.000000e-02	0.240000
ARMC3	219681	broad.mit.edu	37	10	23250963	23250963	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:23250963G>A	ENST00000298032.5	+	7	772	c.688G>A	c.(688-690)Gac>Aac	p.D230N	ARMC3_ENST00000409983.3_Missense_Mutation_p.D230N|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.D230N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3			47					AATGCTAAGAGACAATCAAGG	0.368000																								0							SO:0001583	missense			ENST00000298032.5	1	1	hg19	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478799	0.63849	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049	T;T;T	0.19105	2.17;2.17;2.17	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.258007	0.43747	D	0.000526	T	0.22322	0.0538	L	0.38531	1.155	0.80722	D	1	B;B	0.28713	0.07;0.22	B;B	0.28991	0.055;0.097	T	0.02026	-1.1227	10	0.48119	T	0.1	-1.008	19.746	0.96252	0.0:0.0:1.0:0.0	.	230;230	Q5W041-4;Q5W041	.;ARMC3_HUMAN	N	230;230;166;230	ENSP00000298032:D230N;ENSP00000386943:D230N;ENSP00000387288:D230N	ENSP00000298032:D230N	D	+	1	0	ARMC3	23290969	1.000000	0.71417	0.953000	0.39169	0.899000	0.52679	5.700000	0.68318	2.673000	0.90976	0.650000	0.86243	GAC		TCGA-HV-A7OL-01A-11D-A33T-08	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	1	0	1	35	128	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1.000000	35	128	0	24	2		0	0	0	0	24	2	-20.000000	1	1	0	0		1	1	2	3	2.041138	0	0.370000	1.920000	0.372322	0.990000	8.400000e-01	1.000000	1.000000	0.987257	0.990000	1	9.900000e-01	1.000000
DUSP13	51207	broad.mit.edu	37	10	76855494	76855494	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:76855494G>A	ENST00000472493.2	-	3	311	c.233C>T	c.(232-234)gCc>gTc	p.A78V	DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000491677.2_Missense_Mutation_p.A207V|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13			8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)				GCCTGCAGCGGCATTCACAAC	0.577000													NSCLC(174;1655 2059 12324 40663 42963)											0							SO:0001583	missense			ENST00000472493.2	0	1	hg19	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	G	8.989	0.977271	0.18812	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.60548	0.42;0.42;0.42;0.18;0.42	5.11	-2.7	0.06004	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.348638	0.33235	N	0.005130	T	0.30947	0.0781	N	0.13198	0.31	0.31631	N	0.648985	B;P;P	0.41265	0.342;0.678;0.744	B;B;B	0.36534	0.092;0.137;0.227	T	0.48198	-0.9056	10	0.14656	T	0.56	-2.9419	12.3709	0.55254	0.2733:0.0:0.7267:0.0	.	128;207;78	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	V	78;78;207;171;78;128	ENSP00000311051:A78V;ENSP00000444580:A78V;ENSP00000436312:A207V;ENSP00000434041:A78V;ENSP00000361785:A128V	ENSP00000311051:A78V	A	-	2	0	DUSP13	76525500	0.981000	0.34729	0.126000	0.21872	0.401000	0.30781	2.524000	0.45589	-0.319000	0.08652	-0.150000	0.13652	GCC		TCGA-HV-A7OL-01A-11D-A33T-08	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3	0	0	0	6	750	1	129		0	0	0	1	129	2		0	0	0	0	0	2	0	0.004092	6	744	1	127	20		0	0	0	1	129	2	-1.584131	0	1	0	0		1	1	2	3	2.054153	0	0.370000	1.920000	0.374628	0.040000	0	1.000000	0.040000	0.077478	0.040000	0	2.000000e-02	0.070000
NCAM1	4684	broad.mit.edu	37	11	113078690	113078690	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:113078690C>T	ENST00000533760.1	+	7	1127	c.528C>T	c.(526-528)ggC>ggT	p.G176G	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G293G|NCAM1_ENST00000316851.7_Silent_p.G284G	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1			49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)			ACAAGGCTGGCGAGCAGGATG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000533760.1	0	1	hg19																																																																																					TCGA-HV-A7OL-01A-11D-A33T-08	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	1	0	1	18	72	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	0.999990	18	71	0	8	2		0	0	0	0	8	2	-20.000000	1	1	0	0		1	1	2	3	2.043829	0	0.370000	1.920000	0.372322	0.990000	6.900000e-01	1.000000	1.000000	0.954463	0.990000	1	8.700000e-01	1.000000
CBL	867	broad.mit.edu	37	11	119148958	119148958	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119148958T>C	ENST00000264033.4	+	8	1554	c.1178T>C	c.(1177-1179)aTt>aCt	p.I393T		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	p.E366_Q409del(13)|p.E369_Q409del(1)|p.?(1)|p.E366_K477del(1)		251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)			GATGTAAAGATTGAGCCCTGT	0.368000			T, Mis S, O	MLL	AML, JMML, MDS				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies						Dom, Rec	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	16	Deletion - In frame(15)|Unknown(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;CBL-associated JMML	ENST00000264033.4	0	1	hg19	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515433	0.64634	.	.	ENSG00000110395	ENST00000264033	D	0.96011	-3.88	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97019	0.9742	10	0.87932	D	0	-15.1332	15.9527	0.79855	0.0:0.0:0.0:1.0	.	393	P22681	CBL_HUMAN	T	393	ENSP00000264033:I393T	ENSP00000264033:I393T	I	+	2	0	CBL	118654168	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	7.655000	0.83696	2.227000	0.72691	0.455000	0.32223	ATT		TCGA-HV-A7OL-01A-11D-A33T-08	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	0	0	0	6	462	0	62	0	0	0	1	0	62	2		0	0	0	0	0	2	1	0.965426	6	463	0	62	2		0	0	0	0	62	2	-6.046258	1	1	121412	1	30	1	1	2	3	2.043829	0	0.370000	1.920000	0.372322	0.070000	2.000000e-02	0.160000	0.070000	0.089532	0.070000	0	4.000000e-02	0.110000
USP2	9099	broad.mit.edu	37	11	119230302	119230302	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119230302C>A	ENST00000260187.2	-	4	1188	c.894G>T	c.(892-894)agG>agT	p.R298S	USP2_ENST00000455332.2_Missense_Mutation_p.R55S|USP2_ENST00000525735.1_Missense_Mutation_p.R89S	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2			24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)			GCATGTAGAGCCTCTGGAGGC	0.582000																								0							SO:0001583	missense			ENST00000260187.2	0	1	hg19	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811636	0.32053	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.29655	1.56;1.56;1.56	5.28	2.31	0.28768	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.196121	0.52532	D	0.000067	T	0.17109	0.0411	N	0.25201	0.72	0.27590	N	0.949293	B;B;B	0.26483	0.15;0.048;0.0	B;B;B	0.28991	0.097;0.057;0.004	T	0.12760	-1.0535	10	0.34782	T	0.22	-7.6172	3.7498	0.08562	0.1619:0.4776:0.0:0.3605	.	55;298;89	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	S	55;298;45;89	ENSP00000407842:R55S;ENSP00000260187:R298S;ENSP00000436952:R89S	ENSP00000260187:R298S	R	-	3	2	USP2	118735512	0.993000	0.37304	0.995000	0.50966	0.905000	0.53344	1.262000	0.32992	0.339000	0.23719	-0.345000	0.07892	AGG		TCGA-HV-A7OL-01A-11D-A33T-08	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	0	0	0	4	235	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.889142	4	233	0	35	2		0	0	0	0	36	2	-5.459253	1	1	0	0		1	1	2	3	2.043829	0	0.370000	1.920000	0.372322	0.100000	2.000000e-02	0.240000	0.090000	0.120459	0.100000	0	5.000000e-02	0.160000
TTC17	55761	broad.mit.edu	37	11	43471655	43471655	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:43471655C>T	ENST00000039989.4	+	20	2824	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17			53					ATAGATTTTGCCACCCCTATA	0.473000																								0							SO:0001583	missense			ENST00000039989.4	0	1	hg19	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470025	0.84533	.	.	ENSG00000052841	ENST00000039989	T	0.34667	1.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.47716	1.5	0.80722	D	1	P	0.50443	0.935	B	0.43194	0.411	T	0.12116	-1.0560	10	0.42905	T	0.14	-13.769	20.1392	0.98050	0.0:1.0:0.0:0.0	.	937	Q96AE7	TTC17_HUMAN	V	937	ENSP00000039989:A937V	ENSP00000039989:A937V	A	+	2	0	TTC17	43428231	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.438000	0.80431	2.751000	0.94390	0.591000	0.81541	GCC		TCGA-HV-A7OL-01A-11D-A33T-08	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	0	0	0	6	687	0	94	0	7.013803e-03	0	12	0	94	2		0	0	0	0	0	2	1	0.964124	6	681	0	94	2		0	0	0	0	94	2	-1.908540	0	1	0	0		1	1	2	3	2.042277	0	0.370000	1.920000	0.372322	0.040000	1.000000e-02	0.110000	0.050000	0.063782	0.040000	0	2.000000e-02	0.080000
ZDHHC5	25921	broad.mit.edu	37	11	57466302	57466302	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:57466302A>G	ENST00000287169.3	+	11	2756	c.1394A>G	c.(1393-1395)aAt>aGt	p.N465S	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.N412S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5			18					CAGACACGCAATGGAAGCCTA	0.557000																								0							SO:0001583	missense			ENST00000287169.3	1	1	hg19	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918245	0.73098	0.0	1.16E-4	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.85013	-0.09;0.89;-1.93	5.09	5.09	0.68999	.	0.269487	0.37219	N	0.002189	D	0.84224	0.5425	L	0.37561	1.115	0.80722	D	1	P	0.42827	0.791	P	0.48873	0.593	D	0.85335	0.1092	10	0.52906	T	0.07	-19.2371	14.709	0.69215	1.0:0.0:0.0:0.0	.	465	Q9C0B5	ZDHC5_HUMAN	S	412;465;299	ENSP00000432202:N412S;ENSP00000287169:N465S;ENSP00000435722:N299S	ENSP00000287169:N465S	N	+	2	0	ZDHHC5	57222878	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	8.502000	0.90505	2.146000	0.66826	0.460000	0.39030	AAT		TCGA-HV-A7OL-01A-11D-A33T-08	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	1	0	1	48	238	0	52	1	9.999622e-01	22	56	0	52	2		0	0	0	0	0	2	1	1.000000	47	236	0	52	2		0	0	0	0	52	2	-20.000000	1	1	121412	2	34	1	1	2	3	2.043824	0	0.370000	1.920000	0.372322	0.910000	6.900000e-01	1.000000	1.000000	0.900437	0.910000	1	7.900000e-01	1.000000
CTNND1	1500	broad.mit.edu	37	11	57559074	57559074	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:57559074G>A	ENST00000399050.4	+	3	660	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000361332.4_Missense_Mutation_p.E42K|CTNND1_ENST00000529873.1_5'UTR|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000526938.1_Missense_Mutation_p.E42K|CTNND1_ENST00000530748.1_5'UTR|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000361796.4_Missense_Mutation_p.E42K|CTNND1_ENST00000428599.2_Missense_Mutation_p.E42K|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000358694.6_Missense_Mutation_p.E42K|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.E42K|CTNND1_ENST00000524630.1_Missense_Mutation_p.E42K|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000360682.6_Missense_Mutation_p.E42K|CTNND1_ENST00000399039.4_Missense_Mutation_p.E42K|CTNND1_ENST00000529919.1_Missense_Mutation_p.E42K|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000526357.1_5'UTR|CTNND1_ENST00000529526.1_5'UTR|CTNND1_ENST00000532649.1_5'UTR	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1			45		all_epithelial(135;0.155)			GGCGCAGCTGGAACGCGTCCG	0.637000																								0							SO:0001583	missense			ENST00000399050.4	1	1	hg19	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405970	0.83230	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000358694;ENST00000428599;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.62	5.62	0.85841	.	0.176390	0.50627	D	0.000116	T	0.35913	0.0948	L	0.59436	1.845	0.36574	D	0.873151	P;P;P;P;P;P	0.42248	0.774;0.774;0.665;0.774;0.762;0.665	B;B;B;B;B;B	0.39379	0.236;0.236;0.119;0.236;0.298;0.119	T	0.47484	-0.9114	10	0.72032	D	0.01	-9.2286	18.7943	0.91988	0.0:0.0:1.0:0.0	.	42;42;42;42;42;42	O60716-3;O60716-2;O60716;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.	K	42	ENSP00000436543:E42K;ENSP00000434808:E42K;ENSP00000381996:E42K;ENSP00000353902:E42K;ENSP00000354907:E42K;ENSP00000382004:E42K;ENSP00000354785:E42K;ENSP00000354823:E42K;ENSP00000351527:E42K;ENSP00000413586:E42K;ENSP00000432041:E42K	ENSP00000351527:E42K	E	+	1	0	CTNND1	57315650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.153000	0.89640	2.809000	0.96659	0.655000	0.94253	GAA		TCGA-HV-A7OL-01A-11D-A33T-08	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	1	0	1	37	198	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1.000000	37	196	0	40	2		0	0	0	0	41	2	-20.000000	1	1	0	0		1	1	2	3	2.043824	0	0.370000	1.920000	0.372322	0.850000	6.200000e-01	1.000000	1.000000	0.854491	0.850000	1	7.300000e-01	1.000000
ATG2A	23130	broad.mit.edu	37	11	64666137	64666137	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:64666137G>A	ENST00000377264.3	-	32	4754	c.4642C>T	c.(4642-4644)Cgg>Tgg	p.R1548W	ATG2A_ENST00000421419.2_Missense_Mutation_p.R1550W	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A			55					CGCGGCATCCGCTCACTCGTG	0.607000																								0							SO:0001583	missense			ENST00000377264.3	1	1	hg19	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.352957|4.352957	0.82132|0.82132	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07444	.|3.19;3.19	4.27|4.27	3.28|3.28	0.37604|0.37604	.|.	.|0.058658	.|0.64402	.|D	.|0.000003	T|T	0.17408|0.17408	0.0418|0.0418	L|L	0.47716|0.47716	1.5|1.5	0.38104|0.38104	D|D	0.937356|0.937356	.|D;D	.|0.76494	.|0.999;0.999	.|P;D	.|0.66084	.|0.874;0.941	T|T	0.00875|0.00875	-1.1531|-1.1531	5|10	.|0.66056	.|D	.|0.02	.|.	9.0664|9.0664	0.36467|0.36467	0.0:0.0:0.6774:0.3226|0.0:0.0:0.6774:0.3226	.|.	.|1548;1550	.|Q2TAZ0;Q2TAZ0-3	.|ATG2A_HUMAN;.	V|W	1351|1550;1548	.|ENSP00000410522:R1550W;ENSP00000366475:R1548W	.|ENSP00000366475:R1548W	A|R	-|-	2|1	0|2	ATG2A|ATG2A	64422713|64422713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	1.056000|1.056000	0.30480|0.30480	2.370000|2.370000	0.80446|0.80446	0.561000|0.561000	0.74099|0.74099	GCG|CGG		TCGA-HV-A7OL-01A-11D-A33T-08	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	1	0	1	70	278	0	53	1	8.813018e-01	7	10	0	53	2		0	0	0	0	0	2	1	1.000000	70	274	0	53	2		0	0	0	0	53	2	-3.482384	1	1	0	0		1	1	2	3	2.043829	0	0.370000	1.920000	0.372322	0.990000	8.700000e-01	1.000000	1.000000	0.987410	0.990000	1	9.700000e-01	1.000000
SYT12	91683	broad.mit.edu	37	11	66807334	66807334	+	Missense_Mutation	SNP	G	G	A	rs34985365		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:66807334G>A	ENST00000393946.2	+	7	1443	c.281G>A	c.(280-282)cGc>cAc	p.R94H	SYT12_ENST00000527043.1_Missense_Mutation_p.R94H|SYT12_ENST00000525457.1_Missense_Mutation_p.R94H|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII			20					CCACCCAGCCGCAAAGGCAGT	0.637000													Ovarian(65;2862 3307)											0							SO:0001583	missense			ENST00000393946.2	0	1	hg19	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840495	0.71488	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.14391	2.51;2.51;2.51	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.00787	-1.1566	10	0.52906	T	0.07	.	13.8906	0.63736	0.0:0.0:1.0:0.0	rs34985365	94	Q8IV01	SYT12_HUMAN	H	94	ENSP00000377520:R94H;ENSP00000431400:R94H;ENSP00000435316:R94H	ENSP00000377520:R94H	R	+	2	0	SYT12	66563910	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	9.228000	0.95250	2.655000	0.90218	0.462000	0.41574	CGC		TCGA-HV-A7OL-01A-11D-A33T-08	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	0	0	0	6	782	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	0.963202	7	768	0	120	2		0	0	0	0	122	2	-1.977436	0	1	121408	22	47	1	1	2	3	2.043829	0	0.370000	1.920000	0.372322	0.040000	0	0.100000	0.040000	0.057232	0.040000	0	2.000000e-02	0.070000
ARAP1	116985	broad.mit.edu	37	11	72404390	72404390	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:72404390G>A	ENST00000393609.3	-	29	4136	c.3934C>T	c.(3934-3936)Cgg>Tgg	p.R1312W	ARAP1_ENST00000429686.1_Missense_Mutation_p.R1006W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R1067W|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1067W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1072W|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1312W|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Missense_Mutation_p.R1312W|ARAP1-AS1_ENST00000542022.1_RNA	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1			27					TTGTAGAGCCGCAAGCAGCTG	0.612000													Ovarian(102;1198 1520 13195 17913 37529)											0							SO:0001583	missense			ENST00000393609.3	0	1	hg19	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234264	0.58886	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000542596	T;T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.74	2.51	0.30379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.120365	0.53938	D	0.000046	T	0.77545	0.4146	L	0.38175	1.15	0.42463	D	0.99279	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.985;1.0;0.994;0.978;0.975	T	0.77175	-0.2684	10	0.66056	D	0.02	.	9.5284	0.39178	0.0765:0.0:0.6605:0.263	.	1067;1006;1312;1312;1072	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	W	1312;1312;1072;1067;1312;1067;1006;116	ENSP00000352332:R1312W;ENSP00000390461:R1312W;ENSP00000377230:R1072W;ENSP00000335506:R1067W;ENSP00000377233:R1312W;ENSP00000392264:R1067W;ENSP00000403127:R1006W;ENSP00000441741:R116W	ENSP00000335506:R1067W	R	-	1	2	ARAP1	72082038	0.998000	0.40836	1.000000	0.80357	0.524000	0.34500	2.315000	0.43752	0.761000	0.33130	-0.266000	0.10368	CGG		TCGA-HV-A7OL-01A-11D-A33T-08	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	0	0	0	5	434	0	80	0	4.552617e-01	0	118	0	80	2		0	0	0	0	0	2	1	0.934813	5	426	0	80	2		0	0	0	0	80	2	-2.456572	0	1	121412	2	34	1	1	2	3	2.043829	0	0.370000	1.920000	0.372322	0.060000	1.000000e-02	0.150000	0.060000	0.082601	0.060000	0	3.000000e-02	0.100000
