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
USP40	55230	broad.mit.edu	37	2	234433205	234433205	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:234433205delT	ENST00000427112.2	-	14	1846	c.1811delA	c.(1810-1812)gatfs	p.D604fs	USP40_ENST00000251722.6_Frame_Shift_Del_p.D604fs|USP40_ENST00000450966.1_Frame_Shift_Del_p.D616fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40			30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)			TGTCAGTTCATCCCCTAGAAA	0.373000																								0							SO:0001589	frameshift_variant			ENST00000427112.2	0	1	hg19	CCDS46547.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	1	0	0	13	184	0	20	0	3.858451e-01	1	18	0	20	2	0	0	0	0	0	0		1	0.999529	13	180	0	18	2	0	0	0	0	0	0		-3.320026	1	1	0	0		1	0	1	1	1.946521	0	0.350000	1.800000	0.303696	0.350000	0.200000	0.560000	0.350000	0.370930	0.350000	0	2.700000e-01	4.600000e-01
SLIT1	6585	broad.mit.edu	37	10	98763971	98763971	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:98763971G>A	ENST00000266058.4	-	34	3964	c.3719C>T	c.(3718-3720)aCg>aTg	p.T1240M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.T1240M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)			78		Colorectal(252;0.162)			ATCGTTGATCGTCTCAGCACT	0.567000																								0							SO:0001583	missense			ENST00000266058.4	1	1	hg19	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	8.709	0.911682	0.17833	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.78481	-1.18;-1.18	5.2	3.35	0.38373	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.094139	0.64402	N	0.000001	T	0.70211	0.3198	L	0.58510	1.815	0.80722	D	1	P	0.35551	0.509	B	0.34138	0.176	T	0.63637	-0.6592	10	0.20519	T	0.43	.	10.8988	0.47038	0.152:0.0:0.848:0.0	.	1240	O75093	SLIT1_HUMAN	M	1240	ENSP00000266058:T1240M;ENSP00000360109:T1240M	ENSP00000266058:T1240M	T	-	2	0	SLIT1	98753961	1.000000	0.71417	0.946000	0.38457	0.192000	0.23643	7.783000	0.85696	0.766000	0.33244	0.655000	0.94253	ACG		TCGA-M8-A5N4-01A-11D-A26I-08	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	0	0	0	38	946	0	115	0	0	0	1	0	115	2		0	0	0	0	0	2	1	1.000000	38	943	0	115	2		0	0	0	0	115	2	-3.927023	1	1	121412	1	37	1	0	0	0	2.039690	0	0.350000	1.800000	0.338422	0.210000	0.150000	0.290000	0.210000	0.221627	0.210000	0	1.800000e-01	2.600000e-01
NFRKB	4798	broad.mit.edu	37	11	129753985	129753985	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:129753985C>T	ENST00000446488.3	-	7	899	c.796G>A	c.(796-798)Gag>Aag	p.E266K	NFRKB_ENST00000524746.1_Missense_Mutation_p.E266K|NFRKB_ENST00000524794.1_Missense_Mutation_p.E291K|NFRKB_ENST00000304521.5_Missense_Mutation_p.E266K	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein			32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)			TTCCGCTTCTCGTGGTGCTTC	0.473000																								0							SO:0001583	missense			ENST00000446488.3	1	1	hg19	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579891	0.65992	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	N	0.24115	0.695	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.986;0.981;0.992;0.994	T	0.60652	-0.7221	9	0.28530	T	0.3	-28.5975	20.6439	0.99570	0.0:1.0:0.0:0.0	.	278;266;266;291	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	K	266;266;291;266;278	.	ENSP00000303800:E266K	E	-	1	0	NFRKB	129259195	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.899000	0.69846	2.884000	0.98904	0.655000	0.94253	GAG		TCGA-M8-A5N4-01A-11D-A26I-08	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	0	0	1	139	820	1	110	1	5.382828e-01	6	6	1	110	2		0	0	0	0	0	2	1	1.000000	138	814	1	110	27		0	0	0	1	110	2	-3.221886	1	1	121412	4	38	1	1	2	3	2.125324	0	0.350000	1.800000	0.358974	0.840000	0.710000	1.000000	0.840000	0.852419	0.840000	0	7.700000e-01	9.300000e-01
OR5D14	219436	broad.mit.edu	37	11	55563781	55563781	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:55563781C>T	ENST00000335605.1	+	1	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14			48		all_epithelial(135;0.196)			TGACTTCTATCACCATCTTCC	0.453000																								0							SO:0001819	synonymous_variant			ENST00000335605.1	1	1	hg19	CCDS31508.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	1	0	0	33	522	0	39		0	0	0	0	39	2	0	0	0	1	0	0	2	1	1.000000	33	510	0	38	2		0	0	0	0	39	2	-7.025374	1	1	0	0		1	1	2	3	2.108393	0	0.350000	1.800000	0.356754	0.340000	0.240000	1.000000	0.350000	0.381791	0.340000	0	2.800000e-01	4.200000e-01
DNHD1	144132	broad.mit.edu	37	11	6592936	6592936	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:6592936C>T	ENST00000527990.2	+	41	13982	c.13982C>T	c.(13981-13983)gCg>gTg	p.A4661V	DNHD1_ENST00000254579.6_Missense_Mutation_p.A4661V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1			55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)			GTCCTACATGCGGAGTGGGAC	0.627000																								0							SO:0001583	missense			ENST00000527990.2	0	1	hg19	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306357	0.81247	2.39E-4	0.0	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.16196	2.36;2.36	4.75	4.75	0.60458	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.40886	0.1135	M	0.67953	2.075	0.32829	D	0.503832	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.50499	-0.8821	10	0.48119	T	0.1	-13.3807	16.6824	0.85296	0.0:1.0:0.0:0.0	.	3749;714;4661	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	V	4661;4661;929	ENSP00000254579:A4661V;ENSP00000436180:A4661V	ENSP00000254579:A4661V	A	+	2	0	DNHD1	6549512	0.984000	0.35163	0.085000	0.20634	0.766000	0.43426	4.130000	0.57964	2.468000	0.83385	0.655000	0.94253	GCG		TCGA-M8-A5N4-01A-11D-A26I-08	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	1	0	1	12	101	0	13	0	1.048713e-01	0	5	0	13	2		0	0	0	0	0	2	1	0.999291	12	101	0	13	2		0	0	0	0	13	2	-18.718010	1	1	121070	5	28	1	1	2	3	2.116416	0	0.350000	1.800000	0.357866	0.630000	0.350000	1.000000	1.000000	0.661360	0.630000	0	4.700000e-01	8.500000e-01
