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
FZD8	8325	broad.mit.edu	37	10	35930018	35930018	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr10:35930018C>T	ENST00000374694.1	-	1	344	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8			11					CCGGCCTTGGCGCGCTCGCAC	0.682000																								0							SO:0001583	missense			ENST00000374694.1	0	1	hg19	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	20.700000	4.033182	0.755040	.	.	ENSG00000177283	ENST00000374694	T	0.56444	0.46	3.210000	3.210000	0.368540	Frizzled domain (5);	0.000000	0.64402	U	0.000002	T	0.73644	0.3613	M	0.85041	2.73	0.807220	D	1.000000	D	0.89917	1.0	D	0.81914	0.995	T	0.80103	-0.1522	10	0.72032	D	0.01	.	14.5091	0.67772	0.0:1.0:0.0:0.0	.	114	Q9H461	FZD8_HUMAN	T	114	ENSP00000363826:A114T	ENSP00000363826:A114T	A	-	1	0	FZD8	35970024	1	0.714170	1	0.803570	0.997000	0.918780	5.700000	6.831800e-01	1.821000	0.530950	0.442000	0.290100	GCC		TCGA-XD-AAUG-01A-61D-A40W-08	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	0	0	0	4	120	0	29	0	0	0	1	0	29	2		0	0	0	0	0	2	1	0.875202	4	112	0	28	2								-6.984954	1	1	0	0		1	0	1	1	1.910376	0	0.110000	1.910000	0.058201	0.530000	0.190000	0.940000	0.500000	0.556357	0.530000	0	0.330000	0.770000
TUBAL3	79861	broad.mit.edu	37	10	5443000	5443000	+	Silent	SNP	G	G	A	rs148158899		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr10:5443000G>A	ENST00000380419.3	-	2	91	c.54C>T	c.(52-54)gaC>gaT	p.D18D	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3			25					CCCAGCAGGCGTCCCCAATCT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000380419.3	1	1	hg19	CCDS7066.2																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	0	0	0	16	371	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	0.999933	15	368	0	84	2								-16.141940	1	1	121412	6	42	1	0	1	1	1.910376	0	0.110000	1.910000	0.058201	0.680000	0.410000	0.960000	0.680000	0.697017	0.680000	0	0.540000	0.850000
RPUSD4	84881	broad.mit.edu	37	11	126075456	126075456	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:126075456G>A	ENST00000298317.4	-	5	756	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	RPUSD4_ENST00000533628.1_Intron|RPUSD4_ENST00000534393.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4			17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)			CGGCTGCGCCGCACTTTCACC	0.552000																								0							SO:0001583	missense			ENST00000298317.4	0	1	hg19	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	G	18.590000	3.657801	0.675860	.	.	ENSG00000165526	ENST00000298317	T	0.14266	2.52	5.720000	5.720000	0.894690	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.191170	0.46758	D	0.000268	T	0.47340	0.1440	M	0.91140	3.18	0.807220	D	1.000000	D	0.89917	1.0	D	0.75020	0.985	T	0.56733	-0.7930	10	0.87932	D	0	-23.4884	17.0528	0.86524	0.0:0.0:1.0:0.0	.	235	Q96CM3	RUSD4_HUMAN	W	235	ENSP00000298317:R235W	ENSP00000298317:R235W	R	-	1	2	RPUSD4	125580666	1	0.714170	1.610000e-01	0.226920	0.144000	0.214510	4.765000	6.227100e-01	2.691000	0.918040	0.655000	0.942530	CGG		TCGA-XD-AAUG-01A-61D-A40W-08	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	0	0	0	6	344	1	78	0	2.894528e-02	0	31	1	78	3		0	0	0	0	0	2	0	0.021444	6	338	1	78	16								-2.304420	0	1	0	0		1	1	2	3	2.026381	0	0.110000	1.910000	0.118725	0.360000	0.140000	1.000000	0.310000	0.446779	0.360000	0	0.230000	0.660000
OR5P3	120066	broad.mit.edu	37	11	7847156	7847156	+	Missense_Mutation	SNP	G	G	A	rs117218570	by1000genomes	TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:7847156G>A	ENST00000328375.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3			15					GCCACATAGCGATCATAGGCC	0.557000																								0							SO:0001583	missense			ENST00000328375.1	1	1	hg19	CCDS7783.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.150000	1.851091	0.326990	.	.	ENSG00000182334	ENST00000328375	T	0.77358	-1.09	5.280000	2.270000	0.284620	GPCR, rhodopsin-like superfamily (1);	0.495306	0.17510	N	0.171680	T	0.71829	0.3386	M	0.77712	2.385	0.409070	D	0.984205	P	0.41345	0.746	B	0.34138	0.176	T	0.72846	-0.4169	10	0.72032	D	0.01	-18.8109	6.7708	0.23593	0.1574:0.0:0.701:0.1415	.	122	Q8WZ94	OR5P3_HUMAN	C	122	ENSP00000332068:R122C	ENSP00000332068:R122C	R	-	1	0	OR5P3	7803732	9.990000e-01	0.422020	9.950000e-01	0.509660	0.176000	0.229530	1.895000	3.977800e-01	0.816000	0.344210	0.644000	0.839320	CGC		TCGA-XD-AAUG-01A-61D-A40W-08	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	1	0	0	30	377	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1.000000	29	373	0	47	2								-8.638846	1	1	121344	2	38	1	1	2	3	2.026381	0	0.110000	1.910000	0.118725	0.990000	0.940000	1.000000	1.000000	0.996767	0.990000	1	0.990000	1.000000
PLEKHA5	54477	broad.mit.edu	37	12	19511180	19511180	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:19511180G>A	ENST00000299275.6	+	21	2665	c.2659G>A	c.(2659-2661)Gtg>Atg	p.V887M	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.V876M|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.V1053M|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.V950M|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.V869M|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.V945M|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.V645M|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.V945M|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.V831M	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5			35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)				AAGAAGTGCAGTGGAACAGCT	0.373000													Pancreas(196;329 2193 11246 14234 19524)											0							SO:0001583	missense			ENST00000299275.6	1	1	hg19	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	20.600000	4.019709	0.752750	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.29917	2.9;2.9;1.55;2.9;2.9;2.9;2.9;2.9;2.9;2.9;1.55	5.360000	5.360000	0.768440	.	0.130140	0.51477	D	0.000083	T	0.52517	0.1739	L	0.50919	1.6	0.458830	D	0.998737	D;D;D;D;D;D;P;D	0.89917	0.998;0.958;0.964;0.998;1.0;1.0;0.93;0.958	D;P;P;D;D;D;P;P	0.91635	0.994;0.793;0.625;0.938;0.999;0.99;0.625;0.793	T	0.48843	-0.8999	10	0.59425	D	0.04	-18.2607	19.3318	0.94293	0.0:0.0:1.0:0.0	.	