CREBZF	58487	broad.mit.edu	37	11	85375165	85375165	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:85375165T>C	ENST00000527447.1	-	1	981	c.755A>G	c.(754-756)gAg>gGg	p.E252G	CREBZF_ENST00000398294.2_Missense_Mutation_p.E170G|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor			9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)			TTTGCCCAGCTCCCGATTCTC	0.622000											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NSCLC(172;674 2044 9050 18334 41735)											0							SO:0001583	missense			ENST00000527447.1	1	1	hg19	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226321	0.39300	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	T;T	0.56611	0.45;0.45	4.89	4.89	0.63831	Basic-leucine zipper (bZIP) transcription factor (1);bZIP transcription factor, bZIP-1 (1);	0.096735	0.41938	D	0.000795	T	0.37128	0.0992	L	0.34521	1.04	0.34338	D	0.688429	B	0.24651	0.108	B	0.22386	0.039	T	0.45659	-0.9246	9	.	.	.	-7.8605	7.6471	0.28327	0.0:0.1284:0.0:0.8716	.	252	Q9NS37	ZHANG_HUMAN	G	170;252	ENSP00000381342:E170G;ENSP00000433459:E252G	.	E	-	2	0	CREBZF	85052813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.330000	0.52068	2.058000	0.61347	0.533000	0.62120	GAG		TCGA-HV-A7OL-01A-11D-A33T-08	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	1	0	1	245	1094	0	161	1	5.713735e-01	2	8	0	161	2		0	0	0	0	0	2	1	1.000000	243	1086	0	160	2		0	0	0	0	161	2	-20.000000	1	1	0	0		1	1	2	3	2.043829	0	0.370000	1.920000	0.372322	0.980000	8.700000e-01	1.000000	1.000000	0.974062	0.980000	1	9.300000e-01	1.000000
CUX2	23316	broad.mit.edu	37	12	111758041	111758041	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:111758041C>A	ENST00000261726.6	+	17	2382	c.2228C>A	c.(2227-2229)gCc>gAc	p.A743D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2			55					GGGGCCCCGGCCTTGGTGAAG	0.756000																								0							SO:0001583	missense			ENST00000261726.6	0	1	hg19	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316955	0.23908	.	.	ENSG00000111249	ENST00000261726	T	0.49432	0.78	4.22	4.22	0.49857	.	0.488256	0.23708	N	0.045351	T	0.34308	0.0893	L	0.36672	1.1	0.25926	N	0.983054	B	0.20052	0.041	B	0.16289	0.015	T	0.21109	-1.0255	10	0.52906	T	0.07	-3.2681	6.6322	0.22863	0.1789:0.7291:0.0:0.092	.	743	O14529	CUX2_HUMAN	D	743	ENSP00000261726:A743D	ENSP00000261726:A743D	A	+	2	0	CUX2	110242424	0.985000	0.35326	0.297000	0.24988	0.186000	0.23388	3.416000	0.52707	1.909000	0.55274	0.485000	0.47835	GCC		TCGA-HV-A7OL-01A-11D-A33T-08	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	1	0	0	12	60	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	0.999279	11	59	0	8	2		0	0	0	0	8	2	-20.000000	1	1	0	0		1	0	0	0	1.996170	0	0.370000	1.920000	0.358125	0.880000	5.000000e-01	1.000000	1.000000	0.854981	0.880000	1	6.700000e-01	1.000000
DDX47	51202	broad.mit.edu	37	12	12980302	12980302	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:12980302C>T	ENST00000358007.3	+	11	1251	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	DDX47_ENST00000352940.4_Missense_Mutation_p.A361V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47			16		Prostate(47;0.0526)			CAAAGGTTTGCCCGAATGGTA	0.428000																								0							SO:0001583	missense			ENST00000358007.3	0	1	hg19	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628472	0.67015	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.28454	2.38;1.61	5.75	4.86	0.63082	.	0.055390	0.64402	D	0.000001	T	0.43299	0.1241	M	0.66378	2.025	0.80722	D	1	B;B	0.25850	0.115;0.136	B;B	0.41236	0.351;0.164	T	0.34378	-0.9831	10	0.35671	T	0.21	-11.3685	14.979	0.71299	0.0:0.9316:0.0:0.0684	.	361;410	G5E955;Q9H0S4	.;DDX47_HUMAN	V	361;410	ENSP00000319578:A361V;ENSP00000350698:A410V	ENSP00000319578:A361V	A	+	2	0	DDX47	12871569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.531000	0.81973	1.435000	0.47434	0.655000	0.94253	GCC		TCGA-HV-A7OL-01A-11D-A33T-08	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	0	0	0	6	938	0	167	0	3.881578e-01	1	185	0	167	2		0	0	0	0	0	2	1	0.963723	6	927	0	167	2		0	0	0	0	167	2	-2.068352	0	1	0	0		1	0	0	0	2.015189	0	0.370000	1.920000	0.365303	0.030000	0	0.070000	0.040000	0.039324	0.030000	0	1.000000e-02	0.060000
GPR133	283383	broad.mit.edu	37	12	131487822	131487822	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:131487822C>T	ENST00000261654.5	+	10	1678	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	GPR133_ENST00000535015.1_Silent_p.T405T|GPR133_ENST00000376682.4_Silent_p.T59T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133			67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				CCCAGGTCACCGTGGAGGGCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000261654.5	1	1	hg19	CCDS9272.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	1	0	1	94	358	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1.000000	92	354	0	83	2		0	0	0	0	84	2	-3.239418	1	1	121412	1	41	1	0	0	0	1.996170	0	0.370000	1.920000	0.358125	0.990000	9.000000e-01	1.000000	1.000000	0.992881	0.990000	1	9.900000e-01	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HV-A7OL-01A-11D-A33T-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	27	84	0	15	1	6.841510e-01	4	5	0	15	2	1	1	90	515	0	482	2	1	1.000000	27	84	0	15	2	1	1	1593	6419	0	15	2	-19.927250	1	1	121404	2	44	1	0	0	0	2.015189	0	0.370000	1.920000	0.365303	0.990000	9.000000e-01	1.000000	1.000000	0.994640	0.990000	1	9.900000e-01	1.000000
PFKM	5213	broad.mit.edu	37	12	48536575	48536575	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:48536575G>A	ENST00000312352.7	+	18	1703	c.1664G>A	c.(1663-1665)cGc>cAc	p.R555H	PFKM_ENST00000340802.6_Missense_Mutation_p.R626H|PFKM_ENST00000359794.5_Missense_Mutation_p.R555H|PFKM_ENST00000547587.1_Missense_Mutation_p.R555H|PFKM_ENST00000395233.2_Missense_Mutation_p.R524H|PFKM_ENST00000551804.1_Missense_Mutation_p.R524H	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle			35					ACCTGTGACCGCATCAAGCAG	0.488000																								0							SO:0001583	missense			ENST00000312352.7	0	1	hg19	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795504	0.90453	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352;ENST00000546465	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.21	4.31	0.51392	Phosphofructokinase domain (2);	0.049858	0.85682	D	0.000000	D	0.91462	0.7305	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.953;0.933	D	0.93406	0.6764	10	0.62326	D	0.03	-12.3227	15.1275	0.72494	0.0:0.0:0.8573:0.1427	.	524;555;626	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	H	626;555;524;524;555;555;170	ENSP00000345771:R626H;ENSP00000352842:R555H;ENSP00000378656:R524H;ENSP00000448177:R524H;ENSP00000449426:R555H;ENSP00000309438:R555H;ENSP00000446519:R170H	ENSP00000309438:R555H	R	+	2	0	PFKM	46822842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.758000	0.85224	1.541000	0.49316	0.655000	0.94253	CGC		TCGA-HV-A7OL-01A-11D-A33T-08	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	0	0	0	7	615	0	87	0	1.304132e-01	0	48	0	87	2		0	0	0	0	0	2	1	0.980241	7	611	0	87	2		0	0	0	0	87	2	-1.868052	0	1	121412	5	39	1	0	0	0	2.015189	0	0.370000	1.920000	0.365303	0.060000	2.000000e-02	0.120000	0.060000	0.068618	0.060000	0	3.000000e-02	0.090000
CCNT1	904	broad.mit.edu	37	12	49087735	49087735	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:49087735G>A	ENST00000261900.3	-	9	1484	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1			27					ATTCTGGGCAGCATATGCATA	0.463000																								0							SO:0001583	missense			ENST00000261900.3	0	1	hg19	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619480	0.66787	.	.	ENSG00000129315	ENST00000261900	T	0.20598	2.06	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.49126	1.545	0.58432	D	0.999998	P	0.41929	0.765	B	0.37198	0.243	T	0.03112	-1.1071	10	0.62326	D	0.03	-14.5086	18.0305	0.89282	0.0:0.0:1.0:0.0	.	421	O60563	CCNT1_HUMAN	V	421	ENSP00000261900:A421V	ENSP00000261900:A421V	A	-	2	0	CCNT1	47374002	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.377000	0.73145	2.634000	0.89283	0.561000	0.74099	GCT		TCGA-HV-A7OL-01A-11D-A33T-08	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	0	0	0	6	801	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	0.964503	6	797	0	129	2		0	0	0	0	130	2	-2.545472	1	1	0	0		1	0	0	0	2.015189	0	0.370000	1.920000	0.365303	0.030000	0	0.090000	0.040000	0.046258	0.030000	0	2.000000e-02	0.060000
OSBPL8	114882	broad.mit.edu	37	12	76791663	76791663	+	Silent	SNP	T	T	C	rs35436760	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:76791663T>C	ENST00000261183.3	-	8	962	c.483A>G	c.(481-483)ctA>ctG	p.L161L	OSBPL8_ENST00000393249.2_Silent_p.L119L|OSBPL8_ENST00000393250.4_Silent_p.L119L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8			28					TCCAGCTCTTTAGAGTACCAC	0.363000																								0							SO:0001819	synonymous_variant			ENST00000261183.3	1	1	hg19	CCDS31862.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	1	0	1	58	225	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1.000000	58	223	0	42	2		0	0	0	0	43	2	-2.963092	1	1	121412	122	52	1	0	0	0	1.996170	0	0.370000	1.920000	0.358125	0.990000	8.400000e-01	1.000000	1.000000	0.983462	0.990000	1	9.500000e-01	1.000000
ANKS1B	56899	broad.mit.edu	37	12	99640630	99640630	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:99640630C>T	ENST00000547776.2	-	13	1768	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	ANKS1B_ENST00000329257.7_Missense_Mutation_p.R590Q|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R170Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B			70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)			GTCATCCTGTCGGGAGAGGTC	0.468000																								0							SO:0001583	missense			ENST00000547776.2	1	1	hg19	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	0.986	-0.695588	0.03279	0.0	1.22E-4	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.58358	1.15;0.34;1.16;1.06	5.76	3.26	0.37387	.	0.838349	0.10666	N	0.648107	T	0.23289	0.0563	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11966	-1.0566	9	.	.	.	-5.1323	5.7192	0.17978	0.1489:0.0808:0.0:0.7703	.	556;170;590	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	Q	590;170;590;169;556	ENSP00000449629:R590Q;ENSP00000448512:R170Q;ENSP00000331381:R590Q;ENSP00000449894:R556Q	.	R	-	2	0	ANKS1B	98164761	0.847000	0.29606	0.995000	0.50966	0.026000	0.11368	0.765000	0.26546	1.124000	0.41980	-0.238000	0.12139	CGA		TCGA-HV-A7OL-01A-11D-A33T-08	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	1	0	1	157	678	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1.000000	156	673	0	114	2		0	0	0	0	114	2	-3.319627	1	1	120690	24	48	1	0	0	0	1.996170	0	0.370000	1.920000	0.358125	0.990000	8.500000e-01	1.000000	1.000000	0.970987	0.990000	1	9.200000e-01	1.000000
IRS2	8660	broad.mit.edu	37	13	110434482	110434482	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:110434482C>T	ENST00000375856.3	-	1	4433	c.3919G>A	c.(3919-3921)Ggg>Agg	p.G1307R		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2			19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		CCCGGCCCCCCGCACCCGCCG	0.692000													Melanoma(100;613 2409 40847)											0							SO:0001583	missense			ENST00000375856.3	0	1	hg19	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464796	0.26335	.	.	ENSG00000185950	ENST00000375856	T	0.59906	0.23	4.12	3.25	0.37280	.	0.226724	0.22451	U	0.059897	T	0.35128	0.0921	N	0.24115	0.695	0.09310	N	0.999996	P	0.42961	0.795	B	0.28709	0.093	T	0.19257	-1.0311	10	0.51188	T	0.08	-15.5233	10.7615	0.46268	0.1915:0.8085:0.0:0.0	.	1307	Q9Y4H2	IRS2_HUMAN	R	1307	ENSP00000365016:G1307R	ENSP00000365016:G1307R	G	-	1	0	IRS2	109232483	0.998000	0.40836	0.189000	0.23252	0.049000	0.14656	1.090000	0.30902	0.910000	0.36722	0.462000	0.41574	GGG		TCGA-HV-A7OL-01A-11D-A33T-08	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	1	0	0	25	109	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	1.000000	24	105	0	10	2		0	0	0	0	10	2	-3.527049	1	1	0	0		1	1	2	3	2.033455	0	0.370000	1.920000	0.371163	0.990000	6.800000e-01	1.000000	1.000000	0.939419	0.990000	1	8.300000e-01	1.000000
YLPM1	56252	broad.mit.edu	37	14	75230759	75230759	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:75230759G>A	ENST00000552421.1	+	1	691	c.567G>A	c.(565-567)ccG>ccA	p.P189P	YLPM1_ENST00000238571.3_Silent_p.P189P|YLPM1_ENST00000325680.7_Silent_p.P189P			P49750	YLPM1_HUMAN	YLP motif containing 1			62			KIRC - Kidney renal clear cell carcinoma(43;0.238)		CTGCTCAGCCGTCCCCTTCGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000552421.1	0	1	hg19																																																																																					TCGA-HV-A7OL-01A-11D-A33T-08	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	0	0	0	5	469	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	0.933172	5	456	0	50	2		0	0	0	0	51	2	-2.767071	1	1	0	0		1	0	1	1	2.024830	0	0.370000	1.920000	0.368832	0.050000	1.000000e-02	0.130000	0.060000	0.067752	0.050000	0	3.000000e-02	0.090000
STON2	85439	broad.mit.edu	37	14	81743580	81743580	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:81743580G>A	ENST00000267540.2	-	4	2275	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	STON2_ENST00000555447.1_Missense_Mutation_p.T692M|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2			34					ACTTGTGGCCGTCCTGAGTGT	0.557000																								0							SO:0001583	missense			ENST00000267540.2	0	1	hg19	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572943	0.45798	2.27E-4	0.0	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.19105	2.17;2.17	6.06	6.06	0.98353	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	M	0.65498	2.005	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.27054	-1.0085	10	0.87932	D	0	-17.0297	14.7345	0.69406	0.0685:0.0:0.9315:0.0	.	692;692	Q8WXE9;G3V2T7	STON2_HUMAN;.	M	692;704;692	ENSP00000450857:T692M;ENSP00000267540:T692M	ENSP00000267540:T692M	T	-	2	0	STON2	80813333	1.000000	0.71417	0.972000	0.41901	0.371000	0.29859	8.029000	0.88807	2.879000	0.98667	0.650000	0.86243	ACG		TCGA-HV-A7OL-01A-11D-A33T-08	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	0	0	0	6	714	0	115	0	1.072785e-04	0	2	0	115	2		0	0	0	0	0	2	1	0.963681	6	705	0	115	2		0	0	0	0	115	2	-2.333984	0	1	121412	9	44	1	0	1	1	2.024830	0	0.370000	1.920000	0.368832	0.040000	0	0.090000	0.040000	0.052183	0.040000	0	2.000000e-02	0.070000
LGMN	5641	broad.mit.edu	37	14	93199026	93199026	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:93199026C>T	ENST00000393218.2	-	3	443	c.106G>A	c.(106-108)Ggt>Agt	p.G36S	LGMN_ENST00000557434.1_Missense_Mutation_p.G36S|LGMN_ENST00000555699.1_Missense_Mutation_p.G36S|LGMN_ENST00000334869.4_Missense_Mutation_p.G36S	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain			18		all_cancers(154;0.0706)			CCATTTGAACCTGCCACGATC	0.443000																								0							SO:0001583	missense			ENST00000393218.2	0	1	hg19	CCDS9904.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832172	0.71258	.	.	ENSG00000100600	ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855;ENST00000553802;ENST00000554397;ENST00000554919;ENST00000554080;ENST00000553371	T;T;T;T;T;T;T;T;T	0.72942	0.48;0.4;0.52;0.4;0.51;0.38;0.38;-0.34;-0.7	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.87059	0.6083	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.996	D	0.90096	0.4181	10	0.62326	D	0.03	-23.6576	16.0812	0.81005	0.0:1.0:0.0:0.0	.	36;36;36	Q99538;Q86TV2;Q86TV3	LGMN_HUMAN;.;.	S	36;36;36;36;36;36;13;36;36;36;36;36;36	ENSP00000451861:G36S;ENSP00000334052:G36S;ENSP00000452572:G36S;ENSP00000376911:G36S;ENSP00000450854:G36S;ENSP00000450677:G36S;ENSP00000451916:G36S;ENSP00000452268:G36S;ENSP00000451797:G36S	ENSP00000262004:G36S	G	-	1	0	LGMN	92268779	1.000000	0.71417	0.146000	0.22360	0.387000	0.30353	6.348000	0.73009	2.086000	0.62901	0.313000	0.20887	GGT		TCGA-HV-A7OL-01A-11D-A33T-08	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	0	0	0	8	989	0	159	1	1.661851e-01	2	78	0	159	2		0	0	0	0	0	2	1	0.988211	8	964	0	153	2		0	0	0	0	159	2	-2.286640	0	1	0	0		1	0	1	1	2.024830	0	0.370000	1.920000	0.368832	0.040000	1.000000e-02	0.080000	0.040000	0.048678	0.040000	0	2.000000e-02	0.070000
