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
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-2J-AAB9-01A-11D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	0	8	204	0	59	0	1.764996e-02	0	5	0	59	2	1	9.978920e-01	11	289	0	297	2	1	0.989367	8	202	0	57	2								-4.033993	1	1	121404	2	44	1	1	2	3	2.100239	0	0.100000	2.020000	0.127907	0.900000	0.400000	1.000000	1.000000	0.835757	0.900000	1	0.600000	1.000000
CINP	51550	broad.mit.edu	37	14	102815068	102815068	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr14:102815068C>T	ENST00000216756.6	-	5	505	c.465G>A	c.(463-465)atG>atA	p.M155I	CINP_ENST00000560326.1_5'Flank|CINP_ENST00000536961.2_Missense_Mutation_p.M170I|CINP_ENST00000541568.2_Missense_Mutation_p.C112Y	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein			4					CCTTCCTGTACATCTCCAAGA	0.527000																								0							SO:0001583	missense			ENST00000216756.6	0	1	hg19	CCDS9972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477860|3.477860	0.63849|0.63849	.|.	.|.	ENSG00000100865|ENSG00000100865	ENST00000541568|ENST00000216756;ENST00000536961	.|T;T	.|0.51817	.|0.72;0.69	6.07|6.07	5.17|5.17	0.71159|0.71159	.|.	.|0.256618	.|0.46442	.|D	.|0.000283	T|T	0.55909|0.55909	0.1950|0.1950	M|M	0.73598|0.73598	2.24|2.24	0.31559|0.31559	N|N	0.657829|0.657829	.|P	.|0.49559	.|0.925	.|P	.|0.46758	.|0.526	T|T	0.69026|0.69026	-0.5254|-0.5254	6|10	0.52906|0.66056	T|D	0.07|0.02	.|.	14.4832|14.4832	0.67597|0.67597	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	.|155	.|Q9BW66	.|CINP_HUMAN	Y|I	112|155;170	.|ENSP00000216756:M155I;ENSP00000442057:M170I	ENSP00000442377:C112Y|ENSP00000216756:M155I	C|M	-|-	2|3	0|0	CINP|CINP	101884821|101884821	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.436000|0.436000	0.31835|0.31835	1.313000|1.313000	0.33585|0.33585	1.549000|1.549000	0.49425|0.49425	0.655000|0.655000	0.94253|0.94253	TGT|ATG		TCGA-2J-AAB9-01A-11D-A40W-08	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	0	0	1	4	84	0	25	1	6.588245e-01	9	36	0	25	2		0	0	0	0	0	2	1	0.886537	4	82	0	25	2								-7.715463	1	1	0	0		1	1	2	3	2.002445	0	0.100000	2.020000	0.106700	0.990000	0.340000	1.000000	1.000000	0.856403	0.990000	1	0.610000	1.000000
TEPP	374739	broad.mit.edu	37	16	58018681	58018681	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:58018681G>A	ENST00000441824.2	+	4	629	c.592G>A	c.(592-594)Ggg>Agg	p.G198R	TEPP_ENST00000290871.5_Missense_Mutation_p.G198R|TEPP_ENST00000569996.1_3'UTR	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed			8					GTCCTCGGCCGGGGAGTTCAA	0.682000																								0							SO:0001583	missense			ENST00000441824.2	0	1	hg19	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006870	0.54361	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.59772	0.24;0.26	5.29	4.34	0.51931	.	0.285249	0.29948	N	0.010788	T	0.59715	0.2214	M	0.81682	2.555	0.09310	N	1	D;D	0.56287	0.975;0.975	B;B	0.43386	0.418;0.418	T	0.60042	-0.7340	10	0.59425	D	0.04	8.7723	10.1043	0.42524	0.0933:0.0:0.9067:0.0	.	198;198	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	R	198	ENSP00000290871:G198R;ENSP00000401917:G198R	ENSP00000290871:G198R	G	+	1	0	TEPP	56576182	0.766000	0.28496	0.091000	0.20842	0.959000	0.62525	1.217000	0.32455	1.229000	0.43630	-0.149000	0.13747	GGG		TCGA-2J-AAB9-01A-11D-A40W-08	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	1	0	0	4	72	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	0.889105	4	71	0	10	2								-3.179890	1	1	121310	1	19	1	1	2	3	1.999303	0	0.100000	2.020000	0.105812	0.990000	0.390000	1.000000	1.000000	0.892126	0.990000	1	0.690000	1.000000
CNTNAP4	85445	broad.mit.edu	37	16	76486445	76486445	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:76486445C>T	ENST00000476707.1	+	7	1260	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P298L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P322L|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.P370L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4			64					CAATCTATGCCCGTGACTTTT	0.393000																								0							SO:0001583	missense			ENST00000476707.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	21.5	4.161570	0.78226	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.41294	D	0.000901	D	0.89192	0.6645	.	.	.	0.80722	D	1	D;D;P;D	0.89917	0.996;0.984;0.937;1.0	D;D;P;D	0.97110	0.977;0.909;0.533;1.0	D	0.89667	0.3881	9	0.87932	D	0	.	19.6434	0.95767	0.0:1.0:0.0:0.0	.	298;374;346;371	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	L	370;322;298;374	ENSP00000306893:P370L;ENSP00000439733:P322L;ENSP00000418741:P298L;ENSP00000417628:P374L	ENSP00000306893:P370L	P	+	2	0	CNTNAP4	75043946	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.376000	0.66178	2.880000	0.98712	0.655000	0.94253	CCC		TCGA-2J-AAB9-01A-11D-A40W-08	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	1	0	0	20	358	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	0.999995	20	354	0	78	2								-5.005502	1	1	0	0		1	1	2	3	1.999303	0	0.100000	2.020000	0.105812	0.990000	0.680000	1.000000	1.000000	0.953544	0.990000	1	0.870000	1.000000
EVI2A	2123	broad.mit.edu	37	17	29645681	29645681	+	Silent	SNP	A	A	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:29645681A>G	ENST00000462804.2	-	2	750	c.351T>C	c.(349-351)caT>caC	p.H117H	EVI2A_ENST00000461237.1_Silent_p.H117H|NF1_ENST00000581113.2_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000247270.3_Silent_p.H140H|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.W57R	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	p.0?(8)|p.?(3)		14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)			AAATTTCACCATGACTTTTGC	0.358000																								11	Whole gene deletion(8)|Unknown(3)						SO:0001819	synonymous_variant			ENST00000462804.2	1	0	hg19	CCDS42293.1																																																																																				TCGA-2J-AAB9-01A-11D-A40W-08	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	1	0	0	33	501	0	123	0	4.930097e-01	0	26	0	123	2		0	0	0	0	0	2	1	1.000000	32	496	0	122	2								-7.648710	1	1	121412	1	30	1	1	2	3	2.076903	0	0.100000	2.020000	0.122807	0.990000	0.910000	1.000000	1.000000	0.995055	0.990000	1	0.990000	1.000000
KRT13	3860	broad.mit.edu	37	17	39658808	39658808	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:39658808G>A	ENST00000246635.3	-	6	1108	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Silent_p.C354C|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Silent_p.C354C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13			33		Breast(137;0.000286)			GGGCATAGCGGCACTCCGTCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000246635.3	0	1	hg19	CCDS11396.1																																																																																				TCGA-2J-AAB9-01A-11D-A40W-08	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	0	0	0	6	573	1	98	0	6.599619e-03	0	1221	1	98	36		0	0	0	0	0	2	1	0.963981	6	567	0	95	2								-2.617260	1	1	0	0		1	1	2	3	2.076903	0	0.100000	2.020000	0.122807	0.260000	0.090000	1.000000	0.210000	0.427164	0.260000	0	0.160000	1.000000
