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
NTM	50863	broad.mit.edu	37	11	132180047	132180047	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:132180047G>A	ENST00000374786.1	+	5	1182	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	NTM_ENST00000539799.1_Missense_Mutation_p.V235M|NTM_ENST00000425719.2_Missense_Mutation_p.V235M|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.V235M|NTM_ENST00000374791.3_Missense_Mutation_p.V235M|NTM_ENST00000427481.2_Missense_Mutation_p.V226M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin			56					AGGTGTCCCCGTGGGACAAAA	0.468000																								0							SO:0001583	missense			ENST00000374786.1	1	1	hg19	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443598	0.83993	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.053565	0.85682	D	0.000000	T	0.79741	0.4498	M	0.76938	2.355	0.58432	D	0.999997	D;P;P;P;P;P	0.57899	0.981;0.955;0.723;0.88;0.723;0.855	P;B;B;B;B;B	0.47786	0.557;0.418;0.216;0.418;0.294;0.294	T	0.80850	-0.1198	10	0.48119	T	0.1	-13.6786	16.051	0.80763	0.0:0.1333:0.8667:0.0	.	235;226;235;235;235;235	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	235;235;226;235;235;235	ENSP00000363923:V235M;ENSP00000437668:V235M;ENSP00000416320:V226M;ENSP00000363918:V235M;ENSP00000396722:V235M;ENSP00000363916:V235M	ENSP00000363916:V235M	V	+	1	0	NTM	131685257	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	3.772000	0.55325	2.884000	0.98904	0.655000	0.94253	GTG		TCGA-IB-7645-01A-22D-2201-08	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	1	0	0	42	631	0	178	0	9.850037e-01	0	100	0	178	2		0	0	0	0	0	2	1	1.000000	42	623	0	177	2		0	0	0	0	178	2	-7.924103	1	1	121412	2	37	1	0	0	0	1.952570	0	0.140000	1.990000	0.113950	0.860000	0.630000	1.000000	1.000000	0.860817	0.860000	1	0.730000	1.000000
IGSF22	283284	broad.mit.edu	37	11	18736168	18736168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:18736168C>T	ENST00000513874.1	-	12	1674	c.1535G>A	c.(1534-1536)cGt>cAt	p.R512H	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	p.R512H(2)		56					TGTGGCCAGACGCTCTGGGGA	0.612000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000513874.1	1	1	hg19	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209186	0.58343	.	.	ENSG00000179057	ENST00000513874	T	0.55588	0.51	4.51	1.44	0.22558	.	0.444637	0.16671	N	0.204344	T	0.52191	0.1719	L	0.39898	1.24	0.09310	N	1	D	0.76494	0.999	P	0.57101	0.813	T	0.40701	-0.9549	10	0.51188	T	0.08	.	6.6056	0.22724	0.0:0.6562:0.0:0.3438	.	512	D6RGV7	.	H	512	ENSP00000421191:R512H	ENSP00000322422:R512H	R	-	2	0	IGSF22	18692744	0.359000	0.24955	0.086000	0.20670	0.924000	0.55760	0.834000	0.27518	0.003000	0.14656	0.551000	0.68910	CGT		TCGA-IB-7645-01A-22D-2201-08	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	0	0	0	8	221	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	0.988966	8	217	0	64	2		0	0	0	0	64	2	-10.002770	1	1	121016	4	33	1	0	0	0	1.962427	0	0.140000	1.990000	0.119033	0.500000	0.230000	0.870000	0.470000	0.525011	0.500000	0	0.350000	0.690000
DDB1	1642	broad.mit.edu	37	11	61091514	61091514	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:61091514C>T	ENST00000301764.7	-	7	1255	c.858G>A	c.(856-858)gaG>gaA	p.E286E	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa			48					GTTCCTCCTTCTCCAAAAGCA	0.517000								Nucleotide excision repair (NER)																0							SO:0001819	synonymous_variant			ENST00000301764.7	1	1	hg19	CCDS31576.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	0	0	0	24	800	0	197	1	9.912909e-01	6	243	0	197	2		0	0	0	0	0	2	1	1.000000	24	789	0	195	2		0	0	0	0	197	2	-2.936624	1	0	0	0		1	0	0	0	1.933406	0	0.140000	1.990000	0.104913	0.400000	0.260000	0.570000	0.400000	0.411131	0.400000	0	0.320000	0.490000
DDB1	1642	broad.mit.edu	37	11	61091563	61091563	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:61091563C>G	ENST00000301764.7	-	7	1206	c.809G>C	c.(808-810)aGa>aCa	p.R270T	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa			48					CAGCAGGTATCTTGAGCCATT	0.493000								Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000301764.7	1	1	hg19	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176730	0.94846	.	.	ENSG00000167986	ENST00000301764;ENST00000535174;ENST00000541513	T;T;T	0.44083	0.93;0.93;0.93	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.972;0.958;0.998	T	0.71234	-0.4653	10	0.40728	T	0.16	-16.3903	19.8965	0.96963	0.0:1.0:0.0:0.0	.	270;270;270	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	T	270;53;85	ENSP00000301764:R270T;ENSP00000446044:R53T;ENSP00000442660:R85T	ENSP00000301764:R270T	R	-	2	0	DDB1	60848139	1.000000	0.71417	0.613000	0.29037	0.952000	0.60782	7.818000	0.86416	2.717000	0.92951	0.655000	0.94253	AGA		TCGA-IB-7645-01A-22D-2201-08	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	0	0	0	19	761	0	190	1	9.327430e-01	7	178	0	190	2		0	0	0	0	0	2	1	0.999989	19	749	0	186	2		0	0	0	0	190	2	-3.021983	1	0	0	0		1	0	0	0	1.933406	0	0.140000	1.990000	0.104913	0.330000	0.200000	0.500000	0.330000	0.347206	0.330000	0	0.260000	0.420000
LRRC43	254050	broad.mit.edu	37	12	122687867	122687867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:122687867C>T	ENST00000339777.4	+	12	1877	c.1849C>T	c.(1849-1851)Ccg>Tcg	p.P617S	B3GNT4_ENST00000324189.4_5'Flank|B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000425921.1_Missense_Mutation_p.P432S|B3GNT4_ENST00000535274.1_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43			19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				CTCAGAAAAGCCGAAAGCCGT	0.607000																								0							SO:0001583	missense			ENST00000339777.4	1	1	hg19	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761252	0.15914	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.52526	0.66;1.08	4.59	-9.19	0.00685	.	3.517060	0.00721	N	0.000881	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34502	-0.9826	10	0.02654	T	1	0.2056	1.2819	0.02043	0.1967:0.3745:0.1692:0.2597	.	617	Q8N309	LRC43_HUMAN	S	617;488;432	ENSP00000344233:P617S;ENSP00000416628:P432S	ENSP00000289014:P488S	P	+	1	0	LRRC43	121253820	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.381000	0.02549	-2.550000	0.00480	-0.311000	0.09066	CCG		TCGA-IB-7645-01A-22D-2201-08	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	1	0	0	22	379	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	0.999999	22	375	0	110	2		0	0	0	0	111	2	-5.699074	1	1	0	0		1	0	0	0	1.977355	0	0.140000	1.990000	0.125305	0.770000	0.500000	1.000000	1.000000	0.778938	0.770000	0	0.620000	0.940000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-IB-7645-01A-22D-2201-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	14	116	0	18	1	9.463491e-01	19	25	0	18	2	1	1	28	581	0	400	2	1	0.999789	13	115	0	18	2	1	1	324	7698	0	18	2	-8.307574	1	1	0	0		1	0	0	0	1.977355	0	0.140000	1.990000	0.125305	0.990000	0.840000	1.000000	1.000000	0.990287	0.990000	1	0.990000	1.000000
KCNA6	3742	broad.mit.edu	37	12	4919409	4919409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:4919409G>A	ENST00000280684.3	+	1	1068	c.202G>A	c.(202-204)Gga>Aga	p.G68R	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.G68R			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6			49				Dalfampridine(DB06637)	CACGCTGCTCGGAGACCCTGG	0.617000										HNSCC(72;0.22)														0							SO:0001583	missense			ENST00000280684.3	1	1	hg19	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075087	0.76415	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.78364	-1.17;-1.17	4.57	3.68	0.42216	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.056516	0.64402	D	0.000001	D	0.92750	0.7695	H	0.99368	4.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94196	0.7445	10	0.87932	D	0	.	11.8345	0.52316	0.085:0.0:0.915:0.0	.	68	P17658	KCNA6_HUMAN	R	68	ENSP00000408321:G68R;ENSP00000280684:G68R	ENSP00000280684:G68R	G	+	1	0	KCNA6	4789670	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.484000	0.97940	1.146000	0.42352	0.462000	0.41574	GGA		TCGA-IB-7645-01A-22D-2201-08	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	0	0	0	10	352	0	84	0	2.910003e-03	0	3	0	84	2		0	0	0	0	0	2	1	0.996617	10	344	0	80	2		0	0	0	0	84	2	-3.206027	1	1	0	0		1	0	1	1	1.991314	0	0.140000	1.990000	0.133938	0.400000	0.200000	0.670000	0.380000	0.421043	0.400000	0	0.290000	0.540000
KRT75	9119	broad.mit.edu	37	12	52827640	52827640	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:52827640C>T	ENST00000252245.5	-	1	669	c.449G>A	c.(448-450)cGc>cAc	p.R150H		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75			28					GATCTGCTCGCGCTCCTCGGC	0.562000																								0							SO:0001583	missense			ENST00000252245.5	1	1	hg19	CCDS8827.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.4	4.145521	0.77888	.	.	ENSG00000170454	ENST00000252245	D	0.90133	-2.62	5.74	4.72	0.59763	Filament (1);	0.164522	0.29692	N	0.011442	D	0.94785	0.8316	H	0.94808	3.585	0.30984	N	0.722149	P	0.50943	0.94	P	0.52793	0.709	D	0.94024	0.7295	10	0.87932	D	0	.	9.8904	0.41288	0.0:0.7972:0.0:0.2028	.	150	O95678	K2C75_HUMAN	H	150	ENSP00000252245:R150H	ENSP00000252245:R150H	R	-	2	0	KRT75	51113907	0.984000	0.35163	0.608000	0.28969	0.884000	0.51177	2.211000	0.42825	1.168000	0.42723	0.655000	0.94253	CGC		TCGA-IB-7645-01A-22D-2201-08	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	0	0	0	30	690	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	1.000000	30	681	0	145	2		0	0	0	0	145	2	-4.099637	1	1	121412	3	38	1	0	0	0	1.977355	0	0.140000	1.990000	0.125305	0.580000	0.400000	0.800000	0.580000	0.597213	0.580000	0	0.480000	0.700000