GABRA5	2558	broad.mit.edu	37	15	27128316	27128316	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:27128316G>A	ENST00000335625.5	+	5	1100	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R71H|GABRA5_ENST00000355395.5_Missense_Mutation_p.R71H|GABRA5_ENST00000557449.1_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5			49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CTTTCAGAGCGCATCACTCAG	0.612000																								0							SO:0001583	missense			ENST00000335625.5	0	1	hg19	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426900	0.83667	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.13;-1.26;-1.26;-1.26	5.39	4.47	0.54385	Neurotransmitter-gated ion-channel ligand-binding (3);	0.318671	0.37857	N	0.001907	T	0.81054	0.4743	L	0.55481	1.735	0.36586	D	0.873815	D	0.58268	0.982	P	0.54372	0.75	D	0.86010	0.1500	10	0.72032	D	0.01	.	13.2492	0.60041	0.0765:0.0:0.9235:0.0	.	71	P31644	GBRA5_HUMAN	H	71;71;39;71;71;71;71;39	ENSP00000335592:R71H;ENSP00000347557:R71H;ENSP00000450653:R39H;ENSP00000382953:R71H;ENSP00000451527:R71H;ENSP00000450806:R71H;ENSP00000450717:R71H;ENSP00000450529:R39H	ENSP00000335592:R71H	R	+	2	0	GABRA5	24679409	0.996000	0.38824	0.989000	0.46669	0.806000	0.45545	3.505000	0.53356	1.405000	0.46838	0.555000	0.69702	CGC		TCGA-HV-A7OL-01A-11D-A33T-08	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1	0	0	0	4	226	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	0.884829	4	220	0	42	2		0	0	0	0	42	2	-3.806431	1	1	121152	4	35	1	1	2	3	2.051060	0	0.370000	1.920000	0.374628	0.100000	3.000000e-02	1.000000	0.100000	0.141932	0.100000	0	6.000000e-02	0.170000
RYR3	6263	broad.mit.edu	37	15	33954961	33954961	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:33954961C>T	ENST00000389232.4	+	35	5300	c.5230C>T	c.(5230-5232)Cgg>Tgg	p.R1744W	RYR3_ENST00000415757.3_Missense_Mutation_p.R1744W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	p.R1744R(1)		311		all_lung(180;7.18e-09)			TGATGATGTTCGGCAGATCCT	0.552000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000389232.4	1	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	c	15.06	2.720660	0.48728	2.35E-4	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74421	-0.84;-0.84	5.41	3.54	0.40534	.	0.359807	0.23604	N	0.046403	T	0.74030	0.3663	L	0.38175	1.15	0.09310	N	0.999998	D;D	0.61697	0.988;0.99	P;P	0.57502	0.766;0.822	T	0.65030	-0.6267	10	0.87932	D	0	.	8.8635	0.35272	0.3151:0.6124:0.0:0.0724	.	1744;1744	Q15413-2;Q15413	.;RYR3_HUMAN	W	1744	ENSP00000373884:R1744W;ENSP00000399610:R1744W	ENSP00000354735:R1744W	R	+	1	2	RYR3	31742253	0.938000	0.31826	0.868000	0.34077	0.894000	0.52154	1.918000	0.40006	0.862000	0.35528	-0.119000	0.15052	CGG		TCGA-HV-A7OL-01A-11D-A33T-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	64	333	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1.000000	64	329	0	70	2		0	0	0	0	71	2	-3.154547	1	1	121180	3	37	1	1	2	3	2.051060	0	0.370000	1.920000	0.374628	0.870000	6.900000e-01	1.000000	1.000000	0.880153	0.870000	1	7.800000e-01	0.990000
RYR3	6263	broad.mit.edu	37	15	34130099	34130099	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:34130099T>C	ENST00000389232.4	+	89	11988	c.11918T>C	c.(11917-11919)aTg>aCg	p.M3973T	RYR3_ENST00000415757.3_Missense_Mutation_p.M3968T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			GAGAATGACATGTTTAATTAC	0.428000																								0							SO:0001583	missense			ENST00000389232.4	1	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109599	0.37242	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.81739	-1.53	5.4	5.4	0.78164	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	N	0.12831	0.26	0.53005	D	0.99996	P;B	0.52316	0.952;0.012	P;B	0.54499	0.754;0.014	T	0.76389	-0.2977	10	0.30854	T	0.27	.	15.5941	0.76566	0.0:0.0:0.0:1.0	.	3968;3973	Q15413-2;Q15413	.;RYR3_HUMAN	T	3973;3969	ENSP00000373884:M3973T	ENSP00000354735:M3969T	M	+	2	0	RYR3	31917391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.871000	0.69628	2.272000	0.75746	0.450000	0.29827	ATG		TCGA-HV-A7OL-01A-11D-A33T-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	142	573	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1.000000	142	570	0	98	2		0	0	0	0	99	2	-20.000000	1	1	0	0		1	1	2	3	2.051060	0	0.370000	1.920000	0.374628	0.990000	9.200000e-01	1.000000	1.000000	0.994102	0.990000	1	9.900000e-01	1.000000
MYO9A	4649	broad.mit.edu	37	15	72338352	72338352	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:72338352C>T	ENST00000356056.5	-	2	1025	c.553G>A	c.(553-555)Gtt>Att	p.V185I	MYO9A_ENST00000444904.1_Missense_Mutation_p.V185I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.V185I|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.V185I|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					GGGTTAATAACTATTAGAATA	0.328000																								0							SO:0001583	missense			ENST00000356056.5	1	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	19.42	3.825008	0.71143	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88201	-2.35;-2.35;-2.35	5.8	5.8	0.92144	Myosin head, motor domain (3);	.	.	.	.	D	0.89037	0.6601	L	0.52573	1.65	0.50171	D	0.999851	P;B;B	0.35139	0.486;0.38;0.268	B;B;B	0.39339	0.268;0.197;0.297	D	0.88674	0.3197	9	0.87932	D	0	.	20.1223	0.97967	0.0:1.0:0.0:0.0	.	185;185;185	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	I	185	ENSP00000348349:V185I;ENSP00000399162:V185I;ENSP00000398250:V185I	ENSP00000261864:V185I	V	-	1	0	MYO9A	70125406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.017000	0.70805	2.749000	0.94314	0.650000	0.86243	GTT		TCGA-HV-A7OL-01A-11D-A33T-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1	81	333	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1.000000	81	331	0	53	2		0	0	0	0	53	2	-20.000000	1	1	0	0		1	1	2	3	2.051849	0	0.370000	1.920000	0.374628	0.990000	8.600000e-01	1.000000	1.000000	0.984628	0.990000	1	9.600000e-01	1.000000
TBL3	10607	broad.mit.edu	37	16	2024605	2024605	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:2024605C>T	ENST00000568546.1	+	5	432	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3			18					CAGCGTTACCCGCCTGTGGAA	0.672000													Melanoma(118;616 1651 35077 38081 48633)											0							SO:0001583	missense			ENST00000568546.1	1	1	hg19	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674507	0.29693	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	3.0	0.34707	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.237542	0.39146	N	0.001458	T	0.53642	0.1809	M	0.86651	2.83	0.80722	D	1	P	0.42757	0.789	B	0.25614	0.062	T	0.60949	-0.7161	9	0.72032	D	0.01	-15.7473	10.7503	0.46205	0.0:0.8435:0.0:0.1565	.	102	Q12788	TBL3_HUMAN	C	102	.	ENSP00000331815:R102C	R	+	1	0	TBL3	1964606	0.998000	0.40836	0.556000	0.28293	0.678000	0.39670	3.772000	0.55325	0.505000	0.28104	-0.291000	0.09656	CGC		TCGA-HV-A7OL-01A-11D-A33T-08	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	1	0	1	52	228	0	33	1	9.859876e-01	9	23	0	33	2		0	0	0	0	0	2	1	1.000000	49	194	0	30	2		0	0	0	0	33	2	-3.470092	1	1	121382	6	35	1	0	0	0	2.019029	0	0.370000	1.920000	0.367660	0.990000	7.600000e-01	1.000000	1.000000	0.953371	0.990000	1	8.700000e-01	1.000000
DNAH3	55567	broad.mit.edu	37	16	20976524	20976524	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:20976524G>A	ENST00000261383.3	-	53	8681	c.8682C>T	c.(8680-8682)taC>taT	p.Y2894Y	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3			202					CCACGCGATCGTACACCTCCA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000261383.3	1	1	hg19	CCDS10594.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1	148	664	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1.000000	146	649	0	106	2		0	0	0	0	109	2	-20.000000	1	1	0	0		1	0	0	0	2.010160	0	0.370000	1.920000	0.365303	0.970000	8.300000e-01	1.000000	1.000000	0.959708	0.970000	1	9.000000e-01	1.000000
ATP2A1	487	broad.mit.edu	37	16	28912189	28912189	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:28912189G>C	ENST00000357084.3	+	15	2319	c.2052G>C	c.(2050-2052)aaG>aaC	p.K684N	ATP2A1_ENST00000395503.4_Missense_Mutation_p.K684N|ATP2A1_ENST00000536376.1_Missense_Mutation_p.K559N	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1			38					CCTCGCACAAGTCCAAGATTG	0.627000																								0							SO:0001583	missense			ENST00000357084.3	0	1	hg19	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296086	0.81025	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99769	-6.7;-6.7;-6.7	5.4	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	H	0.99783	4.775	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96211	0.9153	10	0.87932	D	0	.	13.0151	0.58753	0.0797:0.0:0.9203:0.0	.	559;684;684	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	N	684;684;721;559	ENSP00000349595:K684N;ENSP00000378879:K684N;ENSP00000443101:K559N	ENSP00000349595:K684N	K	+	3	2	ATP2A1	28819690	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.048000	0.57390	1.278000	0.44430	0.555000	0.69702	AAG		TCGA-HV-A7OL-01A-11D-A33T-08	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	0	0	0	4	386	0	72	0	0	0	1	0	72	2		0	0	0	0	0	2	0	0.887876	0	385	0	71	2		0	0	0	0	72	2	-4.617620	1	0	0	0		1	0	0	0	2.010160	0	0.370000	1.920000	0.365303	0.050000	1.000000e-02	0.130000	0.060000	0.068062	0.050000	0	3.000000e-02	0.100000
CREBBP	1387	broad.mit.edu	37	16	3801767	3801767	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:3801767C>T	ENST00000262367.5	-	20	4548	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1209K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein			295		Ovarian(90;0.0266)			GTCACATTCTCGCCCTGGATC	0.502000			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	1	1	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303906	0.60305	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83992	-1.79;-1.71	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.75539	0.3863	L	0.42487	1.325	0.53688	D	0.999978	P;P	0.44195	0.828;0.828	B;B	0.28991	0.097;0.097	T	0.78703	-0.2101	10	0.46703	T	0.11	-29.1663	19.3082	0.94173	0.0:1.0:0.0:0.0	.	1277;1247	Q4LE28;Q92793	.;CBP_HUMAN	K	1247;1277;1209	ENSP00000262367:E1247K;ENSP00000371502:E1209K	ENSP00000262367:E1247K	E	-	1	0	CREBBP	3741768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.577000	0.67444	2.539000	0.85634	0.655000	0.94253	GAG		TCGA-HV-A7OL-01A-11D-A33T-08	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	1	0	1	51	202	0	29	0	4.221814e-02	0	2	0	29	2		0	0	0	0	0	2	1	1.000000	50	201	0	29	2		0	0	0	0	29	2	-3.188316	1	1	0	0		1	0	0	0	2.019029	0	0.370000	1.920000	0.367660	0.990000	8.300000e-01	1.000000	1.000000	0.980776	0.990000	1	9.500000e-01	1.000000
WDR90	197335	broad.mit.edu	37	16	703653	703653	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:703653C>T	ENST00000293879.4	+	12	1362	c.1362C>T	c.(1360-1362)caC>caT	p.H454H	WDR90_ENST00000549091.1_Silent_p.H454H|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90			37		Hepatocellular(780;0.0218)			GCCCAATGCACGTTGTCTGCT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000293879.4	1	1	hg19	CCDS42092.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	1	0	1	69	254	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1.000000	69	252	0	58	2		0	0	0	0	58	2	-20.000000	1	1	120938	1	30	1	0	0	0	2.019029	0	0.370000	1.920000	0.367660	0.990000	9.100000e-01	1.000000	1.000000	0.994675	0.990000	1	9.900000e-01	1.000000
PRPF8	10594	broad.mit.edu	37	17	1576724	1576724	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:1576724C>T	ENST00000572621.1	-	22	3849	c.3584G>A	c.(3583-3585)cGc>cAc	p.R1195H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1195H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8			77					AGGCAGGATGCGGCACTCGAA	0.572000																								0							SO:0001583	missense			ENST00000572621.1	0	1	hg19	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	35	5.548538	0.96488	.	.	ENSG00000174231	ENST00000304992	D	0.84873	-1.91	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95669	0.8722	10	0.87932	D	0	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	1195	Q6P2Q9	PRP8_HUMAN	H	1195	ENSP00000304350:R1195H	ENSP00000304350:R1195H	R	-	2	0	PRPF8	1523474	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.814000	0.86154	2.879000	0.98667	0.650000	0.86243	CGC		TCGA-HV-A7OL-01A-11D-A33T-08	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	0	0	0	5	307	1	55	0	0	0	1	1	55	2		0	0	0	0	0	2	0	0.004233	5	304	1	55	18		0	0	0	1	55	2	-2.234427	0	1	0	0		1	0	1	1	1.640026	1	0.370000	1.920000	0.226994	0.070000	2.000000e-02	0.150000	0.070000	0.083256	0.070000	0	4.000000e-02	0.110000
GFAP	2670	broad.mit.edu	37	17	42990738	42990738	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:42990738C>T	ENST00000253408.5	-	4	744	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	GFAP_ENST00000435360.2_Missense_Mutation_p.A227T|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000586793.1_Missense_Mutation_p.A227T	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein			23		Prostate(33;0.0959)			TCTGGCTTGGCCACGTCAAGC	0.607000																								0							SO:0001583	missense			ENST00000253408.5	0	1	hg19	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	6.948	0.544765	0.13312	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.95853	-3.83;-3.83	4.93	2.92	0.33932	Filament (1);	0.204172	0.43110	D	0.000602	D	0.88644	0.6492	N	0.17674	0.51	0.30072	N	0.809996	B;B	0.13594	0.008;0.001	B;B	0.16289	0.015;0.007	T	0.82680	-0.0337	10	0.66056	D	0.02	.	4.7956	0.13270	0.4228:0.4185:0.0:0.1588	.	227;227	E9PAX3;P14136	.;GFAP_HUMAN	T	227;202;227	ENSP00000253408:A227T;ENSP00000403962:A227T	ENSP00000253408:A227T	A	-	1	0	GFAP	40346264	0.009000	0.17119	0.653000	0.29593	0.053000	0.15095	0.375000	0.20518	0.788000	0.33755	-0.181000	0.13052	GCC		TCGA-HV-A7OL-01A-11D-A33T-08	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	0	0	0	5	406	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	0.936695	5	403	0	59	2		0	0	0	0	60	2	-2.521184	1	1	0	0		1	0	2	2	2.028987	1	0.370000	1.920000	0.370000	0.060000	2.000000e-02	0.150000	0.060000	0.078184	0.060000	0	4.000000e-02	0.110000
RNF43	54894	broad.mit.edu	37	17	56448270	56448270	+	Splice_Site	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:56448270A>G	ENST00000584437.1	-	2	2331		c.e2+1		RNF43_ENST00000407977.2_Splice_Site|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000581868.1_Splice_Site|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Splice_Site|RNF43_ENST00000577625.1_Splice_Site			Q68DV7	RNF43_HUMAN	ring finger protein 43			60	Medulloblastoma(34;0.127)|all_neural(34;0.237)				GTGTGAGTCTACCTTGCTAGC	0.582000																								0							SO:0001630	splice_region_variant			ENST00000584437.1	1	1	hg19	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384458	0.82792	.	.	ENSG00000108375	ENST00000407977	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6985	0.69139	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF43	53803269	1.000000	0.71417	0.997000	0.53966	0.837000	0.47467	5.913000	0.69957	2.066000	0.61787	0.533000	0.62120	.		TCGA-HV-A7OL-01A-11D-A33T-08	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	1	116	247	0	54	1	9.635510e-01	14	0	0	54	2	1	1	180	307	1	355	7	1	1.000000	116	242	0	52	2		0	0	0	0	54	2	-10.801650	1	1	0	0		1	0	2	2	2.036083	1	0.370000	1.920000	0.370000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
TP53	7157	broad.mit.edu	37	17	7578538	7578538	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:7578538T>A	ENST00000269305.4	-	5	581	c.392A>T	c.(391-393)aAc>aTc	p.N131I	TP53_ENST00000445888.2_Missense_Mutation_p.N131I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.N131I|TP53_ENST00000420246.2_Missense_Mutation_p.N131I|TP53_ENST00000359597.4_Missense_Mutation_p.N131I|TP53_ENST00000413465.2_Missense_Mutation_p.N131I	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.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	AAACATCTTGTTGAGGGCAGG	0.557000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	47	Deletion - In frame(21)|Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)						SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405466	0.83230	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.998;0.992;0.974;0.999;1.0;1.0	D	0.97125	0.9814	10	0.87932	D	0	-30.8858	13.8301	0.63375	0.0:0.0:0.0:1.0	.	92;131;131;38;131;131;131	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	I	131;131;131;131;131;131;120;38;38;131	ENSP00000410739:N131I;ENSP00000352610:N131I;ENSP00000269305:N131I;ENSP00000398846:N131I;ENSP00000391127:N131I;ENSP00000391478:N131I;ENSP00000423862:N38I;ENSP00000424104:N131I	ENSP00000269305:N131I	N	-	2	0	TP53	7519263	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	7.993000	0.88291	2.206000	0.71126	0.533000	0.62120	AAC		TCGA-HV-A7OL-01A-11D-A33T-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	47	123	0	25	1	8.073882e-01	7	3	0	25	2	1	1	446	1549	1	2101	6	1	1.000000	47	122	0	25	2		0	0	0	0	25	2	-20.000000	1	1	0	0		1	0	1	1	1.652064	1	0.370000	1.920000	0.226994	0.950000	8.000000e-01	1.000000	0.990000	0.944132	0.950000	1	8.800000e-01	0.990000
DHRS7C	201140	broad.mit.edu	37	17	9684814	9684814	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:9684814C>T	ENST00000330255.5	-	2	264	c.252G>A	c.(250-252)gtG>gtA	p.V84V	DHRS7C_ENST00000571134.1_Silent_p.V84V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C			15					TGGGGTCAGCCACGCTGATCA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000330255.5	1	1	hg19	CCDS56020.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	1	0	1	47	168	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1.000000	47	167	0	34	2		0	0	0	0	34	2	-20.000000	1	1	0	0		1	0	1	1	1.652064	1	0.370000	1.920000	0.226994	0.890000	7.000000e-01	1.000000	0.950000	0.889379	0.890000	1	8.000000e-01	0.970000
