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
SFXN3	81855	broad.mit.edu	37	10	102795364	102795364	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:102795364G>A	ENST00000224807.5	+	4	740	c.284G>A	c.(283-285)cGc>cAc	p.R95H	SFXN3_ENST00000393459.1_Missense_Mutation_p.R91H	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	p.R95H(1)		9		Colorectal(252;0.234)			CTGATTGGCCGCATGTCAGCC	0.587000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000224807.5	0	1	hg19	CCDS7508.2	.	.	.	.	.	.	.	.	.	.	G	31	5.093229	0.94149	.	.	ENSG00000107819	ENST00000393459;ENST00000224807	T;T	0.57595	0.39;0.39	5.11	4.19	0.49359	.	0.103262	0.64402	D	0.000005	T	0.80237	0.4586	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.995	D	0.86037	0.1517	10	0.87932	D	0	-15.974	14.1571	0.65424	0.0737:0.0:0.9262:0.0	.	95;95;95	B4DRS6;A6NCZ6;Q9BWM7	.;.;SFXN3_HUMAN	H	91;95	ENSP00000377103:R91H;ENSP00000224807:R95H	ENSP00000224807:R95H	R	+	2	0	SFXN3	102785354	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.802000	0.85969	2.652000	0.90054	0.561000	0.74099	CGC		TCGA-3A-A9IH-01A-12D-A397-08	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	4	176	0	45	0	9.298228e-01	0	217	0	45	2		0	0	0	0	0	2	1	0.887304	4	173	0	45	2		0	0	0	0	0	2	-2.814175	1	1	121412	2	30	1	1	2	3	2.133133	0	0.510000	1.830000	0.514948	0.090000	2.000000e-02	1.000000	0.090000	0.133924	0.090000	0	5.000000e-02	1.600000e-01
LRRC27	80313	broad.mit.edu	37	10	134155718	134155718	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:134155718C>T	ENST00000368614.3	+	4	448	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	LRRC27_ENST00000368610.3_Splice_Site_p.H53Y|LRRC27_ENST00000356571.4_Intron|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000368615.3_Splice_Site_p.H115Y|LRRC27_ENST00000368612.1_Splice_Site_p.H53Y|LRRC27_ENST00000344079.5_Splice_Site_p.H115Y|LRRC27_ENST00000392638.2_Splice_Site_p.H115Y|LRRC27_ENST00000368613.4_Splice_Site_p.H115Y	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27			18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)			GCTTTAAAGGCATTTGAAAAC	0.264000																								0							SO:0001630	splice_region_variant			ENST00000368614.3	0	0	hg19	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848731	0.32699	.	.	ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33	4.76	2.75	0.32379	.	0.153086	0.30999	N	0.008452	T	0.41050	0.1142	L	0.39326	1.205	0.80722	D	1	B;B;B;B	0.32350	0.113;0.166;0.263;0.366	B;B;B;B	0.27796	0.031;0.063;0.052;0.083	T	0.32025	-0.9922	10	0.44086	T	0.13	-13.2043	5.8781	0.18840	0.0:0.7451:0.0:0.2549	.	115;53;115;115	Q9C0I9-4;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.;.;LRC27_HUMAN;.	Y	115;115;115;115;115;53;53	ENSP00000357604:H115Y;ENSP00000376413:H115Y;ENSP00000342641:H115Y;ENSP00000357603:H115Y;ENSP00000357602:H115Y;ENSP00000357601:H53Y;ENSP00000357599:H53Y	ENSP00000342641:H115Y	H	+	1	0	LRRC27	134005708	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	0.824000	0.27379	1.177000	0.42855	0.655000	0.94253	CAT		TCGA-3A-A9IH-01A-12D-A397-08	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	1	0	1	22	66	0	9	0	5.618123e-01	1	6	0	9	2		0	0	0	0	0	2	1	1.000000	22	65	0	9	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.109540	0	0.510000	1.830000	0.512486	0.980000	6.600000e-01	1.000000	1.000000	0.927726	0.980000	1	8.100000e-01	1
ABCC8	6833	broad.mit.edu	37	11	17415843	17415843	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:17415843G>A	ENST00000389817.3	-	37	4583	c.4515C>T	c.(4513-4515)gaC>gaT	p.D1505D	ABCC8_ENST00000302539.4_Silent_p.D1506D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8			67				Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCGTGGCCTCGTCCATGATGA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000389817.3	1	1	hg19	CCDS31437.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	1	0	1	99	443	0	127	0	1	0	147	0	127	2		0	0	0	0	0	2	1	1.000000	99	441	0	127	2		0	0	0	0	0	2	-20.000000	1	1	121412	5	41	1	1	2	3	2.127426	0	0.510000	1.830000	0.514948	0.720000	5.900000e-01	1.000000	0.720000	0.734824	0.720000	0	6.500000e-01	8.000000e-01
OR51T1	401665	broad.mit.edu	37	11	4903766	4903766	+	Missense_Mutation	SNP	G	G	A	rs139706082	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:4903766G>A	ENST00000322049.1	+	1	637	c.637G>A	c.(637-639)Gta>Ata	p.V213I	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.V240I|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1			34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			TGGCACTGACGTATTGTTTAT	0.438000																								0							SO:0001583	missense			ENST00000322049.1	1	0	hg19		11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	0.081	-1.183413	0.01620	0.006815	2.33E-4	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.37752	1.18;1.18	4.99	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.230017	0.22233	N	0.062799	T	0.08846	0.0219	N	0.12831	0.26	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15378	-1.0439	10	0.27785	T	0.31	.	6.7962	0.23727	0.0:0.08:0.2905:0.6295	.	213	Q8NGJ9	O51T1_HUMAN	I	240;213	ENSP00000369738:V240I;ENSP00000322679:V213I	ENSP00000322679:V213I	V	+	1	0	OR51T1	4860342	0.000000	0.05858	0.685000	0.30070	0.043000	0.13939	-0.071000	0.11505	0.363000	0.24346	-0.749000	0.03505	GTA		TCGA-3A-A9IH-01A-12D-A397-08	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	1	0	1	88	296	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1.000000	88	291	0	49	2		0	0	0	0	0	2	-2.749776	1	1	121408	94	53	1	1	2	3	2.127426	0	0.510000	1.830000	0.514948	0.900000	7.400000e-01	1.000000	1.000000	0.907027	0.900000	1	8.200000e-01	1
OR52A4	390053	broad.mit.edu	37	11	5142557	5142557	+	RNA	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:5142557C>A	ENST00000498233.1	-	0	841							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4			22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)			TATCAAGCATCTTGGGCACAA	0.438000																								0											ENST00000498233.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.16	2.154681	0.38021	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.18	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.32133	0.0819	.	.	.	0.23056	N	0.998369	B	0.34290	0.447	B	0.38921	0.285	T	0.38714	-0.9648	6	0.51188	T	0.08	.	3.4013	0.07324	0.0:0.378:0.2029:0.4191	.	84	A6NMU1	O52A4_HUMAN	N	84	.	ENSP00000369727:K84N	K	-	3	2	OR52A4	5099133	0.000000	0.05858	0.999000	0.59377	0.987000	0.75469	-3.743000	0.00378	0.647000	0.30713	0.650000	0.86243	AAG		TCGA-3A-A9IH-01A-12D-A397-08	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	0	0	0	70	196	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1.000000	69	196	0	27	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.127426	0	0.510000	1.830000	0.514948	0.990000	8.400000e-01	1.000000	1.000000	0.977580	0.990000	1	9.300000e-01	1