TP53	7157	broad.mit.edu	37	17	7579377	7579377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:7579377G>A	ENST00000269305.4	-	4	499	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*	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.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TAGCTGCCCTGGTAGGTTTTC	0.632000		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	34	Substitution - Nonsense(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Complex - deletion inframe(2)|Complex - compound substitution(1)						SO:0001587	stop_gained	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460479	0.63401	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	4.75	0.60458	.	0.378699	0.29424	N	0.012186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	2.2505	11.3383	0.49518	0.0:0.1837:0.8163:0.0	.	.	.	.	X	104	.	ENSP00000269305:Q104X	Q	-	1	0	TP53	7520102	1.000000	0.71417	0.643000	0.29450	0.384000	0.30261	1.618000	0.36954	2.630000	0.89119	0.655000	0.94253	CAG		TCGA-2J-AAB9-01A-11D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	23	314	0	76	0	5.288786e-01	1	24	0	76	2	1	9.997745e-01	9	174	0	181	2	1	0.999999	23	308	0	75	2								-6.975264	1	1	0	0		1	0	1	1	1.940295	0	0.100000	2.020000	0.064449	0.990000	0.780000	1.000000	1.000000	0.975665	0.990000	1	0.940000	1.000000
FHOD3	80206	broad.mit.edu	37	18	34205579	34205579	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr18:34205579C>T	ENST00000359247.4	+	10	1063	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	FHOD3_ENST00000591635.1_Silent_p.T29T|FHOD3_ENST00000590592.1_Missense_Mutation_p.R355W|FHOD3_ENST00000445677.1_Missense_Mutation_p.R355W|FHOD3_ENST00000257209.4_Missense_Mutation_p.R355W	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	p.R355W(1)		90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)			AGGCGAGCACCGGGGCCTGGA	0.697000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000359247.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.8	4.056169	0.76074	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.35236	1.33;1.33;1.32	5.28	5.28	0.74379	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.269957	0.36167	N	0.002746	T	0.44891	0.1315	L	0.58101	1.795	0.32709	N	0.51179	D;D;D;D	0.71674	0.986;0.994;0.994;0.998	P;P;P;P	0.51657	0.471;0.614;0.502;0.676	T	0.61554	-0.7039	10	0.87932	D	0	.	11.5603	0.50772	0.1781:0.8219:0.0:0.0	.	355;355;355;355	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	W	355	ENSP00000257209:R355W;ENSP00000352186:R355W;ENSP00000411430:R355W	ENSP00000257209:R355W	R	+	1	2	FHOD3	32459577	1.000000	0.71417	0.114000	0.21550	0.842000	0.47809	3.935000	0.56560	2.469000	0.83416	0.655000	0.94253	CGG		TCGA-2J-AAB9-01A-11D-A40W-08	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	1	0	0	11	279	0	57	0	4.220521e-02	0	8	0	57	2		0	0	0	0	0	2	1	0.998189	11	272	0	56	2								-3.398903	1	1	0	0		1	0	0	0	1.935203	0	0.100000	2.020000	0.064449	0.720000	0.380000	1.000000	1.000000	0.730714	0.720000	0	0.530000	0.940000
KLK15	55554	broad.mit.edu	37	19	51330383	51330383	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:51330383G>A	ENST00000598239.1	-	3	262	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	KLK15_ENST00000596931.1_Missense_Mutation_p.R77C|KLK15_ENST00000416184.1_Missense_Mutation_p.R78C|KLK15_ENST00000326856.4_Missense_Mutation_p.R77C|KLK15_ENST00000301421.2_Missense_Mutation_p.R78C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15			24		all_neural(266;0.057)			TCGCGCTTGCGCAGGTTGTGC	0.632000													Pancreas(140;10 2513 7143 9246)											0							SO:0001583	missense			ENST00000598239.1	0	1	hg19	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329160	0.60743	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.89415	-2.51;-2.51	4.51	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46442	D	0.000293	D	0.91778	0.7399	L	0.61218	1.895	0.09310	N	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	P;P;D;P	0.65987	0.892;0.892;0.94;0.892	D	0.84525	0.0630	10	0.56958	D	0.05	.	10.1981	0.43067	0.0:0.0:0.8015:0.1985	.	78;77;78;78	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	C	78	ENSP00000415136:R78C;ENSP00000301421:R78C	ENSP00000301421:R78C	R	-	1	0	KLK15	56022195	0.000000	0.05858	0.999000	0.59377	0.951000	0.60555	0.118000	0.15605	2.519000	0.84933	0.561000	0.74099	CGC		TCGA-2J-AAB9-01A-11D-A40W-08	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	0	0	0	8	479	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	0.988842	9	471	0	102	2								-6.712205	1	1	0	0		1	1	2	3	2.008441	0	0.100000	2.020000	0.108028	0.370000	0.160000	1.000000	0.320000	0.453419	0.370000	0	0.250000	0.640000
ACTL9	284382	broad.mit.edu	37	19	8808452	8808452	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:8808452G>A	ENST00000324436.3	-	1	720	c.600C>T	c.(598-600)caC>caT	p.H200H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9			36					AGGTGACCCCGTGTCCCGTGT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000324436.3	1	1	hg19	CCDS12207.1																																																																																				TCGA-2J-AAB9-01A-11D-A40W-08	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	0	19	275	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	0.999991	19	270	0	43	2								-19.998160	1	1	0	0		1	1	2	3	1.999602	0	0.100000	2.020000	0.105812	0.990000	0.820000	1.000000	1.000000	0.987903	0.990000	1	0.990000	1.000000
ATP8B2	57198	broad.mit.edu	37	1	154306722	154306722	+	Silent	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:154306722C>T	ENST00000368489.3	+	10	828	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ATP8B2_ENST00000368487.3_Silent_p.F243F|ATP8B2_ENST00000341822.2_Silent_p.F262F|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2		IL6R/ATP8B2(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		AGTGGTGCTTCGGGCTGGTCA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000368489.3	1	1	hg19	CCDS1066.1																																																																																				TCGA-2J-AAB9-01A-11D-A40W-08	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	1	0	0	36	773	0	181	0	6.185315e-03	0	3	0	181	2		0	0	0	0	0	2	1	1.000000	36	763	0	179	2								-4.293961	1	1	0	0		1	1	2	3	1.999988	0	0.100000	2.020000	0.106256	0.920000	0.640000	1.000000	1.000000	0.897092	0.920000	1	0.770000	1.000000