FZD10	11211	broad.mit.edu	37	12	130648005	130648005	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:130648005G>A	ENST00000229030.4	+	1	1002	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	FZD10_ENST00000539839.1_Silent_p.A140A|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10			35	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CGGCCGCAGCGGCCCCACAGC	0.726000																								0							SO:0001583	missense			ENST00000229030.4	1	1	hg19	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	G	8.719	0.913863	0.17907	.	.	ENSG00000111432	ENST00000229030	T	0.76060	-0.99	4.94	4.05	0.47172	.	0.386985	0.19916	U	0.103198	T	0.58552	0.2130	N	0.21448	0.665	0.47698	D	0.99949	B	0.17852	0.024	B	0.06405	0.002	T	0.50127	-0.8864	10	0.13470	T	0.59	.	13.0224	0.58796	0.0791:0.0:0.9209:0.0	.	173	Q9ULW2	FZD10_HUMAN	Q	173	ENSP00000229030:R173Q	ENSP00000229030:R173Q	R	+	2	0	FZD10	129213958	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.087000	0.57671	1.060000	0.40578	0.491000	0.48974	CGG		TCGA-M8-A5N4-01A-11D-A26I-08	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	23	268	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	0.999903	16	158	0	10	2		0	0	0	0	33	2	-20.000000	1	1	118772	1	31	1	0	1	1	1.984785	0	0.350000	1.800000	0.304999	0.420000	0.270000	0.600000	0.420000	0.434340	0.420000	0	3.400000e-01	5.200000e-01
ABCC9	10060	broad.mit.edu	37	12	21968727	21968727	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:21968727G>A	ENST00000261201.4	-	32	3992	c.3993C>T	c.(3991-3993)caC>caT	p.H1331H	ABCC9_ENST00000345162.2_Silent_p.H1295H|ABCC9_ENST00000261200.4_Silent_p.H1331H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9			118				Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAGCCTTGACGTGCTTAAGAA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000261201.4	1	1	hg19	CCDS8694.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	1	0	0	40	443	0	36	0	6.100583e-02	0	5	0	36	2		0	0	0	0	0	2	1	1.000000	40	439	0	36	2		0	0	0	0	36	2	-20.000000	1	1	121408	3	38	1	0	1	1	1.984529	0	0.350000	1.800000	0.302388	0.430000	0.310000	0.580000	0.440000	0.447949	0.430000	0	3.700000e-01	5.100000e-01
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-M8-A5N4-01A-11D-A26I-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	7	76	0	11	1	2.400146e-01	4	6	0	11	2	1	9.999931e-01	60	323	0	329	2	1	0.982149	7	76	0	11	2	1	1	2198	5828	0	11	2	-5.741535	1	1	121404	2	44	1	0	1	1	1.984529	0	0.350000	1.800000	0.302388	0.460000	0.210000	0.820000	0.440000	0.487007	0.460000	0	3.200000e-01	6.400000e-01
LRP10	26020	broad.mit.edu	37	14	23346384	23346384	+	Missense_Mutation	SNP	G	G	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr14:23346384G>T	ENST00000359591.4	+	7	2481	c.1790G>T	c.(1789-1791)gGt>gTt	p.G597V	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10			32	all_cancers(95;4.69e-05)				GGTGGCACAGGTCCAGCCCGT	0.672000																								0							SO:0001583	missense			ENST00000359591.4	1	1	hg19	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	6.223	0.409237	0.11812	.	.	ENSG00000197324	ENST00000359591	D	0.93019	-3.15	4.9	4.0	0.46444	.	0.526557	0.20965	N	0.082496	D	0.89708	0.6793	L	0.44542	1.39	0.09310	N	0.99999	B	0.32968	0.392	B	0.37387	0.248	T	0.83140	-0.0109	10	0.51188	T	0.08	-4.5206	7.5525	0.27806	0.1908:0.0:0.8092:0.0	.	597	Q7Z4F1	LRP10_HUMAN	V	597	ENSP00000352601:G597V	ENSP00000352601:G597V	G	+	2	0	LRP10	22416224	0.000000	0.05858	0.057000	0.19452	0.102000	0.19082	0.245000	0.18142	1.418000	0.47098	0.462000	0.41574	GGT		TCGA-M8-A5N4-01A-11D-A26I-08	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3	1	0	1	78	321	0	58	1	1	210	343	0	58	2		0	0	0	0	0	2	1	1.000000	77	314	0	58	2		0	0	0	0	58	2	-20.000000	1	1	0	0		1	1	2	3	2.087478	0	0.350000	1.800000	0.352267	0.990000	0.900000	1.000000	1.000000	0.992960	0.990000	1	9.900000e-01	1
TTBK2	146057	broad.mit.edu	37	15	43044234	43044234	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:43044234C>T	ENST00000267890.6	-	14	3318	c.3210G>A	c.(3208-3210)tcG>tcA	p.S1070S		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2			43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)			AGAACTGAGACGAAGTTGAGC	0.493000																								0							SO:0001819	synonymous_variant			ENST00000267890.6	1	1	hg19	CCDS42029.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	1	0	1	117	476	0	87		0	0	0	0	87	2	0	0	0	1	0	0	2	1	1.000000	117	475	0	86	2		0	0	0	0	87	2	-20.000000	1	1	120934	1	31	1	0	1	1	1.755898	1	0.350000	1.800000	0.213789	0.910000	0.770000	1.000000	0.930000	0.909975	0.910000	1	8.400000e-01	9.700000e-01
TAOK2	9344	broad.mit.edu	37	16	29990391	29990391	+	Splice_Site	SNP	G	G	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:29990391G>C	ENST00000308893.4	+	6	1492	c.449G>C	c.(448-450)aGg>aCg	p.R150T	TAOK2_ENST00000543033.1_Splice_Site_p.R150T|TAOK2_ENST00000279394.3_Splice_Site_p.R150T|TAOK2_ENST00000416441.2_5'Flank	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2			22					ATGATCCATAGGTACAAGCAG	0.582000																								0							SO:0001630	splice_region_variant			ENST00000308893.4	1	0	hg19	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991107	0.74703	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.48836	0.8;0.8;0.8	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.87449	0.2400	9	.	.	.	.	18.3871	0.90470	0.0:0.0:1.0:0.0	.	334;150;150;150	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	T	150	ENSP00000310094:R150T;ENSP00000440336:R150T;ENSP00000279394:R150T	.	R	+	2	0	TAOK2	29897892	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	9.813000	0.99286	2.708000	0.92522	0.467000	0.42956	AGG		TCGA-M8-A5N4-01A-11D-A26I-08	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	1	0	1	123	466	0	66	1	9.967126e-01	8	27	0	66	2	0	0	0	1	0	0	2	1	1.000000	123	463	0	66	2		0	0	0	0	66	2	-3.866522	1	1	0	0		1	1	2	3	2.122472	0	0.350000	1.800000	0.358974	0.990000	0.990000	1.000000	1.000000	0.999676	0.990000	1	9.900000e-01	1