XRRA1	143570	broad.mit.edu	37	11	74559225	74559225	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:74559225G>A	ENST00000340360.6	-	15	1970	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000527087.1_Missense_Mutation_p.R460C|XRRA1_ENST00000321448.8_Missense_Mutation_p.R272C	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1			20					GGGCTGAGGCGGACAGTTGTG	0.592000																								0							SO:0001583	missense			ENST00000340360.6	1	1	hg19	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575885	0.65878	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.52526	0.66;1.41;0.67	4.29	4.29	0.51040	.	1.095810	0.06941	N	0.812752	T	0.58779	0.2146	L	0.51422	1.61	0.09310	N	0.999993	D;D;D;D;D;D;D	0.71674	0.968;0.998;0.995;0.987;0.995;0.994;0.995	B;P;P;P;P;P;P	0.56700	0.232;0.804;0.629;0.534;0.528;0.502;0.528	T	0.49184	-0.8966	10	0.42905	T	0.14	0.0617	12.5443	0.56190	0.0:0.0:1.0:0.0	.	547;149;103;460;491;157;533	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	C	547;272;533;491;460	ENSP00000339918:R547C;ENSP00000319303:R272C;ENSP00000435838:R460C	ENSP00000319303:R272C	R	-	1	0	XRRA1	74236873	0.009000	0.17119	0.162000	0.22713	0.094000	0.18550	1.762000	0.38451	2.678000	0.91216	0.591000	0.81541	CGC		TCGA-3A-A9IH-01A-12D-A397-08	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	1	0	1	43	128	0	26	1	9.886444e-01	12	12	0	26	2		0	0	0	0	0	2	1	1.000000	43	126	0	26	2		0	0	0	0	0	2	-4.671137	1	1	121190	4	37	1	1	2	3	2.127426	0	0.510000	1.830000	0.514948	0.990000	7.500000e-01	1.000000	1.000000	0.950526	0.990000	1	8.600000e-01	1
FAT3	120114	broad.mit.edu	37	11	92538476	92538476	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:92538476C>T	ENST00000298047.6	+	10	9071	c.9054C>T	c.(9052-9054)agC>agT	p.S3018S	FAT3_ENST00000525166.1_Silent_p.S2868S|FAT3_ENST00000409404.2_Silent_p.S3018S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			TGGAAGTGAGCGTCAGTGATG	0.438000										TCGA Ovarian(4;0.039)														0							SO:0001819	synonymous_variant			ENST00000298047.6	0	1	hg19																																																																																					TCGA-3A-A9IH-01A-12D-A397-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	10	101	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	0.997053	10	99	0	21	2		0	0	0	0	0	2	-5.763831	1	1	120870	1	31	1	1	2	3	2.127426	0	0.510000	1.830000	0.514948	0.370000	1.900000e-01	1.000000	0.350000	0.400173	0.370000	0	2.700000e-01	5.000000e-01
ABCC9	10060	broad.mit.edu	37	12	22063212	22063212	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:22063212G>A	ENST00000261201.4	-	8	1198	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	ABCC9_ENST00000345162.2_Missense_Mutation_p.T400M|ABCC9_ENST00000261200.4_Missense_Mutation_p.T400M	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9			118				Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TAAGTTAGACGTAGAGAGCCT	0.348000																								0							SO:0001583	missense			ENST00000261201.4	1	1	hg19	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642321	0.87859	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.66	5.66	0.87406	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.70016	0.967;0.897	D	0.93643	0.6966	10	0.87932	D	0	-17.543	19.7509	0.96268	0.0:0.0:1.0:0.0	.	400;400	O60706;O60706-2	ABCC9_HUMAN;.	M	400;63;400;400	ENSP00000261200:T400M;ENSP00000440521:T63M;ENSP00000261201:T400M;ENSP00000261202:T400M	ENSP00000261200:T400M	T	-	2	0	ABCC9	21954479	1.000000	0.71417	0.975000	0.42487	0.954000	0.61252	9.852000	0.99516	2.664000	0.90586	0.650000	0.86243	ACG		TCGA-3A-A9IH-01A-12D-A397-08	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	1	0	1	106	266	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	1.000000	103	265	0	62	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.838630	1	0.510000	1.830000	0.416215	0.930000	7.800000e-01	1.000000	1.000000	0.928792	0.930000	1	8.500000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	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	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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-3A-A9IH-01A-12D-A397-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	46	237	0	64	1	9.674765e-01	16	15	0	64	2	1	1	42	203	0	223	2	1	1.000000	44	236	0	64	2	1	1	2550	5470	5	8002	21	-19.999920	1	1	0	0		1						0.510000	1.830000									0	0
RACGAP1	29127	broad.mit.edu	37	12	50410450	50410450	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:50410450G>A	ENST00000427314.2	-	4	272	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	RACGAP1_ENST00000547905.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R17C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R17C	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1			14					TCCACCCGGCGCACAAGCTGC	0.438000																								0							SO:0001583	missense			ENST00000427314.2	0	1	hg19	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099325	0.76983	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000546764;ENST00000551876;ENST00000549777;ENST00000550651;ENST00000552004	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.7	4.81	0.61882	.	0.320727	0.37715	N	0.001971	T	0.76535	0.4001	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	P	0.52957	0.714	T	0.79923	-0.1598	10	0.87932	D	0	-2.9543	14.6535	0.68814	0.0695:0.0:0.9304:0.0	.	17	Q9H0H5	RGAP1_HUMAN	C	17;17;17;17;17;17;17;17;29;17;17;17;17;17;17;17	ENSP00000404190:R17C;ENSP00000309871:R17C;ENSP00000413241:R17C;ENSP00000404808:R17C;ENSP00000449374:R17C;ENSP00000449370:R17C;ENSP00000448697:R17C;ENSP00000449170:R17C;ENSP00000449620:R29C;ENSP00000449669:R17C;ENSP00000447393:R17C;ENSP00000447177:R17C;ENSP00000449186:R17C;ENSP00000448707:R17C;ENSP00000449959:R17C;ENSP00000448136:R17C	ENSP00000309871:R17C	R	-	1	0	RACGAP1	48696717	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.287000	0.72671	1.411000	0.46957	0.650000	0.86243	CGC		TCGA-3A-A9IH-01A-12D-A397-08	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	0	0	0	5	573	0	134	0	7.510071e-03	0	12	0	134	2		0	0	0	0	0	2	1	0.936640	5	569	0	130	2		0	0	0	0	0	2	-1.797173	0	1	0	0		1	0	1	1	1.805806	1	0.510000	1.830000	0.412646	0.020000	0	0.060000	0.030000	0.033684	0.020000	0	1.000000e-02	5.000000e-02