KRT77	374454	broad.mit.edu	37	12	53097128	53097128	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:53097128T>C	ENST00000341809.3	-	1	119	c.91A>G	c.(91-93)Agt>Ggt	p.S31G	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77			25					ACTGCCGGACTCCCACCACCA	0.532000																								0							SO:0001583	missense			ENST00000341809.3	1	1	hg19	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	T	9.588	1.125287	0.20959	.	.	ENSG00000189182	ENST00000341809	D	0.85629	-2.01	4.63	2.25	0.28309	.	.	.	.	.	T	0.77725	0.4173	L	0.46741	1.465	0.34255	D	0.679289	B	0.06786	0.001	B	0.06405	0.002	T	0.72367	-0.4315	9	0.35671	T	0.21	.	7.0093	0.24853	0.0:0.2621:0.0:0.7379	.	31	Q7Z794	K2C1B_HUMAN	G	31	ENSP00000342710:S31G	ENSP00000342710:S31G	S	-	1	0	KRT77	51383395	0.000000	0.05858	0.349000	0.25694	0.480000	0.33159	0.067000	0.14510	0.377000	0.24735	0.482000	0.46254	AGT		TCGA-IB-7645-01A-22D-2201-08	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	0	0	0	8	286	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	0.988875	9	280	0	70	2		0	0	0	0	70	2	-9.304051	1	1	0	0		1	0	0	0	1.977355	0	0.140000	1.990000	0.125305	0.390000	0.180000	0.690000	0.370000	0.416926	0.390000	0	0.270000	0.550000
DYRK2	8445	broad.mit.edu	37	12	68051338	68051338	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:68051338C>T	ENST00000344096.3	+	3	1064	c.651C>T	c.(649-651)caC>caT	p.H217H	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Silent_p.H144H	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2			30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)		CCCACGATCACGTGGCTTACA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000344096.3	1	1	hg19	CCDS8978.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1	1	0	0	16	233	0	47	1	9.863065e-01	7	98	0	47	2		0	0	0	0	0	2	1	0.999934	16	229	0	46	2		0	0	0	0	47	2	-19.540960	1	1	0	0		1	0	0	0	1.977355	0	0.140000	1.990000	0.125305	0.900000	0.540000	1.000000	1.000000	0.869756	0.900000	1	0.700000	1.000000
MYO16	23026	broad.mit.edu	37	13	109704657	109704657	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:109704657A>G	ENST00000357550.2	+	24	2857	c.2816A>G	c.(2815-2817)aAt>aGt	p.N939S	MYO16_ENST00000356711.2_Missense_Mutation_p.N939S|MYO16_ENST00000457511.2_Missense_Mutation_p.N451S	NM_001198950.1	NP_001185879.1			myosin XVI			121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		GCTAGTGAAAATGTCGTGATC	0.373000																								0							SO:0001583	missense			ENST00000357550.2	1	1	hg19	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904230	0.52333	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	D;D;D	0.86627	-2.15;-2.15;-2.15	5.96	5.96	0.96718	Myosin head, motor domain (2);	0.000000	0.43260	U	0.000582	D	0.84005	0.5377	L	0.50993	1.605	0.51767	D	0.99993	P;B;P	0.40282	0.453;0.291;0.711	B;B;B	0.38056	0.172;0.1;0.264	T	0.83210	-0.0074	9	.	.	.	.	15.6089	0.76699	1.0:0.0:0.0:0.0	.	451;939;939	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	S	939;939;727;451	ENSP00000349145:N939S;ENSP00000350160:N939S;ENSP00000401633:N451S	.	N	+	2	0	MYO16	108502658	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.917000	0.69989	2.279000	0.76181	0.533000	0.62120	AAT		TCGA-IB-7645-01A-22D-2201-08	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	1	0	1	53	395	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1.000000	52	390	0	69	2		0	0	0	0	69	2	-20.000000	1	1	0	0		1	2	2	4	2.150644	1	0.140000	1.990000	0.203556	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
UGGT2	55757	broad.mit.edu	37	13	96592266	96592266	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:96592266T>C	ENST00000376747.3	-	16	1827	c.1757A>G	c.(1756-1758)cAt>cGt	p.H586R		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2			60					AATATTAGCATGAGGAAATGT	0.333000																								0							SO:0001583	missense			ENST00000376747.3	1	1	hg19	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011877	0.35511	.	.	ENSG00000102595	ENST00000376747	T	0.29917	1.55	5.64	4.45	0.53987	.	0.380232	0.32671	N	0.005790	T	0.26448	0.0646	L	0.48362	1.52	0.80722	D	1	B	0.14012	0.009	B	0.17098	0.017	T	0.04333	-1.0959	10	0.21014	T	0.42	-3.9518	11.5681	0.50818	0.0:0.0702:0.0:0.9298	.	586	Q9NYU1	UGGG2_HUMAN	R	586	ENSP00000365938:H586R	ENSP00000365938:H586R	H	-	2	0	UGGT2	95390267	1.000000	0.71417	0.970000	0.41538	0.974000	0.67602	3.189000	0.50965	0.960000	0.38005	0.459000	0.35465	CAT		TCGA-IB-7645-01A-22D-2201-08	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	1	0	1	93	578	0	79	1	9.135322e-01	8	20	0	79	2		0	0	0	0	0	2	1	1.000000	93	573	0	79	2		0	0	0	0	79	2	-20.000000	1	1	0	0		1	2	2	4	2.150644	1	0.140000	1.990000	0.203556	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
OR4Q3	441669	broad.mit.edu	37	14	20216249	20216249	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:20216249C>T	ENST00000331723.1	+	1	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3			47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		CTTATGCTATCATCCTGATCA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000331723.1	1	1	hg19	CCDS32020.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2	1	0	0	18	465	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	0.999982	18	463	0	80	2		0	0	0	0	80	2	-3.856611	1	1	0	0		1	1	2	3	2.057628	0	0.140000	1.990000	0.155372	0.580000	0.340000	1.000000	0.540000	0.643825	0.580000	0	0.440000	1.000000
C16orf89	146556	broad.mit.edu	37	16	5112524	5112524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:5112524G>A	ENST00000315997.5	-	2	461	c.260C>T	c.(259-261)cCg>cTg	p.P87L	C16orf89_ENST00000422873.1_Missense_Mutation_p.P125L|C16orf89_ENST00000472572.3_Missense_Mutation_p.P87L|C16orf89_ENST00000350219.4_Missense_Mutation_p.P125L|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_Missense_Mutation_p.P87L	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	p.P125L(2)|p.P87L(1)		12					CAGGCTCAGCGGCTGCAGCAG	0.562000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000315997.5	1	1	hg19	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	G	6.069	0.381079	0.11466	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.98	0.777	0.18538	.	0.331114	0.28268	N	0.015977	T	0.22936	0.0554	L	0.56769	1.78	0.23879	N	0.996585	B;B	0.30211	0.179;0.273	B;B	0.25140	0.026;0.058	T	0.14615	-1.0466	10	0.49607	T	0.09	-14.0929	4.1243	0.10119	0.266:0.0:0.5735:0.1606	.	87;125	Q6UX73;G3V0F0	CP089_HUMAN;.	L	87;87;87;125;125;87	ENSP00000417158:P87L;ENSP00000420566:P87L;ENSP00000390402:P125L;ENSP00000283478:P125L;ENSP00000324672:P87L	ENSP00000324672:P87L	P	-	2	0	C16orf89	5052525	0.000000	0.05858	0.119000	0.21687	0.049000	0.14656	-0.083000	0.11286	-0.062000	0.13088	-1.263000	0.01449	CCG		TCGA-IB-7645-01A-22D-2201-08	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	1	0	0	22	418	0	106	0	7.611367e-01	0	54	0	106	2		0	0	0	0	0	2	1	0.999999	18	412	0	105	2		0	0	0	0	106	2	-3.021364	1	1	120850	3	38	1	1	2	3	2.043292	0	0.140000	1.990000	0.152459	0.760000	0.480000	1.000000	1.000000	0.781301	0.760000	0	0.600000	1.000000
ADAD2	161931	broad.mit.edu	37	16	84228111	84228111	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:84228111C>T	ENST00000315906.5	+	2	534	c.482C>T	c.(481-483)gCg>gTg	p.A161V	RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.A233V|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2			13					GCGGGCACTGCGAATAGCAAG	0.652000																								0							SO:0001583	missense			ENST00000315906.5	0	1	hg19	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922921	0.33908	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.77098	-1.07;-1.07	4.15	0.639	0.17747	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.434885	0.19591	N	0.110615	T	0.72558	0.3475	L	0.29908	0.895	0.09310	N	1	D;P	0.61697	0.99;0.951	P;B	0.51945	0.685;0.32	T	0.66160	-0.5993	10	0.56958	D	0.05	-10.474	11.4451	0.50118	0.0:0.4186:0.5814:0.0	.	161;233	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	V	161;233	ENSP00000325153:A161V;ENSP00000268624:A233V	ENSP00000268624:A233V	A	+	2	0	ADAD2	82785612	0.040000	0.19996	0.001000	0.08648	0.003000	0.03518	0.694000	0.25512	0.449000	0.26747	0.511000	0.50034	GCG		TCGA-IB-7645-01A-22D-2201-08	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	1	0	1	7	88	0	20	0	0	0	1	0	20	2		0	0	0	0	0	2	1	0.981954	7	88	0	20	2		0	0	0	0	20	2	-5.394511	1	1	121348	1	26	1	2	2	4	2.105371	1	0.140000	1.990000	0.185606	0.990000	0.550000	1.000000	1.000000	0.943035	0.990000	1	0.850000	1.000000
KRT40	125115	broad.mit.edu	37	17	39137358	39137358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:39137358C>A	ENST00000398486.2	-	6	893	c.733G>T	c.(733-735)Gag>Tag	p.E245*	KRT40_ENST00000377755.4_Nonsense_Mutation_p.E245*	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40			9		Breast(137;0.00043)			GTGTCCAGCTCCACACTGAGG	0.522000																								0							SO:0001587	stop_gained			ENST00000398486.2	0	1	hg19	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	36	5.889692	0.97068	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	.	.	.	5.4	5.4	0.78164	.	0.000000	0.34156	N	0.004215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.1854	0.65603	0.0:0.8505:0.1495:0.0	.	.	.	.	X	245	.	ENSP00000366984:E245X	E	-	1	0	KRT40	36390884	0.999000	0.42202	1.000000	0.80357	0.908000	0.53690	3.920000	0.56446	2.688000	0.91661	0.655000	0.94253	GAG		TCGA-IB-7645-01A-22D-2201-08	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	1	0	1	69	596	0	161		0	0	0	0	161	2		0	0	0	0	0	2	1	1.000000	69	588	0	159	2		0	0	0	0	161	2	-19.966000	1	1	0	0		1	1	2	3	2.067548	0	0.140000	1.990000	0.157689	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	0.990000	1.000000
GHDC	84514	broad.mit.edu	37	17	40341794	40341794	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:40341794A>G	ENST00000301671.8	-	9	1961	c.1520T>C	c.(1519-1521)tTc>tCc	p.F507S	GHDC_ENST00000587427.1_Missense_Mutation_p.F507S|GHDC_ENST00000593209.1_Intron|GHDC_ENST00000414034.3_3'UTR|GHDC_ENST00000428494.2_Missense_Mutation_p.F468S			Q8N2G8	GHDC_HUMAN	GH3 domain containing			13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)			CGCAGGGGGGAAGGGGGAGGA	0.716000																								0							SO:0001583	missense			ENST00000301671.8	0	1	hg19	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	A	0.719	-0.784245	0.02907	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000301671	.	.	.	4.76	-1.19	0.09585	.	0.485347	0.21148	N	0.079375	T	0.18800	0.0451	L	0.36672	1.1	0.24617	N	0.993693	B;B	0.18610	0.029;0.026	B;B	0.19391	0.023;0.025	T	0.13124	-1.0521	9	0.21540	T	0.41	-0.9573	0.3415	0.00334	0.3859:0.2118:0.159:0.2434	.	468;507	E9PDB5;Q8N2G8	.;GHDC_HUMAN	S	451;468;507	.	ENSP00000301671:F507S	F	-	2	0	GHDC	37595320	0.344000	0.24827	0.053000	0.19242	0.068000	0.16541	0.663000	0.25053	-0.432000	0.07297	0.454000	0.30748	TTC		TCGA-IB-7645-01A-22D-2201-08	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	1	0	0	3	52	0	8	0	2.595335e-01	0	14	0	8	2		0	0	0	0	0	2	1	0.794392	3	49	0	8	2		0	0	0	0	8	2	-7.298126	1	1	0	0		1	1	2	3	2.067548	0	0.140000	1.990000	0.157689	0.990000	0.270000	1.000000	1.000000	0.828199	0.990000	1	0.540000	1.000000