950;869;876;1048;831;1053;887;945	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	M	950;945;831;1049;1053;887;645;945;876;869;842;168	ENSP00000325155:V950M;ENSP00000347560:V945M;ENSP00000352104:V831M;ENSP00000404296:V1053M;ENSP00000299275:V887M;ENSP00000440611:V645M;ENSP00000439673:V945M;ENSP00000400411:V876M;ENSP00000439837:V869M;ENSP00000440371:V842M;ENSP00000443553:V168M	ENSP00000299275:V887M	V	+	1	0	PLEKHA5	19402447	1	0.714170	9.890000e-01	0.466690	0.826000	0.467500	6.847000	7.540400e-01	2.805000	0.965240	0.551000	0.689100	GTG		TCGA-XD-AAUG-01A-61D-A40W-08	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	1	0	0	7	136	0	34	1	6.046649e-01	3	36	0	34	2		0	0	0	0	0	2	1	0.980482	7	134	0	33	2								-10.480900	1	1	0	0		1	0	1	1	1.998467	0	0.110000	1.910000	0.102596	0.890000	0.400000	1.000000	1.000000	0.836068	0.890000	1	0.610000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	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	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.200000	4.808637	0.907070	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.807220	D	1.000000	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	0.714170	1	0.803570	0.998000	0.957120	7.743000	8.502000e-01	2.668000	0.907890	0.563000	0.778840	GGT		TCGA-XD-AAUG-01A-61D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	8	181	0	69	1	9.641019e-02	2	7	0	69	2	1	9.997017e-01	21	354	0	277	2	1	0.988903	7	178	0	69	2								-4.239150	1	1	0	0		1	0	1	1	1.998467	0	0.110000	1.910000	0.102596	0.770000	0.370000	1.000000	1.000000	0.769969	0.770000	0	0.540000	1.000000
DGKH	160851	broad.mit.edu	37	13	42761256	42761256	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr13:42761256C>T	ENST00000337343.4	+	14	1631	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	DGKH_ENST00000540693.1_Missense_Mutation_p.A537V|DGKH_ENST00000261491.5_Missense_Mutation_p.A537V|DGKH_ENST00000379274.2_Missense_Mutation_p.A401V|DGKH_ENST00000536612.1_Missense_Mutation_p.A401V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.A292V	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta			43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)			TTGGAAAATGCCGTTGTAGCT	0.418000																								0							SO:0001583	missense			ENST00000337343.4	0	1	hg19	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	8.110000	0.778622	0.161200	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.80033	-1.33;-1.16;-1.33;-1.33;-1.33;1.91	5.810000	4.930000	0.648220	.	0.765669	0.12250	N	0.485721	T	0.76162	0.3949	L	0.34521	1.04	0.093100	N	1.000000	B;B;B;B	0.20261	0.003;0.003;0.043;0.001	B;B;B;B	0.23852	0.008;0.006;0.049;0.004	T	0.65348	-0.6190	10	0.45353	T	0.12	.	18.5402	0.91024	0.0:0.8731:0.1269:0.0	.	292;401;537;537	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	V	537;537;537;401;401;292	ENSP00000440823:A537V;ENSP00000337572:A537V;ENSP00000261491:A537V;ENSP00000368576:A401V;ENSP00000445114:A401V;ENSP00000441308:A292V	ENSP00000261491:A537V	A	+	2	0	DGKH	41659256	1.700000e-02	0.183380	7.000000e-03	0.137880	0.053000	0.150950	2.639000	4.657000e-01	2.746000	0.941840	0.655000	0.942530	GCC		TCGA-XD-AAUG-01A-61D-A40W-08	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	0	0	0	5	414	0	81	0	4.661293e-03	0	7	0	81	2		0	0	0	0	0	2	1	0.935907	5	409	0	80	2								-1.644361	0	1	0	0		1	1	2	3	2.023412	0	0.110000	1.910000	0.117764	0.250000	0.090000	1.000000	0.220000	0.350202	0.250000	0	0.150000	0.470000
ZKSCAN2	342357	broad.mit.edu	37	16	25255452	25255452	+	Silent	SNP	C	C	G			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:25255452C>G	ENST00000328086.7	-	6	2438	c.1635G>C	c.(1633-1635)cgG>cgC	p.R545R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2			36					GTTCTGGTGTCCGGAGGAAGC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000328086.7	1	1	hg19	CCDS32410.1																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	0	0	0	14	522	0	169	0	8.245723e-04	0	2	0	169	2		0	0	0	0	0	2	1	0.999728	14	514	0	165	2								-11.981070	1	1	0	0		1	1	2	3	2.029752	0	0.110000	1.910000	0.119204	0.510000	0.280000	1.000000	0.480000	0.577103	0.510000	0	0.380000	0.810000
COL1A1	1277	broad.mit.edu	37	17	48273888	48273888	+	Splice_Site	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:48273888C>T	ENST00000225964.5	-	13	978	c.860G>A	c.(859-861)gGt>gAt	p.G287D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1		COL1A1/PDGFB(429)	71				Collagenase(DB00048)	GCCAGGCTCACCCTGTAGATC	0.547000			T	PDGFB, USP6	dermatofibrosarcoma protuberans, aneurysmal bone cyst 		Osteogenesis imperfecta								Dom	yes		17	17q21.31-q22	1277	collagen, type I, alpha 1	yes	M	0							SO:0001630	splice_region_variant			ENST00000225964.5	1	0	hg19	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	20.200000	3.951442	0.737870	.	.	ENSG00000108821	ENST00000225964	D	0.99353	-5.77	5.050000	5.050000	0.679360	.	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	H	0.98883	4.36	0.807220	D	1.000000	D	0.76494	0.999	D	0.97110	1.0	D	0.97059	0.9769	10	0.87932	D	0	.	17.1838	0.86861	0.0:1.0:0.0:0.0	.	287	P02452	CO1A1_HUMAN	D	287	ENSP00000225964:G287D	ENSP00000225964:G287D	G	-	2	0	COL1A1	45628887	1	0.714170	1	0.803570	0.850000	0.483780	6.001000	7.068500e-01	2.353000	0.798820	0.491000	0.489740	GGT		TCGA-XD-AAUG-01A-61D-A40W-08	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2	1	0	0	43	625	0	120	1	1	3	7780	0	120	2		0	0	0	0	0	2	1	1.000000	42	616	0	117	2								-8.611195	1	1	0	0		1	1	2	3	2.011425	0	0.110000	1.910000	0.115352	0.990000	0.870000	1.000000	1.000000	0.990664	0.990000	1	0.990000	1.000000
SDK2	54549	broad.mit.edu	37	17	71390417	71390417	+	Silent	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:71390417G>T	ENST00000392650.3	-	26	3639	c.3639C>A	c.(3637-3639)tcC>tcA	p.S1213S	SDK2_ENST00000388726.3_Silent_p.S1213S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2			86					GCATGCTGCTGGAGGTGGTGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000392650.3	0	1	hg19	CCDS45769.1																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	0	0	0	4	101	0	14	0	2.596054e-03	0	2	0	14	2	0	9.999224e-01	0	866	0	664	2	0	0.872122	0	97	0	14	2								-7.167801	1	0	0	0		1	1	2	3	2.011425	0	0.110000	1.910000	0.115352	0.780000	0.260000	1.000000	1.000000	0.753192	0.780000	0	0.470000	1.000000