SRGAP1	57522	broad.mit.edu	37	12	64377799	64377799	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:64377799A>G	ENST00000355086.3	+	2	664	c.140A>G	c.(139-141)cAg>cGg	p.Q47R	SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q47R|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q7R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1			65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)		CAGCTTCTCCAGGATCTGCAA	0.433000																								0							SO:0001583	missense			ENST00000355086.3	1	1	hg19	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686291	0.88639	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.42513	0.97;0.97;2.57	5.1	5.1	0.69264	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.33691	U	0.004654	T	0.55625	0.1932	M	0.69358	2.11	0.80722	D	1	P;B;B	0.38020	0.615;0.096;0.185	P;B;B	0.50270	0.636;0.106;0.14	T	0.54111	-0.8342	9	.	.	.	.	15.199	0.73120	1.0:0.0:0.0:0.0	.	47;7;47	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	R	47;47;7	ENSP00000347198:Q47R;ENSP00000350480:Q47R;ENSP00000437948:Q7R	.	Q	+	2	0	SRGAP1	62664066	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.262000	0.95591	2.060000	0.61445	0.477000	0.44152	CAG		TCGA-3A-A9IH-01A-12D-A397-08	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	1	0	0	33	488	0	81	0	1.357240e-01	0	10	0	81	2		0	0	0	0	0	2	1	1.000000	33	486	0	81	2		0	0	0	0	0	2	-7.617048	1	1	0	0		1	1	2	3	2.456226	1	0.510000	1.830000	0.569306	0.300000	2.000000e-01	1.000000	0.280000	0.460742	0.300000	0	2.400000e-01	1
SYT1	6857	broad.mit.edu	37	12	79679566	79679566	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:79679566G>A	ENST00000261205.4	+	5	823		c.e5-1		SYT1_ENST00000552744.1_Splice_Site|SYT1_ENST00000393240.3_Splice_Site|SYT1_ENST00000457153.2_Splice_Site	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I			25					GTTTCTTTCAGTGCCACCGTG	0.368000																								0							SO:0001630	splice_region_variant			ENST00000261205.4	1	1	hg19	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994229	0.93167	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYT1	78203697	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	.		TCGA-3A-A9IH-01A-12D-A397-08	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	1	0	1	45	245	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1.000000	45	241	0	49	2		0	0	0	0	0	2	-19.998250	1	1	0	0		1	2	2	4	2.267788	1	0.510000	1.830000	0.549094	0.670000	5.000000e-01	1.000000	0.660000	0.713237	0.670000	0	5.800000e-01	8.500000e-01
TUBGCP3	10426	broad.mit.edu	37	13	113140311	113140311	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:113140311G>A	ENST00000261965.3	-	22	2906	c.2720C>T	c.(2719-2721)aCg>aTg	p.T907M		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3			25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)				CGAGCTTCACGTGTGGGAGCT	0.597000																								0							SO:0001583	missense			ENST00000261965.3	1	1	hg19	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152609	0.38021	.	.	ENSG00000126216	ENST00000261965	T	0.24350	1.86	4.64	1.7	0.24286	.	0.391386	0.28618	N	0.014706	T	0.11324	0.0276	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.001	T	0.09465	-1.0673	10	0.41790	T	0.15	.	6.8525	0.24022	0.5149:0.0:0.4851:0.0	.	897;907	B4DYP7;Q96CW5	.;GCP3_HUMAN	M	907	ENSP00000261965:T907M	ENSP00000261965:T907M	T	-	2	0	TUBGCP3	112188312	1.000000	0.71417	0.566000	0.28421	0.740000	0.42216	3.101000	0.50283	0.420000	0.25954	0.655000	0.94253	ACG		TCGA-3A-A9IH-01A-12D-A397-08	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	1	0	0	33	99	0	33	1	9.843918e-01	6	17	0	33	2		0	0	0	0	0	2	1	1.000000	33	91	0	44	2		0	0	0	0	0	2	-20.000000	1	1	120998	6	32	1	1	2	3	2.115587	0	0.510000	1.830000	0.512486	0.980000	7.100000e-01	1.000000	1.000000	0.938381	0.980000	1	8.400000e-01	1
FRY	10129	broad.mit.edu	37	13	32759255	32759255	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:32759255A>G	ENST00000380250.3	+	26	3785	c.3289A>G	c.(3289-3291)Atg>Gtg	p.M1097V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)			132		Lung SC(185;0.0271)			TTTTAGTGCAATGGTGGCCAA	0.413000																								0							SO:0001583	missense			ENST00000380250.3	1	1	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.755504	0.49362	.	.	ENSG00000073910	ENST00000380250	T	0.22134	1.97	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.36672	1.1	0.80722	D	1	B	0.29716	0.255	B	0.26969	0.075	T	0.04242	-1.0966	10	0.24483	T	0.36	.	15.6626	0.77199	1.0:0.0:0.0:0.0	.	1097	Q5TBA9	FRY_HUMAN	V	1097	ENSP00000369600:M1097V	ENSP00000369600:M1097V	M	+	1	0	FRY	31657255	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.191000	0.77763	2.161000	0.67846	0.528000	0.53228	ATG		TCGA-3A-A9IH-01A-12D-A397-08	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	1	0	1	81	322	0	71	1	6.814830e-01	5	6	0	71	2		0	0	0	0	0	2	1	1.000000	81	320	0	69	2		0	0	0	0	0	2	-20.000000	1	1	120866	3	36	1	1	2	3	2.115587	0	0.510000	1.830000	0.512486	0.790000	6.400000e-01	0.970000	0.790000	0.797971	0.790000	0	7.100000e-01	8.800000e-01
DHRS4	10901	broad.mit.edu	37	14	24429144	24429144	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr14:24429144G>C	ENST00000313250.5	+	3	543	c.340G>C	c.(340-342)Gtc>Ctc	p.V114L	DHRS4_ENST00000397075.3_Missense_Mutation_p.V114L|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000382761.3_Missense_Mutation_p.V96L|DHRS4_ENST00000558263.1_Missense_Mutation_p.V114L|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Missense_Mutation_p.V114L|DHRS4_ENST00000308178.8_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4			14				Vitamin A(DB00162)	CGATATCCTAGTCTCCAATGC	0.522000																								0							SO:0001583	missense			ENST00000313250.5	1	1	hg19	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	12.86	2.065559	0.36470	.	.	ENSG00000157326	ENST00000313250;ENST00000382761;ENST00000397075;ENST00000543741	T;T;D;T	0.90444	0.62;1.22;-2.67;1.22	3.1	1.21	0.21127	NAD(P)-binding domain (1);	0.130045	0.51477	D	0.000095	D	0.93595	0.7955	M	0.88979	2.995	0.45452	D	0.998421	P;P;P;P	0.41569	0.514;0.59;0.663;0.755	B;P;B;P	0.54544	0.329;0.51;0.346;0.755	D	0.91433	0.5167	10	0.66056	D	0.02	.	7.0353	0.24991	0.2376:0.0:0.7624:0.0	.	114;114;114;114	F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2	.;.;.;DHRS4_HUMAN	L	114;96;114;114	ENSP00000326219:V114L;ENSP00000372209:V96L;ENSP00000380265:V114L;ENSP00000440508:V114L	ENSP00000326219:V114L	V	+	1	0	DHRS4	23498984	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	3.267000	0.51577	0.166000	0.19597	0.555000	0.69702	GTC		TCGA-3A-A9IH-01A-12D-A397-08	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3	1	0	0	62	1442	0	406	1	4.171046e-01	3	31	0	406	2		0	0	0	0	0	2	1	1.000000	56	1382	0	412	2		0	0	0	0	0	2	-5.131537	1	1	0	0		1	0	1	1	1.616651	1	0.510000	1.830000	0.344525	0.110000	8.000000e-02	0.150000	0.120000	0.122475	0.110000	0	1.000000e-01	1.400000e-01