ITGB4	3691	broad.mit.edu	37	17	73728266	73728266	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:73728266G>T	ENST00000200181.3	+	12	1587	c.1400G>T	c.(1399-1401)cGc>cTc	p.R467L	ITGB4_ENST00000579662.1_Missense_Mutation_p.R467L|ITGB4_ENST00000339591.3_Missense_Mutation_p.R467L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R467L|ITGB4_ENST00000449880.2_Missense_Mutation_p.R467L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4			43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		CGGTCAGCTCGCTGCAGCTTC	0.637000																								0							SO:0001583	missense			ENST00000200181.3	1	1	hg19	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	9.585	1.124722	0.20959	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.74737	-0.87;-0.81;-0.81	5.16	-6.43	0.01926	.	0.616465	0.14523	N	0.314320	T	0.43122	0.1233	N	0.11927	0.2	0.20196	N	0.999928	B;B;B;B;P	0.42735	0.015;0.109;0.432;0.306;0.788	B;B;B;B;B	0.37692	0.007;0.047;0.256;0.131;0.198	T	0.47018	-0.9149	10	0.49607	T	0.09	.	1.7767	0.03023	0.3493:0.0822:0.3089:0.2596	.	427;467;467;467;467	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	L	383;467;467;467	ENSP00000200181:R467L;ENSP00000344079:R467L;ENSP00000400217:R467L	ENSP00000200181:R467L	R	+	2	0	ITGB4	71239861	0.000000	0.05858	0.132000	0.22025	0.612000	0.37316	-0.551000	0.06027	-1.057000	0.03201	-0.136000	0.14681	CGC		TCGA-IB-7645-01A-22D-2201-08	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	0	0	1	11	413	0	84	1	9.978833e-01	78	326	0	84	2		0	0	0	0	0	2	1	0.998222	12	405	0	84	2		0	0	0	0	84	2	-3.222717	1	1	0	0		1	1	2	3	2.067548	0	0.140000	1.990000	0.157689	0.420000	0.210000	1.000000	0.370000	0.525808	0.420000	0	0.300000	1.000000
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552000		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	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	GRCh37	CM941329	TP53	M		SO:0001587	stop_gained	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	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		TCGA-IB-7645-01A-22D-2201-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	21	235	0	49	0	9.385822e-01	1	54	0	49	2	1	1	111	1448	0	1283	2	1	0.999998	21	232	0	49	2		0	0	0	0	49	2	-2.806911	1	1	121412	1	40	1	0	1	1	1.888955	1	0.140000	1.990000	0.075269	0.880000	0.620000	1.000000	0.990000	0.868627	0.880000	1	0.750000	0.970000
ADCYAP1	116	broad.mit.edu	37	18	909532	909532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:909532C>T	ENST00000579794.1	+	4	705	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	ADCYAP1_ENST00000450565.3_Missense_Mutation_p.R143C|RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.3_ENST00000582554.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)			12					CAGCTACAGCCGCTACCGGAA	0.577000																								0							SO:0001583	missense			ENST00000579794.1	1	1	hg19	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334375	0.95758	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	5.17	5.17	0.71159	Glucagon/GIP/secretin/VIP (4);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88814	0.3294	9	0.87932	D	0	.	18.6597	0.91468	0.0:1.0:0.0:0.0	.	143	P18509	PACA_HUMAN	C	282;143;143	.	ENSP00000269200:R143C	R	+	1	0	ADCYAP1	899532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.011000	0.70760	2.391000	0.81399	0.650000	0.86243	CGC		TCGA-IB-7645-01A-22D-2201-08	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	0	0	0	26	722	0	184	0	5.863339e-02	0	11	0	184	2		0	0	0	0	0	2	1	1.000000	27	710	0	181	2		0	0	0	0	184	2	-2.764386	1	1	0	0		1	0	1	1	1.999386	0	0.140000	1.990000	0.135765	0.490000	0.330000	0.690000	0.490000	0.507415	0.490000	0	0.400000	0.600000
DNMT1	1786	broad.mit.edu	37	19	10283847	10283847	+	Silent	SNP	A	A	C	rs61758429		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:10283847A>C	ENST00000340748.4	-	8	874	c.639T>G	c.(637-639)gtT>gtG	p.V213V	DNMT1_ENST00000359526.4_Silent_p.V229V|DNMT1_ENST00000540357.1_Silent_p.V213V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1			70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GCGGTCTAGCAACTCTGTCAA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000340748.4	0	1	hg19	CCDS12228.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	0	0	0	5	243	0	70	0	4.151969e-01	0	61	0	70	2		0	0	0	0	0	2	1	0.936836	5	241	0	70	2		0	0	0	0	70	2	-6.874494	1	0	121412	4	38	1	0	0	0	1.946505	0	0.140000	1.990000	0.111387	0.290000	0.110000	0.590000	0.280000	0.321178	0.290000	0	0.190000	0.440000
MYO9B	4650	broad.mit.edu	37	19	17322900	17322900	+	Silent	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:17322900G>A	ENST00000594824.1	+	40	6402	c.6255G>A	c.(6253-6255)ccG>ccA	p.P2085P	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB			39					GCTGGGCACCGGGTGCCCGGG	0.716000																								0							SO:0001819	synonymous_variant			ENST00000594824.1	0	1	hg19																																																																																					TCGA-IB-7645-01A-22D-2201-08	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1	0	0	0	3	46	0	15	0	0	0	1	0	15	2		0	0	0	0	0	2	1	0.799167	3	44	0	14	2		0	0	0	0	15	2	-7.396224	1	1	116348	14	36	1	0	0	0	1.946505	0	0.140000	1.990000	0.111387	0.810000	0.250000	1.000000	1.000000	0.769595	0.810000	0	0.480000	1.000000
GATAD2A	54815	broad.mit.edu	37	19	19609403	19609403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:19609403C>A	ENST00000360315.3	+	8	1388	c.1076C>A	c.(1075-1077)aCg>aAg	p.T359K	GATAD2A_ENST00000404158.1_Missense_Mutation_p.T359K|GATAD2A_ENST00000358713.3_Missense_Mutation_p.T359K|GATAD2A_ENST00000429563.2_Missense_Mutation_p.T186K|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000252577.5_Missense_Mutation_p.T359K	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A			13					CTGGAGAAGACGCTACTCGAG	0.647000																								0							SO:0001583	missense			ENST00000360315.3	0	1	hg19	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	C	31	5.086125	0.94100	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.54279	1.11;1.04;1.11;0.58	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.74290	-0.3713	9	.	.	.	-12.7933	18.3542	0.90351	0.0:1.0:0.0:0.0	.	186;378;359	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	K	359;359;378;359;186	ENSP00000353463:T359K;ENSP00000252577:T359K;ENSP00000351552:T359K;ENSP00000388416:T186K	.	T	+	2	0	GATAD2A	19470403	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	7.796000	0.85898	2.691000	0.91804	0.650000	0.86243	ACG		TCGA-IB-7645-01A-22D-2201-08	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	0	0	0	6	188	0	48	1	8.312715e-01	6	98	0	48	2		0	0	0	0	0	2	1	0.948959	5	165	0	47	2		0	0	0	0	48	2	-7.980274	1	1	0	0		1	0	0	0	1.946505	0	0.140000	1.990000	0.111387	0.440000	0.180000	0.830000	0.410000	0.472941	0.440000	0	0.290000	0.640000
ZNF93	81931	broad.mit.edu	37	19	20044700	20044700	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:20044700C>T	ENST00000343769.5	+	4	964	c.936C>T	c.(934-936)ccC>ccT	p.P312P	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93			24					GAGAGAAGCCCTACGTTTGTG	0.368000																								0							SO:0001819	synonymous_variant			ENST00000343769.5	0	1	hg19	CCDS32973.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	0	0	0	6	265	0	43	0	1.028871e-02	0	6	0	43	2		0	0	0	0	0	2	1	0.963392	6	260	0	42	2		0	0	0	0	43	2	-7.055372	1	1	0	0		1	0	0	0	1.946505	0	0.140000	1.990000	0.111387	0.320000	0.130000	0.610000	0.290000	0.344100	0.320000	0	0.210000	0.460000
GRIK5	2901	broad.mit.edu	37	19	42563599	42563599	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:42563599G>A	ENST00000262895.3	-	5	588	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	GRIK5_ENST00000301218.4_Missense_Mutation_p.R197W|GRIK5_ENST00000593562.1_Missense_Mutation_p.R197W	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5			35		Prostate(69;0.059)			GTGGGGTCCCGGCTGTCGTCC	0.602000																								0							SO:0001583	missense			ENST00000262895.3	1	1	hg19	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894921	0.52121	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.83163	-1.69;-1.69	4.64	4.64	0.57946	Extracellular ligand-binding receptor (1);	0.635417	0.15154	N	0.277543	T	0.71005	0.3289	N	0.16478	0.41	0.40112	D	0.976504	B	0.18166	0.026	B	0.15052	0.012	T	0.69143	-0.5223	10	0.59425	D	0.04	.	10.6544	0.45667	0.0:0.0:0.6912:0.3088	.	197	Q16478	GRIK5_HUMAN	W	197	ENSP00000262895:R197W;ENSP00000301218:R197W	ENSP00000262895:R197W	R	-	1	2	GRIK5	47255439	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.442000	0.52900	2.289000	0.77006	0.561000	0.74099	CGG		TCGA-IB-7645-01A-22D-2201-08	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1	1	0	0	34	451	0	98	0	1.858812e-01	0	11	0	98	2		0	0	0	0	0	2	1	1.000000	35	445	0	98	2		0	0	0	0	98	2	-3.221879	1	1	121412	2	36	1	1	2	3	2.093694	0	0.140000	1.990000	0.165697	0.990000	0.740000	1.000000	1.000000	0.965084	0.990000	1	0.900000	1.000000
NLRP5	126206	broad.mit.edu	37	19	56538511	56538511	+	Silent	SNP	G	G	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:56538511G>T	ENST00000390649.3	+	7	912	c.912G>T	c.(910-912)gcG>gcT	p.A304A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5			25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)			TGTGCTGGGCGCAAGGTGGAC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000390649.3	0	1	hg19	CCDS12938.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	1	0	0	5	60	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	0.940103	5	60	0	22	2		0	0	0	0	22	2	-9.747625	1	1	121032	1	30	1	2	2	4	2.109478	1	0.140000	1.990000	0.187760	0.990000	0.510000	1.000000	1.000000	0.941516	0.990000	1	0.850000	1.000000