HPR	3250	broad.mit.edu	37	16	72110604	72110604	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:72110604C>T	ENST00000540303.2	+	5	703	c.671C>T	c.(670-672)tCt>tTt	p.S224F	HPR_ENST00000228226.8_Missense_Mutation_p.S261F|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.S224F	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein			20		Ovarian(137;0.125)			GGTTACGTGTCTGGCTGGGGA	0.453000																								0							SO:0001583	missense			ENST00000540303.2	1	1	hg19	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	11.02	1.515799	0.27123	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.93811	-3.29;-3.29;-3.29	2.5	2.5	0.30297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.068951	0.64402	D	0.000013	D	0.96676	0.8915	M	0.92122	3.275	0.37659	D	0.922709	D	0.76494	0.999	D	0.78314	0.991	D	0.96891	0.9653	10	0.87932	D	0	.	8.5567	0.33485	0.0:0.76:0.24:0.0	.	224	P00739	HPTR_HUMAN	F	224;224;261	ENSP00000349451:S224F;ENSP00000441828:S224F;ENSP00000228226:S261F	ENSP00000228226:S261F	S	+	2	0	HP	70668105	0.998000	0.40836	0.906000	0.35671	0.026000	0.11368	3.369000	0.52365	1.386000	0.46466	0.205000	0.17691	TCT		TCGA-M8-A5N4-01A-11D-A26I-08	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	1	0	1	96	520	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1.000000	95	513	0	66	2		0	0	0	0	66	2	-20.000000	1	1	0	0		1	1	2	3	2.122472	0	0.350000	1.800000	0.358974	0.900000	0.740000	1.000000	1.000000	0.906899	0.900000	1	8.200000e-01	1
RASL10B	91608	broad.mit.edu	37	17	34062239	34062239	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:34062239G>A	ENST00000268864.3	+	2	413	c.36G>A	c.(34-36)gcG>gcA	p.A12A		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B			10					TGCTGGGGGCGCGAGGTGTGG	0.682000																								0							SO:0001819	synonymous_variant			ENST00000268864.3	1	1	hg19	CCDS11297.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256498.2	1	0	1	56	263	0	52	0	2.184153e-01	0	5	0	52	2		0	0	0	0	0	2	1	1.000000	56	260	0	50	2		0	0	0	0	52	2	-3.387782	1	1	121402	5	36	1	1	2	3	2.093291	0	0.350000	1.800000	0.354518	0.990000	0.780000	1.000000	1.000000	0.960288	0.990000	1	8.900000e-01	1
TP53	7157	broad.mit.edu	37	17	7577118	7577118	+	Missense_Mutation	SNP	C	C	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:7577118C>A	ENST00000269305.4	-	8	1009	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000420246.2_Missense_Mutation_p.V274F|TP53_ENST00000359597.4_Missense_Mutation_p.V274F|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CAGGCACAAACACGCACCTCA	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	54	Substitution - Missense(36)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Unknown(2)						SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201113	0.38905	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99832	-7.02;-7.02;-7.02;-7.02;-7.02;-7.02	4.92	-0.763	0.11030	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.312804	0.33382	N	0.004980	D	0.99670	0.9877	M	0.87456	2.885	0.38916	D	0.957632	B;D;B;B	0.56746	0.434;0.977;0.209;0.125	B;P;P;B	0.61477	0.373;0.889;0.561;0.389	D	0.99218	1.0878	10	0.87932	D	0	-10.2267	9.2232	0.37390	0.0:0.5803:0.0:0.4197	.	274;274;274;274	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	274;274;274;274;274;263;142	ENSP00000352610:V274F;ENSP00000269305:V274F;ENSP00000398846:V274F;ENSP00000391127:V274F;ENSP00000391478:V274F;ENSP00000425104:V142F	ENSP00000269305:V274F	V	-	1	0	TP53	7517843	0.002000	0.14202	0.148000	0.22405	0.724000	0.41520	-0.002000	0.12924	-0.004000	0.14419	0.462000	0.41574	GTT		TCGA-M8-A5N4-01A-11D-A26I-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	34	125	0	20	1	9.999343e-01	29	30	0	20	2	1	1	184	777	0	1031	2	1	1.000000	34	123	0	20	2		0	0	0	0	20	2	-20.000000	1	1	0	0		1	0	1	1	1.760334	1	0.350000	1.800000	0.213789	0.900000	0.690000	1.000000	1.000000	0.893673	0.900000	1	8.000000e-01	9.800000e-01
SIPA1L3	23094	broad.mit.edu	37	19	38631993	38631993	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:38631993G>A	ENST00000222345.6	+	11	3822	c.3313G>A	c.(3313-3315)Ggc>Agc	p.G1105S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3			59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		AACCACTCCCGGCCATGCCCA	0.677000																								0							SO:0001583	missense			ENST00000222345.6	1	1	hg19	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693622	0.48202	0.0	1.16E-4	ENSG00000105738	ENST00000222345	T	0.75821	-0.97	4.47	4.47	0.54385	.	0.357974	0.27971	N	0.017118	T	0.60856	0.2301	L	0.40543	1.245	0.42698	D	0.993608	P	0.44776	0.843	B	0.30855	0.121	T	0.64643	-0.6359	10	0.28530	T	0.3	-39.7275	16.0823	0.81012	0.0:0.0:1.0:0.0	.	1105	O60292	SI1L3_HUMAN	S	1105	ENSP00000222345:G1105S	ENSP00000222345:G1105S	G	+	1	0	SIPA1L3	43323833	0.984000	0.35163	0.921000	0.36526	0.306000	0.27790	1.874000	0.39568	2.326000	0.78906	0.460000	0.39030	GGC		TCGA-M8-A5N4-01A-11D-A26I-08	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	1	0	1	56	698	0	109	1	8.916491e-01	8	42	0	109	2		0	0	0	0	0	2	1	1.000000	55	680	0	107	2		0	0	0	0	109	2	-3.017764	1	1	121410	1	39	1	0	1	1	1.973323	0	0.350000	1.800000	0.312715	0.390000	0.300000	0.510000	0.400000	0.406280	0.390000	0	3.400000e-01	4.600000e-01
OR7D4	125958	broad.mit.edu	37	19	9325150	9325150	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:9325150G>A	ENST00000308682.2	-	1	392	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4			26					GCCACAAACCGGTCATAGGCC	0.502000																								0							SO:0001583	missense			ENST00000308682.2	1	1	hg19	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	9.590	1.125799	0.20959	.	.	ENSG00000174667	ENST00000308682	T	0.77620	-1.11	4.0	0.493	0.16878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.81240	0.4781	H	0.97390	3.995	0.33784	D	0.62468	B	0.22211	0.066	B	0.08055	0.003	T	0.78301	-0.2257	10	0.87932	D	0	.	5.4796	0.16717	0.1815:0.0:0.6597:0.1588	.	122	Q8NG98	OR7D4_HUMAN	W	122	ENSP00000310488:R122W	ENSP00000310488:R122W	R	-	1	2	OR7D4	9186150	0.375000	0.25089	0.907000	0.35723	0.323000	0.28346	0.213000	0.17521	0.107000	0.17824	-0.436000	0.05848	CGG		TCGA-M8-A5N4-01A-11D-A26I-08	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	1	0	1	69	356	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1.000000	68	353	0	56	2		0	0	0	0	57	2	-3.233492	1	1	121412	17	45	1	0	1	1	1.973323	0	0.350000	1.800000	0.312715	0.870000	0.690000	1.000000	1.000000	0.875693	0.870000	1	7.700000e-01	9.700000e-01