GABRB3	2562	broad.mit.edu	37	15	26866539	26866539	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:26866539T>A	ENST00000311550.5	-	4	494	c.383A>T	c.(382-384)aAg>aTg	p.K128M	GABRB3_ENST00000541819.2_Missense_Mutation_p.K184M|GABRB3_ENST00000299267.4_Missense_Mutation_p.K128M|GABRB3_ENST00000545868.1_Missense_Mutation_p.K43M|GABRB3_ENST00000400188.3_Missense_Mutation_p.K57M	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3			68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CACAAATGACTTTTTGTCATT	0.502000																								0							SO:0001583	missense			ENST00000311550.5	1	1	hg19	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	31	5.063482	0.93898	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.77	5.77	0.91146	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88786	0.6531	M	0.85542	2.76	0.80722	D	1	P;D;D	0.71674	0.717;0.998;0.998	P;D;D	0.70016	0.454;0.917;0.967	D	0.90410	0.4409	10	0.72032	D	0.01	.	15.3309	0.74208	0.0:0.0:0.0:1.0	.	184;128;128	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	M	128;184;128;57;43;43	ENSP00000308725:K128M;ENSP00000442408:K184M;ENSP00000299267:K128M;ENSP00000383049:K57M;ENSP00000439169:K43M;ENSP00000452272:K43M	ENSP00000299267:K128M	K	-	2	0	GABRB3	24417632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.880000	0.87243	2.218000	0.71995	0.378000	0.23410	AAG		TCGA-3A-A9IH-01A-12D-A397-08	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2	1	0	1	130	334	0	82	0	9.328887e-01	0	14	0	82	2		0	0	0	0	0	2	1	1.000000	130	330	0	80	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.109746	0	0.510000	1.830000	0.512486	0.990000	9.400000e-01	1.000000	1.000000	0.996472	0.990000	1	9.900000e-01	1
PPIP5K1	9677	broad.mit.edu	37	15	43851071	43851071	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:43851071G>C	ENST00000396923.3	-	28	3428	c.3307C>G	c.(3307-3309)Ctt>Gtt	p.L1103V	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1099V|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.L1103V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1079V			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1			1					CGTAGGGAAAGGGCATTATGC	0.478000																								0							SO:0001583	missense			ENST00000396923.3	1	1	hg19	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284077	0.80803	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.58060	0.56;0.36;2.25;0.36;0.56;0.56;0.52;2.25	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	M	0.76170	2.325	0.37898	D	0.930941	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.76410	-0.2969	10	0.59425	D	0.04	-13.5751	19.609	0.95594	0.0:0.0:1.0:0.0	.	1036;1103;1100;1078	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	V	1099;1078;1036;1078;1103;1103;1078;1103;1079;1036;999	ENSP00000371309:L1099V;ENSP00000353446:L1078V;ENSP00000353253:L1036V;ENSP00000334779:L1078V;ENSP00000380129:L1103V;ENSP00000400887:L1103V;ENSP00000371303:L1079V;ENSP00000308773:L1036V	ENSP00000304750:L1103V	L	-	1	0	PPIP5K1	41638363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.430000	0.97488	2.882000	0.98803	0.655000	0.94253	CTT		TCGA-3A-A9IH-01A-12D-A397-08	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	1	0	1	64	324	0	81	1	9.210175e-01	8	16	0	81	2		0	0	0	0	0	2	1	1.000000	64	321	0	81	2		0	0	0	0	0	2	-2.860975	1	1	0	0		1						0.510000	1.830000									0	0
ZNF280D	54816	broad.mit.edu	37	15	56958635	56958635	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:56958635T>C	ENST00000267807.7	-	16	2168	c.1952A>G	c.(1951-1953)tAc>tGc	p.Y651C	ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y638C|ZNF280D_ENST00000396245.1_Missense_Mutation_p.Y355C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y638C	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D			30					GCTAGTGTTGTATCTGCAAAA	0.358000																								0							SO:0001583	missense			ENST00000267807.7	1	1	hg19	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.205782	0.58234	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.16324	2.35;3.21	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);	0.660622	0.11753	U	0.532867	T	0.41511	0.1162	M	0.76574	2.34	0.39244	D	0.963911	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.27971	-1.0058	10	0.87932	D	0	-20.1193	9.5114	0.39078	0.1573:0.0:0.0:0.8427	.	714;651	B4DHL1;Q6N043	.;Z280D_HUMAN	C	651;638;355	ENSP00000267807:Y651C;ENSP00000379545:Y355C	ENSP00000267807:Y651C	Y	-	2	0	ZNF280D	54745927	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.396000	0.66297	1.983000	0.57843	0.383000	0.25322	TAC		TCGA-3A-A9IH-01A-12D-A397-08	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	1	0	1	64	323	0	51	1	7.967381e-01	4	13	0	51	2		0	0	0	0	0	2	1	1.000000	64	323	0	51	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.113356	0	0.510000	1.830000	0.512486	0.650000	5.100000e-01	0.830000	0.650000	0.660362	0.650000	0	5.700000e-01	7.300000e-01
HERC1	8925	broad.mit.edu	37	15	63908760	63908760	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:63908760C>A	ENST00000443617.2	-	75	13897	c.13810G>T	c.(13810-13812)Gtg>Ttg	p.V4604L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1			132					TGCTTCCACACCAGAGGGGCC	0.502000																								0							SO:0001583	missense			ENST00000443617.2	1	1	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104026	0.94245	.	.	ENSG00000103657	ENST00000443617	T	0.56776	0.44	5.04	5.04	0.67666	HECT (4);	0.000000	0.64402	D	0.000003	T	0.65228	0.2671	L	0.36672	1.1	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.66392	-0.5935	10	0.52906	T	0.07	.	18.7804	0.91930	0.0:1.0:0.0:0.0	.	4604	Q15751	HERC1_HUMAN	L	4604	ENSP00000390158:V4604L	ENSP00000390158:V4604L	V	-	1	0	HERC1	61695813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.491000	0.84063	0.555000	0.69702	GTG		TCGA-3A-A9IH-01A-12D-A397-08	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1	54	181	0	38	1	9.999894e-01	18	43	0	38	2		0	0	0	0	0	2	1	1.000000	53	180	0	38	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.113356	0	0.510000	1.830000	0.512486	0.900000	7.000000e-01	1.000000	1.000000	0.899006	0.900000	1	7.900000e-01	1