KPRP	448834	broad.mit.edu	37	1	152732688	152732688	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:152732688C>T	ENST00000606109.1	+	1	652	c.624C>T	c.(622-624)ttC>ttT	p.F208F	KPRP_ENST00000368773.1_Silent_p.F208F			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein			60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		CCCCCCAGTTCCAGTTGAGGC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000606109.1	1	1	hg19	CCDS30862.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	0	0	0	57	840	0	208		0	0	0	0	208	2		0	0	0	0	0	2	1	1.000000	54	826	0	205	2		0	0	0	0	208	2	-9.648430	1	1	0	0		1	1	2	3	2.179986	1	0.140000	1.990000	0.196262	0.970000	0.740000	1.000000	1.000000	0.940170	0.970000	1	0.850000	1.000000
CROCC	9696	broad.mit.edu	37	1	17250968	17250968	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:17250968C>T	ENST00000375541.5	+	3	414	c.345C>T	c.(343-345)agC>agT	p.S115S	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin			62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)			ATGCGGTCAGCGAGAGGGTGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000375541.5	1	1	hg19	CCDS30616.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	1	0	0	6	134	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	0.965253	6	133	0	31	2		0	0	0	0	31	2	-4.195441	1	1	121368	20	38	1	1	2	3	2.008615	0	0.140000	1.990000	0.145384	0.670000	0.270000	1.000000	1.000000	0.686562	0.670000	0	0.440000	1.000000
MYOG	4656	broad.mit.edu	37	1	203054999	203054999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:203054999C>T	ENST00000241651.4	-	1	165	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	p.E31K(1)		12					CCTGGTGGTTCGAAGCCCTGG	0.637000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000241651.4	1	1	hg19	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	c	26.8	4.774527	0.90108	.	.	ENSG00000122180	ENST00000241651	T	0.80214	-1.35	5.68	5.68	0.88126	Myogenic basic muscle-specific protein (2);	0.401828	0.27654	N	0.018407	T	0.78672	0.4320	M	0.74258	2.255	0.58432	D	0.999994	B	0.33612	0.419	B	0.27170	0.077	T	0.79926	-0.1597	10	0.66056	D	0.02	.	13.0541	0.58969	0.0:0.9267:0.0:0.0733	.	31	P15173	MYOG_HUMAN	K	31	ENSP00000241651:E31K	ENSP00000241651:E31K	E	-	1	0	MYOG	201321622	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	5.539000	0.67199	2.679000	0.91253	0.558000	0.71614	GAA		TCGA-IB-7645-01A-22D-2201-08	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	0	0	0	8	289	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	0.988403	8	281	0	69	2		0	0	0	0	70	2	-3.587750	1	1	121412	5	37	1	1	2	3	2.183099	1	0.140000	1.990000	0.196262	0.430000	0.200000	0.760000	0.400000	0.453646	0.430000	0	0.300000	0.590000
CR1	1378	broad.mit.edu	37	1	207669664	207669664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:207669664G>A	ENST00000367049.4	+	1	52	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	CR1_ENST00000367051.1_Missense_Mutation_p.G18S|CR1_ENST00000367052.1_Missense_Mutation_p.G18S|CR1_ENST00000367053.1_Missense_Mutation_p.G18S|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.G18S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)			82					GCCGGCGCCCGGTCTCCCCTT	0.662000																								0							SO:0001583	missense			ENST00000367049.4	1	1	hg19	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	4.819	0.152215	0.09185	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.30448	1.55;1.68;1.55;1.55;1.71;1.53	3.35	-6.11	0.02131	.	.	.	.	.	T	0.10723	0.0262	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.34725	-0.9817	9	0.10902	T	0.67	.	6.0568	0.19816	0.0:0.1689:0.4:0.4311	.	18;18;18;18	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	S	18	ENSP00000356019:G18S;ENSP00000356018:G18S;ENSP00000356020:G18S;ENSP00000383744:G18S;ENSP00000436139:G18S;ENSP00000356016:G18S	ENSP00000356016:G18S	G	+	1	0	CR1	205736287	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.223000	0.01214	-1.493000	0.01835	-0.203000	0.12734	GGT		TCGA-IB-7645-01A-22D-2201-08	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	1	0	0	11	148	0	51	0	0	0	1	0	51	2		0	0	0	0	0	2	1	0.997955	11	139	0	47	2		0	0	0	0	51	2	-15.055510	1	1	0	0		1	1	2	3	2.183099	1	0.140000	1.990000	0.196262	0.990000	0.580000	1.000000	1.000000	0.929065	0.990000	1	0.800000	1.000000
LAMB3	3914	broad.mit.edu	37	1	209799234	209799234	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:209799234C>T	ENST00000356082.4	-	14	1869	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	LAMB3_ENST00000391911.1_Missense_Mutation_p.V579M|LAMB3_ENST00000367030.3_Missense_Mutation_p.V579M|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3			45					TGGCAGGCCACGCACACCGGG	0.667000																								0							SO:0001583	missense			ENST00000356082.4	1	1	hg19	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988775	0.35131	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.55588	0.51;0.51;0.51	5.24	3.17	0.36434	EGF-like, laminin (2);	0.654291	0.16212	N	0.224446	T	0.57080	0.2029	L	0.38953	1.18	0.22479	N	0.999064	D	0.89917	1.0	D	0.66602	0.945	T	0.41520	-0.9504	10	0.46703	T	0.11	.	8.3866	0.32503	0.0:0.6207:0.2998:0.0795	.	579	Q13751	LAMB3_HUMAN	M	579	ENSP00000375778:V579M;ENSP00000348384:V579M;ENSP00000355997:V579M	ENSP00000348384:V579M	V	-	1	0	LAMB3	207865857	0.030000	0.19436	0.901000	0.35422	0.169000	0.22640	0.404000	0.20999	1.160000	0.42584	0.456000	0.33151	GTG		TCGA-IB-7645-01A-22D-2201-08	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	1	0	1	7	131	0	38	1	9.953411e-01	51	145	0	38	2		0	0	0	0	0	2	1	0.980483	7	130	0	38	2		0	0	0	0	38	2	-10.628510	1	1	121386	1	25	1	1	2	3	2.183099	1	0.140000	1.990000	0.196262	0.800000	0.360000	1.000000	1.000000	0.788214	0.800000	0	0.550000	1.000000
OR2T10	127069	broad.mit.edu	37	1	248756293	248756293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:248756293G>C	ENST00000330500.2	-	1	807	c.777C>G	c.(775-777)taC>taG	p.Y259*	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10			26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)		TGGGGAGCATGTAGTTGTAAA	0.438000																								0							SO:0001587	stop_gained			ENST00000330500.2	0	1	hg19	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	8.049	0.765657	0.15983	.	.	ENSG00000184022	ENST00000330500	.	.	.	2.35	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.48830	D	0.999716	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6709	0.12689	0.4638:0.0:0.5362:0.0	.	.	.	.	X	259	.	ENSP00000329210:Y259X	Y	-	3	2	OR2T10	246822916	0.000000	0.05858	0.755000	0.31263	0.104000	0.19210	-0.746000	0.04829	0.183000	0.20059	-0.409000	0.06214	TAC		TCGA-IB-7645-01A-22D-2201-08	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	1	0	0	24	262	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1.000000	24	260	0	45	2		0	0	0	0	45	2	-20.000000	1	1	0	0		1	1	2	3	2.183099	1	0.140000	1.990000	0.196262	0.990000	0.850000	1.000000	1.000000	0.990400	0.990000	1	0.990000	1.000000
DLGAP3	58512	broad.mit.edu	37	1	35370343	35370343	+	Silent	SNP	C	C	T	rs142633506		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:35370343C>T	ENST00000373347.1	-	3	910	c.642G>A	c.(640-642)ccG>ccA	p.P214P	DLGAP3_ENST00000235180.4_Silent_p.P214P|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3			46		Myeloproliferative disorder(586;0.0393)			CTCCAGAGCCCGGGCCGGGGT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000373347.1	1	1	hg19	CCDS30670.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	1	0	0	24	301	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1.000000	24	296	0	63	2		0	0	0	0	64	2	-2.966613	1	1	121412	18	44	1	1	2	3	2.008615	0	0.140000	1.990000	0.145384	0.990000	0.710000	1.000000	1.000000	0.956571	0.990000	1	0.870000	1.000000
BMP8A	353500	broad.mit.edu	37	1	39988771	39988771	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:39988771C>T	ENST00000331593.5	+	6	1387	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a			5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CCACCAACCACGCCATCCTGC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000331593.5	1	1	hg19	CCDS437.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	0	0	0	26	786	0	205	0	6.358229e-01	0	66	0	205	2		0	0	0	0	0	2	1	1.000000	25	768	0	201	2		0	0	0	0	205	2	-3.633741	1	1	121412	6	42	1	1	2	3	2.008615	0	0.140000	1.990000	0.145384	0.470000	0.310000	1.000000	0.460000	0.511683	0.470000	0	0.380000	0.600000
SLC44A5	204962	broad.mit.edu	37	1	75685021	75685021	+	Missense_Mutation	SNP	G	G	A	rs148437935	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:75685021G>A	ENST00000370855.5	-	16	1300	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	SLC44A5_ENST00000535611.1_Missense_Mutation_p.A266V|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A396V	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	p.A396V(1)		61					CCCCGATGTCGCCAAGAAACT	0.393000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000370855.5	1	1	hg19	CCDS667.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.18	3.778685	0.70107	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.22945	1.93;1.93;1.93	5.04	5.04	0.67666	.	0.216170	0.47852	D	0.000216	T	0.40398	0.1115	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D	0.65815	0.99;0.991;0.99;0.995;0.988	P;P;P;P;P	0.57324	0.818;0.745;0.818;0.807;0.629	T	0.24941	-1.0146	10	0.27082	T	0.32	-12.0802	18.7654	0.91869	0.0:0.0:1.0:0.0	.	390;435;396;396;435	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	V	396;435;396;266;389	ENSP00000359896:A396V;ENSP00000359892:A396V;ENSP00000443090:A266V	ENSP00000359892:A396V	A	-	2	0	SLC44A5	75457609	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	7.142000	0.77339	2.504000	0.84457	0.655000	0.94253	GCG		TCGA-IB-7645-01A-22D-2201-08	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	0	0	0	12	306	0	89	1	1.612779e-02	3	2	0	89	2		0	0	0	0	0	2	1	0.999128	12	304	0	88	2		0	0	0	0	89	2	-3.026999	1	1	121392	10	41	1	1	2	3	2.008615	0	0.140000	1.990000	0.145384	0.570000	0.300000	1.000000	0.520000	0.603655	0.570000	0	0.420000	0.790000