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:7578469C>A	ENST00000269305.4	-	5	650	c.461G>T	c.(460-462)gGc>gTc	p.G154V	TP53_ENST00000445888.2_Missense_Mutation_p.G154V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000420246.2_Missense_Mutation_p.G154V|TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V	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.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GACGCGGGTGCCGGGCGGGGG	0.607000		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	98	Substitution - Missense(62)|Deletion - Frameshift(14)|Whole gene deletion(8)|Insertion - In frame(5)|Unknown(5)|Deletion - In frame(4)	GRCh37	CM951223	TP53	M		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	14.170000	2.456171	0.436340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.590000	3.610000	0.413650	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.158634	0.56097	D	0.000036	D	0.99859	0.9934	M	0.86178	2.8	0.807220	D	1.000000	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.991;0.998;0.999;0.998;1.0	D;D;P;D;D;D;D	0.79108	0.987;0.984;0.848;0.983;0.992;0.988;0.988	D	0.97051	0.9764	10	0.87932	D	0	-10.7989	10.689	0.45860	0.0:0.8432:0.0:0.1568	.	115;154;154;61;154;154;154	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	154;154;154;154;154;154;143;61;22;61;22;154	ENSP00000410739:G154V;ENSP00000352610:G154V;ENSP00000269305:G154V;ENSP00000398846:G154V;ENSP00000391127:G154V;ENSP00000391478:G154V;ENSP00000425104:G22V;ENSP00000423862:G61V;ENSP00000424104:G154V	ENSP00000269305:G154V	G	-	2	0	TP53	7519194	9.900000e-01	0.363640	2.000000e-03	0.105220	0.006000	0.054640	4.029000	5.725300e-01	0.850000	0.352390	-0.140000	0.142260	GGC		TCGA-XD-AAUG-01A-61D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	15	252	0	51	0	5.447620e-01	0	31	0	51	2	1	1	105	1471	0	1285	2	1	0.999871	14	249	0	50	2								-17.424750	1	1	0	0		1	0	1	1	1.915970	0	0.110000	1.910000	0.069573	0.910000	0.550000	1.000000	1.000000	0.878283	0.910000	1	0.720000	1.000000
ME2	4200	broad.mit.edu	37	18	48447031	48447031	+	Splice_Site	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr18:48447031G>A	ENST00000321341.5	+	9	1117	c.845G>A	c.(844-846)gGg>gAg	p.G282E	ME2_ENST00000382927.3_Splice_Site_p.G282E	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial			23		Colorectal(6;0.0273)|all_epithelial(6;0.118)			TTTCTTACAGGGACAGCTGCA	0.348000																								0							SO:0001630	splice_region_variant			ENST00000321341.5	1	0	hg19	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	G	19.930000	3.918676	0.730980	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.78246	-1.16;-1.16	5.730000	5.730000	0.898150	Malic enzyme, conserved site (1);Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	H	0.97732	4.065	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94857	0.8018	9	.	.	.	.	18.6849	0.91559	0.0:0.0:1.0:0.0	.	282;282	Q9BWL6;P23368	.;MAOM_HUMAN	E	282	ENSP00000321070:G282E;ENSP00000372384:G282E	.	G	+	2	0	ME2	46701029	1	0.714170	9.960000e-01	0.522420	0.392000	0.305060	9.833000	9.942600e-01	2.719000	0.930260	0.637000	0.834800	GGG		TCGA-XD-AAUG-01A-61D-A40W-08	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	1	0	0	19	327	0	106	0	4.767204e-01	0	28	0	106	2		0	0	0	0	0	2	1	0.999991	19	324	0	104	2								-2.560351	1	1	0	0		1	0	0	0	1.943188	0	0.110000	1.910000	0.074363	0.930000	0.590000	1.000000	1.000000	0.893399	0.930000	1	0.750000	1.000000
ME2	4200	broad.mit.edu	37	18	48447459	48447459	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr18:48447459G>A	ENST00000321341.5	+	10	1230	c.958G>A	c.(958-960)Gca>Aca	p.A320T	ME2_ENST00000382927.3_Missense_Mutation_p.A320T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial			23		Colorectal(6;0.0273)|all_epithelial(6;0.118)			TCTTGGAATTGCAAATCTTAT	0.313000																								0							SO:0001583	missense			ENST00000321341.5	1	1	hg19	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	G	26.300000	4.728962	0.893900	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.34667	1.35;1.35	5.920000	5.040000	0.676660	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.098582	0.64402	D	0.000001	T	0.60996	0.2312	M	0.74258	2.255	0.807220	D	1.000000	D;D	0.89917	0.999;1.0	D;D	0.91635	0.926;0.999	T	0.66360	-0.5943	10	0.87932	D	0	-21.3568	15.3065	0.73995	0.0:0.0:0.8586:0.1414	.	320;320	Q9BWL6;P23368	.;MAOM_HUMAN	T	320	ENSP00000321070:A320T;ENSP00000372384:A320T	ENSP00000321070:A320T	A	+	1	0	ME2	46701457	1	0.714170	1	0.803570	0.996000	0.888480	9.841000	9.948200e-01	1.487000	0.484150	0.650000	0.862430	GCA		TCGA-XD-AAUG-01A-61D-A40W-08	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	1	0	0	10	182	0	34	0	5.463469e-01	0	33	0	34	2		0	0	0	0	0	2	1	0.996955	10	180	0	33	2								-4.411881	1	1	0	0		1	0	0	0	1.943188	0	0.110000	1.910000	0.074363	0.870000	0.460000	1.000000	1.000000	0.838360	0.870000	1	0.640000	1.000000
CC2D1A	54862	broad.mit.edu	37	19	14034184	14034184	+	Silent	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:14034184G>T	ENST00000318003.7	+	15	1921	c.1680G>T	c.(1678-1680)ctG>ctT	p.L560L	CC2D1A_ENST00000589606.1_Silent_p.L560L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A			27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		ACTTTGCCCTGGTCCAGCGGC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000318003.7	0	1	hg19	CCDS42512.1																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	0	0	0	6	466	0	81	0	9.478025e-02	0	34	0	81	2		0	0	0	0	0	2	1	0.961281	6	450	0	80	2								-3.139629	1	1	0	0		1	0	1	1	2.006854	0	0.110000	1.910000	0.104087	0.240000	0.090000	0.470000	0.230000	0.261880	0.240000	0	0.160000	0.350000
ANO8	57719	broad.mit.edu	37	19	17436170	17436170	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:17436170C>T	ENST00000159087.4	-	17	2845	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8			27					CTGCTGGTAGCGATGCTGGGC	0.647000																								0							SO:0001583	missense			ENST00000159087.4	0	1	hg19	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	8.172000	0.791995	0.162580	.	.	ENSG00000074855	ENST00000159087	T	0.60299	0.2	4.700000	3.600000	0.412470	.	0.246536	0.41294	N	0.000902	T	0.21022	0.0506	N	0.01352	-0.895	0.357340	D	0.818185	B	0.10296	0.003	B	0.04013	0.001	T	0.17107	-1.0380	10	0.06757	T	0.87	.	5.7143	0.17952	0.0:0.6669:0.0:0.3331	.	896	Q9HCE9	ANO8_HUMAN	H	896	ENSP00000159087:R896H	ENSP00000159087:R896H	R	-	2	0	ANO8	17297170	1	0.714170	1	0.803570	0.839000	0.476030	2.117000	4.193900e-01	0.891000	0.362350	0.491000	0.489740	CGC		TCGA-XD-AAUG-01A-61D-A40W-08	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	0	0	0	5	185	0	28	0	5.712201e-02	0	12	0	28	2		0	0	0	0	0	2	1	0.935741	5	182	0	28	2								-6.931877	1	0	120850	8	36	1	0	1	1	2.006854	0	0.110000	1.910000	0.104087	0.500000	0.190000	0.980000	1.000000	0.534984	0.500000	0	0.320000	0.740000
ZNF222	7673	broad.mit.edu	37	19	44536890	44536890	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:44536890G>A	ENST00000187879.8	+	4	1225	c.1063G>A	c.(1063-1065)Ggt>Agt	p.G355S	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.G395S	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222			20		Prostate(69;0.0435)			TAGTAAGTCAGGTCTTGACTT	0.428000																								0							SO:0001583	missense			ENST00000187879.8	0	1	hg19	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	G	5.333000	0.246710	0.101300	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.07216	3.21;3.21	2.790000	-5.580000	0.025120	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	N	0.00599	-1.345	0.093100	N	1.000000	P;P	0.41345	0.746;0.571	P;B	0.44518	0.452;0.403	T	0.09250	-1.0683	9	0.02654	T	1	.	2.5051	0.04643	0.1309:0.3914:0.2764:0.2013	.	395;355	G5E9B9;Q9UK12	.;ZN222_HUMAN	S	395;355;301	ENSP00000375822:G395S;ENSP00000187879:G355S	ENSP00000187879:G355S	G	+	1	0	ZNF222	49228730	0	0.058580	0	0.037020	0.761000	0.431860	-9.786000	9.000000e-05	-2.800000	0.003520	0.205000	0.176910	GGT		TCGA-XD-AAUG-01A-61D-A40W-08	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2	0	0	0	6	450	0	99	0	3.792324e-03	0	6	0	99	2		0	0	0	0	0	2	1	0.963492	6	443	0	99	2								-3.016398	1	1	0	0		1	1	2	3	2.016003	0	0.110000	1.910000	0.116318	0.270000	0.100000	1.000000	0.240000	0.350765	0.270000	0	0.170000	0.450000