ARHGAP28	79822	broad.mit.edu	37	18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:6859874C>T	ENST00000383472.4	+	5	808	c.704C>T	c.(703-705)gCg>gTg	p.A235V	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.A76V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28			37		Colorectal(10;0.168)			GGGAGTTTTGCGGTTCCCAGG	0.433000																								0							SO:0001583	missense			ENST00000383472.4	0	1	hg19		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	8.061	0.768218	0.15983	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08102	3.3;3.25;3.2;3.2;3.2;3.13	4.44	0.19	0.15125	.	1.318330	0.04466	N	0.375305	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.001;0.003;0.006;0.004	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.42015	-0.9476	10	0.25106	T	0.35	.	7.004	0.24826	0.0:0.5813:0.0:0.4187	.	235;67;76;183	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	235;183;76;71;76;76;67;58	ENSP00000382963:A235V;ENSP00000262227:A183V;ENSP00000392660:A76V;ENSP00000437262:A71V;ENSP00000313506:A76V;ENSP00000406907:A76V	ENSP00000262227:A183V	A	+	2	0	ARHGAP28	6849874	0.000000	0.05858	0.001000	0.08648	0.625000	0.37756	0.379000	0.20585	0.014000	0.14944	0.563000	0.77884	GCG		TCGA-HV-A7OL-01A-11D-A33T-08	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	0	0	0	6	450	1	86		0	0	0	1	86	2		0	0	0	0	0	2	0	0.010173	6	449	1	85	18		0	0	0	1	86	2	-1.522654	0	1	121412	24	48	1	0	1	1	1.645085	1	0.370000	1.920000	0.226994	0.050000	2.000000e-02	0.120000	0.060000	0.066822	0.050000	0	3.000000e-02	0.090000
ANKRD12	23253	broad.mit.edu	37	18	9255365	9255365	+	Silent	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:9255365T>C	ENST00000262126.4	+	9	2340	c.2100T>C	c.(2098-2100)ttT>ttC	p.F700F	ANKRD12_ENST00000400020.3_Silent_p.F677F|ANKRD12_ENST00000383440.2_Silent_p.F677F	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12			65					aagagaatttttttaaaagtg	0.279000																								0							SO:0001819	synonymous_variant			ENST00000262126.4	0	1	hg19	CCDS11843.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	0	0	0	4	208	0	34	0	0	0	1	0	34	2		0	0	0	0	0	2	1	0.886663	4	204	0	33	2		0	0	0	0	34	2	-7.556165	1	1	0	0		1	0	1	1	1.645085	1	0.370000	1.920000	0.226994	0.080000	2.000000e-02	0.200000	0.080000	0.101276	0.080000	0	5.000000e-02	0.140000
ILF3	3609	broad.mit.edu	37	19	10793838	10793838	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:10793838G>A	ENST00000590261.1	+	13	1574	c.1574G>A	c.(1573-1575)gGc>gAc	p.G525D	ILF3_ENST00000318511.3_Missense_Mutation_p.G525D|ILF3_ENST00000420083.1_Missense_Mutation_p.G525D|ILF3_ENST00000588657.1_Missense_Mutation_p.G529D|ILF3_ENST00000449870.1_Missense_Mutation_p.G529D|ILF3_ENST00000589998.1_Missense_Mutation_p.G525D|ILF3_ENST00000592763.1_Missense_Mutation_p.G529D|ILF3_ENST00000250241.8_Missense_Mutation_p.G525D|ILF3_ENST00000407004.3_Missense_Mutation_p.G529D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa			31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		ACAAAGCACGGCAAGAACCCA	0.557000																								0							SO:0001583	missense			ENST00000590261.1	0	1	hg19	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288199	0.95517	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.18174	2.28;2.23;2.26;2.31;2.26	5.83	5.83	0.93111	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.113792	0.64402	D	0.000011	T	0.39572	0.1083	L	0.49126	1.545	0.80722	D	1	D;D;D;D;B;D	0.89917	1.0;0.998;0.999;0.999;0.176;0.992	D;D;D;D;B;P	0.91635	0.999;0.943;0.941;0.968;0.191;0.906	T	0.04467	-1.0949	10	0.87932	D	0	.	18.8865	0.92379	0.0:0.0:1.0:0.0	.	529;529;525;529;525;525	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	D	525;529;525;525;529;525	ENSP00000404121:G529D;ENSP00000315205:G525D;ENSP00000405436:G525D;ENSP00000384660:G529D;ENSP00000250241:G525D	ENSP00000250241:G525D	G	+	2	0	ILF3	10654838	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.771000	0.98977	2.761000	0.94854	0.650000	0.86243	GGC		TCGA-HV-A7OL-01A-11D-A33T-08	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1	0	0	0	5	597	1	89	0	1.289190e-03	0	65	1	89	5		0	0	0	0	0	2	0	0.000614	5	592	1	88	22		0	0	0	1	89	2	-2.687305	1	1	0	0		1	0	0	0	1.986796	0	0.370000	1.920000	0.355696	0.040000	0	0.100000	0.040000	0.052293	0.040000	0	2.000000e-02	0.070000
UPF1	5976	broad.mit.edu	37	19	18960909	18960909	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:18960909G>A	ENST00000599848.1	+	4	696	c.487G>A	c.(487-489)Gca>Aca	p.A163T	UPF1_ENST00000262803.5_Missense_Mutation_p.A163T|UPF1_ENST00000600310.1_3'UTR			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	p.A163T(1)		40					CCTTGTGAGGGCAAAATGCAA	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000599848.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	29.5	5.014153	0.93404	.	.	ENSG00000005007	ENST00000262803	D	0.91237	-2.81	4.51	4.51	0.55191	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	M	0.86805	2.84	0.80722	D	1	P;P	0.41159	0.74;0.695	P;B	0.49301	0.606;0.415	D	0.95400	0.8489	10	0.87932	D	0	-16.0301	16.5553	0.84483	0.0:0.0:1.0:0.0	.	163;163	Q92900;Q92900-2	RENT1_HUMAN;.	T	163	ENSP00000262803:A163T	ENSP00000262803:A163T	A	+	1	0	UPF1	18821909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.374000	0.97172	2.221000	0.72209	0.591000	0.81541	GCA		TCGA-HV-A7OL-01A-11D-A33T-08	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	0	0	0	6	545	0	96	0	2.625662e-03	0	6	0	96	2		0	0	0	0	0	2	1	0.964745	6	543	0	96	2		0	0	0	0	96	2	-2.228895	0	1	0	0		1	0	0	0	1.986796	0	0.370000	1.920000	0.355696	0.050000	1.000000e-02	0.120000	0.060000	0.066717	0.050000	0	3.000000e-02	0.090000
PEPD	5184	broad.mit.edu	37	19	33991872	33991872	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:33991872G>A	ENST00000244137.7	-	4	398	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PEPD_ENST00000397032.4_Missense_Mutation_p.A122V|PEPD_ENST00000436370.3_Intron	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	p.A122V(1)		17	Esophageal squamous(110;0.137)				GTCGTCCACGGCATACTTCTC	0.557000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000244137.7	0	1	hg19	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068639	0.36470	.	.	ENSG00000124299	ENST00000244137;ENST00000397032	T;T	0.77098	-1.07;-1.07	5.39	5.39	0.77823	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.148969	0.64402	D	0.000010	T	0.74427	0.3715	L	0.58925	1.835	0.80722	D	1	B;B	0.17038	0.02;0.017	B;B	0.19666	0.026;0.009	T	0.69450	-0.5142	10	0.32370	T	0.25	-26.8327	14.6656	0.68904	0.0:0.0:1.0:0.0	.	122;122	A8MX47;P12955	.;PEPD_HUMAN	V	122	ENSP00000244137:A122V;ENSP00000380226:A122V	ENSP00000244137:A122V	A	-	2	0	PEPD	38683712	1.000000	0.71417	0.503000	0.27626	0.454000	0.32378	5.746000	0.68681	2.510000	0.84645	0.462000	0.41574	GCC		TCGA-HV-A7OL-01A-11D-A33T-08	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	0	0	0	6	682	0	101	0	4.522464e-02	0	32	0	101	2		0	0	0	0	0	2	1	0.964765	7	679	0	99	2		0	0	0	0	101	2	-2.172608	0	1	0	0		1	1	2	3	2.336832	1	0.370000	1.920000	0.453860	0.060000	1.000000e-02	1.000000	0.060000	0.187122	0.060000	0	3.000000e-02	0.120000
MAP4K1	11184	broad.mit.edu	37	19	39100239	39100239	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:39100239A>G	ENST00000591517.1	-	13	1031	c.1003T>C	c.(1003-1005)Tgt>Cgt	p.C335R	MAP4K1_ENST00000396857.2_Missense_Mutation_p.C335R|MAP4K1_ENST00000589130.1_Missense_Mutation_p.C331R|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Splice_Site_p.C335R|MAP4K1_ENST00000423454.2_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1			44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		TACTCACGACAGCAGTCTGCA	0.582000																								0							SO:0001583	missense			ENST00000591517.1	1	1	hg19	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	10.01	1.234740	0.22626	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.71341	-0.56	4.25	0.715	0.18186	Protein kinase-like domain (1);	0.941218	0.09011	N	0.861554	T	0.50769	0.1635	L	0.29908	0.895	0.29651	N	0.843925	B;B	0.21905	0.062;0.057	B;B	0.17979	0.02;0.014	T	0.40251	-0.9573	10	0.11794	T	0.64	.	3.8459	0.08934	0.4194:0.2013:0.0:0.3793	.	335;335	Q92918-2;Q92918	.;M4K1_HUMAN	R	335	ENSP00000380066:C335R	ENSP00000221409:C335R	C	-	1	0	MAP4K1	43792079	0.569000	0.26643	0.816000	0.32577	0.990000	0.78478	0.529000	0.23019	0.176000	0.19873	0.459000	0.35465	TGT		TCGA-HV-A7OL-01A-11D-A33T-08	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	1	0	1	43	99	0	18	0	9.926880e-01	0	21	0	18	2		0	0	0	0	0	2	1	1.000000	42	97	0	18	2		0	0	0	0	18	2	-20.000000	1	1	0	0		1	1	2	3	2.335928	1	0.370000	1.920000	0.462480	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	p.A94T(1)		16					CCACTGTATGCGGCCCCTGGG	0.488000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000221954.2	0	1	hg19	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		TCGA-HV-A7OL-01A-11D-A33T-08	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	0	0	0	8	1053	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	0.989154	8	1048	0	137	2		0	0	0	0	139	2	-1.550212	0	1	121412	4	41	1	1	2	3	2.386725	1	0.370000	1.920000	0.466689	0.040000	0	0.110000	0.060000	0.062851	0.040000	0	2.000000e-02	0.080000
TRPM4	54795	broad.mit.edu	37	19	49671336	49671336	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:49671336C>T	ENST00000252826.5	+	4	556	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	TRPM4_ENST00000427978.2_Missense_Mutation_p.R144W|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4			49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)			TGGGCTGGTGCGGGCTGCCCA	0.731000																								0							SO:0001583	missense			ENST00000252826.5	0	1	hg19	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880335	0.72294	2.27E-4	0.0	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.03301	3.98;3.98	4.33	1.96	0.26148	.	0.086004	0.46442	D	0.000284	T	0.12050	0.0293	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.952	T	0.01537	-1.1330	10	0.87932	D	0	-31.9032	10.4113	0.44294	0.5303:0.4697:0.0:0.0	.	144;144	Q8TD43-3;Q8TD43	.;TRPM4_HUMAN	W	144	ENSP00000252826:R144W;ENSP00000407492:R144W	ENSP00000252826:R144W	R	+	1	2	TRPM4	54363148	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.336000	0.43938	1.142000	0.42291	0.491000	0.48974	CGG		TCGA-HV-A7OL-01A-11D-A33T-08	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	0	0	0	5	476	0	70	0	3.346890e-02	0	22	0	70	2		0	0	0	0	0	2	1	0.936465	5	472	0	67	2		0	0	0	0	70	2	-3.189999	1	1	0	0		1	1	2	3	2.387095	1	0.370000	1.920000	0.468354	0.070000	1.000000e-02	0.150000	0.060000	0.079213	0.070000	0	4.000000e-02	0.110000
KLK7	5650	broad.mit.edu	37	19	51480876	51480876	+	Silent	SNP	G	G	A	rs17855561		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:51480876G>A	ENST00000391807.1	-	6	779	c.678C>T	c.(676-678)tgC>tgT	p.C226C	KLK7_ENST00000597707.1_Silent_p.C154C|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Silent_p.C113C|KLK7_ENST00000595820.1_Silent_p.C226C	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	p.C226C(1)		19		all_neural(266;0.026)			TGGGTTGGCCGCAAGGGAAAG	0.517000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000391807.1	0	1	hg19	CCDS12812.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	0	0	0	6	605	0	76	1	9.920532e-01	2	928	0	76	2		0	0	0	0	0	2	1	0.964393	7	600	0	75	2		0	0	0	0	76	2	-2.042599	0	1	121412	108	52	1	1	2	3	2.387095	1	0.370000	1.920000	0.468354	0.060000	1.000000e-02	0.130000	0.060000	0.072931	0.060000	0	3.000000e-02	0.100000
ZNF581	51545	broad.mit.edu	37	19	56156512	56156512	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:56156512C>T	ENST00000587252.1	+	2	848	c.575C>T	c.(574-576)aCg>aTg	p.T192M	ZNF581_ENST00000270451.5_Missense_Mutation_p.T192M|CCDC106_ENST00000586790.1_5'Flank|ZNF581_ENST00000588537.1_Missense_Mutation_p.T192M|CCDC106_ENST00000308964.3_5'Flank			Q9P0T4	ZN581_HUMAN	zinc finger protein 581			3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)		CAGAAACACACGCGGTGGAAG	0.632000																								0							SO:0001583	missense			ENST00000587252.1	0	1	hg19	CCDS12932.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800114	0.31869	.	.	ENSG00000171425	ENST00000270451	T	0.09538	2.97	3.5	0.0648	0.14354	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	N	0.00760	-1.21	0.24781	N	0.992819	D	0.67145	0.996	P	0.53649	0.731	T	0.36432	-0.9748	9	0.87932	D	0	.	6.9073	0.24315	0.0:0.4032:0.0:0.5968	.	192	Q9P0T4	ZN581_HUMAN	M	192	ENSP00000270451:T192M	ENSP00000270451:T192M	T	+	2	0	ZNF581	60848324	0.000000	0.05858	0.014000	0.15608	0.453000	0.32348	-0.054000	0.11826	-0.004000	0.14419	0.407000	0.27541	ACG		TCGA-HV-A7OL-01A-11D-A33T-08	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453430.1	0	0	0	5	447	0	54	0	4.887685e-01	0	131	0	54	2		0	0	0	0	0	2	1	0.934131	5	438	0	54	2		0	0	0	0	54	2	-4.772330	1	1	117088	2	33	1	1	2	3	2.365756	1	0.370000	1.920000	0.464172	0.070000	1.000000e-02	1.000000	0.070000	0.118474	0.070000	0	4.000000e-02	0.130000
TRIM28	10155	broad.mit.edu	37	19	59061796	59061796	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:59061796G>A	ENST00000253024.5	+	17	2673	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H	TRIM28_ENST00000341753.6_Missense_Mutation_p.R713H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28			19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)			TTCGAGACGCGCATGAACGAG	0.602000																								0							SO:0001583	missense			ENST00000253024.5	0	1	hg19	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729403	0.48833	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.43688	0.94;0.94	5.06	2.95	0.34219	Bromodomain (2);	0.154547	0.40469	N	0.001086	T	0.28532	0.0706	L	0.27053	0.805	0.34967	D	0.752756	B;B;B	0.31054	0.306;0.01;0.204	B;B;B	0.31337	0.128;0.025;0.086	T	0.36939	-0.9727	10	0.46703	T	0.11	-21.0615	9.4971	0.38995	0.1711:0.0:0.8289:0.0	.	713;795;795	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	H	795;713	ENSP00000253024:R795H;ENSP00000342232:R713H	ENSP00000253024:R795H	R	+	2	0	TRIM28	63753608	0.633000	0.27181	0.989000	0.46669	0.989000	0.77384	1.837000	0.39201	0.857000	0.35407	0.462000	0.41574	CGC		TCGA-HV-A7OL-01A-11D-A33T-08	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	0	0	0	5	616	0	64	0	9.965438e-01	1	1476	0	64	2		0	0	0	0	0	2	1	0.936701	5	612	0	64	2		0	0	0	0	64	2	-2.354596	0	1	121410	1	33	1	1	2	3	2.365756	1	0.370000	1.920000	0.464172	0.050000	0	1.000000	0.060000	0.096193	0.050000	0	2.000000e-02	0.090000
ADAM30	11085	broad.mit.edu	37	1	120438703	120438703	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:120438703C>T	ENST00000369400.1	-	1	415	c.257G>A	c.(256-258)cGa>cAa	p.R86Q		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30			38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)			GCGCAGATGTCGGGGCAACAG	0.527000																								0							SO:0001583	missense			ENST00000369400.1	0	1	hg19	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590440	0.66219	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.05996	3.36	4.56	1.5	0.22942	Peptidase M12B, propeptide (1);	0.000000	0.32655	U	0.005818	T	0.04227	0.0117	L	0.60957	1.885	0.09310	N	1	P	0.52842	0.956	P	0.53490	0.727	T	0.27262	-1.0079	10	0.56958	D	0.05	.	2.9046	0.05716	0.1851:0.5349:0.1794:0.1006	.	86	Q9UKF2	ADA30_HUMAN	Q	86	ENSP00000358407:R86Q	ENSP00000358407:R86Q	R	-	2	0	ADAM30	120240226	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-1.640000	0.02009	0.132000	0.18615	0.462000	0.41574	CGA		TCGA-HV-A7OL-01A-11D-A33T-08	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	0	0	0	5	372	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	0.935273	5	366	0	58	2		0	0	0	0	58	2	-2.607044	1	1	0	0		1	1	2	3	2.069750	0	0.370000	1.920000	0.376916	0.070000	2.000000e-02	1.000000	0.080000	0.129063	0.070000	0	4.000000e-02	0.130000
AADACL3	126767	broad.mit.edu	37	1	12779503	12779503	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:12779503C>G	ENST00000359318.5	+	2	229	c.24C>G	c.(22-24)atC>atG	p.I8M	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3			15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)			AGCTCAGAATCTGTTCTATGC	0.478000																								0							SO:0001583	missense			ENST00000359318.5	1	1	hg19	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112902	0.37242	.	.	ENSG00000188984	ENST00000359318	T	0.07114	3.22	4.44	4.44	0.53790	.	0.459980	0.21394	N	0.075257	T	0.25158	0.0611	M	0.77313	2.365	0.28056	N	0.933172	D	0.67145	0.996	D	0.63877	0.919	T	0.03121	-1.1070	10	0.72032	D	0.01	-22.8393	10.4714	0.44640	0.0:0.8025:0.1975:0.0	.	8	Q5VUY0	ADCL3_HUMAN	M	8	ENSP00000352268:I8M	ENSP00000352268:I8M	I	+	3	3	AADACL3	12702090	0.319000	0.24607	0.922000	0.36590	0.356000	0.29392	-0.363000	0.07593	2.307000	0.77673	0.491000	0.48974	ATC		TCGA-HV-A7OL-01A-11D-A33T-08	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	1	0	1	181	861	0	144		0	0	0	0	144	2		0	0	0	0	0	2	1	1.000000	181	856	0	143	2		0	0	0	0	144	2	-20.000000	1	1	0	0		1	1	2	3	2.062195	0	0.370000	1.920000	0.375774	0.940000	8.200000e-01	1.000000	1.000000	0.943539	0.940000	1	8.800000e-01	1.000000