ACOT8	10005	broad.mit.edu	37	20	44470483	44470483	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr20:44470483C>A	ENST00000217455.4	-	6	1044	c.954G>T	c.(952-954)aaG>aaT	p.K318N	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8			10		Myeloproliferative disorder(115;0.0122)			CTGGCTACAGCTTGCTCTCTG	0.597000																								0							SO:0001583	missense			ENST00000217455.4	0	1	hg19	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.55|14.55	2.567729|2.567729	0.45798|0.45798	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000217455|ENST00000487205	.|.	.|.	.|.	5.02|5.02	3.08|3.08	0.35506|0.35506	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69975|0.69975	0.3171|0.3171	M|M	0.75085|0.75085	2.285|2.285	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.52577|.	0.954|.	P|.	0.47981|.	0.563|.	T|T	0.67941|0.67941	-0.5540|-0.5540	9|5	0.87932|.	D|.	0|.	.|.	10.304|10.304	0.43670|0.43670	0.0:0.7778:0.0:0.2222|0.0:0.7778:0.0:0.2222	.|.	318|.	O14734|.	ACOT8_HUMAN|.	N|I	318|208	.|.	ENSP00000217455:K318N|.	K|S	-|-	3|2	2|0	ACOT8|ACOT8	43903890|43903890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.245000|0.245000	0.25701|0.25701	1.271000|1.271000	0.33098|0.33098	0.694000|0.694000	0.31654|0.31654	0.561000|0.561000	0.74099|0.74099	AAG|AGC		TCGA-IB-7645-01A-22D-2201-08	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	0	0	0	3	63	0	22	0	8.346854e-01	0	71	0	22	2		0	0	0	0	0	2	1	0.797565	2	61	0	22	2		0	0	0	0	22	2	-7.172712	1	0	0	0		1	1	2	3	2.030310	0	0.140000	1.990000	0.150114	0.790000	0.220000	1.000000	1.000000	0.746488	0.790000	0	0.440000	1.000000
UBASH3A	53347	broad.mit.edu	37	21	43838614	43838614	+	Silent	SNP	C	C	T	rs147873921		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr21:43838614C>T	ENST00000319294.6	+	7	973	c.942C>T	c.(940-942)agC>agT	p.S314S	RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000398367.1_Silent_p.S276S|UBASH3A_ENST00000291535.6_Silent_p.S276S	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	p.S314R(1)		28					ACGAAGCCAGCGAGGGCTGGG	0.592000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000319294.6	1	1	hg19	CCDS13687.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	1	0	0	17	313	0	99	0	1.761426e-01	0	14	0	99	2		0	0	0	0	0	2	1	0.999961	17	305	0	97	2		0	0	0	0	99	2	-18.525560	1	1	121412	4	40	1	0	0	0	1.955375	0	0.140000	1.990000	0.115226	0.710000	0.430000	1.000000	1.000000	0.729180	0.710000	0	0.560000	0.890000
THSD7B	80731	broad.mit.edu	37	2	138030171	138030171	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:138030171T>A	ENST00000409968.1	+	11	2513	c.2335T>A	c.(2335-2337)Tgc>Agc	p.C779S	THSD7B_ENST00000272643.3_Missense_Mutation_p.C779S|THSD7B_ENST00000413152.2_Missense_Mutation_p.C748S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B			134					AGGCCAGGAATGCCCAGATAC	0.393000																								0							SO:0001583	missense			ENST00000409968.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	26.9	4.780563	0.90195	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.25579	1.79;1.79;1.79	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.964	T	0.67696	-0.5604	10	0.51188	T	0.08	.	14.9927	0.71401	0.0:0.0:0.0:1.0	.	779;748	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	779;779;748	ENSP00000387145:C779S;ENSP00000272643:C779S;ENSP00000413841:C748S	ENSP00000272643:C779S	C	+	1	0	THSD7B	137746641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.047000	0.76599	2.171000	0.68590	0.533000	0.62120	TGC		TCGA-IB-7645-01A-22D-2201-08	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	0	0	0	5	111	0	22	0	1.113720e-01	0	11	0	22	2		0	0	0	0	0	2	1	0.938939	5	111	0	22	2		0	0	0	0	22	2	-8.835941	1	1	0	0		1	0	0	0	1.963329	0	0.140000	1.990000	0.119033	0.620000	0.240000	1.000000	1.000000	0.645698	0.620000	0	0.400000	0.910000
LRP2	4036	broad.mit.edu	37	2	170177381	170177381	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:170177381C>T	ENST00000263816.3	-	2	378	c.93G>A	c.(91-93)gcG>gcA	p.A31A	LRP2_ENST00000443831.1_Silent_p.A31A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	p.A31A(1)		315				"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGCGAAAATGCGCACTGTCAC	0.388000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000263816.3	1	1	hg19	CCDS2232.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	1	0	0	17	350	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	0.999965	17	346	0	71	2		0	0	0	0	73	2	-4.253675	1	1	121412	3	39	1	0	0	0	1.963329	0	0.140000	1.990000	0.119033	0.640000	0.390000	0.970000	0.640000	0.664811	0.640000	0	0.500000	0.810000
APOB	338	broad.mit.edu	37	2	21233909	21233909	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:21233909T>C	ENST00000233242.1	-	26	5958	c.5831A>G	c.(5830-5832)cAt>cGt	p.H1944R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TTTGTAATCATGAGAGAAAGT	0.468000																								0							SO:0001583	missense			ENST00000233242.1	1	1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.130700	0.37630	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.03094	4.05	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000016	T	0.18130	0.0435	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.00239	-1.1888	10	0.62326	D	0.03	.	15.5233	0.75881	0.0:0.0:0.0:1.0	.	1944	P04114	APOB_HUMAN	R	1944	ENSP00000233242:H1944R	ENSP00000233242:H1944R	H	-	2	0	APOB	21087414	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.315000	0.51951	2.065000	0.61736	0.454000	0.30748	CAT		TCGA-IB-7645-01A-22D-2201-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	0	0	0	32	769	0	186		0	0	0	0	186	2		0	0	0	0	0	2	1	1.000000	32	762	0	184	2		0	0	0	0	186	2	-4.661664	1	1	0	0		1	0	0	0	1.956022	0	0.140000	1.990000	0.116499	0.550000	0.380000	0.750000	0.550000	0.566061	0.550000	0	0.460000	0.660000
FN1	2335	broad.mit.edu	37	2	216271856	216271856	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:216271856G>A	ENST00000359671.1	-	18	2972	c.2707C>T	c.(2707-2709)Cgc>Tgc	p.R903C	FN1_ENST00000357867.4_Missense_Mutation_p.R903C|FN1_ENST00000345488.5_Missense_Mutation_p.R903C|FN1_ENST00000336916.4_Missense_Mutation_p.R903C|FN1_ENST00000432072.2_Missense_Mutation_p.R903C|FN1_ENST00000446046.1_Missense_Mutation_p.R903C|FN1_ENST00000357009.2_Missense_Mutation_p.R903C|FN1_ENST00000346544.3_Missense_Mutation_p.R903C|FN1_ENST00000356005.4_Missense_Mutation_p.R903C|FN1_ENST00000323926.6_Missense_Mutation_p.R903C|FN1_ENST00000421182.1_Missense_Mutation_p.R903C|FN1_ENST00000443816.1_Missense_Mutation_p.R903C|FN1_ENST00000354785.4_Missense_Mutation_p.R903C			P02751	FINC_HUMAN	fibronectin 1		FN1/ALK(2)	109		Renal(323;0.127)		Ocriplasmin(DB08888)	TTACCTGAGCGTGGGGTGCCA	0.408000																								0							SO:0001583	missense			ENST00000359671.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.57	1.676889	0.29783	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	0.79;2.17;2.35;0.88;2.42;2.06;2.39;2.05;2.35;2.09;1.56;0.87;1.46	5.47	4.59	0.56863	.	0.100271	0.45361	D	0.000372	T	0.61009	0.2313	L	0.47716	1.5	0.09310	N	0.999992	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0;0.987;1.0;1.0;0.976;0.996	P;P;D;D;P;P;D;D;P;P	0.70487	0.888;0.886;0.962;0.969;0.899;0.781;0.915;0.969;0.814;0.814	T	0.56920	-0.7899	10	0.87932	D	0	.	14.258	0.66065	0.0:0.0:0.7303:0.2697	.	903;903;903;903;903;903;903;903;903;903	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	C	903	ENSP00000394423:R903C;ENSP00000323534:R903C;ENSP00000338200:R903C;ENSP00000350534:R903C;ENSP00000346839:R903C;ENSP00000352696:R903C;ENSP00000265312:R903C;ENSP00000273049:R903C;ENSP00000349509:R903C;ENSP00000410422:R903C;ENSP00000415018:R903C;ENSP00000399538:R903C;ENSP00000348285:R903C	ENSP00000265313:R903C	R	-	1	0	FN1	215980101	0.331000	0.24713	0.660000	0.29694	0.056000	0.15407	2.273000	0.43381	1.272000	0.44329	0.655000	0.94253	CGC		TCGA-IB-7645-01A-22D-2201-08	FN1-204	KNOWN	basic	protein_coding	protein_coding		1	0	0	17	414	0	96	0	1	0	2342	0	96	2		0	0	0	0	0	2	1	0.999963	17	408	0	95	2		0	0	0	0	96	2	-4.058689	1	1	0	0		1	0	0	0	1.976401	0	0.140000	1.990000	0.125305	0.550000	0.330000	0.840000	0.550000	0.574281	0.550000	0	0.430000	0.700000
CCDC108	255101	broad.mit.edu	37	2	219890812	219890812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:219890812C>T	ENST00000341552.5	-	14	2364	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T	CCDC108_ENST00000441968.1_Missense_Mutation_p.A761T|CCDC108_ENST00000453220.1_Missense_Mutation_p.A761T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108			80		Renal(207;0.0915)			TGGCCTCGTGCCCGCACCGTC	0.597000																								0							SO:0001583	missense			ENST00000341552.5	1	1	hg19	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	7.441	0.640609	0.14386	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05580	3.42;3.42;3.42	4.87	3.09	0.35607	.	0.461082	0.18270	N	0.146344	T	0.04363	0.0120	L	0.38838	1.175	0.09310	N	1	B	0.28512	0.214	B	0.24701	0.055	T	0.42275	-0.9461	10	0.15952	T	0.53	-1.4645	3.8598	0.08991	0.1251:0.5849:0.1362:0.1538	.	761	Q6ZU64	CC108_HUMAN	T	761	ENSP00000340776:A761T;ENSP00000413377:A761T;ENSP00000409117:A761T	ENSP00000340776:A761T	A	-	1	0	CCDC108	219599056	0.004000	0.15560	0.001000	0.08648	0.273000	0.26683	1.552000	0.36244	0.671000	0.31185	-0.224000	0.12420	GCA		TCGA-IB-7645-01A-22D-2201-08	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	0	0	0	11	263	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	0.998361	10	262	0	70	2		0	0	0	0	70	2	-4.037210	1	1	0	0		1	0	0	0	1.976401	0	0.140000	1.990000	0.125305	0.570000	0.300000	0.930000	0.550000	0.593751	0.570000	0	0.420000	0.750000