FPR1	2357	broad.mit.edu	37	19	52249834	52249834	+	Silent	SNP	G	G	A	rs151277630	byFrequency	TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:52249834G>A	ENST00000595042.1	-	3	555	c.414C>T	c.(412-414)acC>acT	p.T138T	FPR1_ENST00000304748.4_Silent_p.T138T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1			20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		Nedocromil(DB00716)	CCAGGCTCACGGTGCGGTGGT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000595042.1	1	1	hg19	CCDS12839.1																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	1	0	0	21	287	0	68	0	9.688390e-01	1	79	0	68	2		0	0	0	0	0	2	1	0.999997	21	275	0	64	2								-2.879548	1	1	121412	7	41	1	1	2	3	2.016003	0	0.110000	1.910000	0.116318	0.990000	0.810000	1.000000	1.000000	0.985620	0.990000	1	0.990000	1.000000
SPTA1	6708	broad.mit.edu	37	1	158636124	158636124	+	Silent	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:158636124C>T	ENST00000368147.4	-	16	2382	c.2202G>A	c.(2200-2202)tcG>tcA	p.S734S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				CAGCCACAGCCGACTCCAGGA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000368147.4	0	1	hg19	CCDS41423.1																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	0	9	173	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	0.994146	8	171	0	21	2								-11.818510	1	1	0	0		1	0	0	0	1.987002	0	0.110000	1.910000	0.095069	0.880000	0.440000	1.000000	1.000000	0.841821	0.880000	1	0.630000	1.000000
SPEN	23013	broad.mit.edu	37	1	16259754	16259754	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:16259754G>A	ENST00000375759.3	+	11	7223	c.7019G>A	c.(7018-7020)cGc>cAc	p.R2340H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	p.R2340H(1)		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)			CGATCACGCCGCAAGCGAAAC	0.512000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000375759.3	0	1	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	11.460000	1.645247	0.292460	.	.	ENSG00000065526	ENST00000375759	T	0.12255	2.7	4.840000	4.840000	0.625910	.	.	.	.	.	T	0.34687	0.0906	L	0.58101	1.795	0.436030	D	0.995968	D	0.71674	0.998	D	0.72075	0.976	T	0.05007	-1.0912	9	0.51188	T	0.08	-10.6068	17.9293	0.88992	0.0:0.0:1.0:0.0	.	2340	Q96T58	MINT_HUMAN	H	2340	ENSP00000364912:R2340H	ENSP00000364912:R2340H	R	+	2	0	SPEN	16132341	1	0.714170	1	0.803570	0.166000	0.225030	5.201000	6.516300e-01	2.222000	0.722860	0.462000	0.415740	CGC		TCGA-XD-AAUG-01A-61D-A40W-08	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	0	0	0	5	265	0	40	0	8.315031e-02	0	21	0	40	2		0	0	0	0	0	2	1	0.931718	6	254	0	37	2								-2.819886	1	1	121410	1	36	1	1	2	3	2.015719	0	0.110000	1.910000	0.116318	0.390000	0.140000	1.000000	0.330000	0.455781	0.390000	0	0.240000	0.660000
SLC2A7	155184	broad.mit.edu	37	1	9067394	9067394	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:9067394G>A	ENST00000400906.1	-	10	1166	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7			24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)			GTCCCGCGATGTAGGCAAAGA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000400906.1	0	1	hg19	CCDS98.2																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	0	0	0	7	251	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	0.979631	7	246	0	31	2								-8.049725	1	1	0	0		1	1	2	3	2.015719	0	0.110000	1.910000	0.116318	0.540000	0.230000	1.000000	0.480000	0.592256	0.540000	0	0.360000	0.860000
FOXS1	2307	broad.mit.edu	37	20	30432696	30432696	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:30432696G>T	ENST00000375978.3	-	1	724	c.650C>A	c.(649-651)gCg>gAg	p.A217E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1			9					AAAGCCAAACGCTGGGCATGA	0.617000																								0							SO:0001583	missense			ENST00000375978.3	1	1	hg19	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	8.593000	0.884991	0.175400	.	.	ENSG00000179772	ENST00000375978	D	0.93133	-3.17	4.540000	2.600000	0.311120	.	0.701110	0.12224	N	0.488074	D	0.90765	0.7101	L	0.27053	0.805	0.227620	N	0.998769	P	0.50710	0.938	P	0.50970	0.655	T	0.82468	-0.0442	10	0.56958	D	0.05	.	9.7513	0.40477	0.1708:0.0:0.8292:0.0	.	217	O43638	FOXS1_HUMAN	E	217	ENSP00000365145:A217E	ENSP00000365145:A217E	A	-	2	0	FOXS1	29896357	7.020000e-01	0.278160	3.960000e-01	0.262960	0.110000	0.195820	1.762000	3.845100e-01	0.554000	0.290610	-1.252000	0.015010	GCG		TCGA-XD-AAUG-01A-61D-A40W-08	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	1	0	0	20	247	0	39	0	5.343330e-01	0	23	0	39	2		0	0	0	0	0	2	1	0.999995	20	240	0	37	2								-7.453443	1	1	0	0		1	1	2	3	2.026833	0	0.110000	1.910000	0.118725	0.990000	0.880000	1.000000	1.000000	0.993418	0.990000	1	0.990000	1.000000
ACR	49	broad.mit.edu	37	22	51177896	51177896	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr22:51177896G>A	ENST00000216139.5	+	2	315	c.275G>A	c.(274-276)gGc>gAc	p.G92D	AC000036.4_ENST00000449652.1_RNA|AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000529621.1_Missense_Mutation_p.G92D	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin			7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			TGCTTCGTCGGCAAAAAGTAC	0.577000																								0							SO:0001583	missense			ENST00000216139.5	0	1	hg19	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	G	1.906000	-0.451991	0.045400	.	.	ENSG00000100312	ENST00000216139;ENST00000529621	D;D	0.88586	-2.4;-2.4	3.900000	-7.790000	0.012180	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	3.666060	0.01180	N	0.007063	T	0.69223	0.3087	N	0.05414	-0.055	0.093100	N	1.000000	B;B	0.14012	0.001;0.009	B;B	0.16722	0.007;0.016	T	0.68659	-0.5350	10	0.08179	T	0.78	-0.0143	0.5119	0.00597	0.3086:0.2319:0.2598:0.1997	.	92;92	E9PLV5;P10323	.;ACRO_HUMAN	D	92	ENSP00000216139:G92D;ENSP00000435120:G92D	ENSP00000216139:G92D	G	+	2	0	ACR	49524762	0	0.058580	0	0.037020	0.018000	0.096640	-1.692000	1.918000e-02	-2.104000	0.008430	0.462000	0.415740	GGC		TCGA-XD-AAUG-01A-61D-A40W-08	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	0	0	0	4	119	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	0.887720	4	117	0	30	2								-3.011819	1	1	0	0		1	0	0	0	1.976713	0	0.110000	1.910000	0.089980	0.600000	0.210000	1.000000	1.000000	0.630403	0.600000	0	0.370000	0.910000