PAQR6	79957	broad.mit.edu	37	1	156215369	156215369	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:156215369C>T	ENST00000292291.5	-	5	627	c.469G>A	c.(469-471)Gca>Aca	p.A157T	PAQR6_ENST00000368270.1_Missense_Mutation_p.A133T|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000335852.1_Missense_Mutation_p.A51T|PAQR6_ENST00000356983.2_Missense_Mutation_p.A51T|PAQR6_ENST00000540423.1_Missense_Mutation_p.A154T	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI			5	Hepatocellular(266;0.158)				GAGTTGAGTGCGGCGGCAGGC	0.687000													GBM(16;219 398 12385 32425 38531)											0							SO:0001583	missense			ENST00000292291.5	0	1	hg19	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630223	0.46944	.	.	ENSG00000160781	ENST00000292291;ENST00000360733;ENST00000335852;ENST00000356983;ENST00000368270;ENST00000540423	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	4.2	3.26	0.37387	.	.	.	.	.	T	0.21801	0.0525	L	0.61036	1.89	0.30241	N	0.795024	P;P;P	0.42584	0.784;0.744;0.784	B;B;B	0.41332	0.121;0.354;0.121	T	0.02942	-1.1091	9	0.33141	T	0.24	.	11.2653	0.49106	0.0:0.9047:0.0:0.0953	.	154;51;157	B7Z9R9;Q6TCH4-2;Q6TCH4	.;.;PAQR6_HUMAN	T	157;51;51;51;133;154	ENSP00000292291:A157T;ENSP00000353961:A51T;ENSP00000338330:A51T;ENSP00000349474:A51T;ENSP00000357253:A133T;ENSP00000443167:A154T	ENSP00000292291:A157T	A	-	1	0	PAQR6	154481993	0.456000	0.25744	0.999000	0.59377	0.785000	0.44390	1.863000	0.39459	2.146000	0.66826	0.462000	0.41574	GCA		TCGA-2J-AAB9-01A-11D-A40W-08	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	0	0	0	5	237	0	43	0	7.025761e-04	0	2	0	43	2		0	0	0	0	0	2	1	0.936819	5	235	0	41	2								-2.807899	1	1	0	0		1	1	2	3	1.999988	0	0.100000	2.020000	0.106256	0.470000	0.170000	1.000000	0.410000	0.535104	0.470000	0	0.290000	0.820000
USP24	23358	broad.mit.edu	37	1	55562215	55562215	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:55562215T>G	ENST00000294383.6	-	50	6016	c.6017A>C	c.(6016-6018)tAt>tCt	p.Y2006S	USP24_ENST00000407756.1_Missense_Mutation_p.Y1846S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24			60					AAAGCATTCATACTCCAGGGT	0.323000																								0							SO:0001583	missense			ENST00000294383.6	1	1	hg19	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	T	8.490	0.861857	0.17178	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.04454	3.62;3.62	6.06	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.02230	0.0069	N	0.05124	-0.11	0.58432	D	0.999995	B	0.27013	0.166	B	0.21151	0.033	T	0.37526	-0.9702	10	0.02654	T	1	.	12.2795	0.54755	0.127:0.0:0.0:0.873	.	1846	B7WPF4	.	S	2006;1846	ENSP00000294383:Y2006S;ENSP00000385700:Y1846S	ENSP00000294383:Y2006S	Y	-	2	0	USP24	55334803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.868000	0.69605	2.324000	0.78689	0.533000	0.62120	TAT		TCGA-2J-AAB9-01A-11D-A40W-08	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2	1	0	0	7	209	0	32	0	2.002875e-02	0	6	0	32	2		0	0	0	0	0	2	1	0.979458	7	204	0	32	2								-9.711997	1	1	0	0		1	0	0	0	1.936615	0	0.100000	2.020000	0.065421	0.620000	0.280000	1.000000	1.000000	0.645975	0.620000	0	0.430000	0.860000
ASXL1	171023	broad.mit.edu	37	20	31023733	31023733	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:31023733G>A	ENST00000375687.4	+	13	3642	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	ASXL1_ENST00000306058.5_Missense_Mutation_p.R1068H	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1			722					TGTGCGGTCCGCCAAAAGATC	0.572000			F, N, Mis		MDS, CMML										Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0							SO:0001583	missense			ENST00000375687.4	0	1	hg19	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530985	0.45073	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.32515	1.45;1.45	4.17	3.22	0.36961	.	0.398033	0.27696	N	0.018224	T	0.14356	0.0347	N	0.14661	0.345	0.27406	N	0.954705	P;P	0.46327	0.733;0.876	B;B	0.28638	0.092;0.082	T	0.11203	-1.0597	10	0.66056	D	0.02	-8.1008	13.3344	0.60509	0.0:0.8381:0.1619:0.0	.	1068;1073	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	H	1073;1073;1073;994;1068	ENSP00000364839:R1073H;ENSP00000305119:R1068H	ENSP00000305119:R1068H	R	+	2	0	ASXL1	30487394	0.043000	0.20138	0.202000	0.23494	0.973000	0.67179	1.798000	0.38814	1.347000	0.45714	-0.270000	0.10280	CGC		TCGA-2J-AAB9-01A-11D-A40W-08	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	0	0	0	9	432	0	81	0	2.056837e-01	0	37	0	81	2		0	0	0	0	0	2	1	0.993826	11	422	0	80	2								-2.130350	0	1	0	0		1	1	2	3	2.015589	0	0.100000	2.020000	0.109352	0.460000	0.210000	1.000000	0.400000	0.534748	0.460000	0	0.310000	0.930000
CSE1L	1434	broad.mit.edu	37	20	47704596	47704596	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:47704596C>T	ENST00000262982.2	+	17	1897	c.1774C>T	c.(1774-1776)Cct>Tct	p.P592S	CSE1L_ENST00000542325.1_Missense_Mutation_p.P375S|CSE1L_ENST00000396192.3_Missense_Mutation_p.P536S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)			35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		CCCCTACATCCCTACTCTCAT	0.358000																								0							SO:0001583	missense			ENST00000262982.2	1	1	hg19	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061197	0.36373	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.66280	-0.2;-0.2;-0.2	5.57	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.047464	0.85682	D	0.000000	T	0.53997	0.1831	L	0.41632	1.29	0.80722	D	1	P;P;B;B;P	0.41345	0.57;0.746;0.017;0.032;0.746	B;B;B;B;B	0.41988	0.255;0.372;0.105;0.064;0.372	T	0.50541	-0.8816	10	0.08599	T	0.76	-9.7713	16.5517	0.84474	0.0:0.8694:0.1306:0.0	.	281;375;536;536;592	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	S	190;592;375;536	ENSP00000262982:P592S;ENSP00000446477:P375S;ENSP00000379495:P536S	ENSP00000262982:P592S	P	+	1	0	CSE1L	47138003	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.689000	0.68234	1.336000	0.45506	-0.172000	0.13284	CCT		TCGA-2J-AAB9-01A-11D-A40W-08	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	0	0	1	18	273	1	69	1	2.113186e-01	9	27	1	69	4		0	0	0	0	0	2	1	0.750202	18	270	1	69	15								-2.642480	1	1	0	0		1	1	2	3	2.015589	0	0.100000	2.020000	0.109352	0.990000	0.790000	1.000000	1.000000	0.983564	0.990000	1	0.990000	1.000000