IDH2	3418	broad.mit.edu	37	15	90630770	90630770	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:90630770G>A	ENST00000330062.3	-	6	829	c.716C>T	c.(715-717)gCc>gTc	p.A239V	IDH2_ENST00000539790.1_Missense_Mutation_p.A109V|IDH2_ENST00000540499.2_Missense_Mutation_p.A187V|IDH2_ENST00000559482.1_Missense_Mutation_p.A130V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial			1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		CTTCTGGATGGCATACTGGAA	0.562000			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)			Dom	yes		15	15q26.1	3418	socitrate dehydrogenase 2 (NADP+), mitochondrial 		M	0							SO:0001583	missense			ENST00000330062.3	0	1	hg19	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556943	0.65425	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.89485	-2.52;-2.52;-2.52	5.74	5.74	0.90152	Isopropylmalate dehydrogenase-like domain (2);	0.101003	0.64402	D	0.000002	D	0.96738	0.8935	H	0.98005	4.125	0.49582	D	0.9998	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.943	D	0.97950	1.0331	10	0.87932	D	0	.	17.4143	0.87495	0.0:0.0:1.0:0.0	.	239;239	Q53GL5;P48735	.;IDHP_HUMAN	V	239;109;187	ENSP00000331897:A239V;ENSP00000438457:A109V;ENSP00000446147:A187V	ENSP00000331897:A239V	A	-	2	0	IDH2	88431774	1.000000	0.71417	0.978000	0.43139	0.002000	0.02628	7.797000	0.85911	2.721000	0.93114	0.491000	0.48974	GCC		TCGA-3A-A9IH-01A-12D-A397-08	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1	0	0	0	6	656	0	161	0	7.881844e-01	0	315	0	161	2		0	0	0	0	0	2	1	0.963920	6	649	0	161	2		0	0	0	0	0	2	-1.951001	0	1	0	0		1	1	2	3	2.113356	0	0.510000	1.830000	0.512486	0.030000	0	0.090000	0.040000	0.050606	0.030000	0	1.000000e-02	6.000000e-02
UMOD	7369	broad.mit.edu	37	16	20357449	20357449	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:20357449G>A	ENST00000570689.1	-	5	1327	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	UMOD_ENST00000396134.2_Splice_Site_p.T427M|UMOD_ENST00000396142.2_Splice_Site_p.T394M|UMOD_ENST00000396138.4_Splice_Site_p.T443M|UMOD_ENST00000424589.1_Splice_Site_p.T427M|UMOD_ENST00000302509.4_Splice_Site_p.T394M			P07911	UROM_HUMAN	uromodulin	p.T394M(1)		41					AGGACGTACCGTCAACACTGT	0.567000																								1	Substitution - Missense(1)						SO:0001630	splice_region_variant			ENST00000570689.1	1	0	hg19	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520286	0.27211	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.85	1.14	0.20703	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.386132	0.22253	N	0.062527	T	0.64461	0.2600	N	0.19112	0.55	0.26258	N	0.978613	B;B	0.30511	0.282;0.153	B;B	0.21546	0.035;0.028	T	0.55496	-0.8132	10	0.48119	T	0.1	-8.2654	4.7982	0.13282	0.2971:0.1786:0.5244:0.0	.	427;394	E9PEA4;P07911	.;UROM_HUMAN	M	394;427;427;394;372;394	ENSP00000379438:T427M;ENSP00000416346:T427M;ENSP00000306279:T394M;ENSP00000379446:T394M	ENSP00000306279:T394M	T	-	2	0	UMOD	20264950	0.970000	0.33590	1.000000	0.80357	0.841000	0.47740	-0.116000	0.10724	0.409000	0.25649	0.491000	0.48974	ACG		TCGA-3A-A9IH-01A-12D-A397-08	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1	1	0	1	27	133	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1.000000	27	128	0	42	2		0	0	0	0	0	2	-20.000000	1	1	121412	5	39	1	1	2	3	2.125779	0	0.510000	1.830000	0.514948	0.670000	4.600000e-01	1.000000	0.670000	0.689629	0.670000	0	5.600000e-01	8.100000e-01
ZNF423	23090	broad.mit.edu	37	16	49672109	49672109	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:49672109G>A	ENST00000561648.1	-	4	1007	c.954C>T	c.(952-954)caC>caT	p.H318H	ZNF423_ENST00000562871.1_Silent_p.H258H|ZNF423_ENST00000562520.1_Silent_p.H258H|ZNF423_ENST00000567169.1_Silent_p.H201H|ZNF423_ENST00000262383.2_Silent_p.H318H|ZNF423_ENST00000563137.2_Silent_p.H258H|ZNF423_ENST00000535559.1_Silent_p.H201H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423			89		all_cancers(37;0.0155)			TCTGGTTGGCGTGGGCTTGGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000561648.1	1	1	hg19	CCDS32445.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	0	0	1	77	205	1	71	1	8.772596e-01	3	9	1	71	2		0	0	0	0	0	2	1	1.000000	77	205	1	71	14		0	0	0	0	0	2	-20.000000	1	1	121412	5	36	1	1	2	3	2.125779	0	0.510000	1.830000	0.514948	0.990000	8.800000e-01	1.000000	1.000000	0.988403	0.990000	1	9.700000e-01	1
KCTD19	146212	broad.mit.edu	37	16	67333434	67333434	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67333434T>C	ENST00000304372.5	-	6	873	c.818A>G	c.(817-819)aAg>aGg	p.K273R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19			23		Ovarian(137;0.192)			GCGGGCCCCCTTCCCGGGGCT	0.642000																								0							SO:0001583	missense			ENST00000304372.5	0	1	hg19	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579355	0.46006	.	.	ENSG00000168676	ENST00000304372	T	0.58940	0.3	5.77	5.77	0.91146	.	0.173060	0.41396	D	0.000893	T	0.40670	0.1126	N	0.14661	0.345	0.30590	N	0.761602	B	0.21753	0.06	B	0.19946	0.027	T	0.41466	-0.9507	10	0.34782	T	0.22	-27.9066	12.7641	0.57383	0.0:0.0:0.0:1.0	.	273	Q17RG1	KCD19_HUMAN	R	273	ENSP00000305702:K273R	ENSP00000305702:K273R	K	-	2	0	KCTD19	65890935	0.994000	0.37717	0.982000	0.44146	0.313000	0.28021	3.595000	0.54016	2.326000	0.78906	0.533000	0.62120	AAG		TCGA-3A-A9IH-01A-12D-A397-08	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	0	0	0	5	589	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	0.936382	5	584	0	139	2		0	0	0	0	0	2	-3.119022	1	1	0	0		1	1	2	3	2.125779	0	0.510000	1.830000	0.514948	0.030000	0	1.000000	0.040000	0.066975	0.030000	0	1.000000e-02	6.000000e-02
LRRC36	55282	broad.mit.edu	37	16	67397524	67397524	+	Silent	SNP	C	C	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67397524C>G	ENST00000329956.6	+	6	628	c.609C>G	c.(607-609)ccC>ccG	p.P203P	LRRC36_ENST00000563189.1_Silent_p.P82P|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Silent_p.P82P|LRRC36_ENST00000290940.7_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36			24		Ovarian(137;0.192)			TTCCCTTCCCCAACCGGGAAA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000329956.6	1	1	hg19	CCDS32467.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	0	0	0	16	420	0	66	0	0	0	1	0	66	2		0	0	0	0	0	2	1	0.999932	16	417	0	66	2		0	0	0	0	0	2	-3.153975	1	1	0	0		1	1	2	3	2.125779	0	0.510000	1.830000	0.514948	0.140000	8.000000e-02	1.000000	0.140000	0.177797	0.140000	0	1.100000e-01	1.900000e-01