PRAMEF1	65121	broad.mit.edu	37	1	12854372	12854372	+	Missense_Mutation	SNP	T	T	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:12854372T>C	ENST00000332296.7	+	3	699	c.596T>C	c.(595-597)tTg>tCg	p.L199S	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1			35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)			AGAAAGTCATTGAAAATAATA	0.403000																								0							SO:0001583	missense			ENST00000332296.7	1	1	hg19	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	10.22	1.290503	0.23478	.	.	ENSG00000116721	ENST00000332296	T	0.01304	5.03	1.74	-0.699	0.11277	.	0.103357	0.40385	N	0.001104	T	0.06462	0.0166	M	0.86651	2.83	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11817	-1.0572	10	0.66056	D	0.02	.	4.2602	0.10737	0.0:0.4723:0.0:0.5277	.	199	O95521	PRAM1_HUMAN	S	199	ENSP00000332134:L199S	ENSP00000332134:L199S	L	+	2	0	PRAMEF1	12776959	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.259000	0.18405	-0.203000	0.10251	-0.451000	0.05528	TTG		TCGA-M8-A5N4-01A-11D-A26I-08	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	1	0	0	203	2943	0	310		0	0	0	0	310	2		0	0	0	0	0	2	1	1.000000	178	2497	0	433	2		0	0	0	0	310	2	-20.000000	1	1	0	0		1						0.350000	1.800000									0	0
OR6Y1	391112	broad.mit.edu	37	1	158517227	158517227	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:158517227G>A	ENST00000302617.3	-	1	668	c.669C>T	c.(667-669)taC>taT	p.Y223Y		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1			30	all_hematologic(112;0.0378)				GGATAGCAGCGTAGGATGCCA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000302617.3	1	1	hg19	CCDS30899.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	1	0	1	56	346	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1.000000	56	341	0	52	2		0	0	0	0	52	2	-3.319188	1	1	121402	9	39	1	1	2	3	2.126262	0	0.350000	1.800000	0.358974	0.810000	0.620000	1.000000	1.000000	0.824293	0.810000	0	7.100000e-01	9.400000e-01
SPEN	23013	broad.mit.edu	37	1	16264319	16264319	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:16264319G>A	ENST00000375759.3	+	13	10726	c.10522G>A	c.(10522-10524)Gtg>Atg	p.V3508M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor			149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)			GTACCCCATCGTGTGGCAGGG	0.597000																								0							SO:0001583	missense			ENST00000375759.3	1	1	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323605	0.60634	.	.	ENSG00000065526	ENST00000375759	T	0.08896	3.04	5.71	5.71	0.89125	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);	.	.	.	.	T	0.05823	0.0152	N	0.11560	0.145	0.53688	D	0.999972	P	0.44380	0.834	B	0.35655	0.207	T	0.47774	-0.9091	9	0.37606	T	0.19	-13.6961	19.8449	0.96704	0.0:0.0:1.0:0.0	.	3508	Q96T58	MINT_HUMAN	M	3508	ENSP00000364912:V3508M	ENSP00000364912:V3508M	V	+	1	0	SPEN	16136906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.544000	0.82117	2.680000	0.91292	0.655000	0.94253	GTG		TCGA-M8-A5N4-01A-11D-A26I-08	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	1	0	1	131	607	0	121	1	9.992775e-01	23	28	0	121	2		0	0	0	0	0	2	1	1.000000	115	526	0	115	2		0	0	0	0	121	2	-20.000000	1	1	0	0		1	0	0	0	1.998920	0	0.350000	1.800000	0.323973	0.960000	0.820000	1.000000	1.000000	0.956317	0.960000	1	8.900000e-01	1
PROX1	5629	broad.mit.edu	37	1	214170479	214170479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:214170479C>T	ENST00000366958.4	+	2	1209	c.601C>T	c.(601-603)Cga>Tga	p.R201*	PROX1_ENST00000261454.4_Nonsense_Mutation_p.R201*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.R201*|PROX1_ENST00000498508.2_Nonsense_Mutation_p.R201*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1			47					TGTGAGTCCCCGAGAAAGTTA	0.502000																								0							SO:0001587	stop_gained			ENST00000366958.4	0	1	hg19	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	43	10.327939	0.99384	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	.	.	.	6.07	6.07	0.98685	.	0.062767	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-1.8463	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	.	.	.	X	201	.	ENSP00000261454:R201X	R	+	1	2	PROX1	212237102	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.382000	0.44345	2.885000	0.99019	0.655000	0.94253	CGA		TCGA-M8-A5N4-01A-11D-A26I-08	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	0	0	0	11	405	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	0.998314	11	402	0	43	2		0	0	0	0	44	2	-2.847615	1	1	0	0		1	1	2	3	2.132000	0	0.350000	1.800000	0.360079	0.160000	0.080000	1.000000	0.150000	0.226577	0.160000	0	1.100000e-01	2.300000e-01
OBSCN	84033	broad.mit.edu	37	1	228475547	228475547	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:228475547C>T	ENST00000422127.1	+	36	9741	c.9697C>T	c.(9697-9699)Cgc>Tgc	p.R3233C	OBSCN_ENST00000284548.11_Missense_Mutation_p.R3233C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R352C|OBSCN_ENST00000570156.2_Missense_Mutation_p.R3662C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2080C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R352C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			ATACAGCCTACGCCAGGAGGG	0.622000																								0							SO:0001583	missense			ENST00000422127.1	0	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875638	0.51695	4.66E-4	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.06	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075114	0.48286	N	0.000199	T	0.79511	0.4458	M	0.89095	3.005	0.41537	D	0.988493	D;D	0.89917	1.0;1.0	D;P	0.72625	0.978;0.886	T	0.77958	-0.2392	10	0.37606	T	0.19	.	3.8297	0.08868	0.2637:0.5173:0.136:0.0829	.	3233;3233	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3233;3233;352;352;2080	ENSP00000284548:R3233C;ENSP00000409493:R3233C;ENSP00000355668:R352C;ENSP00000355670:R352C;ENSP00000352613:R2080C	ENSP00000284548:R3233C	R	+	1	0	OBSCN	226542170	0.059000	0.20769	0.965000	0.40720	0.044000	0.14063	1.922000	0.40045	1.136000	0.42199	0.561000	0.74099	CGC		TCGA-M8-A5N4-01A-11D-A26I-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	28	322	1	63	1	5.796282e-02	2	3	1	63	2		0	0	0	0	0	2	1	0.948727	28	319	1	62	18		0	0	0	1	63	2	-20.000000	1	1	121188	3	42	1	1	2	3	2.133881	0	0.350000	1.800000	0.360079	0.470000	0.310000	1.000000	0.460000	0.513894	0.470000	0	3.900000e-01	5.900000e-01