MGAT3	4248	broad.mit.edu	37	22	39884148	39884148	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:39884148C>T	ENST00000341184.6	+	2	1011	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase			24	Melanoma(58;0.04)				CGAGTACATCCGCCACAAGGT	0.637000																								0							SO:0001583	missense			ENST00000341184.6	0	1	hg19	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388329	0.82902	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.43	5.43	0.79202	.	0.065075	0.64402	D	0.000012	T	0.65873	0.2733	L	0.43152	1.355	0.58432	D	0.999995	D	0.76494	0.999	P	0.60609	0.877	T	0.68070	-0.5506	9	0.72032	D	0.01	.	14.1179	0.65167	0.1502:0.8498:0.0:0.0	.	266	Q09327	MGAT3_HUMAN	C	266	.	ENSP00000345270:R266C	R	+	1	0	MGAT3	38214094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.306000	0.59117	2.571000	0.86741	0.561000	0.74099	CGC		TCGA-2J-AAB9-01A-11D-A40W-08	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	0	0	0	7	440	0	83	0	0	0	1	0	83	2		0	0	0	0	0	2	1	0.978641	7	427	0	83	2								-2.491321	0	1	0	0		1	1	2	3	2.000803	0	0.100000	2.020000	0.106256	0.350000	0.150000	1.000000	0.300000	0.424407	0.350000	0	0.230000	0.570000
PHF21B	112885	broad.mit.edu	37	22	45312324	45312324	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:45312324C>T	ENST00000313237.5	-	4	550	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	PHF21B_ENST00000396103.3_Missense_Mutation_p.A134T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A122T|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.A122T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B			25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)			GCGGGCTCGGCGAGGGCCTGG	0.726000																								0							SO:0001583	missense			ENST00000313237.5	0	1	hg19	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	C	6.580	0.475266	0.12521	0.0	2.34E-4	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	D;T;T;T;T	0.82167	-1.58;-1.49;-1.49;1.51;0.84	4.68	0.208	0.15221	.	0.598227	0.16002	N	0.234261	T	0.66607	0.2806	L	0.29908	0.895	0.20074	N	0.999932	B;B;B;B	0.12013	0.003;0.004;0.002;0.005	B;B;B;B	0.09377	0.004;0.002;0.002;0.004	T	0.46830	-0.9163	10	0.11182	T	0.66	-4.4072	6.0924	0.20001	0.0:0.5743:0.1259:0.2999	.	122;134;122;134	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	T	134;134;122;122;122	ENSP00000324403:A134T;ENSP00000379410:A134T;ENSP00000385105:A122T;ENSP00000388619:A122T;ENSP00000401294:A122T	ENSP00000324403:A134T	A	-	1	0	PHF21B	43690988	0.001000	0.12720	0.237000	0.24090	0.423000	0.31445	-0.245000	0.08890	-0.031000	0.13781	-0.136000	0.14681	GCC		TCGA-2J-AAB9-01A-11D-A40W-08	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	1	0	0	10	131	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	0.996524	10	125	0	23	2								-14.480290	1	1	120466	5	35	1	1	2	3	2.000803	0	0.100000	2.020000	0.106256	0.990000	0.750000	1.000000	1.000000	0.982075	0.990000	1	0.990000	1.000000
EPB41L5	57669	broad.mit.edu	37	2	120776837	120776837	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:120776837G>A	ENST00000263713.5	+	2	391	c.177G>A	c.(175-177)ttG>ttA	p.L59L	EPB41L5_ENST00000443124.1_Silent_p.L59L|EPB41L5_ENST00000452780.1_Silent_p.L59L|EPB41L5_ENST00000443902.2_Silent_p.L59L|EPB41L5_ENST00000331393.4_Silent_p.L59L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5			26					GTGTGGACTTGCCAGTAAGTA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000263713.5	1	1	hg19	CCDS2130.1																																																																																				TCGA-2J-AAB9-01A-11D-A40W-08	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	1	0	0	52	676	0	125	1	2.156136e-01	4	8	0	125	2		0	0	0	0	0	2	1	1.000000	52	671	0	125	2								-10.771600	1	1	0	0		1	1	2	3	2.041853	0	0.100000	2.020000	0.115044	0.990000	0.990000	1.000000	1.000000	0.999847	0.990000	1	0.990000	1.000000
PARD3B	117583	broad.mit.edu	37	2	205983664	205983664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:205983664C>T	ENST00000406610.2	+	7	907	c.700C>T	c.(700-702)Cga>Tga	p.R234*	PARD3B_ENST00000349953.3_Nonsense_Mutation_p.R234*|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.R234*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta			65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)			ACTCTTCATCCGAGGCATTGA	0.338000																								0							SO:0001587	stop_gained			ENST00000406610.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	35	5.441097	0.96187	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	.	.	.	5.64	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	15.9455	0.79789	0.1361:0.8639:0.0:0.0	.	.	.	.	X	234	.	ENSP00000340280:R234X	R	+	1	2	PARD3B	205691909	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.696000	0.54757	1.361000	0.45981	-0.188000	0.12872	CGA		TCGA-2J-AAB9-01A-11D-A40W-08	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	0	0	0	6	290	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	0.964661	6	288	0	47	2								-2.644345	1	1	0	0		1	1	2	3	2.037688	0	0.100000	2.020000	0.114173	0.490000	0.190000	1.000000	0.410000	0.576634	0.490000	0	0.310000	1.000000
FARSB	10056	broad.mit.edu	37	2	223489170	223489170	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:223489170G>A	ENST00000281828.6	-	12	1254	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	FARSB_ENST00000536361.1_Silent_p.L232L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit			24		Renal(207;0.0183)		L-Phenylalanine(DB00120)	ATCCTGGTCAGAAGTTTGGCA	0.338000																								0							SO:0001819	synonymous_variant			ENST00000281828.6	1	1	hg19	CCDS2454.1																																																																																				TCGA-2J-AAB9-01A-11D-A40W-08	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	1	0	0	12	204	0	54	1	5.728947e-01	7	26	0	54	2		0	0	0	0	0	2	1	0.999173	12	203	0	54	2								-15.097390	1	1	0	0		1	1	2	3	2.037688	0	0.100000	2.020000	0.114173	0.990000	0.650000	1.000000	1.000000	0.958661	0.990000	1	0.890000	1.000000
MYLK	4638	broad.mit.edu	37	3	123345771	123345771	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:123345771G>A	ENST00000475616.1	-	28	5131	c.5132C>T	c.(5131-5133)aCg>aTg	p.T1711M	MYLK_ENST00000354792.5_Missense_Mutation_p.T511M|MYLK_ENST00000360772.3_Missense_Mutation_p.T1660M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1660M|MYLK_ENST00000418370.2_5'Flank|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.T1642M|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.T1711M			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			AAGGCACTGCGTGCAGTCCAG	0.502000																								0							SO:0001583	missense			ENST00000475616.1	1	1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096308	0.76870	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.66099	1.04;-0.19;1.04;-0.19;-0.19;-0.19	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71160	0.3307	L	0.31752	0.955	0.42283	D	0.992105	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.978;0.978;0.978;0.978;0.991	T	0.73764	-0.3880	9	0.62326	D	0.03	.	18.9654	0.92694	0.0:0.0:1.0:0.0	.	1711;1591;1660;1642;1711	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	M	1660;1711;1660;1642;511;1711	ENSP00000354004:T1660M;ENSP00000353452:T1711M;ENSP00000352088:T1660M;ENSP00000320622:T1642M;ENSP00000346846:T511M;ENSP00000418335:T1711M	ENSP00000320622:T1642M	T	-	2	0	MYLK	124828461	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.036000	0.64164	2.732000	0.93576	0.591000	0.81541	ACG		TCGA-2J-AAB9-01A-11D-A40W-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1	19	166	0	37	0	8.246527e-01	0	30	0	37	2		0	0	0	0	0	2	1	0.999992	19	164	0	37	2								-9.308555	1	1	121412	1	39	1	0	1	1	1.995938	0	0.100000	2.020000	0.093656	0.990000	0.990000	1.000000	1.000000	0.999602	0.990000	1	0.990000	1.000000