HYDIN	54768	broad.mit.edu	37	16	70902514	70902514	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:70902514C>T	ENST00000393567.2	-	66	11419	c.11269G>A	c.(11269-11271)Gta>Ata	p.V3757I	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein			43		Ovarian(137;0.0654)			TTTCTGGGTACGTCCACCCAC	0.527000																								0							SO:0001583	missense			ENST00000393567.2	1	1	hg19	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992987	0.54041	0.0	7.3E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	5.17	-7.53	0.01336	.	1.450790	0.06162	N	0.676024	T	0.00695	0.0023	L	0.45581	1.43	0.09310	N	1	D	0.57257	0.979	B	0.37047	0.24	T	0.46414	-0.9193	10	0.33940	T	0.23	.	1.2147	0.01912	0.2597:0.2713:0.0911:0.3779	.	3756	F8WD23	.	I	3757;3756	ENSP00000377197:V3757I	ENSP00000313052:V3756I	V	-	1	0	HYDIN	69460015	0.000000	0.05858	0.000000	0.03702	0.593000	0.36681	-2.004000	0.01461	-0.941000	0.03700	-0.294000	0.09567	GTA		TCGA-3A-A9IH-01A-12D-A397-08	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0	0	0	40	145	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1.000000	37	135	0	47	2		0	0	0	0	0	2	-3.056823	1	1	120824	45	46	1	1	2	3	2.125779	0	0.510000	1.830000	0.514948	0.850000	6.300000e-01	1.000000	1.000000	0.859896	0.850000	1	7.400000e-01	1
SLC38A8	146167	broad.mit.edu	37	16	84056458	84056458	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:84056458G>A	ENST00000299709.3	-	6	726	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8			26					CTCCGTTTGCGCATGCTGCAG	0.597000																								0							SO:0001583	missense			ENST00000299709.3	1	1	hg19	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	g	13.01	2.108896	0.37242	2.27E-4	1.16E-4	ENSG00000166558	ENST00000299709	T	0.02837	4.14	5.37	-3.06	0.05379	.	0.766355	0.13025	N	0.419743	T	0.05318	0.0141	L	0.59436	1.845	0.21105	N	0.999789	D	0.71674	0.998	P	0.53185	0.72	T	0.16897	-1.0387	10	0.54805	T	0.06	-11.8938	5.2133	0.15329	0.2249:0.0:0.3705:0.4045	.	243	A6NNN8	S38A8_HUMAN	C	243	ENSP00000299709:R243C	ENSP00000299709:R243C	R	-	1	0	SLC38A8	82613959	0.704000	0.27836	0.017000	0.16124	0.002000	0.02628	0.515000	0.22801	-0.448000	0.07128	-0.233000	0.12211	CGC		TCGA-3A-A9IH-01A-12D-A397-08	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	1	0	1	27	107	0	23	0	4.358094e-02	0	2	0	23	2		0	0	0	0	0	2	1	1.000000	27	107	0	23	2		0	0	0	0	0	2	-3.569890	1	1	121410	12	38	1	1	2	3	2.127413	0	0.510000	1.830000	0.514948	0.800000	5.500000e-01	1.000000	1.000000	0.809432	0.800000	0	6.700000e-01	9.600000e-01
MYH1	4619	broad.mit.edu	37	17	10398336	10398336	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:10398336G>A	ENST00000226207.5	-	37	5472	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult			176					GTCCTTCACCGTCTGTTCCAG	0.557000																								0							SO:0001583	missense			ENST00000226207.5	1	1	hg19	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126300	0.77549	.	.	ENSG00000109061	ENST00000226207	T	0.78126	-1.15	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.44483	U	0.000455	D	0.86280	0.5895	H	0.95745	3.715	0.58432	D	0.999997	B	0.29037	0.231	B	0.31869	0.137	D	0.87462	0.2408	10	0.72032	D	0.01	.	19.2282	0.93825	0.0:0.0:1.0:0.0	.	1793	P12882	MYH1_HUMAN	M	1793	ENSP00000226207:T1793M	ENSP00000226207:T1793M	T	-	2	0	MYH1	10339061	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	9.809000	0.99208	2.616000	0.88540	0.561000	0.74099	ACG		TCGA-3A-A9IH-01A-12D-A397-08	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	1	0	0	165	328	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	1.000000	162	325	0	149	2		0	0	0	0	0	2	-20.000000	1	1	121412	10	44	1	0	1	1	1.616215	1	0.510000	1.830000	0.342282	0.940000	8.400000e-01	1.000000	0.970000	0.943084	0.940000	1	8.900000e-01	9.900000e-01
GAS2L2	246176	broad.mit.edu	37	17	34074090	34074090	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:34074090G>A	ENST00000254466.6	-	5	1057	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R328C	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2			35		Ovarian(249;0.17)			CGTTCCCTGCGGGGTCTGGGG	0.627000																								0							SO:0001583	missense			ENST00000254466.6	1	1	hg19	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	8.982	0.975671	0.18736	0.0	1.16E-4	ENSG00000132139	ENST00000254466	T	0.20069	2.1	4.8	-4.68	0.03309	.	1.579220	0.03355	N	0.196716	T	0.20170	0.0485	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35226	-0.9797	10	0.45353	T	0.12	2.3467	11.3093	0.49353	0.6232:0.0:0.3768:0.0	.	344	Q8NHY3	GA2L2_HUMAN	C	344	ENSP00000254466:R344C	ENSP00000254466:R344C	R	-	1	0	GAS2L2	31098203	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-1.053000	0.03218	-0.258000	0.10820	CGC		TCGA-3A-A9IH-01A-12D-A397-08	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	1	0	0	105	233	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	1.000000	105	232	1	55	20		0	0	0	0	0	2	-8.695949	1	1	121330	3	34	1	0	0	0	2.076819	0	0.510000	1.830000	0.507488	0.990000	9.900000e-01	1.000000	1.000000	0.999608	0.990000	1	9.900000e-01	1
TADA2A	6871	broad.mit.edu	37	17	35830625	35830625	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:35830625G>A	ENST00000394395.2	+	13	1190	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Silent_p.R339R	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A			13					GGCTCCGCCGGCAAGCTGACA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000394395.2	0	1	hg19	CCDS11319.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	0	0	0	5	356	0	64	0	4.673532e-02	0	20	0	64	2		0	0	0	0	0	2	1	0.937503	5	355	0	62	2		0	0	0	0	0	2	-2.583425	1	1	0	0		1	0	0	0	2.076819	0	0.510000	1.830000	0.507488	0.050000	1.000000e-02	0.120000	0.060000	0.064297	0.050000	0	3.000000e-02	9.000000e-02
FBXO47	494188	broad.mit.edu	37	17	37099973	37099973	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:37099973C>T	ENST00000378079.2	-	8	1009	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47			20					CTATCATTTCCTGCCAAACCA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000378079.2	1	1	hg19	CCDS32639.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	1	0	1	89	343	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1.000000	89	342	0	85	2		0	0	0	0	0	2	-3.762688	1	1	0	0		1	0	0	0	2.076819	0	0.510000	1.830000	0.507488	0.790000	6.500000e-01	0.950000	0.810000	0.807056	0.790000	0	7.200000e-01	8.800000e-01