KPRP	448834	broad.mit.edu	37	1	152732580	152732580	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:152732580C>T	ENST00000606109.1	+	1	544	c.516C>T	c.(514-516)tgC>tgT	p.C172C	KPRP_ENST00000368773.1_Silent_p.C172C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	p.C172C(1)		60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		CTGCAGTGTGCCAGCCTCAGG	0.522000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000606109.1	0	1	hg19	CCDS30862.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	0	0	0	5	592	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	0.936111	5	587	0	110	2		0	0	0	0	113	2	-2.022659	0	1	0	0		1	1	2	3	2.054135	0	0.370000	1.920000	0.374628	0.040000	0	1.000000	0.040000	0.081509	0.040000	0	2.000000e-02	0.080000
C1orf110	339512	broad.mit.edu	37	1	162824686	162824686	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:162824686G>A	ENST00000367910.1	-	4	898	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110			12					ACCCTGTGCCGGAGATAATGG	0.502000																								0							SO:0001583	missense			ENST00000367910.1	0	1	hg19	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474319	0.43942	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	3.5	0.40072	.	0.000000	0.47455	D	0.000237	T	0.16599	0.0399	L	0.36672	1.1	0.34538	D	0.709987	P	0.46395	0.877	B	0.40901	0.343	T	0.04693	-1.0933	8	0.49607	T	0.09	-7.6072	8.1269	0.31003	0.1093:0.0:0.8907:0.0	.	260	Q86UF4	CA110_HUMAN	W	260	.	ENSP00000356886:R260W	R	-	1	2	C1orf110	161091310	1.000000	0.71417	0.991000	0.47740	0.269000	0.26545	1.845000	0.39279	1.051000	0.40369	0.655000	0.94253	CGG		TCGA-HV-A7OL-01A-11D-A33T-08	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	0	0	0	4	354	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	0.888972	4	351	0	64	2		0	0	0	0	64	2	-2.885578	1	1	120816	6	41	1	1	2	3	2.060271	0	0.370000	1.920000	0.375774	0.060000	1.000000e-02	1.000000	0.060000	0.110471	0.060000	0	3.000000e-02	0.120000
MIA3	375056	broad.mit.edu	37	1	222802593	222802593	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:222802593C>T	ENST00000344922.5	+	4	2056	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.L677L|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	p.L677L(1)		80					AGATAAGGCTCTCTGAGGGAG	0.488000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000344922.5	1	1	hg19	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	2.388	-0.340457	0.05243	.	.	ENSG00000154305	ENST00000354906	T	0.19806	2.12	4.36	-6.82	0.01698	.	.	.	.	.	T	0.06690	0.0171	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34354	-0.9832	6	0.10111	T	0.7	.	3.8314	0.08876	0.0778:0.2549:0.3136:0.3537	.	.	.	.	F	260	ENSP00000355062:L260F	ENSP00000355062:L260F	L	+	1	0	MIA3	220869216	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-5.357000	0.00128	-2.045000	0.00910	-2.178000	0.00318	CTC		TCGA-HV-A7OL-01A-11D-A33T-08	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	1	0	1	90	438	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1.000000	90	435	0	86	2		0	0	0	0	86	2	-20.000000	1	1	0	0		1	1	2	3	2.055428	0	0.370000	1.920000	0.374628	0.920000	7.500000e-01	1.000000	1.000000	0.922388	0.920000	1	8.300000e-01	1.000000
OR11L1	391189	broad.mit.edu	37	1	248004586	248004586	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:248004586C>A	ENST00000355784.2	-	1	668	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	p.A205S(1)		57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)		CACAGCACGGCAATTGACAGG	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000355784.2	1	1	hg19	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399533	0.25291	.	.	ENSG00000197591	ENST00000355784	T	0.37058	1.22	4.27	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34268	U	0.004118	T	0.25494	0.0620	N	0.17312	0.475	0.09310	N	1	P	0.42993	0.797	P	0.47346	0.544	T	0.04495	-1.0947	10	0.46703	T	0.11	.	5.0642	0.14574	0.0:0.5142:0.2962:0.1896	.	205	Q8NGX0	O11L1_HUMAN	S	205	ENSP00000348033:A205S	ENSP00000348033:A205S	A	-	1	0	OR11L1	246071209	0.000000	0.05858	0.013000	0.15412	0.246000	0.25737	-0.791000	0.04599	1.145000	0.42336	0.543000	0.68304	GCC		TCGA-HV-A7OL-01A-11D-A33T-08	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	0	0	0	18	432	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	0.999981	19	425	0	79	2		0	0	0	0	80	2	-4.268643	1	1	0	0		1	1	2	3	2.045144	0	0.370000	1.920000	0.372322	0.210000	1.300000e-01	0.350000	0.220000	0.234777	0.210000	0	1.700000e-01	0.280000
CSF3R	1441	broad.mit.edu	37	1	36939177	36939177	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:36939177C>T	ENST00000373106.1	-	6	1079	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	CSF3R_ENST00000361632.4_Missense_Mutation_p.V178M|CSF3R_ENST00000440588.2_Missense_Mutation_p.V178M|CSF3R_ENST00000418048.2_Missense_Mutation_p.V178M|CSF3R_ENST00000373103.1_Missense_Mutation_p.V178M|CSF3R_ENST00000331941.5_Missense_Mutation_p.V178M|CSF3R_ENST00000338937.5_Missense_Mutation_p.V178M|CSF3R_ENST00000373104.1_Missense_Mutation_p.V178M|CSF3R_ENST00000487540.2_5'Flank	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)			38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)		Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCTTGGGCACGCAGTCCAGG	0.607000																								0							SO:0001583	missense			ENST00000373106.1	1	1	hg19	CCDS413.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.097	0.573316	0.13623	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.22	-0.00103	0.14035	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.150820	0.06140	N	0.672141	T	0.21881	0.0527	L	0.31664	0.95	0.24342	N	0.99496	D;D;P;P	0.54047	0.964;0.958;0.929;0.723	B;B;B;B	0.36418	0.224;0.174;0.084;0.069	T	0.25606	-1.0127	10	0.34782	T	0.22	-5.3635	7.0679	0.25161	0.0:0.3842:0.0:0.6158	.	178;178;178;178	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	M	178	ENSP00000362198:V178M;ENSP00000362196:V178M;ENSP00000362195:V178M;ENSP00000355406:V178M;ENSP00000332180:V178M;ENSP00000401588:V178M;ENSP00000345013:V178M;ENSP00000397568:V178M	ENSP00000332180:V178M	V	-	1	0	CSF3R	36711764	0.188000	0.23250	0.026000	0.17262	0.003000	0.03518	0.000000	0.12993	0.159000	0.19401	-0.192000	0.12808	GTG		TCGA-HV-A7OL-01A-11D-A33T-08	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	1	0	1	61	254	0	54	0	1.750327e-01	0	4	0	54	2		0	0	0	0	0	2	1	1.000000	61	251	0	53	2		0	0	0	0	54	2	-20.000000	1	1	121412	7	37	1	1	2	3	2.069750	0	0.370000	1.920000	0.376916	0.990000	8.300000e-01	1.000000	1.000000	0.978602	0.990000	1	9.400000e-01	1.000000
ZC3H12A	80149	broad.mit.edu	37	1	37947303	37947303	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:37947303A>G	ENST00000373087.6	+	4	801	c.685A>G	c.(685-687)Att>Gtt	p.I229V		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A			21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			CGACAGATTCATTGTGAAGCT	0.572000																								0							SO:0001583	missense			ENST00000373087.6	1	1	hg19	CCDS417.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753618	0.89753	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.56776	0.44	5.8	5.8	0.92144	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.66939	2.045	0.80722	D	1	P	0.51351	0.944	D	0.64042	0.921	T	0.71258	-0.4646	10	0.54805	T	0.06	-24.1349	16.1549	0.81657	1.0:0.0:0.0:0.0	.	229	Q5D1E8	ZC12A_HUMAN	V	229	ENSP00000362179:I229V	ENSP00000362174:I229V	I	+	1	0	ZC3H12A	37719890	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.281000	0.95811	2.209000	0.71365	0.533000	0.62120	ATT		TCGA-HV-A7OL-01A-11D-A33T-08	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	1	0	1	97	398	0	79	1	6.120596e-01	5	5	0	79	2		0	0	0	0	0	2	1	1.000000	97	395	0	79	2		0	0	0	0	79	2	-20.000000	1	1	0	0		1	1	2	3	2.069750	0	0.370000	1.920000	0.376916	0.990000	8.800000e-01	1.000000	1.000000	0.988538	0.990000	1	9.700000e-01	1.000000
ADA	100	broad.mit.edu	37	20	43257762	43257762	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:43257762G>A	ENST00000372874.4	-	3	278	c.144C>T	c.(142-144)aaC>aaT	p.N48N	ADA_ENST00000537820.1_Silent_p.N48N|ADA_ENST00000464097.1_5'Flank	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase			18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)	Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGCCAATGACGTTCAGCAGCC	0.592000									Adenosine Deaminase Deficiency															0							SO:0001819	synonymous_variant	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	ENST00000372874.4	0	1	hg19	CCDS13335.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	0	0	0	6	443	0	64	0	1.023690e-01	0	34	0	64	2		0	0	0	0	0	2	1	0.963727	5	439	0	64	2		0	0	0	0	64	2	-3.023610	1	1	121412	22	45	1	0	0	0	2.007960	0	0.370000	1.920000	0.365303	0.070000	2.000000e-02	0.150000	0.080000	0.082965	0.070000	0	4.000000e-02	0.110000
PABPC1L	80336	broad.mit.edu	37	20	43545506	43545506	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:43545506G>A	ENST00000217073.2	+	3	497	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PABPC1L_ENST00000255136.3_Missense_Mutation_p.R166H|PABPC1L_ENST00000217074.4_Missense_Mutation_p.R166H|PABPC1L_ENST00000537323.1_Missense_Mutation_p.R166H			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	p.R166H(1)		20					CTGAATGACCGCAAAGTGTGA	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000217073.2	0	1	hg19	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878785	0.72294	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.11	4.15	0.48705	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	M	0.70787	2.145	0.58432	D	0.999999	P	0.43431	0.807	B	0.28638	0.092	D	0.90597	0.4541	10	0.66056	D	0.02	.	13.9611	0.64180	0.0751:0.0:0.9249:0.0	.	166	Q4VXU2	PAP1L_HUMAN	H	166	ENSP00000217074:R166H;ENSP00000255136:R166H;ENSP00000445661:R166H;ENSP00000217073:R166H	ENSP00000217073:R166H	R	+	2	0	PABPC1L	42978920	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.896000	0.87350	2.375000	0.81037	0.563000	0.77884	CGC		TCGA-HV-A7OL-01A-11D-A33T-08	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2	0	0	0	7	450	0	70	0	0	0	1	0	70	2		0	0	0	0	0	2	1	0.979840	7	444	0	68	2		0	0	0	0	70	2	-2.123705	0	1	0	0		1	0	0	0	2.007960	0	0.370000	1.920000	0.365303	0.080000	3.000000e-02	0.160000	0.080000	0.093162	0.080000	0	5.000000e-02	0.120000
RASSF2	9770	broad.mit.edu	37	20	4771183	4771183	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:4771183G>A	ENST00000379400.3	-	7	646	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R151C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2			34					TTGCCACGGCGACGCACCCCA	0.592000													Melanoma(158;1891 3343 50738)											0							SO:0001583	missense			ENST00000379400.3	1	1	hg19	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097623	0.76870	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.16897	2.31;2.31	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.45381	-0.9265	10	0.87932	D	0	.	12.5495	0.56218	0.0:0.0:0.8336:0.1664	.	151	P50749	RASF2_HUMAN	C	151	ENSP00000368710:R151C;ENSP00000368684:R151C	ENSP00000368684:R151C	R	-	1	0	RASSF2	4719183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.709000	0.61867	2.706000	0.92434	0.563000	0.77884	CGC		TCGA-HV-A7OL-01A-11D-A33T-08	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	1	0	1	54	154	0	25	0	6.885451e-02	0	2	0	25	2		0	0	0	0	0	2	1	1.000000	54	152	0	25	2		0	0	0	0	25	2	-20.000000	1	1	121410	12	38	1	0	0	0	2.007960	0	0.370000	1.920000	0.365303	0.990000	9.900000e-01	1.000000	1.000000	0.999802	0.990000	1	9.900000e-01	1.000000
ZNF217	7764	broad.mit.edu	37	20	52198591	52198591	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:52198591G>A	ENST00000371471.2	-	2	1200	c.775C>T	c.(775-777)Ccg>Tcg	p.P259S	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.P259S			O75362	ZN217_HUMAN	zinc finger protein 217			50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		CTCGAGGACGGCATTCCTCCT	0.512000																								0							SO:0001583	missense			ENST00000371471.2	0	1	hg19	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	1.632	-0.518688	0.04171	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08634	3.07;3.07	5.46	-0.716	0.11212	.	0.952709	0.08770	N	0.896438	T	0.05686	0.0149	L	0.33485	1.01	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.43734	-0.9373	10	0.33141	T	0.24	-5.7251	2.3642	0.04315	0.1675:0.1085:0.1954:0.5286	.	259	O75362	ZN217_HUMAN	S	259	ENSP00000360526:P259S;ENSP00000304308:P259S	ENSP00000304308:P259S	P	-	1	0	ZNF217	51631998	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.254000	0.08781	0.235000	0.21160	0.591000	0.81541	CCG		TCGA-HV-A7OL-01A-11D-A33T-08	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	0	0	0	6	735	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	0.963714	6	726	0	95	2		0	0	0	0	95	2	-2.016677	0	1	121412	1	41	1	0	0	0	2.007960	0	0.370000	1.920000	0.365303	0.040000	0	0.090000	0.040000	0.050421	0.040000	0	2.000000e-02	0.070000
ADRM1	11047	broad.mit.edu	37	20	60883799	60883799	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:60883799G>T	ENST00000253003.2	+	10	1252	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	RP11-157P1.4_ENST00000414042.1_RNA|LAMA5_ENST00000492698.1_Intron	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1			5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		ACGAAGAGGAGGACATGAGCC	0.557000																								0							SO:0001583	missense			ENST00000253003.2	1	1	hg19	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311241	0.81358	.	.	ENSG00000130706	ENST00000253003	.	.	.	5.74	-2.65	0.06095	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	L	0.42581	1.335	0.80722	D	1	P	0.34699	0.464	P	0.53760	0.734	T	0.58847	-0.7564	9	0.31617	T	0.26	-32.0816	11.5512	0.50721	0.6719:0.0:0.3281:0.0	.	402	Q16186	ADRM1_HUMAN	D	402	.	ENSP00000253003:E402D	E	+	3	2	ADRM1	60317194	0.989000	0.36119	0.990000	0.47175	0.735000	0.41995	0.312000	0.19397	-0.272000	0.09259	0.561000	0.74099	GAG		TCGA-HV-A7OL-01A-11D-A33T-08	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1	1	0	1	32	168	0	28	1	1	296	637	0	28	2		0	0	0	0	0	2	1	1.000000	32	165	0	28	2		0	0	0	0	28	2	-3.357177	1	1	0	0		1	0	0	0	2.007960	0	0.370000	1.920000	0.365303	0.850000	6.100000e-01	1.000000	1.000000	0.854956	0.850000	1	7.200000e-01	1.000000
ADRM1	11047	broad.mit.edu	37	20	60883800	60883800	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:60883800G>T	ENST00000253003.2	+	10	1253	c.1207G>T	c.(1207-1209)Gac>Tac	p.D403Y	RP11-157P1.4_ENST00000414042.1_RNA|LAMA5_ENST00000492698.1_Intron	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1			5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		CGAAGAGGAGGACATGAGCCT	0.562000																								0							SO:0001583	missense			ENST00000253003.2	1	1	hg19	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579440	0.86645	.	.	ENSG00000130706	ENST00000253003	.	.	.	5.74	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.73598	2.24	0.80722	D	1	D	0.61697	0.99	P	0.60415	0.874	T	0.80518	-0.1347	9	0.72032	D	0.01	-31.7805	16.5253	0.84329	0.0:0.131:0.869:0.0	.	403	Q16186	ADRM1_HUMAN	Y	403	.	ENSP00000253003:D403Y	D	+	1	0	ADRM1	60317195	1.000000	0.71417	0.999000	0.59377	0.745000	0.42441	9.313000	0.96297	1.414000	0.47017	0.561000	0.74099	GAC		TCGA-HV-A7OL-01A-11D-A33T-08	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1	1	0	1	32	160	0	28	1	1	295	642	0	28	2		0	0	0	0	0	2	1	1.000000	32	157	0	28	2		0	0	0	0	28	2	-18.388050	1	1	0	0		1	0	0	0	2.007960	0	0.370000	1.920000	0.365303	0.890000	6.300000e-01	1.000000	1.000000	0.881670	0.890000	1	7.500000e-01	1.000000
C20orf195	79025	broad.mit.edu	37	20	62187669	62187669	+	Missense_Mutation	SNP	C	C	T	rs117659219	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:62187669C>T	ENST00000370098.3	+	2	745	c.653C>T	c.(652-654)gCg>gTg	p.A218V	C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195			7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		AAGGCGTCGGCGGCTCACCAG	0.622000																								0							SO:0001583	missense			ENST00000370098.3	1	1	hg19	CCDS13526.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.207	-0.381718	0.04966	0.0	6.98E-4	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	3.22	0.36961	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.731967	0.11933	N	0.515501	T	0.13030	0.0316	N	0.02539	-0.55	0.24278	N	0.995215	B	0.02656	0.0	B	0.01281	0.0	T	0.28267	-1.0049	9	0.02654	T	1	-20.5053	9.1521	0.36969	0.0:0.1496:0.0:0.8504	.	218	Q9BVV2	CT195_HUMAN	V	218	.	ENSP00000359115:A218V	A	+	2	0	C20orf195	61658113	1.000000	0.71417	0.996000	0.52242	0.671000	0.39405	2.401000	0.44513	0.393000	0.25203	-0.302000	0.09304	GCG		TCGA-HV-A7OL-01A-11D-A33T-08	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	1	0	1	187	915	0	200	1	3.399351e-01	4	3	0	200	2		0	0	0	0	0	2	1	1.000000	184	900	0	197	2		0	0	0	0	200	2	-5.567785	1	1	121380	22	50	1	0	0	0	2.007960	0	0.370000	1.920000	0.365303	0.900000	7.900000e-01	1.000000	1.000000	0.909969	0.900000	1	8.400000e-01	0.970000