RIMS4	140730	broad.mit.edu	37	20	43400046	43400046	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:43400046G>A	ENST00000372851.3	-	2	172	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	RIMS4_ENST00000541604.2_Missense_Mutation_p.R37W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	p.R36W(1)		29		Myeloproliferative disorder(115;0.0122)			TTCAGCCTCCGGCTGTCCCCT	0.622000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000372851.3	1	1	hg19	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948065	0.73787	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.25912	1.83;1.77	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	L	0.50333	1.59	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	P;D	0.63793	0.881;0.918	T	0.33929	-0.9849	10	0.87932	D	0	.	13.1683	0.59583	0.0:0.0:0.8396:0.1604	.	37;36	E1P613;Q9H426	.;RIMS4_HUMAN	W	36;37	ENSP00000361942:R36W;ENSP00000439287:R37W	ENSP00000361942:R36W	R	-	1	2	RIMS4	42833460	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.390000	0.52523	2.148000	0.66965	0.551000	0.68910	CGG		TCGA-M8-A5N4-01A-11D-A26I-08	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	1	0	0	26	559	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1.000000	25	556	0	76	2		0	0	0	0	76	2	-3.305778	1	1	0	0		1	0	1	1	2.072277	0	0.350000	1.800000	0.348861	0.250000	0.160000	0.360000	0.250000	0.261543	0.250000	0	2.000000e-01	3.100000e-01
FERMT1	55612	broad.mit.edu	37	20	6078257	6078257	+	Missense_Mutation	SNP	G	G	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:6078257G>C	ENST00000217289.4	-	7	1659	c.871C>G	c.(871-873)Caa>Gaa	p.Q291E	FERMT1_ENST00000536936.1_Missense_Mutation_p.Q34E	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1			17					TCATAGAGTTGGTTTATTCGG	0.403000																								0							SO:0001583	missense			ENST00000217289.4	1	1	hg19	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883375	0.91740	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.80304	-1.36;-1.36	5.64	5.64	0.86602	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.994;0.999	D	0.91498	0.5217	10	0.72032	D	0.01	-13.9011	19.3066	0.94165	0.0:0.0:1.0:0.0	.	291;291;291	B2RAX1;Q9BQL6-4;Q9BQL6	.;.;FERM1_HUMAN	E	291;34;291	ENSP00000217289:Q291E;ENSP00000441063:Q34E	ENSP00000217289:Q291E	Q	-	1	0	FERMT1	6026257	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.405000	0.97313	2.673000	0.90976	0.555000	0.69702	CAA		TCGA-M8-A5N4-01A-11D-A26I-08	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	1	0	1	93	441	0	50	1	8.837772e-01	20	0	0	50	2		0	0	0	0	0	2	1	1.000000	91	439	0	50	2		0	0	0	0	50	2	-3.253614	1	1	0	0		1	0	1	1	1.748781	1	0.350000	1.800000	0.215450	0.810000	0.670000	0.960000	0.820000	0.822817	0.810000	0	7.400000e-01	9.000000e-01
RFPL3	10738	broad.mit.edu	37	22	32756681	32756681	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:32756681C>T	ENST00000249007.4	+	2	1021	c.816C>T	c.(814-816)agC>agT	p.S272S	RFPL3_ENST00000397468.1_Silent_p.S243S|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Silent_p.S243S|RFPL3S_ENST00000461833.1_5'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3			15					CATTCAGGAGCGTCTCTGCTG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000249007.4	1	1	hg19	CCDS43011.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	1	0	0	92	445	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1.000000	85	436	0	37	2		0	0	0	0	36	2	-20.000000	1	1	121412	1	35	1	0	1	1	1.950417	0	0.350000	1.800000	0.295775	0.890000	0.730000	1.000000	1.000000	0.899647	0.890000	1	8.100000e-01	9.900000e-01
ZSWIM2	151112	broad.mit.edu	37	2	187698677	187698677	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:187698677C>T	ENST00000295131.2	-	6	863	c.824G>A	c.(823-825)cGt>cAt	p.R275H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2			52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		CTGTACCTCACGAAATGTAAA	0.363000																								0							SO:0001583	missense			ENST00000295131.2	0	1	hg19	CCDS33348.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.35	3.366207	0.61513	2.27E-4	0.0	ENSG00000163012	ENST00000295131	D	0.87650	-2.28	5.78	5.78	0.91487	.	0.000000	0.53938	D	0.000044	D	0.91287	0.7253	L	0.47190	1.495	0.47374	D	0.999403	D	0.89917	1.0	D	0.74023	0.982	D	0.91766	0.5424	10	0.87932	D	0	-19.6714	16.9191	0.86159	0.0:1.0:0.0:0.0	.	275	Q8NEG5	ZSWM2_HUMAN	H	275	ENSP00000295131:R275H	ENSP00000295131:R275H	R	-	2	0	ZSWIM2	187406922	0.998000	0.40836	0.997000	0.53966	0.106000	0.19336	4.940000	0.63533	2.722000	0.93159	0.467000	0.42956	CGT		TCGA-M8-A5N4-01A-11D-A26I-08	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	1	0	1	24	210	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1.000000	24	210	0	23	2		0	0	0	0	23	2	-20.000000	1	1	121390	5	39	1	0	1	1	2.007246	0	0.350000	1.800000	0.319015	0.560000	0.370000	0.780000	0.560000	0.572523	0.560000	0	4.500000e-01	6.800000e-01
ATAD2B	54454	broad.mit.edu	37	2	23977530	23977530	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:23977530C>T	ENST00000238789.5	-	26	4536	c.4193G>A	c.(4192-4194)cGt>cAt	p.R1398H	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B			1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CAATCTCTCACGATCAACTAT	0.403000																								0							SO:0001583	missense			ENST00000238789.5	1	1	hg19	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.192|5.192	0.221047|0.221047	0.09863|0.09863	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.90261|.	-2.64|.	5.39|5.39	-4.04|-4.04	0.04010|0.04010	.|.	0.279593|.	0.29438|.	N|.	0.012153|.	T|T	0.05410|0.05410	0.0143|0.0143	N|N	0.00095|0.00095	-2.16|-2.16	0.22675|0.22675	N|N	0.998867|0.998867	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.45308|0.45308	-0.9270|-0.9270	10|5	0.02654|.	T|.	1|.	.|.	11.5971|11.5971	0.50979|0.50979	0.0:0.4558:0.0:0.5442|0.0:0.4558:0.0:0.5442	.|.	1398;1393|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	H|M	1398;566|674	ENSP00000238789:R1398H|.	ENSP00000238789:R1398H|.	R|V	-|-	2|1	0|0	ATAD2B|ATAD2B	23831034|23831034	0.195000|0.195000	0.23338|0.23338	0.527000|0.527000	0.27925|0.27925	0.987000|0.987000	0.75469|0.75469	-0.109000|-0.109000	0.10840|0.10840	-0.957000|-0.957000	0.03627|0.03627	0.650000|0.650000	0.86243|0.86243	CGT|GTG		TCGA-M8-A5N4-01A-11D-A26I-08	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	1	0	0	21	318	0	31	0	1.340952e-01	1	9	0	31	2		0	0	0	0	0	2	1	0.999997	21	313	0	31	2		0	0	0	0	31	2	-6.279321	1	1	0	0		1	0	1	1	1.746408	1	0.350000	1.800000	0.215450	0.290000	0.180000	0.420000	0.290000	0.302167	0.290000	0	2.300000e-01	3.600000e-01