REG3A	5068	broad.mit.edu	37	2	79384703	79384703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:79384703C>T	ENST00000409839.3	-	5	491	c.455G>A	c.(454-456)aGc>aAc	p.S152N	REG3A_ENST00000305165.2_Missense_Mutation_p.S152N|REG3A_ENST00000393878.1_Missense_Mutation_p.S152N|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha			50					CTTACCTGTGCTTCTCGACAG	0.512000																								0							SO:0001583	missense			ENST00000409839.3	1	1	hg19	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	3.186	-0.166825	0.06461	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.18810	2.19;2.19;2.19	3.87	-7.73	0.01245	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	1.045080	0.07478	N	0.903419	T	0.11367	0.0277	L	0.38733	1.17	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	10	0.15499	T	0.54	.	4.6128	0.12411	0.0829:0.1018:0.2213:0.594	.	152	Q06141	REG3A_HUMAN	N	152	ENSP00000386630:S152N;ENSP00000377456:S152N;ENSP00000304311:S152N	ENSP00000304311:S152N	S	-	2	0	REG3A	79238211	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.756000	0.00374	-3.453000	0.00160	-1.185000	0.01705	AGC		TCGA-IB-7645-01A-22D-2201-08	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	0	0	0	26	613	0	134	0	6.480576e-01	0	53	0	134	2		0	0	0	0	0	2	1	1.000000	24	578	0	124	2		0	0	0	0	134	2	-4.259523	1	1	0	0		1	0	0	0	1.956022	0	0.140000	1.990000	0.116499	0.560000	0.370000	0.790000	0.560000	0.578771	0.560000	0	0.460000	0.680000
TMEM131	23505	broad.mit.edu	37	2	98430514	98430514	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:98430514G>T	ENST00000186436.5	-	15	1765	c.1537C>A	c.(1537-1539)Cac>Aac	p.H513N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131			57					TTATCAATGTGCATGGATGAT	0.348000																								0							SO:0001583	missense			ENST00000186436.5	0	1	hg19	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615698	0.87359	.	.	ENSG00000075568	ENST00000186436	T	0.29917	1.55	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.51422	1.61	0.80722	D	1	P	0.40578	0.722	B	0.42625	0.393	T	0.04635	-1.0937	10	0.08179	T	0.78	-7.5095	20.0784	0.97758	0.0:0.0:1.0:0.0	.	513	Q92545	TM131_HUMAN	N	513	ENSP00000186436:H513N	ENSP00000186436:H513N	H	-	1	0	TMEM131	97796946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.022000	0.93678	2.736000	0.93811	0.655000	0.94253	CAC		TCGA-IB-7645-01A-22D-2201-08	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	1	6	60	0	16	1	9.183996e-01	12	36	0	16	2		0	0	0	0	0	2	1	0.967376	6	60	0	16	2		0	0	0	0	16	2	-11.504210	1	1	0	0		1	0	0	0	1.963329	0	0.140000	1.990000	0.119033	0.990000	0.520000	1.000000	1.000000	0.926955	0.990000	1	0.790000	1.000000
TMEM131	23505	broad.mit.edu	37	2	98430515	98430515	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:98430515C>A	ENST00000186436.5	-	15	1764	c.1536G>T	c.(1534-1536)atG>atT	p.M512I		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131			57					TATCAATGTGCATGGATGATG	0.348000																								0							SO:0001583	missense			ENST00000186436.5	0	0	hg19	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	5.674	0.308987	0.10733	.	.	ENSG00000075568	ENST00000186436	T	0.28069	1.63	5.81	1.59	0.23543	.	0.265412	0.43919	N	0.000513	T	0.06234	0.0161	N	0.00926	-1.1	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30736	-0.9968	10	0.02654	T	1	-12.6824	1.8007	0.03071	0.2505:0.4248:0.1015:0.2232	.	512	Q92545	TM131_HUMAN	I	512	ENSP00000186436:M512I	ENSP00000186436:M512I	M	-	3	0	TMEM131	97796947	0.940000	0.31905	1.000000	0.80357	0.991000	0.79684	0.035000	0.13797	0.810000	0.34279	-0.126000	0.14955	ATG		TCGA-IB-7645-01A-22D-2201-08	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	1	7	60	0	17	1	9.501763e-01	12	37	0	17	2		0	0	0	0	0	2	1	0.982577	7	60	0	17	2		0	0	0	0	17	2	-6.232596	1	1	0	0		1	0	0	0	1.963329	0	0.140000	1.990000	0.119033	0.990000	0.610000	1.000000	1.000000	0.957335	0.990000	1	0.900000	1.000000
MUC20	200958	broad.mit.edu	37	3	195453211	195453211	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:195453211C>T	ENST00000447234.2	+	2	1863	c.1737C>T	c.(1735-1737)gcC>gcT	p.A579A	MUC20_ENST00000320736.6_Silent_p.A408A|MUC20_ENST00000445522.2_Silent_p.A544A|MUC20_ENST00000436408.1_Silent_p.A579A	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated			23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)		CCTCGGAAGCCGCCCTCAAGA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000447234.2	0	1	hg19																																																																																					TCGA-IB-7645-01A-22D-2201-08	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	0	0	0	10	442	0	104	1	5.530227e-01	5	72	0	104	2		0	0	0	0	0	2	1	0.996809	10	438	0	104	2		0	0	0	0	104	2	-8.872527	1	1	121004	3	31	1	1	3	4	2.491544	1	0.140000	1.990000	0.245614	0.370000	0.180000	0.630000	0.360000	0.391917	0.370000	0	0.270000	0.500000
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:38591931C>G	ENST00000333535.4	-	28	6081	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGACACTGTCATAGGAGGGT	0.602000																								0							SO:0001583	missense			ENST00000333535.4	0	1	hg19	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC		TCGA-IB-7645-01A-22D-2201-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	0	0	7	246	1	45		0	0	0	1	45	2		0	0	0	0	0	2	0	0.014791	6	238	1	44	18		0	0	0	1	45	2	-2.700491	1	1	120936	5	16	1	0	1	1	1.883446	1	0.140000	1.990000	0.082177	0.370000	0.170000	0.680000	0.360000	0.401396	0.370000	0	0.260000	0.530000
PBRM1	55193	broad.mit.edu	37	3	52649473	52649473	+	Splice_Site	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:52649473C>T	ENST00000296302.7	-	15	1820		c.e15-1		PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1			335					CATTATAAACCTACATTCCAA	0.338000			Mis, N, F, S, D, O		clear cell renal carcinoma, breast										Rec	yes		3	3p21	55193	polybromo 1		E	0							SO:0001630	splice_region_variant			ENST00000296302.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.35	2.806869	0.50421	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8084	0.96538	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52624513	1.000000	0.71417	0.998000	0.56505	0.452000	0.32318	7.487000	0.81328	2.687000	0.91594	0.462000	0.41574	.		TCGA-IB-7645-01A-22D-2201-08	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	1	0	0	22	252	0	53	0	0	0	1	0	53	2	1	1	88	873	0	690	2	1	0.999999	22	248	0	53	2		0	0	0	0	53	2	-2.774731	1	1	0	0		1	0	1	1	1.883446	1	0.140000	1.990000	0.082177	0.940000	0.650000	1.000000	1.000000	0.911759	0.940000	1	0.790000	1.000000
NDST3	9348	broad.mit.edu	37	4	119161830	119161830	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:119161830T>C	ENST00000296499.5	+	11	2673	c.2270T>C	c.(2269-2271)gTt>gCt	p.V757A		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3			54					AGATGGCTTGTTTATTTCCCC	0.458000																								0							SO:0001583	missense			ENST00000296499.5	1	1	hg19	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	T	8.239	0.806313	0.16467	.	.	ENSG00000164100	ENST00000296499	T	0.50548	0.74	5.49	2.98	0.34508	Sulfotransferase domain (1);	0.452871	0.23700	N	0.045428	T	0.11067	0.0270	N	0.00595	-1.35	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27673	-1.0067	10	0.09084	T	0.74	.	1.7572	0.02984	0.2575:0.2262:0.0:0.5164	.	757	O95803	NDST3_HUMAN	A	757	ENSP00000296499:V757A	ENSP00000296499:V757A	V	+	2	0	NDST3	119381278	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	2.840000	0.48215	2.212000	0.71576	0.533000	0.62120	GTT		TCGA-IB-7645-01A-22D-2201-08	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	1	0	0	20	269	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	0.999995	21	263	0	55	2		0	0	0	0	58	2	-19.999940	1	1	0	0		1	1	2	3	2.043156	0	0.140000	1.990000	0.152459	0.990000	0.650000	1.000000	1.000000	0.939037	0.990000	1	0.830000	1.000000
TRPC3	7222	broad.mit.edu	37	4	122853995	122853995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:122853995C>T	ENST00000379645.3	-	2	491	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	TRPC3_ENST00000264811.5_Missense_Mutation_p.V67I|TRPC3_ENST00000513531.1_Missense_Mutation_p.V67I	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3			51					ACGCAGTTGACGTTCAGCGTC	0.637000																								0							SO:0001583	missense			ENST00000379645.3	1	1	hg19	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344029	0.61073	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.70631	-0.5;-0.5;-0.5;0.24	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	N	0.11698	0.16	0.48395	D	0.999648	B;P	0.39404	0.322;0.672	B;B	0.41466	0.131;0.358	T	0.55321	-0.8159	10	0.06236	T	0.91	-30.807	20.3932	0.98965	0.0:1.0:0.0:0.0	.	67;140	E9PCJ9;Q5G1L5	.;.	I	67;140;67;67	ENSP00000264811:V67I;ENSP00000368966:V140I;ENSP00000426899:V67I;ENSP00000422214:V67I	ENSP00000264811:V67I	V	-	1	0	TRPC3	123073445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.313000	0.51935	2.824000	0.97209	0.655000	0.94253	GTC		TCGA-IB-7645-01A-22D-2201-08	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	0	0	0	8	279	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	0.988704	8	273	0	75	2		0	0	0	0	75	2	-8.654845	1	1	121410	1	26	1	1	2	3	2.043156	0	0.140000	1.990000	0.152459	0.450000	0.200000	1.000000	0.400000	0.530438	0.450000	0	0.300000	0.940000
KIAA1109	84162	broad.mit.edu	37	4	123168391	123168391	+	Silent	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:123168391G>A	ENST00000264501.4	+	35	5764	c.5391G>A	c.(5389-5391)aaG>aaA	p.K1797K	KIAA1109_ENST00000455637.1_Silent_p.K1797K|KIAA1109_ENST00000388738.3_Silent_p.K1797K			Q2LD37	K1109_HUMAN	KIAA1109	p.K1797N(1)		172					ATGCCACAAAGATGCAGCCTC	0.393000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000264501.4	1	1	hg19	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	9.151	1.016388	0.19355	.	.	ENSG00000138688	ENST00000446180	.	.	.	5.77	3.8	0.43715	.	.	.	.	.	T	0.47930	0.1472	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43245	-0.9403	4	.	.	.	.	4.272	0.10791	0.4492:0.0:0.5508:0.0	.	.	.	.	K	370	.	.	R	+	2	0	KIAA1109	123387841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.004000	0.49513	1.449000	0.47699	0.585000	0.79938	AGA		TCGA-IB-7645-01A-22D-2201-08	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	0	0	0	12	361	0	60	1	1.077092e-01	4	12	0	60	2		0	0	0	0	0	2	1	0.999077	12	356	0	60	2		0	0	0	0	60	2	-12.036700	1	1	0	0		1	1	2	3	2.043156	0	0.140000	1.990000	0.152459	0.510000	0.260000	1.000000	0.460000	0.574547	0.510000	0	0.370000	0.940000