TBC1D8	11138	broad.mit.edu	37	2	101666884	101666884	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:101666884T>A	ENST00000376840.4	-	5	805	c.806A>T	c.(805-807)gAg>gTg	p.E269V	TBC1D8_ENST00000409318.1_Missense_Mutation_p.E284V			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)			32					CTGGCTCGGCTCCTGCAGATC	0.562000																								0							SO:0001583	missense			ENST00000376840.4	1	1	hg19	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	T	21.500000	4.165069	0.783390	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03441	3.93;3.95	5.370000	5.370000	0.771650	.	0.170745	0.41097	D	0.000946	T	0.04182	0.0116	N	0.14661	0.345	0.468490	D	0.999228	P;P	0.40794	0.59;0.729	B;B	0.42771	0.157;0.397	T	0.55573	-0.8120	10	0.56958	D	0.05	-29.5755	15.3821	0.74664	0.0:0.0:0.0:1.0	.	284;269	B7Z6L4;O95759	.;TBCD8_HUMAN	V	269;284	ENSP00000366036:E269V;ENSP00000386856:E284V	ENSP00000366036:E269V	E	-	2	0	TBC1D8	101033316	1	0.714170	1	0.803570	0.651000	0.386700	5.995000	7.063100e-01	2.032000	0.599870	0.459000	0.354650	GAG		TCGA-XD-AAUG-01A-61D-A40W-08	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	1	0	0	14	188	0	43	1	7.284103e-01	2	34	0	43	2		0	0	0	0	0	2	1	0.999764	13	186	0	40	2								-18.705370	1	1	0	0		1	1	2	3	2.018103	0	0.110000	1.910000	0.116801	0.990000	0.740000	1.000000	1.000000	0.978534	0.990000	1	0.990000	1.000000
POTEF	728378	broad.mit.edu	37	2	130877733	130877733	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:130877733G>A	ENST00000409914.2	-	3	755	c.356C>T	c.(355-357)gCt>gTt	p.A119V	POTEF_ENST00000357462.5_Missense_Mutation_p.A119V|POTEF_ENST00000361163.4_Missense_Mutation_p.A119V|POTEF_ENST00000360967.5_Missense_Mutation_p.A119V	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F			53					GTCTCCCCAAGCGCCCACCTT	0.587000																								0							SO:0001583	missense			ENST00000409914.2	1	1	hg19	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	6.231000	0.410709	0.118120	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77098	-1.07;-1.07;1.76;1.68	0.409000	-0.759000	0.110450	.	.	.	.	.	T	0.65770	0.2723	L	0.43152	1.355	0.093100	N	1.000000	B	0.17667	0.023	B	0.13407	0.009	T	0.55347	-0.8155	8	0.87932	D	0	.	.	.	.	.	119	A5A3E0	POTEF_HUMAN	V	119	ENSP00000350052:A119V;ENSP00000386786:A119V;ENSP00000354232:A119V;ENSP00000355012:A119V	ENSP00000350052:A119V	A	-	2	0	POTEF	130594203	6.000000e-03	0.163420	0	0.037020	0.003000	0.035180	-0.039000	1.212400e-01	-0.439000	0.072220	0.173000	0.169610	GCT		TCGA-XD-AAUG-01A-61D-A40W-08	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	1	0	0	31	590	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1.000000	30	549	0	124	2								-20.000000	1	1	0	0		1	1	2	3	2.018103	0	0.110000	1.910000	0.116801	0.940000	0.640000	1.000000	1.000000	0.905634	0.940000	1	0.770000	1.000000
OSBPL6	114880	broad.mit.edu	37	2	179197717	179197717	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:179197717G>A	ENST00000190611.4	+	8	982	c.606G>A	c.(604-606)acG>acA	p.T202T	OSBPL6_ENST00000315022.2_Silent_p.T181T|OSBPL6_ENST00000409631.1_Silent_p.T202T|OSBPL6_ENST00000392505.2_Silent_p.T202T|OSBPL6_ENST00000409045.3_Silent_p.T202T|OSBPL6_ENST00000359685.3_Silent_p.T202T|OSBPL6_ENST00000357080.4_Silent_p.T202T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6			46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		TTCCTTCAACGTCCACAGCTG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000190611.4	0	1	hg19	CCDS2277.1																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	0	0	0	5	322	0	106	0	1.141842e-03	0	3	0	106	2		0	0	0	0	0	2	1	0.936486	5	319	0	105	2								-2.219843	0	1	121410	13	41	1	1	2	3	2.018103	0	0.110000	1.910000	0.116801	0.320000	0.110000	1.000000	0.280000	0.401595	0.320000	0	0.200000	0.560000
TTN	7273	broad.mit.edu	37	2	179428962	179428962	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:179428962G>A	ENST00000591111.1	-	276	77198	c.76974C>T	c.(76972-76974)atC>atT	p.I25658I	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.I24731I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.I18234I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.I27299I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.I18426I|TTN_ENST00000359218.5_Silent_p.I18359I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GTTTGCCACGGATGTCGGCTT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	0	1	hg19																																																																																					TCGA-XD-AAUG-01A-61D-A40W-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	7	673	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	0.979835	7	665	0	144	2								-2.774413	1	1	0	0		1	1	2	3	2.018103	0	0.110000	1.910000	0.116801	0.210000	0.080000	1.000000	0.190000	0.300417	0.210000	0	0.130000	0.340000
MCCC1	56922	broad.mit.edu	37	3	182733294	182733294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:182733294G>A	ENST00000265594.4	-	19	2256	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	MCCC1-AS1_ENST00000471731.2_RNA|MCCC1_ENST00000492597.1_Nonsense_Mutation_p.Q595*	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)			40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)	Biotin(DB00121)	CTGTTGGCCTGAGCACCTTCT	0.443000																								0							SO:0001587	stop_gained			ENST00000265594.4	0	1	hg19	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	39.000000	7.879796	0.985390	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616	.	.	.	5.420000	5.420000	0.788660	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.9868	0.89158	0.0:0.0:1.0:0.0	.	.	.	.	X	704;595;554	.	ENSP00000265594:Q704X	Q	-	1	0	MCCC1	184215988	1	0.714170	9.540000e-01	0.392810	0.976000	0.684990	5.982000	7.053200e-01	2.530000	0.853050	0.511000	0.500340	CAG		TCGA-XD-AAUG-01A-61D-A40W-08	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	1	0	0	51	633	0	163	0	9.633435e-01	1	67	0	163	2		0	0	0	0	0	2	1	1.000000	50	625	0	159	2								-10.754860	1	1	0	0		1	1	2	3	2.022828	0	0.110000	1.910000	0.117764	0.990000	0.990000	1.000000	1.000000	0.999399	0.990000	1	0.990000	1.000000
TRNT1	51095	broad.mit.edu	37	3	3189309	3189309	+	Silent	SNP	A	A	C			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:3189309A>C	ENST00000251607.6	+	7	1080	c.978A>C	c.(976-978)atA>atC	p.I326I	TRNT1_ENST00000280591.6_Silent_p.I306I	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1			12					GCTTATTTATAGTTAAAAATA	0.328000																								0							SO:0001819	synonymous_variant			ENST00000251607.6	0	1	hg19	CCDS2561.2																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1	0	0	0	7	316	0	63	0	7.566984e-02	0	18	0	63	2		0	0	0	0	0	2	1	0.980251	7	313	0	63	2								-7.796268	1	1	0	0		1	1	2	3	2.030809	0	0.110000	1.910000	0.119683	0.450000	0.190000	1.000000	0.380000	0.526618	0.450000	0	0.290000	0.870000