MSL2	55167	broad.mit.edu	37	3	135913815	135913815	+	Splice_Site	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:135913815G>A	ENST00000309993.2	-	1	873	c.141C>T	c.(139-141)tgC>tgT	p.C47C	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)			18					GCGTCTCACCGCAAACACAGC	0.507000																								0							SO:0001630	splice_region_variant			ENST00000309993.2	0	1	hg19	CCDS33861.1																																																																																				TCGA-2J-AAB9-01A-11D-A40W-08	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	0	0	0	7	742	0	150	0	9.026759e-03	0	13	0	150	2		0	0	0	0	0	2	1	0.980280	7	738	0	148	2								-1.879099	0	1	121412	1	33	1	0	1	1	1.995938	0	0.100000	2.020000	0.093656	0.190000	0.080000	0.360000	0.180000	0.208829	0.190000	0	0.130000	0.280000
GRIP2	80852	broad.mit.edu	37	3	14552768	14552768	+	RNA	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:14552768C>T	ENST00000273083.3	-	0	1902							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2			25					GTTGTCCAGGCGGATATTGTC	0.612000																								0											ENST00000273083.3	1	1	hg19																																																																																					TCGA-2J-AAB9-01A-11D-A40W-08	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	0	0	0	16	159	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.999939	16	156	0	34	2								-7.802773	1	1	121072	10	38	1	0	1	1	1.919377	0	0.100000	2.020000	0.058577	0.990000	0.750000	1.000000	1.000000	0.963068	0.990000	1	0.900000	1.000000
MED12L	116931	broad.mit.edu	37	3	151107890	151107890	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:151107890G>A	ENST00000474524.1	+	36	5508	c.5470G>A	c.(5470-5472)Ggc>Agc	p.G1824S	MED12L_ENST00000273432.4_Missense_Mutation_p.G1684S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like			128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		CCAGCAGCCCGGCTTTTTCCT	0.502000																								0							SO:0001583	missense			ENST00000474524.1	1	1	hg19	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727184	0.48833	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.59906	0.37;0.23	5.75	-0.308	0.12773	Mediator complex, subunit Med12, catenin-binding (1);	0.320200	0.34110	N	0.004251	T	0.40886	0.1135	L	0.35723	1.085	0.23449	N	0.997655	B;B	0.32409	0.37;0.033	B;B	0.27380	0.079;0.038	T	0.22382	-1.0218	10	0.52906	T	0.07	-5.806	9.6232	0.39734	0.4167:0.0:0.5833:0.0	.	1684;1824	F8WAE6;Q86YW9	.;MD12L_HUMAN	S	1824;1684	ENSP00000417235:G1824S;ENSP00000273432:G1684S	ENSP00000273432:G1684S	G	+	1	0	MED12L	152590580	0.860000	0.29831	0.190000	0.23270	0.991000	0.79684	0.622000	0.24433	-0.386000	0.07821	0.655000	0.94253	GGC		TCGA-2J-AAB9-01A-11D-A40W-08	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	0	34	694	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1.000000	33	672	0	123	2								-4.357162	1	1	0	0		1	0	1	1	1.995938	0	0.100000	2.020000	0.093656	0.920000	0.650000	1.000000	1.000000	0.902447	0.920000	1	0.780000	1.000000
ABCF3	55324	broad.mit.edu	37	3	183904017	183904017	+	Silent	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:183904017C>T	ENST00000429586.2	+	1	207	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	ABCF3_ENST00000292808.5_Silent_p.L8L|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3			39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		CGCCGAAATCCTGCGGAGCGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000429586.2	1	1	hg19	CCDS3254.1																																																																																				TCGA-2J-AAB9-01A-11D-A40W-08	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	1	0	0	16	309	0	55	1	2.409718e-01	3	15	0	55	2		0	0	0	0	0	2	1	0.999932	17	304	0	55	2								-2.921758	1	1	121410	2	34	1	0	1	1	1.995938	0	0.100000	2.020000	0.093656	0.970000	0.580000	1.000000	1.000000	0.907662	0.970000	1	0.760000	1.000000
FETUB	26998	broad.mit.edu	37	3	186370361	186370361	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:186370361C>T	ENST00000265029.3	+	7	1191	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	FETUB_ENST00000539949.1_Missense_Mutation_p.R216C|FETUB_ENST00000450521.1_Missense_Mutation_p.R364C|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.R299C|FETUB_ENST00000382136.3_Missense_Mutation_p.R327C	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	p.R364C(1)		20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)		AGAAAAAGCACGCACTGCTGA	0.562000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000265029.3	0	1	hg19	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694262	0.48202	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	4.27	2.33	0.28932	.	0.527286	0.17286	N	0.179826	T	0.70979	0.3286	M	0.69823	2.125	0.09310	N	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.66602	0.92;0.945;0.91	T	0.58707	-0.7589	10	0.87932	D	0	-7.428	4.7449	0.13033	0.2128:0.6758:0.0:0.1115	.	327;299;364	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	C	364;216;364;299;327	ENSP00000404288:R364C;ENSP00000443704:R216C;ENSP00000265029:R364C;ENSP00000371569:R299C;ENSP00000371571:R327C	ENSP00000265029:R364C	R	+	1	0	FETUB	187853055	0.000000	0.05858	0.170000	0.22879	0.001000	0.01503	0.050000	0.14120	1.169000	0.42739	-0.140000	0.14226	CGC		TCGA-2J-AAB9-01A-11D-A40W-08	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	0	0	0	7	343	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	0.979855	6	339	0	48	2								-3.303856	1	1	121412	8	40	1	0	1	1	1.995938	0	0.100000	2.020000	0.093656	0.410000	0.180000	0.750000	0.390000	0.438764	0.410000	0	0.280000	0.580000