CCDC85A	114800	broad.mit.edu	37	2	56419682	56419682	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:56419682G>A	ENST00000407595.2	+	2	849	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A			38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		GATGATGACCGGCAGAAAGGC	0.527000																								0							SO:0001583	missense			ENST00000407595.2	1	1	hg19	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021809	0.93462	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.27	5.27	0.74061	.	0.051335	0.85682	D	0.000000	D	0.83871	0.5348	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86316	0.1689	9	0.87932	D	0	-27.2196	18.8832	0.92365	0.0:0.0:1.0:0.0	.	116	Q96PX6	CC85A_HUMAN	Q	116	.	ENSP00000384040:R116Q	R	+	2	0	CCDC85A	56273186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.455000	0.83008	0.655000	0.94253	CGG		TCGA-M8-A5N4-01A-11D-A26I-08	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1	1	0	1	54	335	0	46	1	2.009499e-02	2	0	0	46	2		0	0	0	0	0	2	1	1.000000	53	332	0	46	2		0	0	0	0	46	2	-2.642531	1	1	120926	1	33	1	0	1	1	1.992135	0	0.350000	1.800000	0.315249	0.740000	0.570000	0.940000	0.750000	0.758441	0.740000	0	6.500000e-01	8.500000e-01
TBCK	93627	broad.mit.edu	37	4	107168383	107168383	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:107168383G>A	ENST00000273980.5	-	11	1291	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	TBCK_ENST00000394706.3_Missense_Mutation_p.P243S|TBCK_ENST00000394708.2_Missense_Mutation_p.P282S|TBCK_ENST00000432496.2_Missense_Mutation_p.P282S|TBCK_ENST00000361687.4_Missense_Mutation_p.P219S					TBC1 domain containing kinase			25					TTGGTAAAGGGGGTATATAAA	0.378000																								0							SO:0001583	missense			ENST00000273980.5	1	1	hg19	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223662	0.22457	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.59	3.83	0.44106	Protein kinase-like domain (1);	0.142749	0.64402	D	0.000004	T	0.08133	0.0203	L	0.54323	1.7	0.43588	D	0.995939	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.13407	0.0;0.009;0.004	T	0.13872	-1.0493	10	0.12766	T	0.61	.	8.6759	0.34179	0.0709:0.0:0.657:0.2721	.	282;243;219	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	S	282;282;219;243;282	ENSP00000273980:P282S;ENSP00000405847:P282S;ENSP00000355338:P219S;ENSP00000378196:P243S;ENSP00000378198:P282S	ENSP00000273980:P282S	P	-	1	0	TBCK	107387832	1.000000	0.71417	0.060000	0.19600	0.300000	0.27592	3.203000	0.51075	1.339000	0.45563	0.563000	0.77884	CCC		TCGA-M8-A5N4-01A-11D-A26I-08	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	1	0	1	36	298	0	25	0	2.597964e-01	0	9	0	25	2		0	0	0	0	0	2	1	1.000000	35	289	0	25	2		0	0	0	0	25	2	-20.000000	1	0	0	0		1	0	1	1	1.957095	0	0.350000	1.800000	0.298435	0.560000	0.400000	0.750000	0.570000	0.578910	0.560000	0	4.800000e-01	6.600000e-01
WDR17	116966	broad.mit.edu	37	4	177100716	177100716	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:177100716C>T	ENST00000280190.4	+	31	4111	c.3955C>T	c.(3955-3957)Ctc>Ttc	p.L1319F	WDR17_ENST00000507824.2_Missense_Mutation_p.L1294F|WDR17_ENST00000393643.2_Missense_Mutation_p.L1295F|WDR17_ENST00000508596.1_Missense_Mutation_p.L1280F			Q8IZU2	WDR17_HUMAN	WD repeat domain 17			92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)			TGGAATACGACTCAATCCATT	0.368000																								0							SO:0001583	missense			ENST00000280190.4	1	1	hg19	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.111338|4.111338	0.77210|0.77210	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.63096|.	-0.01;0.04;-0.02|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.072960|.	0.56097|.	D|.	0.000031|.	T|T	0.76485|0.76485	0.3994|0.3994	M|M	0.70595|0.70595	2.14|2.14	0.52099|0.52099	D|D	0.999941|0.999941	D;D;D|.	0.65815|.	0.986;0.995;0.995|.	P;P;P|.	0.56700|.	0.717;0.804;0.804|.	T|T	0.74334|0.74334	-0.3699|-0.3699	10|5	0.66056|.	D|.	0.02|.	-12.7112|-12.7112	19.8379|19.8379	0.96666|0.96666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1295;1280;1319|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	F|I	1280;1295;1319;1295|553	ENSP00000422763:L1280F;ENSP00000377258:L1295F;ENSP00000280190:L1319F|.	ENSP00000280190:L1319F|.	L|T	+|+	1|2	0|0	WDR17|WDR17	177337710|177337710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.734000|4.734000	0.62043|0.62043	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	CTC|ACT		TCGA-M8-A5N4-01A-11D-A26I-08	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2	1	0	1	75	421	0	32	0	0	1	0	0	32	2		0	0	0	0	0	2	1	1.000000	75	416	0	31	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	2	2	4	2.187993	1	0.350000	1.800000	0.384470	0.920000	0.730000	1.000000	1.000000	0.918253	0.920000	1	8.200000e-01	1
CORIN	10699	broad.mit.edu	37	4	47682234	47682234	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:47682234G>A	ENST00000273857.4	-	8	1055	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D	CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Silent_p.D285D|CORIN_ENST00000508498.1_Silent_p.D213D|CORIN_ENST00000505909.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase			79					TGCAGCGCCCGTCCCCGCAGC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000273857.4	1	1	hg19	CCDS3477.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2	1	0	1	32	169	0	34	0	3.813976e-01	0	8	0	34	2		0	0	0	0	0	2	1	1.000000	32	167	0	34	2		0	0	0	0	34	2	-20.000000	1	1	121410	4	33	1	0	1	1	1.957095	0	0.350000	1.800000	0.298435	0.830000	0.590000	1.000000	1.000000	0.840200	0.830000	0	7.100000e-01	9.800000e-01
PCDHB8	56128	broad.mit.edu	37	5	140559743	140559743	+	Missense_Mutation	SNP	G	G	A	rs142723933	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:140559743G>A	ENST00000239444.2	+	1	2373	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8			83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GCTCCTGTTCGTGGCGGTGCT	0.677000																								0							SO:0001583	missense			ENST00000239444.2	1	1	hg19	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988166	0.53934	.	.	ENSG00000120322	ENST00000239444	T	0.15256	2.44	4.22	0.734	0.18294	.	.	.	.	.	T	0.26955	0.0660	M	0.92317	3.295	0.09310	N	1	P	0.38745	0.645	B	0.35770	0.21	T	0.19451	-1.0305	9	0.72032	D	0.01	.	8.2196	0.31532	0.4409:0.0:0.5591:0.0	.	710	Q9UN66	PCDB8_HUMAN	M	710	ENSP00000239444:V710M	ENSP00000239444:V710M	V	+	1	0	PCDHB8	140539927	0.011000	0.17503	0.084000	0.20598	0.243000	0.25628	0.173000	0.16724	0.252000	0.21531	0.298000	0.19748	GTG		TCGA-M8-A5N4-01A-11D-A26I-08	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	1	0	0	91	973	0	158	0	1.477097e-01	0	8	0	158	2		0	0	0	0	0	2	1	1.000000	83	907	1	145	22		0	0	0	0	158	2	-19.950560	1	1	121398	42	51	1	1	2	3	2.122033	0	0.350000	1.800000	0.358974	0.490000	0.400000	1.000000	0.500000	0.531449	0.490000	0	4.400000e-01	5.600000e-01