PRKCD	5580	broad.mit.edu	37	3	53223943	53223943	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:53223943C>A	ENST00000394729.2	+	17	2126	c.1798C>A	c.(1798-1800)Cac>Aac	p.H600N	PRKCD_ENST00000330452.3_Missense_Mutation_p.H600N	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta			26		Ovarian(412;0.0728)		Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CATCAAAATCCACCCCTTCTT	0.547000																								0							SO:0001583	missense			ENST00000394729.2	1	1	hg19	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	25.900000	4.683651	0.886390	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.58358	0.34;0.34	5.270000	5.270000	0.740610	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	0.78355	0.4270	M	0.93016	3.37	0.807220	D	1.000000	D	0.71674	0.998	D	0.64506	0.926	D	0.83726	0.0195	10	0.87932	D	0	.	17.8158	0.88634	0.0:1.0:0.0:0.0	.	600	Q05655	KPCD_HUMAN	N	600	ENSP00000378217:H600N;ENSP00000331602:H600N	ENSP00000331602:H600N	H	+	1	0	PRKCD	53198983	1	0.714170	9.720000e-01	0.419010	0.933000	0.571300	7.651000	8.357700e-01	2.746000	0.941840	0.561000	0.740990	CAC		TCGA-XD-AAUG-01A-61D-A40W-08	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1	0	0	0	40	1112	1	251	1	6.424684e-01	6	88	1	251	3		0	0	0	0	0	2	1	0.999300	39	1093	1	245	17								-2.733901	1	1	0	0		1	1	2	3	2.022828	0	0.110000	1.910000	0.117764	0.650000	0.460000	1.000000	0.630000	0.691732	0.650000	0	0.550000	0.830000
CDKN2AIP	55602	broad.mit.edu	37	4	184367721	184367721	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:184367721C>T	ENST00000504169.1	+	3	1091	c.884C>T	c.(883-885)tCc>tTc	p.S295F	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein			6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)			TTGTTGGGCTCCTCAGGAAGC	0.468000																								0							SO:0001583	missense			ENST00000504169.1	1	1	hg19	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	12.070000	1.827967	0.323290	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.550000	5.550000	0.834470	.	0.683218	0.14266	N	0.330508	T	0.58380	0.2118	L	0.58101	1.795	0.807220	D	1.000000	P	0.42123	0.771	B	0.39617	0.305	T	0.63457	-0.6633	9	0.72032	D	0.01	-6.0E-4	16.8133	0.85726	0.0:1.0:0.0:0.0	.	295	Q9NXV6	CARF_HUMAN	F	295	.	ENSP00000427108:S295F	S	+	2	0	CDKN2AIP	184604715	6.200000e-02	0.208690	8.640000e-01	0.339410	0.832000	0.471340	3.928000	5.650600e-01	2.885000	0.990190	0.655000	0.942530	TCC		TCGA-XD-AAUG-01A-61D-A40W-08	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	0	0	0	7	238	0	71	0	2.200020e-01	1	26	0	71	2		0	0	0	0	0	2	1	0.979582	7	233	0	69	2								-8.374646	1	1	0	0		1	1	2	3	2.029288	0	0.110000	1.910000	0.119204	0.590000	0.250000	1.000000	1.000000	0.635606	0.590000	0	0.390000	1.000000
MAP7	9053	broad.mit.edu	37	6	136681852	136681852	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:136681852G>T	ENST00000354570.3	-	13	2196	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	MAP7_ENST00000432797.2_Missense_Mutation_p.R450S|MAP7_ENST00000454590.1_Missense_Mutation_p.R618S|MAP7_ENST00000438100.2_Missense_Mutation_p.R581S|MAP7_ENST00000544465.1_Missense_Mutation_p.R581S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7			33	Colorectal(23;0.24)				CTCTCCAGGCGCTCTTGCTCT	0.542000																								0							SO:0001583	missense			ENST00000354570.3	0	1	hg19	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	15.580000	2.876311	0.518010	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.620000	5.620000	0.858410	.	0.000000	0.53938	D	0.000045	T	0.61937	0.2387	M	0.91818	3.245	0.489010	D	0.999723	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.994;0.997;0.999;1.0;0.999	T	0.70022	-0.4986	10	0.72032	D	0.01	-9.7161	14.1681	0.65490	0.0:0.0:0.8502:0.1498	.	581;618;581;618;502;559;596	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	S	596;618;581;581;450;502	ENSP00000346581:R596S;ENSP00000414712:R618S;ENSP00000445737:R581S;ENSP00000400790:R581S;ENSP00000414879:R450S	ENSP00000344217:R502S	R	-	1	0	MAP7	136723545	1	0.714170	9.980000e-01	0.565050	0.122000	0.202870	4.801000	6.253200e-01	2.660000	0.904300	0.655000	0.942530	CGC		TCGA-XD-AAUG-01A-61D-A40W-08	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	0	0	0	21	1966	0	375	1	1.109446e-01	3	48	0	375	2		0	0	0	0	0	2	1	0.999997	19	1940	0	366	2								-2.744762	1	1	0	0		1	0	0	0	1.983906	0	0.110000	1.910000	0.093040	0.180000	0.110000	0.280000	0.190000	0.196378	0.180000	0	0.140000	0.240000
AKAP12	9590	broad.mit.edu	37	6	151669953	151669953	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:151669953C>A	ENST00000253332.1	+	3	616	c.427C>A	c.(427-429)Ccc>Acc	p.P143T	AKAP12_ENST00000402676.2_Missense_Mutation_p.P143T|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000359755.5_Missense_Mutation_p.P38T|AKAP12_ENST00000354675.6_Missense_Mutation_p.P45T|AKAP12_ENST00000490177.1_3'UTR			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12			68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)		GGAGGAGACACCCGAAATAAT	0.438000													Melanoma(141;1616 1805 10049 24534 51979)											0							SO:0001583	missense			ENST00000253332.1	1	1	hg19	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	15.220000	2.770336	0.496800	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07114	3.22;3.22;3.23;3.23	5.550000	3.740000	0.429510	.	0.196693	0.25464	N	0.030494	T	0.03011	0.0089	L	0.58101	1.795	0.093100	N	0.999998	P;P;P	0.42692	0.759;0.759;0.787	B;B;B	0.35655	0.207;0.207;0.102	T	0.37314	-0.9711	10	0.30078	T	0.28	.	10.6995	0.45918	0.0:0.8402:0.0:0.1598	.	38;45;143	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	143;143;45;38	ENSP00000384537:P143T;ENSP00000253332:P143T;ENSP00000346702:P45T;ENSP00000352794:P38T	ENSP00000253332:P143T	P	+	1	0	AKAP12	151711646	1.000000e-03	0.127200	4.400000e-02	0.187140	0.005000	0.049000	0.299000	1.913800e-01	0.788000	0.337550	0.563000	0.778840	CCC		TCGA-XD-AAUG-01A-61D-A40W-08	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1	0	0	0	11	299	0	73	0	6.729510e-01	0	63	0	73	2		0	0	0	0	0	2	1	0.998382	10	299	0	73	2								-3.961872	1	1	0	0		1	0	0	0	1.983906	0	0.110000	1.910000	0.093040	0.640000	0.340000	1.000000	1.000000	0.659576	0.640000	0	0.470000	0.840000