WFIKKN2	124857	broad.mit.edu	37	17	48917431	48917431	+	Missense_Mutation	SNP	G	G	A	rs146708003		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:48917431G>A	ENST00000311378.4	+	2	1310	c.782G>A	c.(781-783)cGt>cAt	p.R261H	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R168H|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		AACCATGTGCGTGGCAACGTG	0.617000																								0							SO:0001583	missense			ENST00000311378.4	0	1	hg19	CCDS11575.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.24	3.580087	0.65992	2.27E-4	0.0	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.69806	-0.43;-0.43	5.44	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.360711	0.29126	N	0.013070	T	0.63803	0.2542	N	0.21448	0.665	0.43930	D	0.996584	D	0.54772	0.968	P	0.55871	0.786	T	0.57522	-0.7797	10	0.15952	T	0.53	.	15.6499	0.77084	0.0:0.1374:0.8626:0.0	.	261	Q8TEU8	WFKN2_HUMAN	H	168;261	ENSP00000405889:R168H;ENSP00000311184:R261H	ENSP00000311184:R261H	R	+	2	0	WFIKKN2	46272430	0.157000	0.22836	0.977000	0.42913	0.991000	0.79684	1.787000	0.38704	2.533000	0.85409	0.651000	0.88453	CGT		TCGA-3A-A9IH-01A-12D-A397-08	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	0	0	0	4	251	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	0.886384	4	246	0	66	2		0	0	0	0	0	2	-5.189908	1	1	121412	2	35	1	0	0	0	2.062199	0	0.510000	1.830000	0.504950	0.060000	1.000000e-02	0.150000	0.060000	0.075182	0.060000	0	3.000000e-02	1.100000e-01
PRKCA	5578	broad.mit.edu	37	17	64770147	64770147	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:64770147G>A	ENST00000413366.3	+	14	1593	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha			38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)	Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GGACTGGTGGGCCTATGGCGT	0.418000																								0							SO:0001583	missense			ENST00000413366.3	1	0	hg19	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	36	5.975659	0.97162	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.31769	1.48	5.61	5.61	0.85477	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	U	0.000000	T	0.56731	0.2005	M	0.71296	2.17	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.70487	0.969;0.969	T	0.58624	-0.7604	10	0.87932	D	0	.	18.4403	0.90664	0.0:0.0:1.0:0.0	.	523;434	P17252;Q59FI5	KPCA_HUMAN;.	T	523;430	ENSP00000408695:A523T	ENSP00000284384:A430T	A	+	1	0	PRKCA	62200609	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.932000	0.75869	2.643000	0.89663	0.643000	0.83706	GCC		TCGA-3A-A9IH-01A-12D-A397-08	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1	1	0	1	89	385	0	75	0	9.996456e-01	0	53	0	75	2		0	0	0	0	0	2	1	1.000000	89	380	0	74	2		0	0	0	0	0	2	-2.693634	1	1	0	0		1	0	0	0	2.045659	0	0.510000	1.830000	0.494533	0.700000	5.800000e-01	0.850000	0.710000	0.717233	0.700000	0	6.400000e-01	7.800000e-01
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:7578502A>T	ENST00000269305.4	-	5	617	c.428T>A	c.(427-429)gTg>gAg	p.V143E	TP53_ENST00000445888.2_Missense_Mutation_p.V143E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V143E|TP53_ENST00000420246.2_Missense_Mutation_p.V143E|TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000413465.2_Missense_Mutation_p.V143E	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.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CCACAGCTGCACAGGGCAGGT	0.587000		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	42	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(2)						SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333767	0.41297	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.48	1.94	0.25998	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.343688	0.28219	N	0.016151	D	0.99697	0.9885	M	0.87381	2.88	0.48975	D	0.99973	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.996;0.993;0.996;0.999;0.999;0.996	D	0.99035	1.0822	10	0.87932	D	0	-32.0412	3.2523	0.06819	0.6411:0.1439:0.0771:0.1378	.	104;143;143;50;143;143;143	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	143;143;143;143;143;143;132;50;11;50;11;143	ENSP00000410739:V143E;ENSP00000352610:V143E;ENSP00000269305:V143E;ENSP00000398846:V143E;ENSP00000391127:V143E;ENSP00000391478:V143E;ENSP00000425104:V11E;ENSP00000423862:V50E;ENSP00000424104:V143E	ENSP00000269305:V143E	V	-	2	0	TP53	7519227	1.000000	0.71417	0.664000	0.29753	0.012000	0.07955	9.264000	0.95635	0.097000	0.17492	-0.336000	0.08194	GTG		TCGA-3A-A9IH-01A-12D-A397-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	70	149	0	58	1	9.999991e-01	28	21	0	58	2	1	1	372	784	0	1365	2	1	1.000000	67	147	0	56	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.616215	1	0.510000	1.830000	0.342282	0.890000	7.400000e-01	1.000000	0.930000	0.896766	0.890000	1	8.200000e-01	9.700000e-01
MIB1	57534	broad.mit.edu	37	18	19429284	19429284	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:19429284T>C	ENST00000261537.6	+	17	2785	c.2521T>C	c.(2521-2523)Tct>Cct	p.S841P	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1			27			STAD - Stomach adenocarcinoma(5;0.212)		TGCTACCTGTTCTTTATGTTC	0.343000																								0							SO:0001583	missense			ENST00000261537.6	1	1	hg19	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.554016	0.65425	.	.	ENSG00000101752	ENST00000261537	T	0.79554	-1.28	5.33	5.33	0.75918	Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.88422	0.6432	M	0.77103	2.36	0.80722	D	1	P	0.49961	0.93	P	0.62184	0.899	D	0.88191	0.2877	10	0.40728	T	0.16	-11.9712	15.3214	0.74124	0.0:0.0:0.0:1.0	.	841	Q86YT6	MIB1_HUMAN	P	841	ENSP00000261537:S841P	ENSP00000261537:S841P	S	+	1	0	MIB1	17683282	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.019000	0.59389	0.477000	0.44152	TCT		TCGA-3A-A9IH-01A-12D-A397-08	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	1	0	1	68	388	0	102	1	4.555024e-01	3	7	0	102	2		0	0	0	0	0	2	1	1.000000	67	387	0	102	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	1.748838	1	0.510000	1.830000	0.414436	0.480000	3.800000e-01	0.600000	0.490000	0.492857	0.480000	0	4.300000e-01	5.500000e-01
SMAD4	4089	broad.mit.edu	37	18	48575093	48575093	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:48575093C>A	ENST00000342988.3	+	3	825	c.287C>A	c.(286-288)gCc>gAc	p.A96D	SMAD4_ENST00000452201.2_Missense_Mutation_p.A96D|SMAD4_ENST00000588745.1_Missense_Mutation_p.A96D|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.A96D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(4)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			GTGATCTATGCCCGTCTCTGG	0.368000																								40	Whole gene deletion(36)|Unknown(4)						SO:0001583	missense			ENST00000342988.3	1	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107210	0.94292	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.78246	-1.16;-1.16;-1.16	5.32	5.32	0.75619	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.86973	0.6062	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	D	0.88383	0.3003	10	0.87932	D	0	.	17.7655	0.88476	0.0:1.0:0.0:0.0	.	96	Q13485	SMAD4_HUMAN	D	96	ENSP00000409551:A96D;ENSP00000341551:A96D;ENSP00000381452:A96D	ENSP00000341551:A96D	A	+	2	0	SMAD4	46829091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.064000	0.71169	2.463000	0.83235	0.585000	0.79938	GCC		TCGA-3A-A9IH-01A-12D-A397-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	35	154	0	57	1	9.714005e-01	8	20	0	57	2	1	1	57	193	0	286	2	1	1.000000	35	151	0	57	2		0	0	0	0	0	2	-19.884910	1	1	0	0		1	0	1	1	1.509155	1	0.510000	1.830000	0.344525	0.530000	3.900000e-01	0.700000	0.540000	0.547014	0.530000	0	4.600000e-01	6.300000e-01