CCDC50	152137	broad.mit.edu	37	3	191098488	191098488	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:191098488G>A	ENST00000392455.3	+	7	1175	c.577G>A	c.(577-579)Gac>Aac	p.D193N	CCDC50_ENST00000392456.3_Missense_Mutation_p.D369N	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50			23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)		TACCCAGGTGGACATGAGAGC	0.348000																								0							SO:0001583	missense			ENST00000392455.3	1	1	hg19	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634726	0.87660	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.55413	0.88;0.52	5.49	5.49	0.81192	.	0.109300	0.64402	D	0.000008	T	0.72930	0.3522	M	0.79258	2.445	0.38906	D	0.957439	D;D	0.89917	0.999;1.0	D;D	0.87578	0.951;0.998	T	0.77768	-0.2464	10	0.87932	D	0	.	14.8753	0.70491	0.0:0.0:1.0:0.0	.	193;369	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	N	193;369	ENSP00000376249:D193N;ENSP00000376250:D369N	ENSP00000376249:D193N	D	+	1	0	CCDC50	192581182	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.382000	0.66213	2.576000	0.86940	0.591000	0.81541	GAC		TCGA-2J-AAB9-01A-11D-A40W-08	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	1	0	0	7	139	0	36	1	9.024162e-01	14	71	0	36	2		0	0	0	0	0	2	1	0.979474	7	135	0	36	2								-10.124270	1	1	0	0		1	0	1	1	1.995938	0	0.100000	2.020000	0.093656	0.950000	0.430000	1.000000	1.000000	0.866096	0.950000	1	0.660000	1.000000
C1QTNF7	114905	broad.mit.edu	37	4	15444115	15444115	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:15444115G>A	ENST00000444304.2	+	3	888	c.562G>A	c.(562-564)Gct>Act	p.A188T	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.A195T|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.A188T			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7			16					GTTCATCTGTGCTTTCCCAGG	0.438000																								0							SO:0001583	missense			ENST00000444304.2	1	1	hg19	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656712	0.67586	.	.	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.74842	-0.88;-0.88;-0.88	5.8	5.8	0.92144	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.052703	0.85682	D	0.000000	T	0.72669	0.3489	N	0.21617	0.685	0.80722	D	1	P	0.51240	0.943	P	0.51516	0.672	T	0.69665	-0.5084	9	.	.	.	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	188	Q9BXJ2	C1QT7_HUMAN	T	195;188;188	ENSP00000295297:A195T;ENSP00000410722:A188T;ENSP00000388914:A188T	.	A	+	1	0	C1QTNF7	15053213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.748000	0.94277	0.655000	0.94253	GCT		TCGA-2J-AAB9-01A-11D-A40W-08	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2	1	0	0	49	845	0	194	0	0	0	1	0	194	2		0	0	0	0	0	2	1	1.000000	48	831	0	191	2								-7.395627	1	1	0	0		1	0	0	0	1.955828	0	0.100000	2.020000	0.075026	0.990000	0.790000	1.000000	1.000000	0.971265	0.990000	1	0.910000	1.000000
WDR36	134430	broad.mit.edu	37	5	110459563	110459563	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:110459563A>G	ENST00000513710.2	+	20	2381	c.2377A>G	c.(2377-2379)Aca>Gca	p.T793A	WDR36_ENST00000506538.2_Missense_Mutation_p.T793A			Q8NI36	WDR36_HUMAN	WD repeat domain 36			45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)			TTTCATTCCAACAATTCCTGG	0.353000																								0							SO:0001583	missense			ENST00000513710.2	1	1	hg19	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419359	0.83559	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.80824	-1.42;-1.42	5.65	5.65	0.86999	Small-subunit processome, Utp21 (1);	0.000000	0.85682	D	0.000000	D	0.89529	0.6741	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.90801	0.4694	10	0.87932	D	0	-21.8617	16.1611	0.81712	1.0:0.0:0.0:0.0	.	793	Q8NI36	WDR36_HUMAN	A	793	ENSP00000423067:T793A;ENSP00000424628:T793A	ENSP00000423067:T793A	T	+	1	0	WDR36	110487462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.965000	0.87945	2.272000	0.75746	0.460000	0.39030	ACA		TCGA-2J-AAB9-01A-11D-A40W-08	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	1	0	0	18	318	0	93	0	1.458305e-01	1	11	0	93	2		0	0	0	0	0	2	1	0.999984	18	318	0	91	2								-19.799980	1	1	121410	1	36	1	0	0	0	1.975219	0	0.100000	2.020000	0.083503	0.990000	0.640000	1.000000	1.000000	0.937443	0.990000	1	0.820000	1.000000
EPB41L4A	64097	broad.mit.edu	37	5	111616005	111616005	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:111616005C>T	ENST00000261486.5	-	3	496	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A			34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)			AGGGTTTTTGCAGGATCCAGC	0.338000																								0							SO:0001583	missense			ENST00000261486.5	0	1	hg19	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	9.117	1.008081	0.19199	.	.	ENSG00000129595	ENST00000261486	T	0.76709	-1.04	5.95	4.08	0.47627	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.284025	0.35262	N	0.003333	T	0.55337	0.1914	N	0.11000	0.08	0.29488	N	0.855849	B	0.18461	0.028	B	0.17722	0.019	T	0.47209	-0.9135	10	0.27082	T	0.32	.	6.3895	0.21579	0.149:0.6989:0.0:0.1521	.	74	Q9HCS5	E41LA_HUMAN	T	74	ENSP00000261486:A74T	ENSP00000261486:A74T	A	-	1	0	EPB41L4A	111643904	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.000000	0.29770	1.524000	0.49035	0.655000	0.94253	GCA		TCGA-2J-AAB9-01A-11D-A40W-08	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1	0	0	0	7	784	1	200	0	6.729738e-04	0	4	1	200	2		0	0	0	0	0	2	0	0.063656	7	780	1	196	15								-1.817398	0	1	0	0		1	0	0	0	1.975219	0	0.100000	2.020000	0.083503	0.180000	0.070000	0.340000	0.170000	0.195387	0.180000	0	0.120000	0.260000
PCDHA3	56145	broad.mit.edu	37	5	140183013	140183013	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:140183013C>T	ENST00000522353.2	+	1	2231	c.2231C>T	c.(2230-2232)gCg>gTg	p.A744V	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A744V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3			95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGCTCCAGCGCGGTGGGGAGC	0.637000																								0							SO:0001583	missense			ENST00000522353.2	1	1	hg19	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999339	0.74818	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.76709	-1.04;-1.04	4.16	3.22	0.36961	.	0.177603	0.26187	U	0.025825	D	0.85974	0.5822	M	0.93550	3.43	0.21020	N	0.999808	D;P	0.62365	0.991;0.714	P;B	0.56216	0.794;0.285	T	0.77048	-0.2732	10	0.34782	T	0.22	.	7.9252	0.29870	0.2451:0.6621:0.0:0.0928	.	744;744	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	744	ENSP00000429808:A744V;ENSP00000434086:A744V	ENSP00000429808:A744V	A	+	2	0	PCDHA3	140163197	0.005000	0.15991	1.000000	0.80357	0.975000	0.68041	0.359000	0.20233	2.039000	0.60335	0.467000	0.42956	GCG		TCGA-2J-AAB9-01A-11D-A40W-08	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	1	0	0	23	476	0	104	0	2.385667e-03	0	2	0	104	2		0	0	0	0	0	2	1	0.999999	23	464	0	102	2								-4.890256	1	1	0	0		1	0	0	0	1.975219	0	0.100000	2.020000	0.083503	0.900000	0.590000	1.000000	1.000000	0.878971	0.900000	1	0.730000	1.000000