C4A	720	broad.mit.edu	37	6	31964233	31964233	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:31964233T>C	ENST00000428956.2	+	28	3616	c.3532T>C	c.(3532-3534)Ttt>Ctt	p.F1178L	C4A_ENST00000498271.1_Missense_Mutation_p.F1178L	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)							Intravenous Immunoglobulin(DB00028)	GGCAAACTCATTTTTGGGGGA	0.607000																								0							SO:0001583	missense			ENST00000428956.2	1	1	hg19	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	t	16.230000	3.065178	0.554320	.	.	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.42513	0.97;0.97	3.470000	3.470000	0.397250	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.187132	0.47852	D	0.000213	T	0.39682	0.1087	M	0.79693	2.465	0.807220	D	1.000000	P;P	0.42649	0.786;0.786	P;P	0.47941	0.562;0.562	T	0.46359	-0.9197	10	0.72032	D	0.01	.	8.7321	0.34505	0.0:0.0:0.0:1.0	.	1178;1178	A6H8M8;P0C0L4	.;CO4A_HUMAN	L	1178	ENSP00000396688:F1178L;ENSP00000420212:F1178L	ENSP00000396688:F1178L	F	+	1	0	C4A	32072212	9.820000e-01	0.348650	7.650000e-01	0.314560	0.716000	0.411820	2.447000	4.491700e-01	1.361000	0.459810	0.338000	0.217040	TTT		TCGA-XD-AAUG-01A-61D-A40W-08	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	1	0	0	39	594	0	146	0	9.921066e-01	0	115	0	146	2		0	0	0	0	0	2	1	1.000000	38	584	0	145	2								-8.037716	1	1	0	0		1	1	4	5	2.354506	1	0.110000	1.910000	0.236052	0.990000	0.950000	1.000000	1.000000	0.996972	0.990000	1	0.990000	1.000000
DST	667	broad.mit.edu	37	6	56497706	56497706	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:56497706C>T	ENST00000361203.3	-	24	3125	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K	DST_ENST00000370788.2_Missense_Mutation_p.E1040K|DST_ENST00000421834.2_Missense_Mutation_p.E1040K|DST_ENST00000370754.5_Missense_Mutation_p.E1218K|DST_ENST00000446842.2_Missense_Mutation_p.E714K|DST_ENST00000370765.6_Missense_Mutation_p.E714K|DST_ENST00000312431.6_Missense_Mutation_p.E1040K|DST_ENST00000518935.1_Missense_Mutation_p.E714K|DST_ENST00000244364.6_Missense_Mutation_p.E714K|DST_ENST00000370769.4_Missense_Mutation_p.E1040K			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		ACATTAACCTCCTTTTCCAGT	0.378000																								0							SO:0001583	missense			ENST00000361203.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	31.000000	5.100384	0.942450	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.69926	1.48;1.48;1.48;1.48;1.48;1.48;1.48;-0.44;1.48;1.48;1.48;-0.42	5.600000	4.730000	0.599950	.	0.107851	0.40302	N	0.001138	T	0.76399	0.3982	M	0.77820	2.39	0.331730	D	0.548481	B;D;B;P;D;D;B;P	0.69078	0.012;0.997;0.012;0.948;0.995;0.995;0.012;0.57	B;D;B;P;D;D;B;B	0.73380	0.012;0.98;0.012;0.65;0.946;0.977;0.012;0.202	T	0.80553	-0.1331	9	0.54805	T	0.06	.	14.9154	0.70792	0.0:0.9309:0.0:0.0691	.	1040;1040;1218;714;714;714;1040;714	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	K	714;1218;1040;1040;714;1040;1040;1040;714;1080;714;714	ENSP00000244364:E714K;ENSP00000359790:E1218K;ENSP00000359805:E1040K;ENSP00000400883:E1040K;ENSP00000393645:E714K;ENSP00000307959:E1040K;ENSP00000359824:E1040K;ENSP00000354508:E1040K;ENSP00000404924:E714K;ENSP00000431030:E1080K;ENSP00000359801:E714K;ENSP00000431003:E714K	ENSP00000244364:E714K	E	-	1	0	DST	56605665	1	0.714170	1	0.803570	0.984000	0.730920	7.445000	8.057000e-01	1.503000	0.486860	0.563000	0.778840	GAG		TCGA-XD-AAUG-01A-61D-A40W-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	0	7	218	0	71	0	4.090099e-02	0	9	0	71	2		0	0	0	0	0	2	1	0.980474	7	216	0	70	2								-3.576814	1	1	0	0		1	0	0	0	1.983906	0	0.110000	1.910000	0.093040	0.570000	0.250000	1.000000	1.000000	0.596609	0.570000	0	0.390000	0.800000
ENTPD4	9583	broad.mit.edu	37	8	23290634	23290634	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr8:23290634G>A	ENST00000358689.4	-	13	1891	c.1656C>T	c.(1654-1656)caC>caT	p.H552H	ENTPD4_ENST00000417069.2_Silent_p.H544H|ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4			25		Prostate(55;0.114)			GCCAGTGGGTGTGACTGGCTC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000358689.4	1	1	hg19	CCDS6041.1																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	0	0	0	10	242	0	33	0	3.698789e-01	0	30	0	33	2		0	0	0	0	0	2	1	0.995138	9	219	0	29	2								-11.705290	1	1	0	0		1	1	2	3	2.027209	0	0.110000	1.910000	0.118725	0.790000	0.390000	1.000000	1.000000	0.783741	0.790000	0	0.560000	1.000000
CORO2A	7464	broad.mit.edu	37	9	100895437	100895437	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:100895437G>A	ENST00000343933.5	-	5	788	c.531C>T	c.(529-531)agC>agT	p.S177S	CORO2A_ENST00000375077.4_Silent_p.S177S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A			26		Acute lymphoblastic leukemia(62;0.0559)			CTTGGTGACAGCTAATCGTAC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000343933.5	0	1	hg19	CCDS6735.1																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	0	0	0	5	361	0	72	0	2.062648e-02	0	13	0	72	2		0	0	0	0	0	2	1	0.935205	5	355	0	70	2								-2.854899	1	1	0	0		1	0	1	1	1.909981	0	0.110000	1.910000	0.072772	0.250000	0.090000	0.510000	0.230000	0.274661	0.250000	0	0.160000	0.380000
MPDZ	8777	broad.mit.edu	37	9	13168481	13168481	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:13168481G>A	ENST00000319217.7	-	22	3385	c.3138C>T	c.(3136-3138)ggC>ggT	p.G1046G	MPDZ_ENST00000536827.1_Silent_p.G1046G|MPDZ_ENST00000546205.1_Silent_p.G1046G|MPDZ_ENST00000447879.1_Silent_p.G1046G|MPDZ_ENST00000381022.2_Silent_p.G1046G|MPDZ_ENST00000381015.4_Silent_p.G1046G|MPDZ_ENST00000541718.1_Silent_p.G1046G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein			61					TGGCAATCCGGCCATCTCGAC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000319217.7	0	1	hg19																																																																																					TCGA-XD-AAUG-01A-61D-A40W-08	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	0	0	0	7	853	0	139	0	2.587504e-03	0	8	0	139	2		0	0	0	0	0	2	1	0.980054	7	846	0	139	2								-2.045708	0	1	0	0		1	1	2	3	2.016835	1	0.110000	1.910000	0.156398	0.160000	0.060000	0.310000	0.150000	0.176900	0.160000	0	0.100000	0.240000
ADAMTS13	11093	broad.mit.edu	37	9	136298550	136298550	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:136298550C>T	ENST00000371929.3	+	10	1589	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A54V|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A351V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A382V|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13			36					CCCATAGCAGCAGTGCATGGG	0.652000																								0							SO:0001583	missense			ENST00000371929.3	0	1	hg19	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	0.014000	-1.579567	0.008790	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	4.880000	-1.230000	0.094650	.	.	.	.	.	T	0.21145	0.0509	N	0.00525	-1.395	0.093100	N	1.000000	B;B;B	0.14012	0.001;0.009;0.005	B;B;B	0.06405	0.001;0.002;0.002	T	0.26395	-1.0104	9	0.23891	T	0.37	.	9.0857	0.36579	0.0:0.2758:0.0:0.7242	.	382;351;382	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	V	382;382;351;54	ENSP00000360997:A382V;ENSP00000347927:A382V;ENSP00000348997:A351V;ENSP00000444504:A54V	ENSP00000347927:A382V	A	+	2	0	ADAMTS13	135288371	9.520000e-01	0.324450	2.000000e-03	0.105220	0.006000	0.054640	1.776000	3.859400e-01	-0.069000	0.129310	0.462000	0.415740	GCA		TCGA-XD-AAUG-01A-61D-A40W-08	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	0	0	0	11	294	0	71	0	1.505669e-02	0	5	0	71	2		0	0	0	0	0	2	1	0.998017	11	282	0	69	2								-11.951050	1	1	0	0		1	0	1	1	1.909981	0	0.110000	1.910000	0.072772	0.630000	0.330000	1.000000	1.000000	0.648809	0.630000	0	0.460000	0.830000