JAKMIP1	152789	broad.mit.edu	37	4	6114531	6114531	+	Missense_Mutation	SNP	G	G	A	rs148302835	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:6114531G>A	ENST00000282924.5	-	2	532	c.47C>T	c.(46-48)aCg>aTg	p.T16M	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.T16M|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T16M|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.T16M|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.T16M	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1			42					CACCGCGTCCGTCTCCATCTC	0.607000																								0							SO:0001583	missense			ENST00000282924.5	1	1	hg19	CCDS3385.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.194	0.034762	0.08101	0.001362	0.0	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.30448	1.94;1.53;1.94;1.94;1.53	3.94	0.904	0.19302	.	0.626666	0.14992	N	0.286656	T	0.10637	0.0260	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B	0.15719	0.014;0.002;0.014;0.014;0.005	B;B;B;B;B	0.09377	0.003;0.002;0.004;0.003;0.004	T	0.27020	-1.0086	10	0.33940	T	0.23	.	7.349	0.26680	0.507:0.0:0.493:0.0	.	16;16;16;16;16	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	M	16	ENSP00000386711:T16M;ENSP00000387042:T16M;ENSP00000282924:T16M;ENSP00000386925:T16M;ENSP00000386745:T16M	ENSP00000282924:T16M	T	-	2	0	JAKMIP1	6165432	0.008000	0.16893	0.117000	0.21633	0.587000	0.36485	1.445000	0.35079	0.316000	0.23135	0.591000	0.81541	ACG		TCGA-IB-7645-01A-22D-2201-08	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	1	0	0	31	329	0	79	0	1.226326e-01	0	7	0	79	2		0	0	0	0	0	2	1	1.000000	31	326	0	78	2		0	0	0	0	79	2	-20.000000	1	1	121412	31	47	1	1	2	3	2.043156	0	0.140000	1.990000	0.152459	0.990000	0.880000	1.000000	1.000000	0.992786	0.990000	1	0.990000	1.000000
C7	730	broad.mit.edu	37	5	40947725	40947725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:40947725G>A	ENST00000313164.9	+	8	1119	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7					Ovarian(839;0.0112)			GCTGGTTGTTGAGAACACTGT	0.408000																								0							SO:0001583	missense			ENST00000313164.9	0	1	hg19	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	0.158	-1.083866	0.01888	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.81821	-1.54	5.9	4.05	0.47172	Membrane attack complex component/perforin (MACPF) domain (3);	0.235442	0.44483	D	0.000452	T	0.50480	0.1618	N	0.01464	-0.85	0.25030	N	0.991275	B	0.10296	0.003	B	0.15052	0.012	T	0.39272	-0.9622	10	0.02654	T	1	-10.741	10.8024	0.46495	0.1164:0.5032:0.3804:0.0	.	254	P10643	CO7_HUMAN	K	254	ENSP00000322061:E254K	ENSP00000322061:E254K	E	+	1	0	C7	40983482	1.000000	0.71417	0.982000	0.44146	0.213000	0.24496	1.445000	0.35079	1.452000	0.47756	-0.219000	0.12488	GAG		TCGA-IB-7645-01A-22D-2201-08	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1	0	0	0	6	144	0	22	0	9.999865e-01	0	821	0	22	2		0	0	0	0	0	2	1	0.964486	6	142	0	22	2		0	0	0	0	22	2	-3.098626	1	1	0	0		1	1	2	3	2.004972	0	0.140000	1.990000	0.144789	0.620000	0.250000	1.000000	1.000000	0.649246	0.620000	0	0.410000	0.940000
KIAA0947	0	broad.mit.edu	37	5	5469027	5469027	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:5469027A>G	ENST00000296564.7	+	15	6370	c.6148A>G	c.(6148-6150)Atg>Gtg	p.M2050V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN				35					TAATAAAGCAATGCAGTTAGT	0.363000																								0							SO:0001583	missense			ENST00000296564.7	1	1	hg19	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.909390	0.52439	.	.	ENSG00000164151	ENST00000296564	T	0.11169	2.8	5.86	5.86	0.93980	.	.	.	.	.	T	0.12220	0.0297	L	0.54323	1.7	0.36006	D	0.837716	P	0.42078	0.77	B	0.38683	0.279	T	0.11397	-1.0589	9	0.66056	D	0.02	-3.4778	9.5036	0.39033	0.8427:0.0:0.0:0.1573	.	2050	Q9Y2F5	K0947_HUMAN	V	2050	ENSP00000296564:M2050V	ENSP00000296564:M2050V	M	+	1	0	KIAA0947	5522027	0.998000	0.40836	0.931000	0.37212	0.985000	0.73830	4.050000	0.57404	2.244000	0.73946	0.528000	0.53228	ATG		TCGA-IB-7645-01A-22D-2201-08	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	1	0	1	19	387	0	68	1	7.996910e-01	13	50	0	68	2		0	0	0	0	0	2	1	0.999991	19	384	0	68	2		0	0	0	0	68	2	-19.666210	1	1	120808	1	34	1	1	2	3	2.004972	0	0.140000	1.990000	0.144789	0.690000	0.420000	1.000000	1.000000	0.711453	0.690000	0	0.540000	0.890000
SVOPL	136306	broad.mit.edu	37	7	138341226	138341226	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:138341226C>T	ENST00000419765.3	-	6	534	c.501G>A	c.(499-501)acG>acA	p.T167T	SVOPL_ENST00000436657.1_Silent_p.T15T|SVOPL_ENST00000288513.5_Silent_p.T15T|SVOPL_ENST00000421622.1_Intron	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like			19					CTCGGTATTTCGTGGGCAAAA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000419765.3	1	1	hg19	CCDS47721.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	1	0	1	71	591	1	136		0	0	0	1	136	2		0	0	0	0	0	2	1	1.000000	70	585	1	135	17		0	0	0	1	136	2	-3.221883	1	1	121412	4	43	1	2	2	4	2.152758	1	0.140000	1.990000	0.203556	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
TRPV6	55503	broad.mit.edu	37	7	142569526	142569526	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:142569526C>A	ENST00000359396.3	-	15	2357	c.2112G>T	c.(2110-2112)agG>agT	p.R704S		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6			42	Melanoma(164;0.059)				GCAGGTCTCTCCTCAGGGTCC	0.577000																								0							SO:0001583	missense			ENST00000359396.3	1	1	hg19	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340406	0.24339	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.76968	-1.06	5.3	1.03	0.20045	.	0.665359	0.16004	N	0.234172	T	0.61286	0.2335	L	0.36672	1.1	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.40831	-0.9542	10	0.18710	T	0.47	-7.6958	4.8576	0.13566	0.142:0.5057:0.2751:0.0771	.	704	Q9H1D0	TRPV6_HUMAN	S	704;536	ENSP00000352358:R704S	ENSP00000310825:R536S	R	-	3	2	TRPV6	142279648	0.000000	0.05858	0.000000	0.03702	0.654000	0.38779	0.010000	0.13242	0.183000	0.20059	0.561000	0.74099	AGG		TCGA-IB-7645-01A-22D-2201-08	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	1	0	0	31	407	0	105	0	2.439050e-01	0	13	0	105	2		0	0	0	0	0	2	1	1.000000	31	402	0	102	2		0	0	0	0	105	2	-2.966612	1	1	0	0		1	2	2	4	2.152758	1	0.140000	1.990000	0.203556	0.990000	0.780000	1.000000	1.000000	0.976903	0.990000	1	0.950000	1.000000
MRPS24	64951	broad.mit.edu	37	7	43909090	43909090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:43909090G>A	ENST00000317534.5	-	1	66	c.5C>T	c.(4-6)gCg>gTg	p.A2V	MRPS24_ENST00000467084.1_Intron|URGCP-MRPS24_ENST00000603700.1_Intron	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24			5					CACGGAGGCCGCCATCTTGGG	0.697000																								0							SO:0001583	missense			ENST00000317534.5	0	1	hg19	CCDS5473.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633037	0.29068	2.36E-4	0.0	ENSG00000062582	ENST00000317534	T	0.46451	0.87	4.7	3.81	0.43845	.	0.564481	0.18229	N	0.147626	T	0.33760	0.0874	L	0.41961	1.31	0.30449	N	0.77543	B	0.15719	0.014	B	0.12156	0.007	T	0.28870	-1.0030	10	0.45353	T	0.12	.	8.895	0.35458	0.106:0.0:0.894:0.0	.	2	Q96EL2	RT24_HUMAN	V	2	ENSP00000318158:A2V	ENSP00000318158:A2V	A	-	2	0	MRPS24	43875615	1.000000	0.71417	0.496000	0.27539	0.158000	0.22134	2.644000	0.46613	0.938000	0.37419	0.655000	0.94253	GCG		TCGA-IB-7645-01A-22D-2201-08	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	0	0	0	3	28	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	0.790858	3	26	0	10	2		0	0	0	0	10	2	-8.279320	1	1	116506	6	33	1	2	2	4	2.152758	1	0.140000	1.990000	0.203556	0.990000	0.520000	1.000000	1.000000	0.958449	0.990000	1	0.990000	1.000000
PKD1L1	168507	broad.mit.edu	37	7	47944116	47944116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:47944116G>A	ENST00000289672.2	-	12	1840	c.1790C>T	c.(1789-1791)aCg>aTg	p.T597M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1		BBS9/PKD1L1(2)	142					GGAGGGGGACGTGAGCCGATT	0.542000																								0							SO:0001583	missense			ENST00000289672.2	1	1	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	3.658	-0.070119	0.07228	.	.	ENSG00000158683	ENST00000289672	T	0.68181	-0.31	4.9	-3.89	0.04193	PKD/Chitinase domain (1);PKD domain (2);	3.200300	0.00966	N	0.003172	T	0.54447	0.1859	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.41413	-0.9510	10	0.32370	T	0.25	0.1517	10.9535	0.47343	0.5301:0.0:0.4699:0.0	.	597	Q8TDX9	PK1L1_HUMAN	M	597	ENSP00000289672:T597M	ENSP00000289672:T597M	T	-	2	0	PKD1L1	47910641	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.434000	0.06939	-0.854000	0.04131	-1.177000	0.01723	ACG		TCGA-IB-7645-01A-22D-2201-08	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	0	0	0	12	318	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	1	0.999059	12	312	0	64	2		0	0	0	0	65	2	-12.570700	1	1	0	0		1	2	2	4	2.152758	1	0.140000	1.990000	0.203556	0.640000	0.320000	1.000000	0.570000	0.691713	0.640000	0	0.450000	1.000000
PKHD1L1	93035	broad.mit.edu	37	8	110457259	110457259	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:110457259C>A	ENST00000378402.5	+	38	5265	c.5161C>A	c.(5161-5163)Ctt>Att	p.L1721I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1			263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		TGCCCAACAGCTTGTGGATGT	0.438000										HNSCC(38;0.096)														0							SO:0001583	missense			ENST00000378402.5	1	1	hg19	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	7.230	0.599079	0.13939	.	.	ENSG00000205038	ENST00000378402	T	0.78003	-1.14	6.17	5.27	0.74061	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.524512	0.19441	N	0.114191	T	0.74816	0.3766	L	0.54323	1.7	0.09310	N	1	P	0.35527	0.507	B	0.40602	0.334	T	0.64647	-0.6358	10	0.22706	T	0.39	.	12.7395	0.57243	0.2809:0.7191:0.0:0.0	.	1721	Q86WI1	PKHL1_HUMAN	I	1721	ENSP00000367655:L1721I	ENSP00000367655:L1721I	L	+	1	0	PKHD1L1	110526435	0.000000	0.05858	0.659000	0.29680	0.463000	0.32649	-0.229000	0.09098	2.941000	0.99782	0.655000	0.94253	CTT		TCGA-IB-7645-01A-22D-2201-08	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	0	0	1	124	884	0	200		0	0	0	0	200	2		0	0	0	0	0	2	1	1.000000	122	876	0	200	2		0	0	0	0	200	2	-20.000000	1	1	0	0		1	1	2	3	2.031294	0	0.140000	1.990000	0.172997	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