ADAMTS12	81792	broad.mit.edu	37	5	33546294	33546294	+	Missense_Mutation	SNP	C	C	G			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:33546294C>G	ENST00000504830.1	-	22	4651	c.4316G>C	c.(4315-4317)tGt>tCt	p.C1439S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C1354S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12			216					TCCACCTCCACAGGACCTGGA	0.468000										HNSCC(64;0.19)														0							SO:0001583	missense			ENST00000504830.1	1	1	hg19	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950606	0.73787	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.79033	-1.23;-1.23	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.93864	0.8037	H	0.99847	4.84	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.994;0.997	D	0.96252	0.9184	10	0.87932	D	0	.	14.9937	0.71412	0.0:1.0:0.0:0.0	.	1354;1439	P58397-3;P58397	.;ATS12_HUMAN	S	1439;1354	ENSP00000422554:C1439S;ENSP00000344847:C1354S	ENSP00000344847:C1354S	C	-	2	0	ADAMTS12	33582051	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.457000	0.60088	2.605000	0.88082	0.655000	0.94253	TGT		TCGA-M8-A5N4-01A-11D-A26I-08	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	0	33	168	0	25	0	9.513854e-01	0	28	0	25	2		0	0	0	0	0	2	1	1.000000	33	167	0	25	2		0	0	0	0	25	2	-20.000000	1	1	0	0		1	1	2	3	2.131482	0	0.350000	1.800000	0.360079	0.960000	0.680000	1.000000	1.000000	0.925339	0.960000	1	8.100000e-01	1
ATF6B	1388	broad.mit.edu	37	6	32093957	32093957	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:32093957C>T	ENST00000375203.3	-	5	447	c.415G>A	c.(415-417)Gac>Aac	p.D139N	ATF6B_ENST00000375201.4_Missense_Mutation_p.D136N|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta			22					GATGTTGGGTCATCTCCCAGG	0.552000																								0							SO:0001583	missense			ENST00000375203.3	1	1	hg19	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	C	7.560	0.664502	0.14710	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.55588	0.51;1.25	5.25	3.44	0.39384	.	0.566730	0.15890	U	0.239616	T	0.26955	0.0660	L	0.51422	1.61	0.25129	N	0.990582	P;B;B	0.40731	0.728;0.277;0.181	P;B;B	0.44359	0.447;0.109;0.051	T	0.11542	-1.0583	10	0.15066	T	0.55	-1.4539	6.9996	0.24803	0.0:0.7337:0.1747:0.0917	.	139;136;139	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	N	139;136	ENSP00000364349:D139N;ENSP00000364347:D136N	ENSP00000364347:D136N	D	-	1	0	ATF6B	32201935	0.976000	0.34144	0.989000	0.46669	0.994000	0.84299	1.092000	0.30927	0.774000	0.33427	0.650000	0.86243	GAC		TCGA-M8-A5N4-01A-11D-A26I-08	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2	1	0	1	34	422	0	84	1	9.999943e-01	30	199	0	84	2		0	0	0	0	0	2	1	1.000000	35	420	0	84	2		0	0	0	0	84	2	-8.879146	1	1	0	0		1	0	1	1	2.038868	0	0.350000	1.800000	0.339599	0.410000	0.290000	0.560000	0.420000	0.427974	0.410000	0	3.500000e-01	4.900000e-01
RIMS1	22999	broad.mit.edu	37	6	72806839	72806839	+	Missense_Mutation	SNP	G	G	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:72806839G>C	ENST00000521978.1	+	3	433	c.433G>C	c.(433-435)Ggc>Cgc	p.G145R	RIMS1_ENST00000522291.1_Missense_Mutation_p.G145R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G145R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G145R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G145R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G145R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G145R|RIMS1_ENST00000264839.7_Missense_Mutation_p.G145R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1			102		all_epithelial(107;0.179)|all_hematologic(105;0.212)			GCGCTGCGGAGGCCGCGTGTC	0.483000																								0							SO:0001583	missense			ENST00000521978.1	1	1	hg19	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223292	0.95139	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000007	T	0.62319	0.2418	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67003	-0.5780	10	0.87932	D	0	-14.7865	20.0804	0.97772	0.0:0.0:1.0:0.0	.	145	Q86UR5	RIMS1_HUMAN	R	145	ENSP00000430101:G145R;ENSP00000275037:G145R;ENSP00000264839:G145R;ENSP00000429959:G145R;ENSP00000430408:G145R;ENSP00000430502:G145R;ENSP00000430932:G145R;ENSP00000428417:G145R	ENSP00000264839:G145R	G	+	1	0	RIMS1	72863560	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.773000	0.98989	2.738000	0.93877	0.655000	0.94253	GGC		TCGA-M8-A5N4-01A-11D-A26I-08	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1	1	0	1	35	217	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1.000000	35	216	0	32	2		0	0	0	0	32	2	-3.321823	1	1	0	0		1	0	0	0	1.920782	0	0.350000	1.800000	0.295775	0.720000	0.520000	0.960000	0.730000	0.739693	0.720000	0	6.200000e-01	8.500000e-01
SPAM1	6677	broad.mit.edu	37	7	123593723	123593723	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:123593723C>T	ENST00000439500.1	+	4	712	c.99C>T	c.(97-99)tgC>tgT	p.C33C	SPAM1_ENST00000223028.7_Silent_p.C33C|SPAM1_ENST00000460182.1_Silent_p.C33C|SPAM1_ENST00000340011.5_Silent_p.C33C|SPAM1_ENST00000402183.2_Silent_p.C33C	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)			46					TTCCATGTTGCTTGACTCTGA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000439500.1	1	1	hg19	CCDS5791.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1	1	0	1	55	237	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	1.000000	54	237	0	20	2		0	0	0	0	20	2	-20.000000	1	1	0	0		1	1	2	3	2.110087	0	0.350000	1.800000	0.356754	0.990000	0.840000	1.000000	1.000000	0.983256	0.990000	1	9.600000e-01	1