UMODL1	89766	broad.mit.edu	37	21	43543258	43543258	+	Missense_Mutation	SNP	A	A	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr21:43543258A>C	ENST00000408910.2	+	17	3145	c.3145A>C	c.(3145-3147)Agc>Cgc	p.S1049R	UMODL1_ENST00000400427.1_Missense_Mutation_p.S1105R|UMODL1_ENST00000408989.2_Missense_Mutation_p.S1177R|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.2_Missense_Mutation_p.S977R	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1			47					CCTCATGCAGAGCGTAAGACC	0.622000													Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											0							SO:0001583	missense			ENST00000408910.2	1	1	hg19	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.328296	0.41197	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	3.13	3.13	0.36017	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.506608	0.16330	N	0.219167	D	0.84772	0.5546	L	0.52266	1.64	0.38979	D	0.958909	D;D	0.76494	0.999;0.999	D;D	0.73708	0.976;0.981	D	0.83927	0.0304	9	.	.	.	-11.4154	10.9262	0.47191	1.0:0.0:0.0:0.0	.	1177;1049	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	R	1105;977;1177;1049	ENSP00000383279:S1105R;ENSP00000383276:S977R;ENSP00000386126:S1177R;ENSP00000386147:S1049R	.	S	+	1	0	UMODL1	42416327	1.000000	0.71417	0.959000	0.39883	0.192000	0.23643	4.772000	0.62324	1.674000	0.50907	0.260000	0.18958	AGC		TCGA-HV-A7OL-01A-11D-A33T-08	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2	1	0	1	30	166	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1.000000	30	165	0	32	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	1	2	3	2.037550	0	0.370000	1.920000	0.371163	0.820000	5.800000e-01	1.000000	1.000000	0.830640	0.820000	0	6.900000e-01	0.980000
ODC1	4953	broad.mit.edu	37	2	10583672	10583672	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:10583672C>T	ENST00000234111.4	-	7	1120	c.610G>A	c.(610-612)Gat>Aat	p.D204N	ODC1_ENST00000446285.1_5'Flank|ODC1_ENST00000405333.1_Missense_Mutation_p.D204N	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1			19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Spermine(DB00127)	GTCTCAGGATCGGTACAGCCG	0.478000																								0							SO:0001583	missense			ENST00000234111.4	1	1	hg19	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174909	0.78564	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.52754	0.65;0.65	5.79	4.88	0.63580	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	L	0.61218	1.895	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.46512	-0.9186	10	0.51188	T	0.08	.	16.9563	0.86260	0.0:0.873:0.127:0.0	.	204	P11926	DCOR_HUMAN	N	204;204;75	ENSP00000234111:D204N;ENSP00000385333:D204N	ENSP00000234111:D204N	D	-	1	0	ODC1	10501123	1.000000	0.71417	0.912000	0.35992	0.934000	0.57294	4.734000	0.62043	2.746000	0.94184	0.655000	0.94253	GAT		TCGA-HV-A7OL-01A-11D-A33T-08	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2	0	0	1	83	469	1	94	1	9.934840e-01	13	67	1	94	5		0	0	0	0	0	2	1	1.000000	82	465	1	94	19		0	0	0	1	94	2	-3.222531	1	1	121412	9	43	1	1	2	3	2.038702	0	0.370000	1.920000	0.371163	0.810000	6.500000e-01	0.990000	0.810000	0.818004	0.810000	0	7.300000e-01	0.900000
FOXD4L1	200350	broad.mit.edu	37	2	114257073	114257073	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:114257073C>T	ENST00000306507.5	+	1	413	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1			26					GCGGCCCGAGCGACCCCTCAG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000306507.5	0	1	hg19	CCDS2117.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	0	0	0	6	433	1	77		0	0	0	1	77	2		0	0	0	0	0	2	0	0.017749	6	346	1	92	14		0	0	0	1	77	2	-1.988555	0	1	117044	20	31	1	1	2	3	2.038702	0	0.370000	1.920000	0.371163	0.070000	2.000000e-02	0.160000	0.080000	0.085640	0.070000	0	4.000000e-02	0.120000
GORASP2	26003	broad.mit.edu	37	2	171818252	171818252	+	Silent	SNP	A	A	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:171818252A>C	ENST00000234160.4	+	8	1718	c.903A>C	c.(901-903)acA>acC	p.T301T	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Silent_p.T313T	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa			14					CAGCTACTACATTACCAGGTA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000234160.4	1	1	hg19	CCDS33325.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2	1	0	1	107	470	0	96	1	9.999999e-01	34	65	0	96	2		0	0	0	0	0	2	1	1.000000	104	467	0	95	2		0	0	0	0	96	2	-20.000000	1	1	0	0		1	1	2	3	2.038702	0	0.370000	1.920000	0.371163	0.990000	8.300000e-01	1.000000	1.000000	0.968573	0.990000	1	9.100000e-01	1.000000
SPHKAP	80309	broad.mit.edu	37	2	228855826	228855826	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:228855826G>T	ENST00000392056.3	-	11	4895	c.4849C>A	c.(4849-4851)Cca>Aca	p.P1617T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1588T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing			185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)			GGACACTCTGGCTCCAGGTCA	0.557000																								0							SO:0001583	missense			ENST00000392056.3	1	1	hg19	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053706	0.75960	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.05996	3.36;3.36	6.17	6.17	0.99709	A-kinase anchor 110kDa, C-terminal (1);	0.167578	0.52532	D	0.000066	T	0.24353	0.0590	M	0.78049	2.395	0.48341	D	0.999631	D;D	0.76494	0.999;0.999	D;D	0.74674	0.961;0.984	T	0.00043	-1.2223	10	0.44086	T	0.13	.	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	1617;1588	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	1617;1588	ENSP00000375909:P1617T;ENSP00000339886:P1588T	ENSP00000339886:P1588T	P	-	1	0	SPHKAP	228564070	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.992000	0.63889	2.941000	0.99782	0.655000	0.94253	CCA		TCGA-HV-A7OL-01A-11D-A33T-08	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1	67	263	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1.000000	66	261	0	33	2		0	0	0	0	33	2	-20.000000	1	1	121406	1	31	1	0	0	0	2.022532	0	0.370000	1.920000	0.367660	0.990000	8.600000e-01	1.000000	1.000000	0.987004	0.990000	1	9.700000e-01	1.000000
ATL2	64225	broad.mit.edu	37	2	38525479	38525479	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:38525479G>A	ENST00000378954.4	-	12	1440	c.1439C>T	c.(1438-1440)gCg>gTg	p.A480V	ATL2_ENST00000402054.1_Missense_Mutation_p.A309V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V|ATL2_ENST00000406122.1_Missense_Mutation_p.A309V|ATL2_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000419554.2_Missense_Mutation_p.A480V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2			22					AAACATGACCGCAAACAGTGT	0.408000																								0							SO:0001583	missense			ENST00000378954.4	0	1	hg19	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796474	0.50208	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	D;D;D;D;D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	L	0.31065	0.9	0.80722	D	1	P;B;P;B;B	0.49635	0.926;0.397;0.531;0.183;0.216	B;B;B;B;B	0.31495	0.115;0.062;0.131;0.08;0.05	D	0.91673	0.5352	10	0.18710	T	0.47	-14.909	19.0794	0.93175	0.0:0.0:1.0:0.0	.	309;462;462;480;480	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	V	480;309;309;309;462;480;462;309	ENSP00000368237:A480V;ENSP00000385446:A309V;ENSP00000384062:A309V;ENSP00000446192:A309V;ENSP00000333393:A462V;ENSP00000415336:A480V;ENSP00000390743:A462V;ENSP00000438938:A309V	ENSP00000333393:A462V	A	-	2	0	ATL2	38378983	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.583000	0.74053	2.746000	0.94184	0.591000	0.81541	GCG		TCGA-HV-A7OL-01A-11D-A33T-08	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	0	0	0	6	414	0	79	0	4.238820e-02	0	19	0	79	2		0	0	0	0	0	2	1	0.962820	6	405	0	78	2		0	0	0	0	79	2	-2.398702	0	1	121412	1	37	1	1	2	3	2.038702	0	0.370000	1.920000	0.371163	0.080000	2.000000e-02	0.170000	0.080000	0.089478	0.080000	0	5.000000e-02	0.120000
PSME4	23198	broad.mit.edu	37	2	54120082	54120082	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:54120082A>T	ENST00000404125.1	-	36	4109	c.4054T>A	c.(4054-4056)Ttt>Att	p.F1352I	PSME4_ENST00000421748.2_Missense_Mutation_p.F496I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	p.F1238V(1)		60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		GCATCATCAAAATTCCTGAAT	0.363000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000404125.1	1	1	hg19	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.417319	0.83449	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.64438	-0.1;-0.1	5.51	5.51	0.81932	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.72118	2.19	0.80722	D	1	D;D;P	0.59357	0.985;0.959;0.954	P;P;P	0.59357	0.856;0.647;0.721	T	0.70230	-0.4929	10	0.15952	T	0.53	.	15.6258	0.76855	1.0:0.0:0.0:0.0	.	727;496;1352	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	I	496;1352	ENSP00000410830:F496I;ENSP00000384211:F1352I	ENSP00000384211:F1352I	F	-	1	0	PSME4	53973586	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.105000	0.64084	0.454000	0.30748	TTT		TCGA-HV-A7OL-01A-11D-A33T-08	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1	54	237	0	44	1	2.373285e-01	3	2	0	44	2		0	0	0	0	0	2	1	1.000000	54	235	0	44	2		0	0	0	0	44	2	-20.000000	1	0	0	0		1	1	2	3	2.038702	0	0.370000	1.920000	0.371163	0.990000	7.700000e-01	1.000000	1.000000	0.956310	0.990000	1	8.800000e-01	1.000000
TEKT4	150483	broad.mit.edu	37	2	95542419	95542419	+	Missense_Mutation	SNP	G	G	A	rs75603622		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:95542419G>A	ENST00000295201.4	+	6	1350	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4			28					GAAGGACATTGCCGCCATGAC	0.587000																								0							SO:0001583	missense			ENST00000295201.4	0	0	hg19	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	7.574	0.667319	0.14710	.	.	ENSG00000163060	ENST00000295201	T	0.02812	4.15	2.43	-2.21	0.06973	.	0.433987	0.24289	N	0.039834	T	0.04724	0.0128	M	0.89414	3.03	0.25870	N	0.983722	B	0.10296	0.003	B	0.15484	0.013	T	0.43360	-0.9396	10	0.17832	T	0.49	-6.8803	6.926	0.24416	0.1368:0.0:0.6998:0.1633	rs3209453	405	Q8WW24	TEKT4_HUMAN	T	405	ENSP00000295201:A405T	ENSP00000295201:A405T	A	+	1	0	TEKT4	94906146	0.004000	0.15560	0.111000	0.21465	0.365000	0.29674	0.130000	0.15850	-0.321000	0.08627	-0.923000	0.02734	GCC		TCGA-HV-A7OL-01A-11D-A33T-08	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	1	0	1	33	184	0	26	1	9.057854e-01	25	0	0	26	2		0	0	0	0	0	2	1	1.000000	10	181	0	25	2		0	0	0	0	26	2	-0.553865	0	0	121408	494	45	1	1	2	3	2.038702	0	0.370000	1.920000	0.371163	0.820000	5.800000e-01	1.000000	1.000000	0.826537	0.820000	0	6.900000e-01	0.960000
GPAT2	150763	broad.mit.edu	37	2	96690307	96690307	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:96690307G>A	ENST00000434632.1	-	16	1996	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	GPAT2_ENST00000453542.1_Missense_Mutation_p.R442W|GPAT2_ENST00000359548.4_Missense_Mutation_p.R513W|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_Missense_Mutation_p.R513W			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial			16					ACGTGCGCCCGCAGCAGGCTC	0.642000																								0							SO:0001583	missense			ENST00000434632.1	0	1	hg19	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	g	14.62	2.588560	0.46110	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.77877	-1.12;-1.12;-0.13;-1.13	4.63	3.66	0.41972	.	0.754991	0.12365	N	0.475318	T	0.81730	0.4884	L	0.43152	1.355	0.32553	N	0.532168	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.998;1.0	D;P;P;P;D	0.66084	0.913;0.809;0.847;0.721;0.941	T	0.81138	-0.1069	10	0.66056	D	0.02	-5.7184	9.2268	0.37412	0.0:0.0:0.6973:0.3027	.	442;513;519;513;442	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	W	513;513;442;513	ENSP00000352547:R513W;ENSP00000389395:R513W;ENSP00000393770:R442W;ENSP00000366341:R513W	ENSP00000352547:R513W	R	-	1	2	GPAT2	96054034	0.001000	0.12720	0.992000	0.48379	0.233000	0.25261	0.401000	0.20948	0.964000	0.38108	0.637000	0.83480	CGG		TCGA-HV-A7OL-01A-11D-A33T-08	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	0	0	0	5	441	0	73	0	2.014839e-03	0	5	0	73	2		0	0	0	0	0	2	1	0.935625	5	435	0	72	2		0	0	0	0	73	2	-2.913566	1	1	121098	7	40	1	1	2	3	2.038702	0	0.370000	1.920000	0.371163	0.060000	1.000000e-02	0.140000	0.060000	0.072248	0.060000	0	3.000000e-02	0.100000
CEP97	79598	broad.mit.edu	37	3	101446386	101446386	+	Splice_Site	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:101446386G>A	ENST00000341893.3	+	3	1097		c.e3+1		CEP97_ENST00000327230.4_Splice_Site|CEP97_ENST00000494050.1_Splice_Site			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa			29					TAATCTTAAGGTGAATGGTTT	0.343000																								0							SO:0001630	splice_region_variant			ENST00000341893.3	1	1	hg19	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419147	0.83559	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7156	0.96119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP97	102929076	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.703000	0.98714	2.658000	0.90341	0.655000	0.94253	.		TCGA-HV-A7OL-01A-11D-A33T-08	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	1	0	0	75	372	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1.000000	74	369	0	48	2		0	0	0	0	48	2	-20.000000	1	1	121412	1	31	1	1	2	3	2.039940	0	0.370000	1.920000	0.372322	0.900000	7.300000e-01	1.000000	1.000000	0.905378	0.900000	1	8.100000e-01	1.000000
CPNE4	131034	broad.mit.edu	37	3	131442441	131442441	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:131442441C>T	ENST00000512055.1	-	7	2335	c.209G>A	c.(208-210)tGc>tAc	p.C70Y	CPNE4_ENST00000512332.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000429747.1_Missense_Mutation_p.C70Y|CPNE4_ENST00000502818.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000511604.1_Missense_Mutation_p.C70Y			Q96A23	CPNE4_HUMAN	copine IV			39					TGGGTTTATGCAGGTGCGAAT	0.418000																								0							SO:0001583	missense			ENST00000512055.1	0	1	hg19	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404858	0.62288	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881;ENST00000514999;ENST00000505957	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.38	5.38	0.77491	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.120680	0.85682	D	0.000000	T	0.58524	0.2128	M	0.77616	2.38	0.49299	D	0.999775	B;B	0.30482	0.147;0.281	B;B	0.42495	0.221;0.389	T	0.61973	-0.6952	10	0.72032	D	0.01	-7.8453	19.1819	0.93627	0.0:1.0:0.0:0.0	.	88;70	Q96A23-2;Q96A23	.;CPNE4_HUMAN	Y	70;70;88;70;88;70;70;70	ENSP00000421705:C70Y;ENSP00000411904:C70Y;ENSP00000424853:C88Y;ENSP00000423811:C70Y;ENSP00000421646:C88Y;ENSP00000425506:C70Y;ENSP00000427561:C70Y;ENSP00000421394:C70Y	ENSP00000411904:C70Y	C	-	2	0	CPNE4	132925131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.896000	0.56266	2.542000	0.85734	0.555000	0.69702	TGC		TCGA-HV-A7OL-01A-11D-A33T-08	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	0	0	0	6	724	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	0.963854	6	716	0	106	2		0	0	0	0	107	2	-2.003323	0	1	0	0		1	1	2	3	2.039940	0	0.370000	1.920000	0.372322	0.040000	0	0.100000	0.040000	0.061040	0.040000	0	2.000000e-02	0.070000
ST6GAL1	6480	broad.mit.edu	37	3	186769122	186769122	+	Silent	SNP	G	G	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:186769122G>C	ENST00000169298.3	+	5	1367	c.693G>C	c.(691-693)ctG>ctC	p.L231L	ST6GAL1_ENST00000457772.2_5'UTR|ST6GAL1_ENST00000448044.1_Silent_p.L231L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1			7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)		CCATTCGCCTGATGAACTCTC	0.453000																								0							SO:0001819	synonymous_variant			ENST00000169298.3	0	1	hg19	CCDS3285.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	0	0	0	26	270	0	46	0	2.381361e-02	0	3	0	46	2		0	0	0	0	0	2	1	1.000000	25	266	0	45	2		0	0	0	0	46	2	-9.658928	1	1	0	0		1	1	2	3	2.039940	0	0.370000	1.920000	0.372322	0.470000	3.200000e-01	0.700000	0.480000	0.493781	0.470000	0	3.900000e-01	0.580000
MUC4	4585	broad.mit.edu	37	3	195517556	195517556	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:195517556T>A	ENST00000463781.3	-	2	1354	c.895A>T	c.(895-897)Aca>Tca	p.T299S	MUC4_ENST00000475231.1_Missense_Mutation_p.T299S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated			51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)		GGATCAAATGTTACTAAGGCT	0.483000																								0							SO:0001583	missense			ENST00000463781.3	0	1	hg19	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	6.636	0.485876	0.12641	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.54071	0.59;0.62	3.57	-2.63	0.06133	.	.	.	.	.	T	0.33030	0.0849	L	0.47190	1.495	0.09310	N	1	B;B	0.32781	0.259;0.384	B;B	0.25759	0.063;0.048	T	0.20140	-1.0284	9	0.15066	T	0.55	.	4.0135	0.09632	0.4013:0.1048:0.0:0.4939	.	299;304	E7ESK3;Q99102	.;MUC4_HUMAN	S	299;299;273	ENSP00000417498:T299S;ENSP00000420243:T299S	ENSP00000376209:T273S	T	-	1	0	MUC4	197001951	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.781000	0.04648	-0.425000	0.07371	-0.416000	0.06073	ACA		TCGA-HV-A7OL-01A-11D-A33T-08	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	0	0	0	7	460	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	0.980318	7	457	0	93	2		0	0	0	0	93	2	-4.847725	1	1	0	0		1	0	1	1	2.023077	0	0.370000	1.920000	0.367660	0.080000	3.000000e-02	0.160000	0.080000	0.091528	0.080000	0	5.000000e-02	0.120000