GSDMC	56169	broad.mit.edu	37	8	130789715	130789715	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:130789715C>T	ENST00000276708.4	-	2	1000	c.119G>A	c.(118-120)cGa>cAa	p.R40Q		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C			26					CTTCTTCTTTCGTAATATAAC	0.398000																								0							SO:0001583	missense			ENST00000276708.4	1	1	hg19	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190676	0.09547	.	.	ENSG00000147697	ENST00000276708	T	0.23348	1.91	3.9	-0.272	0.12919	.	0.803958	0.10809	N	0.631858	T	0.07954	0.0199	N	0.11255	0.115	0.09310	N	1	P	0.35684	0.515	B	0.22753	0.041	T	0.26643	-1.0097	10	0.12430	T	0.62	.	3.0092	0.06039	0.1923:0.4599:0.0:0.3478	.	40	Q9BYG8	GSDMC_HUMAN	Q	40	ENSP00000276708:R40Q	ENSP00000276708:R40Q	R	-	2	0	GSDMC	130858897	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.989000	0.01480	-0.177000	0.10690	-0.424000	0.05967	CGA		TCGA-IB-7645-01A-22D-2201-08	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1	1	0	0	34	598	0	131	0	3.129735e-03	0	2	0	131	2		0	0	0	0	0	2	1	1.000000	32	590	0	131	2		0	0	0	0	131	2	-6.257532	1	1	121412	4	39	1	1	2	3	2.031294	0	0.140000	1.990000	0.172997	0.850000	0.570000	1.000000	1.000000	0.853224	0.850000	1	0.690000	1.000000
CA8	767	broad.mit.edu	37	8	61139438	61139438	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:61139438C>G	ENST00000317995.4	-	5	834	c.570G>C	c.(568-570)caG>caC	p.Q190H	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII			16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)		Zonisamide(DB00909)	TTACCTTATACTGAATATCTT	0.393000																								0							SO:0001583	missense			ENST00000317995.4	1	1	hg19	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740653	0.49045	.	.	ENSG00000178538	ENST00000317995	T	0.68331	-0.32	5.83	2.55	0.30701	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.171104	0.53938	D	0.000047	T	0.56746	0.2006	M	0.66297	2.02	0.48830	D	0.999712	P	0.37525	0.598	B	0.32022	0.139	T	0.54186	-0.8331	10	0.87932	D	0	.	5.3935	0.16257	0.1324:0.6131:0.0:0.2545	.	190	P35219	CAH8_HUMAN	H	190	ENSP00000314407:Q190H	ENSP00000314407:Q190H	Q	-	3	2	CA8	61301992	0.975000	0.34042	1.000000	0.80357	0.997000	0.91878	0.168000	0.16622	0.195000	0.20347	0.650000	0.86243	CAG		TCGA-IB-7645-01A-22D-2201-08	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1	1	0	0	11	220	0	34	1	1.820623e-01	2	13	0	34	2		0	0	0	0	0	2	1	0.998375	11	218	0	34	2		0	0	0	0	34	2	-13.675850	1	1	0	0		1	1	2	3	2.031294	0	0.140000	1.990000	0.172997	0.810000	0.400000	1.000000	1.000000	0.796770	0.810000	0	0.570000	1.000000
PSKH2	85481	broad.mit.edu	37	8	87060706	87060706	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:87060706C>T	ENST00000276616.2	-	3	1217	c.1143G>A	c.(1141-1143)ctG>ctA	p.L381L		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2			47			STAD - Stomach adenocarcinoma(118;0.129)		AAAGCGCAGACAGTGGCGATT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000276616.2	0	1	hg19	CCDS6240.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	0	0	0	8	506	1	79		0	0	0	1	79	2		0	0	0	0	0	2	0	0.009778	8	498	1	79	21		0	0	0	1	79	2	-6.710205	1	0	0	0		1	1	2	3	2.031294	0	0.140000	1.990000	0.172997	0.270000	0.110000	1.000000	0.230000	0.433277	0.270000	0	0.180000	1.000000
NTRK2	4915	broad.mit.edu	37	9	87635240	87635240	+	Silent	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:87635240C>A	ENST00000323115.4	+	16	2597	c.2244C>A	c.(2242-2244)acC>acA	p.T748T	NTRK2_ENST00000376214.1_Silent_p.T764T|NTRK2_ENST00000277120.3_Silent_p.T764T|NTRK2_ENST00000376213.1_Silent_p.T748T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2			46				Amitriptyline(DB00321)	AGATTTTCACCTATGGCAAAC	0.557000										TSP Lung(25;0.17)														0							SO:0001819	synonymous_variant			ENST00000323115.4	1	1	hg19	CCDS35050.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1	1	0	0	27	627	0	156	0	0	0	1	0	156	2		0	0	0	0	0	2	1	1.000000	27	620	0	155	2		0	0	0	0	156	2	-2.630835	1	1	0	0		1	0	1	1	1.886600	1	0.140000	1.990000	0.081491	0.540000	0.370000	0.760000	0.540000	0.561078	0.540000	0	0.450000	0.660000
FAM122C	159091	broad.mit.edu	37	X	133948871	133948871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:133948871C>T	ENST00000370784.4	+	2	587	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FAM122C_ENST00000414371.2_Missense_Mutation_p.R97C|FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370785.3_Missense_Mutation_p.R61C	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	p.R61C(2)		5	Acute lymphoblastic leukemia(192;0.000127)				TAGGAATCGACGCTCTCTGGT	0.388000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000370784.4	1	1	hg19	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523793	0.27299	0.0	1.49E-4	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.55588	0.51;0.51;0.51	5.37	4.5	0.54988	.	0.409996	0.29480	N	0.012036	T	0.26340	0.0643	N	0.08118	0	0.22571	N	0.998978	B;P;P;P	0.38048	0.386;0.616;0.616;0.616	B;B;B;B	0.19666	0.016;0.016;0.016;0.026	T	0.13899	-1.0492	10	0.66056	D	0.02	-9.8706	10.5203	0.44914	0.1931:0.8069:0.0:0.0	.	97;61;61;61	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	C	97;61;61	ENSP00000402477:R97C;ENSP00000359820:R61C;ENSP00000359821:R61C	ENSP00000359820:R61C	R	+	1	0	FAM122C	133776537	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.685000	0.25378	1.031000	0.39867	0.579000	0.79373	CGC		TCGA-IB-7645-01A-22D-2201-08	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	12	633	0	106	0	3.289173e-02	0	14	0	106	2		0	0	0	0	0	2	1	0.999008	12	620	0	106	2		0	0	0	0	106	2	-3.039538	1	1	121406	1	38	1	0	1	1			0.140000	1.990000	0.140000	0.270000	0.140000	0.440000	0.260000	0.284295	0.270000	0	0.200000	0.360000
ATP2B3	492	broad.mit.edu	37	X	152807149	152807149	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:152807149C>T	ENST00000349466.2	+	4	755	c.429C>T	c.(427-429)ggC>ggT	p.G143G	ATP2B3_ENST00000263519.4_Silent_p.G143G|ATP2B3_ENST00000370181.2_Silent_p.G143G|ATP2B3_ENST00000370186.1_Silent_p.G143G|ATP2B3_ENST00000359149.3_Silent_p.G143G|ATP2B3_ENST00000393842.1_Silent_p.G143G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3			50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				TGTCGGGAGGCGCAGAAGATG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000349466.2	1	1	hg19	CCDS35440.1																																																																																				TCGA-IB-7645-01A-22D-2201-08	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	1	0	0	21	379	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	0.999997	21	374	0	74	2		0	0	0	0	76	2	-19.997570	1	1	121408	2	33	1	0	1	1			0.140000	1.990000	0.140000	0.750000	0.480000	1.000000	1.000000	0.762548	0.750000	0	0.600000	0.920000
RS1	6247	broad.mit.edu	37	X	18674869	18674869	+	Missense_Mutation	SNP	C	C	T	rs146477940	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:18674869C>T	ENST00000379984.3	-	3	128	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1			15	Hepatocellular(33;0.183)				CAGGGGTCCTCGCCTTCATCC	0.557000																								0							SO:0001583	missense			ENST00000379984.3	1	1	hg19	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064013	0.20067	2.61E-4	1.49E-4	ENSG00000102104	ENST00000379984	D	0.98249	-4.82	5.15	5.15	0.70609	.	0.496244	0.22178	N	0.063545	D	0.94381	0.8193	L	0.46157	1.445	0.26249	N	0.978759	B	0.31040	0.305	B	0.19148	0.024	D	0.85724	0.1327	10	0.06625	T	0.88	.	8.4044	0.32605	0.1599:0.6651:0.175:0.0	.	30	O15537	XLRS1_HUMAN	K	30	ENSP00000369320:E30K	ENSP00000369320:E30K	E	-	1	0	RS1	18584790	0.808000	0.29022	0.995000	0.50966	0.113000	0.19764	1.244000	0.32778	2.264000	0.75181	0.600000	0.82982	GAG		TCGA-IB-7645-01A-22D-2201-08	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1	1	0	0	39	568	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1.000000	39	565	0	131	2		0	0	0	0	132	2	-2.774726	1	1	121412	13	46	1	0	1	1			0.140000	1.990000	0.140000	0.910000	0.660000	1.000000	1.000000	0.899801	0.910000	1	0.780000	1.000000
P2RY4	5030	broad.mit.edu	37	X	69478844	69478844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:69478844C>T	ENST00000374519.2	-	1	810	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4			18					AGGCAGGGCACGCCAAAGAGC	0.587000																								0							SO:0001583	missense			ENST00000374519.2	1	1	hg19	CCDS14398.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.92	2.081633	0.36758	.	.	ENSG00000186912	ENST00000374519	T	0.26373	1.74	4.43	-1.97	0.07503	GPCR, rhodopsin-like superfamily (1);	0.845492	0.10248	U	0.697532	T	0.20455	0.0492	L	0.38953	1.18	0.09310	N	1	P	0.47106	0.89	P	0.49421	0.61	T	0.11567	-1.0582	10	0.44086	T	0.13	.	0.2633	0.00221	0.2575:0.2715:0.2178:0.2532	.	211	P51582	P2RY4_HUMAN	M	211	ENSP00000363643:V211M	ENSP00000363643:V211M	V	-	1	0	P2RY4	69395569	0.000000	0.05858	0.069000	0.20011	0.928000	0.56348	-0.525000	0.06214	-0.351000	0.08249	-0.239000	0.12128	GTG		TCGA-IB-7645-01A-22D-2201-08	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	1	0	0	8	182	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	0.980037	8	152	0	43	2		0	0	0	0	53	2	-10.573020	1	1	121410	6	36	1	0	1	1			0.140000	1.990000	0.140000	0.610000	0.290000	1.000000	1.000000	0.640619	0.610000	0	0.430000	0.850000
FAM9A	171482	broad.mit.edu	37	X	8763195	8763195	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:8763195C>T	ENST00000543214.1	-	7	890	c.755G>A	c.(754-756)gGa>gAa	p.G252E	FAM9A_ENST00000381003.3_Missense_Mutation_p.G252E	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A			18		Hepatocellular(5;0.219)			tcctcctcctccttcttctcc	0.463000																								0							SO:0001583	missense			ENST00000543214.1	0	1	hg19	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.786172	0.00078	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.507	-1.01	0.10169	.	.	.	.	.	T	0.15046	0.0363	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19160	-1.0314	7	0.87932	D	0	.	.	.	.	.	252	Q8IZU1	FAM9A_HUMAN	E	252	.	ENSP00000370391:G252E	G	-	2	0	FAM9A	8723195	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-1.395000	0.02516	-1.592000	0.01619	-1.314000	0.01303	GGA		TCGA-IB-7645-01A-22D-2201-08	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	0	0	0	4	58	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	0.888768	4	57	0	11	2		0	0	0	0	11	2	-3.205564	1	1	0	0		1	0	1	1			0.140000	1.990000	0.140000	0.930000	0.330000	1.000000	1.000000	0.835612	0.930000	1	0.580000	1.000000