TXLNB	167838	broad.mit.edu	37	6	139563774	139563774	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:139563774G>A	ENST00000358430.3	-	10	2176	c.1944C>T	c.(1942-1944)tgC>tgT	p.C648C	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta			37					TACTGGGCTCGCATGCAGGCA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000358430.3	1	1	hg19	CCDS34545.1																																																																																				TCGA-2J-AAB9-01A-11D-A40W-08	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	0	0	0	16	658	1	99		0	0	0	1	99	2		0	0	0	0	0	2	0	0.180870	16	640	1	93	22								-2.696289	1	1	0	0		1	1	9	10	2.842403	1	0.100000	2.020000	0.357143	0.680000	0.390000	1.000000	1.000000	0.697189	0.680000	0	0.520000	0.870000
SYNJ2	8871	broad.mit.edu	37	6	158484842	158484842	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:158484842C>T	ENST00000355585.4	+	9	1222	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SYNJ2_ENST00000367122.2_Missense_Mutation_p.R383W|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R311W|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R383W	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2			46					AGGCACTTTGCGGATGAACTG	0.502000																								0							SO:0001583	missense			ENST00000355585.4	0	1	hg19	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188294	0.78789	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.98	4.98	0.66077	Synaptojanin, N-terminal (1);	0.000000	0.56097	D	0.000035	T	0.68805	0.3041	H	0.99668	4.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;0.999	D	0.85064	0.0936	10	0.87932	D	0	.	18.3154	0.90218	0.0:1.0:0.0:0.0	.	311;383;383;383	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	W	383;383;383;311	ENSP00000356089:R383W;ENSP00000356088:R383W;ENSP00000347792:R383W;ENSP00000388371:R311W	ENSP00000347792:R383W	R	+	1	2	SYNJ2	158404830	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.324000	0.52022	2.327000	0.79052	0.456000	0.33151	CGG		TCGA-2J-AAB9-01A-11D-A40W-08	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2	0	0	0	6	526	0	113	0	1.153527e-02	0	12	0	113	2		0	0	0	0	0	2	1	0.963261	7	516	0	111	2								-1.967216	0	1	121412	3	40	1	0	1	1	1.921593	0	0.100000	2.020000	0.064935	0.220000	0.090000	0.440000	0.210000	0.245516	0.220000	0	0.150000	0.330000
HIST1H2BE	8344	broad.mit.edu	37	6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be			4					ATCTTCGAGCGCATCGCCGGC	0.597000																								0							SO:0001583	missense			ENST00000356530.3	0	1	hg19	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	14.91	2.676040	0.47886	.	.	ENSG00000197697	ENST00000356530	T	0.69561	-0.41	4.96	4.96	0.65561	.	0.000000	0.34555	U	0.003862	T	0.73560	0.3602	.	.	.	0.52501	D	0.999953	.	.	.	.	.	.	T	0.74734	-0.3565	7	0.49607	T	0.09	.	17.6163	0.88068	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000348924:R73H	ENSP00000348924:R73H	R	+	2	0	HIST1H2BE	26292220	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	7.562000	0.82300	2.479000	0.83701	0.537000	0.68136	CGC		TCGA-2J-AAB9-01A-11D-A40W-08	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	0	0	0	7	758	0	128	0	0	0	1	0	128	2		0	0	0	0	0	2	1	0.978422	7	735	0	127	2								-1.790174	0	1	0	0		1	0	1	1	1.959608	0	0.100000	2.020000	0.081633	0.180000	0.080000	0.350000	0.180000	0.201434	0.180000	0	0.120000	0.270000
TRIP6	7205	broad.mit.edu	37	7	100466383	100466383	+	Silent	SNP	G	G	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:100466383G>T	ENST00000200457.4	+	4	990	c.630G>T	c.(628-630)ggG>ggT	p.G210G		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6			14	Lung NSC(181;0.041)|all_lung(186;0.0581)				AAGTCTGGGGGCCTGGCTATA	0.701000																								0							SO:0001819	synonymous_variant			ENST00000200457.4	1	1	hg19	CCDS5708.1																																																																																				TCGA-2J-AAB9-01A-11D-A40W-08	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	1	0	1	8	98	0	30	1	9.805972e-01	26	63	0	30	2		0	0	0	0	0	2	1	0.989896	8	97	0	28	2								-13.072860	1	1	120162	1	29	1	1	2	3	2.025660	0	0.100000	2.020000	0.111550	0.990000	0.750000	1.000000	1.000000	0.983687	0.990000	1	0.990000	1.000000
SSPO	23145	broad.mit.edu	37	7	149477126	149477126	+	RNA	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:149477126C>T	ENST00000378016.2	+	0	1303							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		GCAAGAGGGGCGGCAGCAGGC	0.637000																								0											ENST00000378016.2	0	1	hg19																																																																																					TCGA-2J-AAB9-01A-11D-A40W-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	5	74	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	0.937555	5	73	0	13	2								-9.539402	1	1	120664	13	39	1	1	2	3	2.040487	0	0.100000	2.020000	0.115044	0.990000	0.540000	1.000000	1.000000	0.951540	0.990000	1	0.900000	1.000000
ABCB1	5243	broad.mit.edu	37	7	87190672	87190672	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:87190672A>G	ENST00000265724.3	-	9	1151	c.734T>C	c.(733-735)tTa>tCa	p.L245S	ABCB1_ENST00000543898.1_Missense_Mutation_p.L181S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1			111	Esophageal squamous(14;0.00164)			Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TGCATACGCTAAGAGTTCTTT	0.318000																								0							SO:0001583	missense			ENST00000265724.3	1	1	hg19	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	1.804	-0.476462	0.04414	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88896	-2.44;-2.44	5.74	-1.39	0.08997	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.288110	0.05571	N	0.571119	T	0.68879	0.3049	N	0.02368	-0.58	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.13407	0.0;0.009	T	0.60265	-0.7297	10	0.09338	T	0.73	0.2998	4.5323	0.12011	0.2258:0.0:0.2567:0.5174	.	181;245	B5AK60;P08183	.;MDR1_HUMAN	S	26;245;181	ENSP00000265724:L245S;ENSP00000444095:L181S	ENSP00000265724:L245S	L	-	2	0	ABCB1	87028608	0.000000	0.05858	0.034000	0.17996	0.760000	0.43138	0.871000	0.28023	-0.139000	0.11414	-0.336000	0.08194	TTA		TCGA-2J-AAB9-01A-11D-A40W-08	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	1	0	0	10	185	0	41	0	1.858242e-02	0	4	0	41	2		0	0	0	0	0	2	1	0.996953	10	183	0	39	2								-13.362400	1	1	0	0		1	1	2	3	2.025660	0	0.100000	2.020000	0.111550	0.990000	0.560000	1.000000	1.000000	0.931651	0.990000	1	0.800000	1.000000