SLC13A4	26266	broad.mit.edu	37	7	135392895	135392895	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:135392895C>T	ENST00000354042.4	-	3	1021	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4			24					CAAGACCATGCGCAGAGCAAT	0.592000																								0							SO:0001583	missense			ENST00000354042.4	1	1	hg19	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622414	0.96660	.	.	ENSG00000164707	ENST00000354042	T	0.02974	4.09	5.07	5.07	0.68467	.	0.055341	0.64402	D	0.000001	T	0.12263	0.0298	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00182	-1.1946	10	0.87932	D	0	.	15.9821	0.80116	0.0:1.0:0.0:0.0	.	111	Q9UKG4	S13A4_HUMAN	H	111	ENSP00000297282:R111H	ENSP00000297282:R111H	R	-	2	0	SLC13A4	135043435	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.688000	0.61715	2.639000	0.89480	0.561000	0.74099	CGC		TCGA-M8-A5N4-01A-11D-A26I-08	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	1	0	1	176	739	0	106	0	0	0	1	0	106	2		0	0	0	0	0	2	1	1.000000	176	732	0	106	2		0	0	0	0	106	2	-20.000000	1	1	0	0		1	1	2	3	2.099380	0	0.350000	1.800000	0.355638	0.990000	0.960000	1.000000	1.000000	0.997954	0.990000	1	9.900000e-01	1
C7orf33	202865	broad.mit.edu	37	7	148288176	148288176	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:148288176C>T	ENST00000307003.2	+	1	520	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	p.G53G(1)		14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)		ACGTTAGGGGCGGTCCAGGTC	0.512000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000307003.2	1	1	hg19	CCDS5890.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	1	0	1	85	505	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1.000000	83	499	0	65	2		0	0	0	0	65	2	-2.473802	0	1	121412	2	33	1	1	2	3	2.091214	0	0.350000	1.800000	0.354518	0.820000	0.670000	1.000000	0.830000	0.837217	0.820000	0	7.400000e-01	9.300000e-01
SLC29A4	222962	broad.mit.edu	37	7	5330780	5330780	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:5330780C>T	ENST00000396872.3	+	4	488	c.327C>T	c.(325-327)agC>agT	p.S109S	SLC29A4_ENST00000297195.4_Silent_p.S109S|SLC29A4_ENST00000406453.3_Silent_p.S109S			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4			20		Ovarian(82;0.0175)		Metformin(DB00331)	TTGACATGAGCCTCACCTACA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000396872.3	1	1	hg19	CCDS5340.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	1	0	1	39	296	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1.000000	38	292	0	46	2		0	0	0	0	46	2	-20.000000	1	1	0	0		1	1	2	3	2.103402	0	0.350000	1.800000	0.355638	0.670000	0.490000	1.000000	0.670000	0.692557	0.670000	0	5.700000e-01	8.000000e-01
ICA1	3382	broad.mit.edu	37	7	8258081	8258081	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:8258081G>A	ENST00000402384.3	-	6	699	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	ICA1_ENST00000422063.2_Missense_Mutation_p.R145W|ICA1_ENST00000396675.3_Missense_Mutation_p.R145W|ICA1_ENST00000406470.2_Missense_Mutation_p.R145W|ICA1_ENST00000407906.1_Missense_Mutation_p.R145W|ICA1_ENST00000476942.1_5'UTR|ICA1_ENST00000401396.1_Missense_Mutation_p.R133W|ICA1_ENST00000265577.7_Missense_Mutation_p.R144W			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa			23		Ovarian(82;0.0612)			GCCCGATGCCGAAAAGTCTCC	0.483000																								0							SO:0001583	missense			ENST00000402384.3	1	1	hg19	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284344	0.80803	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367;ENST00000447326	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.82	4.92	0.64577	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	M	0.64567	1.98	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	0.976;0.999;0.98;1.0;0.97;1.0	D	0.86066	0.1535	10	0.51188	T	0.08	-16.4668	13.94	0.64048	0.0:0.0:0.6576:0.3423	.	145;145;144;133;145;133	B3FTQ2;E7ENI6;Q96HG3;B9ZVM7;Q05084;E9PDL4	.;.;.;.;ICA69_HUMAN;.	W	145;145;144;145;133;145;145;133;145	ENSP00000385570:R145W;ENSP00000385651:R145W;ENSP00000265577:R144W;ENSP00000379908:R145W;ENSP00000385305:R133W;ENSP00000403982:R145W;ENSP00000386021:R145W;ENSP00000316074:R133W;ENSP00000398435:R145W	ENSP00000265577:R144W	R	-	1	2	ICA1	8224606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.099000	0.57755	1.397000	0.46682	0.655000	0.94253	CGG		TCGA-M8-A5N4-01A-11D-A26I-08	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	0	0	1	68	344	0	48	1	9.999085e-01	28	43	0	48	2		0	0	0	0	0	2	1	1.000000	68	340	0	48	2		0	0	0	0	48	2	-2.896757	1	1	121412	4	36	1	1	2	3	2.103402	0	0.350000	1.800000	0.355638	0.950000	0.750000	1.000000	1.000000	0.934863	0.950000	1	8.400000e-01	1
FRMPD1	22844	broad.mit.edu	37	9	37708488	37708488	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:37708488G>A	ENST00000539465.1	+	4	945	c.352G>A	c.(352-354)Gat>Aat	p.D118N	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D118N|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1			93					ACGAGCAGTCGATATTCTCAG	0.463000																								0							SO:0001583	missense			ENST00000539465.1	1	1	hg19	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696486	0.30142	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.38722	1.12;1.12	5.91	0.863	0.19062	PDZ/DHR/GLGF (4);	0.448448	0.27294	N	0.020031	T	0.22282	0.0537	N	0.17901	0.54	0.31784	N	0.630458	B	0.17268	0.021	B	0.15052	0.012	T	0.09228	-1.0684	10	0.33940	T	0.23	-0.9785	5.2235	0.15381	0.311:0.1378:0.5512:0.0	.	118	Q5SYB0	FRPD1_HUMAN	N	118	ENSP00000366995:D118N;ENSP00000444411:D118N	ENSP00000366995:D118N	D	+	1	0	FRMPD1	37698488	0.009000	0.17119	0.038000	0.18304	0.878000	0.50629	-0.224000	0.09164	-0.092000	0.12417	0.650000	0.86243	GAT		TCGA-M8-A5N4-01A-11D-A26I-08	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	1	0	0	72	319	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1.000000	72	319	0	31	2		0	0	0	0	31	2	-3.432222	1	1	121412	8	40	1	1	2	3	2.123207	0	0.350000	1.800000	0.358974	0.990000	0.850000	1.000000	1.000000	0.983611	0.990000	1	9.500000e-01	1
P2RY4	5030	broad.mit.edu	37	X	69478725	69478725	+	Silent	SNP	C	C	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:69478725C>A	ENST00000374519.2	-	1	929	c.750G>T	c.(748-750)gtG>gtT	p.V250V		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4			18					AGACAGTCAGCACCACAGCTA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000374519.2	1	1	hg19	CCDS14398.1																																																																																				TCGA-M8-A5N4-01A-11D-A26I-08	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	1	0	1	38	219	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1.000000	37	217	0	37	2		0	0	0	0	37	2	-20.000000	1	1	0	0		1	0	1	1			0.350000	1.800000	0.350000	0.840000	0.610000	1.000000	1.000000	0.845407	0.840000	0	7.200000e-01	9.700000e-01