CDCP1	64866	broad.mit.edu	37	3	45153640	45153640	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:45153640T>C	ENST00000296129.1	-	3	724	c.590A>G	c.(589-591)cAc>cGc	p.H197R	CDCP1_ENST00000425231.2_Missense_Mutation_p.H197R|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1			29					CCATGGGAGGTGTAAGGCCAT	0.522000																								0							SO:0001583	missense			ENST00000296129.1	0	1	hg19	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.419653	0.42918	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.41065	1.92;1.01	5.42	4.25	0.50352	.	0.712205	0.14693	N	0.304050	T	0.41050	0.1142	L	0.54323	1.7	0.27687	N	0.946243	B;B	0.30439	0.279;0.279	B;B	0.31101	0.124;0.124	T	0.34950	-0.9808	10	0.59425	D	0.04	.	12.6997	0.57024	0.0:0.0:0.1375:0.8625	.	197;197	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	R	197	ENSP00000296129:H197R;ENSP00000399342:H197R	ENSP00000296129:H197R	H	-	2	0	CDCP1	45128644	0.981000	0.34729	0.994000	0.49952	0.773000	0.43773	2.658000	0.46733	0.872000	0.35775	0.460000	0.39030	CAC		TCGA-HV-A7OL-01A-11D-A33T-08	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	0	0	0	8	493	0	82	0	1.765649e-01	0	42	0	82	2		0	0	0	0	0	2	1	0.989036	8	488	0	82	2		0	0	0	0	82	2	-3.025161	1	1	0	0		1	1	2	3	2.039940	0	0.370000	1.920000	0.372322	0.080000	3.000000e-02	0.180000	0.080000	0.105593	0.080000	0	5.000000e-02	0.130000
TLR9	54106	broad.mit.edu	37	3	52257640	52257640	+	Missense_Mutation	SNP	C	C	T	rs147300053		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:52257640C>T	ENST00000360658.2	-	2	1325	c.692G>A	c.(691-693)cGc>cAc	p.R231H	TLR9_ENST00000494383.1_Silent_p.P384P|TLR9_ENST00000597542.1_Missense_Mutation_p.R255H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9			30				Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TTTGACGATGCGGTTGTAGGA	0.617000																								0							SO:0001583	missense			ENST00000360658.2	0	1	hg19	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	8.690	0.907217	0.17833	0.0	3.49E-4	ENSG00000239732	ENST00000360658	T	0.58210	0.35	5.38	-8.75	0.00834	.	0.955010	0.08543	N	0.930202	T	0.34337	0.0894	L	0.35288	1.05	0.09310	N	0.999997	B;B	0.11235	0.002;0.004	B;B	0.06405	0.002;0.002	T	0.22347	-1.0219	10	0.25106	T	0.35	.	12.031	0.53397	0.1005:0.6148:0.0:0.2847	.	328;231	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	231	ENSP00000353874:R231H	ENSP00000353874:R231H	R	-	2	0	TLR9	52232680	0.003000	0.15002	0.245000	0.24217	0.163000	0.22366	-0.725000	0.04942	-1.469000	0.01890	-0.982000	0.02568	CGC		TCGA-HV-A7OL-01A-11D-A33T-08	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1	0	0	0	4	187	0	36	0	4.580858e-03	0	4	0	36	2		0	0	0	0	0	2	1	0.888765	4	185	0	35	2		0	0	0	0	36	2	-3.305162	1	1	121284	3	36	1	1	2	3	2.039940	0	0.370000	1.920000	0.372322	0.120000	3.000000e-02	0.300000	0.120000	0.147746	0.120000	0	7.000000e-02	0.200000
STAB1	23166	broad.mit.edu	37	3	52551596	52551596	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:52551596G>A	ENST00000321725.6	+	44	4670	c.4594G>A	c.(4594-4596)Ggg>Agg	p.G1532R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					GGGTTACAGCGGGGATGGCAT	0.622000																								0							SO:0001583	missense			ENST00000321725.6	1	1	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965659	0.74131	.	.	ENSG00000010327	ENST00000321725	D	0.93953	-3.32	4.81	4.81	0.61882	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.485095	0.20593	N	0.089304	D	0.96445	0.8840	M	0.81942	2.565	0.46336	D	0.998995	D	0.89917	1.0	D	0.72982	0.979	D	0.96640	0.9473	10	0.62326	D	0.03	.	14.9699	0.71226	0.0:0.0:1.0:0.0	.	1532	Q9NY15	STAB1_HUMAN	R	1532	ENSP00000312946:G1532R	ENSP00000312946:G1532R	G	+	1	0	STAB1	52526636	1.000000	0.71417	0.984000	0.44739	0.352000	0.29268	3.707000	0.54838	2.380000	0.81148	0.655000	0.94253	GGG		TCGA-HV-A7OL-01A-11D-A33T-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1	59	271	0	53	0	2.246025e-01	0	5	0	53	2		0	0	0	0	0	2	1	1.000000	59	269	0	53	2		0	0	0	0	53	2	-3.052333	1	1	0	0		1	1	2	3	2.039940	0	0.370000	1.920000	0.372322	0.960000	7.500000e-01	1.000000	1.000000	0.941527	0.960000	1	8.500000e-01	1.000000
VGLL3	389136	broad.mit.edu	37	3	87017871	87017871	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:87017871G>A	ENST00000398399.2	-	3	1169	c.806C>T	c.(805-807)gCg>gTg	p.A269V	VGLL3_ENST00000383698.3_Missense_Mutation_p.A269V	NM_016206.2	NP_057290.2			vestigial-like family member 3			19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)			AATCCTGGCCGCATGCACTGA	0.572000																								0							SO:0001583	missense			ENST00000398399.2	0	1	hg19	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945134	0.73672	0.0	1.18E-4	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.52754	0.82;0.65	5.71	5.71	0.89125	.	0.486738	0.20579	N	0.089580	T	0.44953	0.1318	L	0.54323	1.7	0.47949	D	0.99955	P	0.45428	0.858	B	0.35655	0.207	T	0.48917	-0.8992	10	0.45353	T	0.12	-0.046	19.446	0.94847	0.0:0.0:1.0:0.0	.	269	A8MV65	VGLL3_HUMAN	V	269	ENSP00000381436:A269V;ENSP00000373199:A269V	ENSP00000373199:A269V	A	-	2	0	VGLL3	87100561	0.956000	0.32656	0.475000	0.27278	0.820000	0.46376	6.223000	0.72257	2.709000	0.92574	0.561000	0.74099	GCG		TCGA-HV-A7OL-01A-11D-A33T-08	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	0	0	0	4	216	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	0.887917	4	213	0	40	2		0	0	0	0	40	2	-2.918883	1	1	121192	13	41	1	1	2	3	2.039940	0	0.370000	1.920000	0.372322	0.100000	3.000000e-02	0.260000	0.100000	0.129861	0.100000	0	6.000000e-02	0.180000
ENAM	10117	broad.mit.edu	37	4	71508260	71508260	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:71508260C>A	ENST00000396073.3	+	9	1398	c.1117C>A	c.(1117-1119)Cgt>Agt	p.R373S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin			6			Lung(101;0.235)		ACAAGTAGCTCGTCCAGGAAA	0.438000																								0							SO:0001583	missense			ENST00000396073.3	1	1	hg19	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996778	0.19043	.	.	ENSG00000132464	ENST00000396073	T	0.31510	1.49	5.93	1.05	0.20165	.	0.946121	0.08814	N	0.889824	T	0.37489	0.1005	M	0.69358	2.11	0.09310	N	1	P	0.43024	0.798	P	0.48488	0.579	T	0.24083	-1.0170	10	0.48119	T	0.1	0.5722	4.3221	0.11022	0.4017:0.3948:0.1299:0.0735	.	373	Q9NRM1	ENAM_HUMAN	S	373	ENSP00000379383:R373S	ENSP00000379383:R373S	R	+	1	0	ENAM	71727124	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.768000	0.26590	-0.116000	0.11893	-0.182000	0.12963	CGT		TCGA-HV-A7OL-01A-11D-A33T-08	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	1	0	1	168	632	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1.000000	166	627	0	99	2		0	0	0	0	99	2	-3.713108	1	1	0	0		1	1	2	3	2.061157	0	0.370000	1.920000	0.375774	0.990000	9.900000e-01	1.000000	1.000000	0.999257	0.990000	1	9.900000e-01	1.000000
SLC12A7	10723	broad.mit.edu	37	5	1081769	1081769	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:1081769C>T	ENST00000264930.5	-	9	1263	c.1220G>A	c.(1219-1221)aGc>aAc	p.S407N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7			32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)	Potassium Chloride(DB00761)	GGGCAGTGCGCTGGCACGGCT	0.657000																								0							SO:0001583	missense			ENST00000264930.5	0	1	hg19	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	4.580	0.107775	0.08780	.	.	ENSG00000113504	ENST00000264930	D	0.84442	-1.85	4.09	1.77	0.24775	.	1.016290	0.07831	N	0.961315	T	0.77765	0.4179	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58713	-0.7588	10	0.15066	T	0.55	.	8.0261	0.30438	0.0:0.5903:0.3043:0.1054	.	407	Q9Y666	S12A7_HUMAN	N	407	ENSP00000264930:S407N	ENSP00000264930:S407N	S	-	2	0	SLC12A7	1134769	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.155000	0.16362	0.686000	0.31488	0.491000	0.48974	AGC		TCGA-HV-A7OL-01A-11D-A33T-08	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	0	0	0	5	414	0	51	0	9.622736e-03	0	10	0	51	2		0	0	0	0	0	2	1	0.936310	5	410	0	51	2		0	0	0	0	51	2	-4.826088	1	1	121362	1	28	1	1	2	3	2.038376	0	0.370000	1.920000	0.371163	0.060000	2.000000e-02	0.150000	0.060000	0.076868	0.060000	0	4.000000e-02	0.110000
PCDHGA6	56109	broad.mit.edu	37	5	140755802	140755802	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:140755802C>T	ENST00000517434.1	+	1	2152	c.2152C>T	c.(2152-2154)Cgc>Tgc	p.R718C	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6			2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CAGACTGCAGCGCTGGCACAA	0.647000																								0							SO:0001583	missense			ENST00000517434.1	1	1	hg19	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.632413	0.29068	.	.	ENSG00000253731	ENST00000517434	T	0.23147	1.92	5.15	3.22	0.36961	.	2.171190	0.04336	U	0.353247	T	0.40448	0.1117	M	0.86651	2.83	0.28148	N	0.929514	B;B	0.32010	0.351;0.047	B;B	0.29176	0.099;0.066	T	0.49679	-0.8914	10	0.72032	D	0.01	.	12.5336	0.56131	0.3755:0.6245:0.0:0.0	.	718;718	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	C	718	ENSP00000429601:R718C	ENSP00000429601:R718C	R	+	1	0	PCDHGA6	140735986	0.000000	0.05858	0.961000	0.40146	0.199000	0.23934	0.469000	0.22067	1.511000	0.48818	0.655000	0.94253	CGC		TCGA-HV-A7OL-01A-11D-A33T-08	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	1	0	1	137	555	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1.000000	135	550	0	127	2		0	0	0	0	128	2	-3.588126	1	1	0	0		1	1	2	3	2.030408	0	0.370000	1.920000	0.371163	0.990000	9.100000e-01	1.000000	1.000000	0.992188	0.990000	1	9.800000e-01	1.000000
CNOT6	57472	broad.mit.edu	37	5	179992902	179992902	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:179992902G>A	ENST00000393356.1	+	9	1066	c.642G>A	c.(640-642)gcG>gcA	p.A214A	CNOT6_ENST00000261951.4_Silent_p.A214A			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6			23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CATCATGGGCGCTAAACTGGG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000393356.1	0	1	hg19	CCDS4455.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	0	0	0	5	462	0	66	0	0	0	1	0	66	2		0	0	0	0	0	2	1	0.936073	5	457	0	66	2		0	0	0	0	66	2	-2.334326	0	1	121412	1	35	1	1	2	3	2.030408	0	0.370000	1.920000	0.371163	0.060000	1.000000e-02	0.140000	0.060000	0.069018	0.060000	0	3.000000e-02	0.100000
ERBB2IP	55914	broad.mit.edu	37	5	65288599	65288599	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:65288599G>A	ENST00000284037.5	+	3	442	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R18Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein			36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)			CGCTGTCTACGAGGGGAAGAG	0.363000																								0							SO:0001583	missense			ENST00000284037.5	1	1	hg19	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516152	0.96402	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.40476	1.23;1.23;1.39;1.23;1.42;1.03;1.3;1.22;1.26;1.03	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.85130	0.922;0.997;0.934;0.996;0.99;0.992;0.983;0.994	T	0.64437	-0.6408	10	0.66056	D	0.02	.	18.6235	0.91330	0.0:0.0:1.0:0.0	.	18;18;18;18;18;18;18;18	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	Q	18	ENSP00000284037:R18Q;ENSP00000370330:R18Q;ENSP00000397833:R18Q;ENSP00000370326:R18Q;ENSP00000370323:R18Q;ENSP00000370322:R18Q;ENSP00000370325:R18Q;ENSP00000422766:R18Q;ENSP00000426632:R18Q;ENSP00000422015:R18Q	ENSP00000284037:R18Q	R	+	2	0	ERBB2IP	65324355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.388000	0.81334	0.655000	0.94253	CGA		TCGA-HV-A7OL-01A-11D-A33T-08	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	1	0	1	87	406	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1.000000	86	401	0	80	2		0	0	0	0	81	2	-2.966861	1	1	0	0		1	1	2	3	2.038376	0	0.370000	1.920000	0.371163	0.950000	7.700000e-01	1.000000	1.000000	0.938816	0.950000	1	8.600000e-01	1.000000
ARG1	383	broad.mit.edu	37	6	131894445	131894445	+	Missense_Mutation	SNP	T	T	C	rs149310631		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:131894445T>C	ENST00000368087.3	+	1	162	c.23T>C	c.(22-24)aTa>aCa	p.I8T	ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000356962.2_Missense_Mutation_p.I8T			P05089	ARGI1_HUMAN	arginase 1			14	Breast(56;0.0753)			L-Ornithine(DB00129)	TCCAGAACCATAGGGATTATT	0.423000																								0							SO:0001583	missense			ENST00000368087.3	1	1	hg19	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	T	8.586	0.883549	0.17467	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	D;D;D	0.86366	-2.11;-2.11;-2.11	5.79	5.79	0.91817	Ureohydrolase domain (1);	0.325628	0.33290	N	0.005063	D	0.84325	0.5447	M	0.82323	2.585	0.09310	N	0.999999	B;B	0.30793	0.251;0.295	B;B	0.40410	0.318;0.328	T	0.80315	-0.1434	10	0.56958	D	0.05	-5.487	8.5965	0.33718	0.0:0.085:0.0:0.915	.	8;8	P05089-2;P05089	.;ARGI1_HUMAN	T	8	ENSP00000357066:I8T;ENSP00000349446:I8T;ENSP00000417694:I8T	ENSP00000349446:I8T	I	+	2	0	ARG1	131936138	0.030000	0.19436	0.132000	0.22025	0.004000	0.04260	2.543000	0.45752	2.213000	0.71641	0.533000	0.62120	ATA		TCGA-HV-A7OL-01A-11D-A33T-08	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1	1	0	1	68	205	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1.000000	67	202	0	55	2		0	0	0	0	55	2	-20.000000	1	1	121412	1	35	1	0	1	1	1.667650	1	0.370000	1.920000	0.226994	0.940000	8.100000e-01	1.000000	0.990000	0.942874	0.940000	1	8.800000e-01	0.990000
ECT2L	345930	broad.mit.edu	37	6	139206663	139206663	+	Silent	SNP	A	A	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:139206663A>C	ENST00000423192.1	+	16	2210	c.2049A>C	c.(2047-2049)gcA>gcC	p.A683A	ECT2L_ENST00000367682.2_Silent_p.A683A|ECT2L_ENST00000541398.1_Intron			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like			30					TGATACCAGCATTCCGAACTT	0.443000			N, Splice, Mis		ETP ALL										Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0							SO:0001819	synonymous_variant			ENST00000423192.1	0	1	hg19	CCDS43508.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	0	0	0	6	378	1	70	0	0	0	1	1	70	2		0	0	0	0	0	2	0	0.009128	6	372	1	70	18		0	0	0	1	70	2	-6.459637	1	0	0	0		1	0	1	1	1.667650	1	0.370000	1.920000	0.226994	0.070000	2.000000e-02	0.140000	0.070000	0.079176	0.070000	0	4.000000e-02	0.110000
FAM135A	57579	broad.mit.edu	37	6	71232278	71232278	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:71232278C>T	ENST00000418814.2	+	13	1706	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	FAM135A_ENST00000370479.3_Silent_p.Y347Y|FAM135A_ENST00000505769.1_Silent_p.Y364Y|FAM135A_ENST00000361499.3_Silent_p.Y364Y|FAM135A_ENST00000457062.2_Silent_p.Y347Y|FAM135A_ENST00000505868.1_Silent_p.Y364Y	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A			38					CCATTGCATACCAGGAACTTC	0.333000																								0							SO:0001819	synonymous_variant			ENST00000418814.2	1	1	hg19	CCDS55028.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	1	0	0	108	345	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1.000000	108	344	0	97	2		0	0	0	0	97	2	-20.000000	1	1	0	0		1	0	1	1	1.667650	1	0.370000	1.920000	0.226994	0.950000	8.400000e-01	1.000000	0.990000	0.949985	0.950000	1	9.000000e-01	0.990000
RRAGD	58528	broad.mit.edu	37	6	90097155	90097155	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:90097155G>A	ENST00000369415.4	-	2	579	c.303C>T	c.(301-303)tgC>tgT	p.C101C	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1			Ras-related GTP binding D	p.C101C(1)		15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)			CATCTTCCCGGCATATCTTAT	0.428000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000369415.4	0	1	hg19	CCDS5022.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	0	0	0	8	993	0	172	0	1.809577e-03	0	7	0	172	2		0	0	0	0	0	2	1	0.988877	9	981	0	171	2		0	0	0	0	172	2	-1.953115	0	1	0	0		1	0	1	1	1.667650	1	0.370000	1.920000	0.226994	0.030000	1.000000e-02	0.070000	0.040000	0.039388	0.030000	0	2.000000e-02	0.050000
PCOLCE	5118	broad.mit.edu	37	7	100204241	100204241	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:100204241C>T	ENST00000223061.5	+	6	1208	c.928C>T	c.(928-930)Cct>Tct	p.P310S	PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer			23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				AGAGGAATCTCCTTCAGCCCC	0.572000																								0							SO:0001583	missense			ENST00000223061.5	1	1	hg19	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429560	0.25726	.	.	ENSG00000106333	ENST00000223061	T	0.19938	2.11	4.69	3.78	0.43462	.	0.932278	0.09080	N	0.851413	T	0.11580	0.0282	N	0.08118	0	0.18873	N	0.999988	B	0.23937	0.094	B	0.16722	0.016	T	0.22800	-1.0206	10	0.48119	T	0.1	-3.7786	7.9145	0.29810	0.0:0.8816:0.0:0.1184	.	310	Q15113	PCOC1_HUMAN	S	310	ENSP00000223061:P310S	ENSP00000223061:P310S	P	+	1	0	PCOLCE	100042177	0.001000	0.12720	0.003000	0.11579	0.007000	0.05969	1.043000	0.30316	1.134000	0.42165	0.407000	0.27541	CCT		TCGA-HV-A7OL-01A-11D-A33T-08	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	1	0	0	31	139	0	30	1	1	8	534	0	30	2		0	0	0	0	0	2	1	1.000000	30	137	0	29	2		0	0	0	0	30	2	-20.000000	1	1	0	0		1	0	0	0	2.019785	0	0.370000	1.920000	0.367660	0.970000	6.900000e-01	1.000000	1.000000	0.932832	0.970000	1	8.200000e-01	1.000000