VPS13B	157680	broad.mit.edu	37	8	100729436	100729436	+	Silent	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:100729436C>T	ENST00000358544.2	+	37	6678	c.6567C>T	c.(6565-6567)aaC>aaT	p.N2189N	VPS13B_ENST00000357162.2_Silent_p.N2164N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)			193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)		TCAGTATAAACGATTTTCTCC	0.353000													Colon(161;2205 2542 7338 31318)											0							SO:0001819	synonymous_variant			ENST00000358544.2	1	1	hg19	CCDS6280.1																																																																																				TCGA-2J-AAB9-01A-11D-A40W-08	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	0	15	209	0	45	1	1.506866e-02	2	1	0	45	2		0	0	0	0	0	2	1	0.999885	15	208	0	42	2								-6.173016	1	1	121404	2	25	1	0	1	1	1.996969	0	0.100000	2.020000	0.094112	0.990000	0.770000	1.000000	1.000000	0.982189	0.990000	1	0.990000	1.000000
KCNS2	3788	broad.mit.edu	37	8	99440470	99440470	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:99440470G>A	ENST00000287042.4	+	2	613	c.263G>A	c.(262-264)gGc>gAc	p.G88D	KCNS2_ENST00000521839.1_Missense_Mutation_p.G88D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	p.G88D(1)		31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)		TATCACACCGGCAAGCTTCAC	0.542000													Pancreas(138;844 2489 9202 24627)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000287042.4	0	1	hg19	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376631	0.82682	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.55930	0.49;0.49	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.055844	0.64402	D	0.000001	T	0.80864	0.4705	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85918	0.1444	10	0.87932	D	0	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	88	Q9ULS6	KCNS2_HUMAN	D	88	ENSP00000287042:G88D;ENSP00000430712:G88D	ENSP00000287042:G88D	G	+	2	0	KCNS2	99509646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.527000	0.85204	0.563000	0.77884	GGC		TCGA-2J-AAB9-01A-11D-A40W-08	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	0	0	0	6	453	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	0.963996	6	448	0	89	2								-2.133737	0	1	0	0		1	0	1	1	1.996969	0	0.100000	2.020000	0.094112	0.270000	0.110000	0.520000	0.250000	0.295399	0.270000	0	0.180000	0.400000
L1CAM	3897	broad.mit.edu	37	X	153130847	153130847	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	p.R886W(1)		81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				CTATAGGGCCGCAAGCCACTG	0.612000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000370060.1	0	1	hg19	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695980	0.30052	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.33	1.51	0.23008	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.290733	0.23770	N	0.044730	T	0.49575	0.1565	M	0.68952	2.095	0.39443	D	0.967286	B;B;B	0.26195	0.065;0.144;0.048	B;B;B	0.25405	0.025;0.06;0.043	T	0.43491	-0.9388	10	0.54805	T	0.06	.	5.1621	0.15066	0.1693:0.0:0.2808:0.5499	.	881;886;886	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	886;888;886;888;881;881;886	ENSP00000359077:R886W;ENSP00000438430:R888W;ENSP00000359074:R886W;ENSP00000439645:R888W;ENSP00000354712:R881W;ENSP00000359072:R881W;ENSP00000355380:R886W	ENSP00000355380:R886W	R	-	1	2	L1CAM	152784041	0.135000	0.22499	0.333000	0.25482	0.410000	0.31052	1.255000	0.32909	0.105000	0.17753	0.529000	0.55759	CGG		TCGA-2J-AAB9-01A-11D-A40W-08	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	0	0	0	6	618	0	116	0	4.239339e-04	0	3	0	116	2	0	9.331763e-01	0	499	0	488	2	1	0.962188	6	602	0	111	2								-1.565663	0	1	121410	5	41	1	0	1	1			0.100000	2.020000	0.100000	0.200000	0.080000	0.390000	0.190000	0.220406	0.200000	0	0.130000	0.300000
DMD	1756	broad.mit.edu	37	X	31525402	31525402	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:31525402T>A	ENST00000357033.4	-	56	8592	c.8386A>T	c.(8386-8388)Att>Ttt	p.I2796F	DMD_ENST00000474231.1_Missense_Mutation_p.I336F|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.I336F|DMD_ENST00000541735.1_Missense_Mutation_p.I336F|DMD_ENST00000343523.2_Missense_Mutation_p.I336F|DMD_ENST00000378677.2_Missense_Mutation_p.I2792F|DMD_ENST00000359836.1_Missense_Mutation_p.I336F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin			77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)			TCCTACCTAATGTTGAGAGAC	0.408000																								0							SO:0001583	missense			ENST00000357033.4	1	1	hg19	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.85|19.85	3.903073|3.903073	0.72754|0.72754	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.37304	.|U	.|0.002147	T|T	0.69287|0.69287	0.3094|0.3094	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.994;0.994;0.993;0.994;0.994;0.989;0.996;0.996;0.997;0.993;1.0	.|P;D;D;D;D;D;D;D;D;P;D	.|0.76575	.|0.791;0.917;0.912;0.917;0.917;0.949;0.978;0.978;0.917;0.865;0.988	T|T	0.72491|0.72491	-0.4277|-0.4277	5|10	.|0.54805	.|T	.|0.06	.|.	14.9992|14.9992	0.71459|0.71459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2788;2796;2792;1455;1452;336;336;336;336;336;2673	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	L|F	524|2788;1455;1452;492;2792;2796;336;336;2796;2673;336;336;336	.|ENSP00000350765:I492F;ENSP00000367948:I2792F;ENSP00000354923:I2796F;ENSP00000352894:I336F;ENSP00000340057:I336F;ENSP00000367979:I336F;ENSP00000444119:I336F;ENSP00000417123:I336F	.|ENSP00000340057:I336F	H|I	-|-	2|1	0|0	DMD|DMD	31435323|31435323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.220000|5.220000	0.65267|0.65267	1.924000|1.924000	0.55735|0.55735	0.481000|0.481000	0.45027|0.45027	CAT|ATT		TCGA-2J-AAB9-01A-11D-A40W-08	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	1	0	0	17	283	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	0.999964	17	278	0	81	2								-19.727000	1	1	0	0		1	0	1	1			0.100000	2.020000	0.100000	0.990000	0.690000	1.000000	1.000000	0.959545	0.990000	1	0.890000	1.000000
KDM6A	7403	broad.mit.edu	37	X	44928823	44928823	+	Splice_Site	SNP	G	G	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:44928823G>T	ENST00000377967.4	+	17	1964		c.e17-1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	p.0?(6)		170					TTTCTTTTTAGGGGCTTCACA	0.378000			D, N, F, S		renal, oesophageal SCC, MM								Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	lysine (K)-specific demethylase 6A, UTX		E, L	6	Whole gene deletion(6)						SO:0001630	splice_region_variant			ENST00000377967.4	1	1	hg19	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360767	0.61403	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9308	0.88996	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44813767	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.114000	0.94329	2.255000	0.74692	0.600000	0.82982	.		TCGA-2J-AAB9-01A-11D-A40W-08	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	1	0	0	8	149	0	38		0	0	0	0	38	2	1	9.998065e-01	46	641	1	731	6	1	0.989685	8	148	0	37	2								-2.934003	1	1	0	0		1	0	1	1			0.100000	2.020000	0.100000	0.990000	0.490000	1.000000	1.000000	0.898247	0.990000	1	0.720000	1.000000