BNC2	54796	broad.mit.edu	37	9	16435989	16435989	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:16435989C>T	ENST00000380672.4	-	6	2260	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	BNC2_ENST00000380666.2_Missense_Mutation_p.E735K|BNC2_ENST00000380667.2_Missense_Mutation_p.E668K|BNC2_ENST00000545497.1_Missense_Mutation_p.E640K	NM_017637.5	NP_060107.3			basonuclin 2			60					ATGGATTCCTCGCCCAGTTTG	0.512000																								0							SO:0001583	missense			ENST00000380672.4	1	1	hg19	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	14.300000	2.494610	0.443520	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.46063	1.49;0.88;1.5;1.51;1.5;1.49	5.560000	5.560000	0.838230	.	0.154450	0.56097	D	0.000021	T	0.25121	0.0610	L	0.27053	0.805	0.807220	D	1.000000	P;P;P;P;P;P;P;P;B	0.43885	0.641;0.725;0.82;0.82;0.681;0.509;0.509;0.725;0.327	B;B;B;B;B;B;B;B;B	0.25291	0.054;0.024;0.054;0.054;0.04;0.024;0.024;0.059;0.018	T	0.13818	-1.0495	10	0.11182	T	0.66	-9.5392	19.5353	0.95251	0.0:1.0:0.0:0.0	.	640;668;735;561;735;692;735;640;500	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	K	735;128;692;668;640;561;735;735	ENSP00000370047:E735K;ENSP00000392212:E128K;ENSP00000408370:E692K;ENSP00000370042:E668K;ENSP00000444640:E640K;ENSP00000370041:E735K	ENSP00000370041:E735K	E	-	1	0	BNC2	16425989	1	0.714170	9.800000e-01	0.436190	0.794000	0.448720	4.921000	6.339700e-01	2.618000	0.886190	0.650000	0.862430	GAG		TCGA-XD-AAUG-01A-61D-A40W-08	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	0	0	0	12	322	0	74	0	2.667173e-01	0	26	0	74	2		0	0	0	0	0	2	0	0.273390	12	320	1	73	16								-2.885770	1	1	0	0		1	1	2	3	2.016835	1	0.110000	1.910000	0.156398	0.700000	0.380000	1.000000	1.000000	0.718792	0.700000	0	0.520000	0.920000
TMEM164	84187	broad.mit.edu	37	X	109352318	109352318	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:109352318C>A	ENST00000372073.1	+	4	787	c.451C>A	c.(451-453)Cac>Aac	p.H151N	TMEM164_ENST00000372068.2_Missense_Mutation_p.H151N|TMEM164_ENST00000372072.3_Missense_Mutation_p.H2N|TMEM164_ENST00000288381.4_Intron			Q5U3C3	TM164_HUMAN	transmembrane protein 164			14					GCTACAGATGCACATGTTGAA	0.458000																								0							SO:0001583	missense			ENST00000372073.1	0	1	hg19	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	C	10.680000	1.418339	0.255520	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068	T;T;T	0.41758	0.99;0.99;0.99	5.920000	5.050000	0.679360	.	0.043304	0.85682	N	0.000000	T	0.31606	0.0802	L	0.35593	1.075	0.495820	D	0.999802	P	0.47191	0.891	B	0.41510	0.359	T	0.03784	-1.1004	10	0.22109	T	0.4	-5.2934	11.4735	0.50284	0.1789:0.8211:0.0:0.0	.	151	Q5U3C3	TM164_HUMAN	N	2;151;151	ENSP00000384075:H2N;ENSP00000361143:H151N;ENSP00000361138:H151N	ENSP00000361138:H151N	H	+	1	0	TMEM164	109238974	1	0.714170	1	0.803570	0.943000	0.588930	3.103000	5.029800e-01	1.246000	0.439010	0.600000	0.829820	CAC		TCGA-XD-AAUG-01A-61D-A40W-08	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	0	0	0	8	909	1	210	0	2.097149e-02	0	22	1	210	2		0	0	0	0	0	2	0	0.068155	8	893	1	207	16								-2.714998	1	1	0	0		1	0	1	1			0.110000	1.910000	0.110000	0.160000	0.070000	0.300000	0.160000	0.176473	0.160000	0	0.110000	0.230000
GLUD2	2747	broad.mit.edu	37	X	120181966	120181966	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:120181966G>A	ENST00000328078.1	+	1	505	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2			38					AGCCAGCACCGCACGCCCTGC	0.567000																								0							SO:0001583	missense			ENST00000328078.1	0	1	hg19	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	17.670000	3.447586	0.631780	.	.	ENSG00000182890	ENST00000328078	D	0.97016	-4.21	1.800000	0.910000	0.193370	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.059193	0.64402	D	0.000004	D	0.97390	0.9146	H	0.97491	4.015	0.525010	D	0.999954	P	0.48640	0.913	P	0.49226	0.603	D	0.95406	0.8494	10	0.87932	D	0	.	6.0866	0.19970	0.1851:0.0:0.8149:0.0	.	143	P49448	DHE4_HUMAN	H	143	ENSP00000327589:R143H	ENSP00000327589:R143H	R	+	2	0	GLUD2	120009647	1	0.714170	9.630000e-01	0.404240	0.926000	0.560500	4.515000	6.048900e-01	0.259000	0.217090	-0.412000	0.061460	CGC		TCGA-XD-AAUG-01A-61D-A40W-08	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	0	0	0	5	335	0	50	0	9.136735e-03	0	8	0	50	2		0	0	0	0	0	2	1	0.936029	5	331	0	52	2								-2.851257	1	1	0	0		1	0	1	1			0.110000	1.910000	0.110000	0.280000	0.100000	0.570000	0.260000	0.311391	0.280000	0	0.180000	0.430000
DCAF12L1	139170	broad.mit.edu	37	X	125686333	125686333	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:125686333G>A	ENST00000371126.1	-	1	501	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1			68					CGCTCCGTCAGCAGCTCGGGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000371126.1	1	1	hg19	CCDS14610.1																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	0	0	0	14	370	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	0.999718	14	360	0	62	2								-14.238830	1	1	0	0		1	0	1	1			0.110000	1.910000	0.110000	0.670000	0.380000	1.000000	1.000000	0.686871	0.670000	0	0.510000	0.860000
GPM6B	2824	broad.mit.edu	37	X	13801502	13801502	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:13801502G>A	ENST00000356942.5	-	3	828	c.387C>T	c.(385-387)ggC>ggT	p.G129G	GPM6B_ENST00000454189.2_Silent_p.G110G|GPM6B_ENST00000493677.1_Silent_p.G143G|GPM6B_ENST00000398361.3_Silent_p.G43G|GPM6B_ENST00000355135.2_Silent_p.G169G|GPM6B_ENST00000316715.4_Silent_p.G169G	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B			6					TGATGCATCGGCCACAAGCGG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000356942.5	0	1	hg19	CCDS14158.1																																																																																				TCGA-XD-AAUG-01A-61D-A40W-08	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	0	0	0	6	678	0	175	0	2.388852e-03	0	7	0	175	2		0	0	0	0	0	2	0	0.035045	6	668	1	170	15								-2.631318	1	1	0	0		1	0	1	1			0.110000	1.910000	0.110000	0.160000	0.060000	0.330000	0.160000	0.183321	0.160000	0	0.110000	0.250000