ABCB8	11194	broad.mit.edu	37	7	150741223	150741223	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:150741223G>A	ENST00000297504.6	+	16	2048	c.1982G>A	c.(1981-1983)cGc>cAc	p.R661H	ABCB8_ENST00000542328.1_Missense_Mutation_p.R556H|ABCB8_ENST00000498578.1_Missense_Mutation_p.R644H|ABCB8_ENST00000358849.4_Missense_Mutation_p.R644H|ABCB8_ENST00000356058.4_3'UTR			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8			26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	Doxorubicin(DB00997)	AGTGCAGGCCGCACGGTGCTG	0.642000																								0							SO:0001583	missense			ENST00000297504.6	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	33	5.237329	0.95240	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;T	0.85088	-1.94;-1.94;-1.94;-0.67	4.79	4.79	0.61399	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90734	0.7092	M	0.65320	2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	D	0.90458	0.4444	10	0.49607	T	0.09	-2.0118	15.719	0.77694	0.0:0.0:1.0:0.0	.	556;644;661;644	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	H	644;627;661;556;644	ENSP00000351717:R644H;ENSP00000297504:R661H;ENSP00000438776:R556H;ENSP00000418271:R644H	ENSP00000297504:R661H	R	+	2	0	ABCB8	150372156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.512000	0.60469	2.651000	0.90000	0.563000	0.77884	CGC		TCGA-HV-A7OL-01A-11D-A33T-08	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	0	0	0	5	349	0	49	0	6.280345e-01	0	137	0	49	2		0	0	0	0	0	2	1	0.936564	5	346	0	48	2		0	0	0	0	49	2	-4.472165	1	1	121406	2	34	1	1	2	3	2.033338	0	0.370000	1.920000	0.371163	0.080000	2.000000e-02	0.180000	0.080000	0.090840	0.080000	0	4.000000e-02	0.130000
POM121L12	285877	broad.mit.edu	37	7	53104235	53104235	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:53104235G>T	ENST00000408890.4	+	1	887	c.871G>T	c.(871-873)Gct>Tct	p.A291S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12			61					CACCCAGTCTGCTGGCCCCTT	0.607000																								0							SO:0001583	missense			ENST00000408890.4	1	1	hg19	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	9.797	1.179487	0.21787	.	.	ENSG00000221900	ENST00000408890	T	0.26810	1.71	1.78	0.86	0.19042	.	.	.	.	.	T	0.24122	0.0584	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.66602	0.945	T	0.12578	-1.0542	9	0.87932	D	0	.	6.0476	0.19768	0.0:0.3261:0.6739:0.0	.	291	Q8N7R1	P1L12_HUMAN	S	291	ENSP00000386133:A291S	ENSP00000386133:A291S	A	+	1	0	POM121L12	53071729	0.000000	0.05858	0.018000	0.16275	0.002000	0.02628	-0.523000	0.06230	0.316000	0.23135	-0.304000	0.09214	GCT		TCGA-HV-A7OL-01A-11D-A33T-08	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	1	0	1	56	330	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1.000000	55	327	0	61	2		0	0	0	0	61	2	-20.000000	1	1	0	0		1	0	0	0	2.019785	0	0.370000	1.920000	0.367660	0.770000	6.000000e-01	0.970000	0.770000	0.786903	0.770000	0	6.800000e-01	0.880000
COL1A2	1278	broad.mit.edu	37	7	94052353	94052353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:94052353C>T	ENST00000297268.6	+	40	2959	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2		COL1A2/PLAG1(3)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)	Collagenase(DB00048)	TCCAGTTGGCCGAACTGGAGA	0.567000										HNSCC(75;0.22)														0							SO:0001587	stop_gained			ENST00000297268.6	0	1	hg19	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	44	11.258435	0.99538	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.23	4.34	0.51931	.	0.146062	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5039	0.75722	0.1397:0.8603:0.0:0.0	.	.	.	.	X	830;831	.	ENSP00000297268:R830X	R	+	1	2	COL1A2	93890289	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.529000	0.35996	1.335000	0.45486	0.563000	0.77884	CGA		TCGA-HV-A7OL-01A-11D-A33T-08	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	1	0	1	108	427	0	80	0	1	1	1188	0	80	2		0	0	0	0	0	2	1	1.000000	105	421	0	80	2		0	0	0	0	80	2	-3.235997	1	1	0	0		1	0	0	0	2.019785	0	0.370000	1.920000	0.367660	0.990000	9.000000e-01	1.000000	1.000000	0.992100	0.990000	1	9.900000e-01	1.000000
LZTS1	11178	broad.mit.edu	37	8	20112535	20112535	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:20112535C>T	ENST00000381569.1	-	2	515	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D|LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1			29					GCTGGACTTGCCGTGACCGGA	0.577000																								0							SO:0001583	missense			ENST00000381569.1	0	1	hg19	CCDS6015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.830957|2.830957	0.50845|0.50845	.|.	.|.	ENSG00000061337|ENSG00000061337	ENST00000334294|ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	.|T;T;T	.|0.24151	.|2.2;2.2;1.87	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.457888	.|0.25601	.|N	.|0.029548	.|T	.|0.17577	.|0.0422	N|N	0.14661|0.14661	0.345|0.345	0.42195|0.42195	D|D	0.991743|0.991743	.|P;P	.|0.41366	.|0.589;0.747	.|B;B	.|0.39258	.|0.295;0.255	.|T	.|0.02844	.|-1.1103	.|10	.|0.62326	.|D	.|0.03	.|-41.4352	13.5254|13.5254	0.61593|0.61593	0.0:0.8439:0.1561:0.0|0.0:0.8439:0.1561:0.0	.|.	.|53;53	.|Q9Y250-4;Q9Y250	.|.;LZTS1_HUMAN	.|D	-1|53	.|ENSP00000370981:G53D;ENSP00000265801:G53D;ENSP00000429263:G53D	.|ENSP00000265801:G53D	.|G	-|-	.|2	.|0	LZTS1|LZTS1	20156815|20156815	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	2.376000|2.376000	0.44292|0.44292	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	.|GGC		TCGA-HV-A7OL-01A-11D-A33T-08	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	0	0	0	5	527	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	0.936566	5	523	0	72	2		0	0	0	0	72	2	-2.374609	0	1	0	0		1	1	2	3	2.035597	0	0.370000	1.920000	0.371163	0.050000	1.000000e-02	0.120000	0.050000	0.060613	0.050000	0	3.000000e-02	0.090000
MYOM2	9172	broad.mit.edu	37	8	2041801	2041801	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:2041801G>A	ENST00000262113.4	+	17	2149	c.2008G>A	c.(2008-2010)Gtg>Atg	p.V670M	MYOM2_ENST00000523438.1_Missense_Mutation_p.V95M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2			104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)			TCTCAGGTTCGTGGTGCACGG	0.498000																								0							SO:0001583	missense			ENST00000262113.4	1	1	hg19	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095427	0.76870	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.57595	0.39;0.39	5.44	4.57	0.56435	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.065948	0.64402	D	0.000013	T	0.70307	0.3209	M	0.76328	2.33	0.41362	D	0.987435	D	0.76494	0.999	D	0.65443	0.935	T	0.75238	-0.3388	10	0.72032	D	0.01	.	14.5057	0.67750	0.071:0.0:0.929:0.0	.	670	P54296	MYOM2_HUMAN	M	670;95	ENSP00000262113:V670M;ENSP00000428396:V95M	ENSP00000262113:V670M	V	+	1	0	MYOM2	2029208	1.000000	0.71417	0.913000	0.36048	0.847000	0.48162	6.115000	0.71566	1.298000	0.44778	0.655000	0.94253	GTG		TCGA-HV-A7OL-01A-11D-A33T-08	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	1	0	1	67	324	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1.000000	67	319	0	69	2		0	0	0	0	69	2	-20.000000	1	1	121412	2	37	1	1	2	3	2.035597	0	0.370000	1.920000	0.371163	0.920000	7.300000e-01	1.000000	1.000000	0.916391	0.920000	1	8.200000e-01	1.000000
FBXW2	26190	broad.mit.edu	37	9	123527025	123527025	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:123527025G>A	ENST00000608872.1	-	8	1364	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	FBXW2_ENST00000493559.1_Intron|FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2			4					CTCTCTGTCCGCAAGTCCATG	0.517000																								0							SO:0001583	missense			ENST00000608872.1	0	1	hg19	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972103	0.34754	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.19250	2.16;2.16	4.95	0.397	0.16314	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	L	0.47716	1.5	0.58432	D	0.999996	B;D;D	0.89917	0.107;1.0;0.999	B;D;D	0.75020	0.009;0.985;0.985	T	0.09443	-1.0674	10	0.72032	D	0.01	-9.1372	13.1259	0.59354	0.0:0.0:0.4582:0.5418	.	328;393;393	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	W	393;328;393	ENSP00000363036:R393W;ENSP00000341161:R328W	ENSP00000341161:R328W	R	-	1	2	FBXW2	122566846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.010000	0.40913	0.155000	0.19261	0.563000	0.77884	CGG		TCGA-HV-A7OL-01A-11D-A33T-08	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2	0	0	0	7	573	0	90	0	5.114182e-01	1	129	0	90	2		0	0	0	0	0	2	1	0.980224	7	569	0	90	2		0	0	0	0	90	2	-1.804728	0	1	0	0		1	1	2	3	2.030095	0	0.370000	1.920000	0.371163	0.060000	2.000000e-02	0.130000	0.060000	0.074241	0.060000	0	4.000000e-02	0.100000
ANGPTL2	23452	broad.mit.edu	37	9	129854112	129854112	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:129854112G>A	ENST00000373425.3	-	4	1736	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.S71S	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	p.S373S(1)		18					CTTTGCGGCCGGACCAGTCCT	0.552000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000373425.3	0	1	hg19	CCDS6868.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	0	0	0	8	1458	0	224	0	1.385979e-02	0	28	0	224	2		0	0	0	0	0	2	1	0.988781	9	1440	0	220	2		0	0	0	0	224	2	-1.705499	0	1	0	0		1	1	2	3	2.030095	0	0.370000	1.920000	0.371163	0.020000	0	0.060000	0.030000	0.032339	0.020000	0	1.000000e-02	0.050000
PRRX2	51450	broad.mit.edu	37	9	132481624	132481624	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:132481624G>A	ENST00000372469.4	+	2	601	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2			3		Ovarian(14;0.00556)			GTGTTCGAGCGCACGCACTAC	0.701000																								0							SO:0001583	missense			ENST00000372469.4	0	1	hg19	CCDS6926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.387915|5.387915	0.95988|0.95988	.|.	.|.	ENSG00000167157|ENSG00000167157	ENST00000557730|ENST00000372469	.|D	.|0.96334	.|-3.98	4.18|4.18	4.18|4.18	0.49190|0.49190	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97340|0.97340	0.9130|0.9130	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	D|D	0.98098|0.98098	1.0413|1.0413	5|10	.|0.87932	.|D	.|0	.|.	15.6697|15.6697	0.77264|0.77264	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|125	.|Q99811	.|PRRX2_HUMAN	T|H	40|125	.|ENSP00000361547:R125H	.|ENSP00000361547:R125H	A|R	+|+	1|2	0|0	PRRX2|PRRX2	131521445|131521445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.471000|5.471000	0.66762|0.66762	2.187000|2.187000	0.69744|0.69744	0.462000|0.462000	0.41574|0.41574	GCA|CGC		TCGA-HV-A7OL-01A-11D-A33T-08	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	0	0	0	4	57	0	11	0	6.561796e-01	0	31	0	11	2		0	0	0	0	0	2	1	0.892642	4	57	0	11	2		0	0	0	0	11	2	-8.845400	1	1	0	0		1	1	2	3	2.030095	0	0.370000	1.920000	0.371163	0.380000	1.300000e-01	0.830000	0.340000	0.417604	0.380000	0	2.300000e-01	0.590000
FIBCD1	84929	broad.mit.edu	37	9	133779512	133779512	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:133779512C>T	ENST00000372338.4	-	7	1567	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G442D|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G284D	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1			12	all_hematologic(7;0.0028)				GTACTGCCAGCCGGTCCAGGA	0.637000																								0							SO:0001583	missense			ENST00000372338.4	0	1	hg19	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702186	0.88924	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337	D;D;D	0.82619	-1.63;-1.63;-1.63	4.66	4.66	0.58398	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92390	0.5920	10	0.66056	D	0.02	.	16.1061	0.81223	0.0:1.0:0.0:0.0	.	442	Q8N539	FBCD1_HUMAN	D	442;442;284	ENSP00000414501:G442D;ENSP00000361413:G442D;ENSP00000361412:G284D	ENSP00000361412:G284D	G	-	2	0	FIBCD1	132769333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.967000	0.70403	2.138000	0.66242	0.455000	0.32223	GGC		TCGA-HV-A7OL-01A-11D-A33T-08	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	0	0	0	5	414	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	0.935907	5	409	0	86	2		0	0	0	0	87	2	-2.916400	1	1	0	0		1	1	2	3	2.030095	0	0.370000	1.920000	0.371163	0.060000	2.000000e-02	0.150000	0.060000	0.076868	0.060000	0	4.000000e-02	0.110000
COL5A1	1289	broad.mit.edu	37	9	137593148	137593148	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:137593148G>A	ENST00000371817.3	+	4	1037	c.623G>A	c.(622-624)gGc>gAc	p.G208D	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			ATCGTGTTTGGCACCCGGATC	0.552000																								0							SO:0001583	missense			ENST00000371817.3	1	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075833	0.55646	.	.	ENSG00000130635	ENST00000371817	D	0.95918	-3.85	4.93	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000001	D	0.97870	0.9300	H	0.95260	3.645	0.58432	D	0.999994	P	0.52692	0.955	P	0.57204	0.815	D	0.98523	1.0624	10	0.87932	D	0	.	13.5115	0.61515	0.0763:0.0:0.9237:0.0	.	208	P20908	CO5A1_HUMAN	D	208	ENSP00000360882:G208D	ENSP00000360882:G208D	G	+	2	0	COL5A1	136732969	1.000000	0.71417	0.742000	0.31022	0.439000	0.31926	9.489000	0.97949	1.196000	0.43129	0.491000	0.48974	GGC		TCGA-HV-A7OL-01A-11D-A33T-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	0	8	143	0	27	0	2.436969e-01	0	16	0	27	2		0	0	0	0	0	2	1	0.989415	8	141	0	27	2		0	0	0	0	27	2	-11.499900	1	1	0	0		1	1	2	3	2.030095	0	0.370000	1.920000	0.371163	0.290000	1.400000e-01	0.540000	0.280000	0.315003	0.290000	0	2.000000e-01	0.410000
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)			TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	GRCh37	CM014695	CDKN2A	M	rs121913388	SO:0001587	stop_gained			ENST00000304494.5	0	1	hg19	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		TCGA-HV-A7OL-01A-11D-A33T-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	28	90	0	16	1	9.999910e-01	56	10	0	16	2	1	1	33	115	0	155	2	1	1.000000	21	75	0	11	2		0	0	0	0	16	2	-3.594689	1	1	0	0		1	0	1	1	1.677653	1	0.370000	1.920000	0.226994	0.890000	6.700000e-01	1.000000	0.990000	0.887197	0.890000	1	7.900000e-01	0.970000
PRUNE2	158471	broad.mit.edu	37	9	79438590	79438590	+	Silent	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:79438590T>C	ENST00000376718.3	-	6	837	c.714A>G	c.(712-714)ggA>ggG	p.G238G	PRUNE2_ENST00000376713.3_Silent_p.G238G|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					CTTTTATTTCTCCATCTGACA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000376718.3	1	1	hg19	CCDS47982.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1	90	486	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1.000000	90	485	0	76	2		0	0	0	0	76	2	-20.000000	1	1	0	0		1	1	2	3	2.030095	0	0.370000	1.920000	0.371163	0.840000	6.900000e-01	1.000000	0.840000	0.848710	0.840000	0	7.600000e-01	0.930000
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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-HV-A7OL-01A-11D-A33T-08	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	0	0	0	7	962	0	152	0	0	0	1	0	152	2		0	0	0	0	0	2	1	0.979802	7	951	0	152	2		0	0	0	0	152	2	-1.737522	0	1	0	0		1	0	1	1			0.370000	1.920000	0.370000	0.010000	0	0.040000	0.020000	0.022227	0.010000	0	0	0.030000
PCDH11X	27328	broad.mit.edu	37	X	91090548	91090548	+	Silent	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:91090548A>G	ENST00000373094.1	+	1	890	c.45A>G	c.(43-45)gcA>gcG	p.A15A	PCDH11X_ENST00000298274.8_Silent_p.A15A|PCDH11X_ENST00000361724.1_Silent_p.A15A|PCDH11X_ENST00000373088.1_Silent_p.A15A|PCDH11X_ENST00000395337.2_Silent_p.A15A|PCDH11X_ENST00000504220.2_Silent_p.A15A|PCDH11X_ENST00000361655.2_Silent_p.A15A|PCDH11X_ENST00000406881.1_Silent_p.A15A|PCDH11X_ENST00000373097.1_Silent_p.A15A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked			159					TCCTGCTAGCATGCGTGGTGT	0.478000													NSCLC(38;925 1092 2571 38200 45895)											0							SO:0001819	synonymous_variant			ENST00000373094.1	0	1	hg19	CCDS14461.1																																																																																				TCGA-HV-A7OL-01A-11D-A33T-08	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	0	0	0	6	208	1	36		0	0	0	1	36	2		0	0	0	0	0	2	0	0.008958	6	207	1	36	18		0	0	0	1	36	2	-8.192649	1	0	0	0		1	0	1	1			0.370000	1.920000	0.370000	0.070000	2.000000e-02	0.150000	0.080000	0.086886	0.070000	0	5.000000e-02	0.120000
DIAPH2	1730	broad.mit.edu	37	X	96185760	96185760	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:96185760T>G	ENST00000324765.8	+	10	1354	c.1007T>G	c.(1006-1008)cTt>cGt	p.L336R	DIAPH2_ENST00000355827.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L336R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L332R|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L336R			O60879	DIAP2_HUMAN	diaphanous-related formin 2			51					ATAAATGCCCTTGTCACTTCT	0.303000																								0							SO:0001583	missense			ENST00000324765.8	1	1	hg19	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234447	0.58886	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.93	4.93	0.64822	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	D	0.96411	0.8829	M	0.89095	3.005	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97111	0.9804	10	0.87932	D	0	.	13.9748	0.64265	0.0:0.0:0.0:1.0	.	336;336;343	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	R	336;332;336;336;336;343	ENSP00000362152:L336R;ENSP00000362145:L332R;ENSP00000348082:L336R;ENSP00000362140:L336R;ENSP00000321348:L336R	ENSP00000321348:L336R	L	+	2	0	DIAPH2	96072416	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.424000	0.80242	1.745000	0.51790	0.481000	0.45027	CTT		TCGA-HV-A7OL-01A-11D-A33T-08	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	1	0	1	65	125	0	28	1	2.743426e-01	3	0	0	28	2		0	0	0	0	0	2	1	1.000000	64	124	0	28	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	0	1	1			0.370000	1.920000	0.370000	0.890000	7.300000e-01	1.000000	0.920000	0.890351	0.890000	1	8.100000e-01	0.960000