DCC	1630	broad.mit.edu	37	18	50450207	50450207	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:50450207C>T	ENST00000442544.2	+	4	1444	c.828C>T	c.(826-828)ggC>ggT	p.G276G	DCC_ENST00000412726.1_Silent_p.G124G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor			148		all_cancers(7;0.11)|all_epithelial(6;0.00126)			GGTTACGAGGCGAGGAAGTCA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000442544.2	1	1	hg19	CCDS11952.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	1	0	1	85	232	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1.000000	85	231	0	55	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.509155	1	0.510000	1.830000	0.344525	0.770000	6.400000e-01	0.920000	0.780000	0.785232	0.770000	0	7.000000e-01	8.500000e-01
ZNF569	148266	broad.mit.edu	37	19	37905084	37905084	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:37905084A>T	ENST00000316950.6	-	6	1033	c.476T>A	c.(475-477)cTt>cAt	p.L159H	ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.L159H	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569			40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		CTTTCTCATAAGGCATTTCAC	0.333000																								0							SO:0001583	missense			ENST00000316950.6	1	1	hg19	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.332860	0.01298	.	.	ENSG00000196437	ENST00000316950	T	0.07688	3.17	3.37	1.09	0.20402	.	1.309050	0.05886	N	0.627427	T	0.04588	0.0125	N	0.24115	0.695	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.02654	T	1	.	2.6069	0.04880	0.4596:0.0:0.1298:0.4106	.	159	Q5MCW4	ZN569_HUMAN	H	159	ENSP00000325018:L159H	ENSP00000325018:L159H	L	-	2	0	ZNF569	42596924	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	0.045000	0.14013	0.060000	0.16281	0.482000	0.46254	CTT		TCGA-3A-A9IH-01A-12D-A397-08	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	1	0	1	42	240	0	46	0	6.277014e-02	0	3	0	46	2		0	0	0	0	0	2	1	1.000000	42	240	0	46	2		0	0	0	0	0	2	-19.857770	1	1	0	0		1	0	0	0	1.993156	0	0.510000	1.830000	0.486427	0.550000	4.100000e-01	0.720000	0.560000	0.564391	0.550000	0	4.700000e-01	6.400000e-01
ZNF175	7728	broad.mit.edu	37	19	52091537	52091537	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:52091537G>A	ENST00000262259.2	+	5	2311	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175			24		all_neural(266;0.0299)			GTGGGAAATCGTTCAGTAAGA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000262259.2	1	1	hg19	CCDS12837.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	1	0	1	71	259	0	49	1	6.690577e-01	2	8	0	49	2		0	0	0	0	0	2	1	1.000000	70	257	0	49	2		0	0	0	0	0	2	-20.000000	1	1	121412	4	40	1	0	0	0	2.074281	0	0.510000	1.830000	0.507488	0.830000	6.700000e-01	1.000000	1.000000	0.841983	0.830000	0	7.500000e-01	9.300000e-01
PEG3	5178	broad.mit.edu	37	19	57328017	57328017	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:57328017C>T	ENST00000326441.9	-	10	2156	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	p.R598H(2)		170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			ttcacgttcacgttcatgttc	0.458000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000326441.9	0	1	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775804	0.02951	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02863	4.13;4.13	1.08	-0.0769	0.13721	.	.	.	.	.	T	0.02193	0.0068	L	0.50333	1.59	.	.	.	B;B;P	0.40107	0.055;0.291;0.703	B;B;B	0.23150	0.001;0.013;0.044	T	0.41251	-0.9519	8	0.56958	D	0.05	.	3.4582	0.07523	0.0:0.7126:0.0:0.2874	.	474;598;533	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	598	ENSP00000326581:R598H;ENSP00000403051:R598H	ENSP00000326581:R598H	R	-	2	0	ZIM2	62019829	0.000000	0.05858	0.010000	0.14722	0.165000	0.22458	-0.044000	0.12023	0.063000	0.16370	0.525000	0.51046	CGT		TCGA-3A-A9IH-01A-12D-A397-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	0	0	0	5	211	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	0.935956	5	208	0	39	2		0	0	0	0	0	2	-3.214203	1	1	0	0		1	0	0	0	2.056173	0	0.510000	1.830000	0.504950	0.090000	3.000000e-02	0.200000	0.090000	0.106352	0.090000	0	5.000000e-02	1.500000e-01
CTSS	1520	broad.mit.edu	37	1	150722622	150722622	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:150722622T>G	ENST00000368985.3	-	6	913	c.653A>C	c.(652-654)aAa>aCa	p.K218T	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.K168T	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S			15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		AGCACGATATTTTGAGTCATA	0.393000																								0							SO:0001583	missense			ENST00000368985.3	1	1	hg19	CCDS968.1	.	.	.	.	.	.	.	.	.	.	T	5.005	0.186606	0.09547	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.97598	-4.45;1.98	5.45	3.18	0.36537	Peptidase C1A, papain C-terminal (2);	0.409268	0.29668	N	0.011514	T	0.78534	0.4298	N	0.02213	-0.635	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.005;0.01	T	0.73107	-0.4087	10	0.20046	T	0.44	.	6.2497	0.20839	0.0:0.0981:0.3428:0.5592	.	168;218	B4DWC9;P25774	.;CATS_HUMAN	T	168;218	ENSP00000408414:K168T;ENSP00000357981:K218T	ENSP00000357981:K218T	K	-	2	0	CTSS	148989246	0.000000	0.05858	0.088000	0.20740	0.438000	0.31896	0.260000	0.18424	0.910000	0.36722	0.383000	0.25322	AAA		TCGA-3A-A9IH-01A-12D-A397-08	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	1	0	1	82	257	0	56	1	1	291	360	0	56	2		0	0	0	0	0	2	1	1.000000	82	254	0	54	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.139769	0	0.510000	1.830000	0.517384	0.960000	7.800000e-01	1.000000	1.000000	0.946323	0.960000	1	8.700000e-01	1
ASH1L	55870	broad.mit.edu	37	1	155449582	155449582	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:155449582C>T	ENST00000368346.3	-	3	3718	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T	ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)			124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		CCAAATGTGGCAGCAAGACTT	0.368000																								0							SO:0001583	missense			ENST00000368346.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.95	3.732582	0.69189	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91464	-2.85;-2.85	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.88760	0.6524	N	0.11560	0.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.89864	0.4018	10	0.41790	T	0.15	.	18.7909	0.91974	0.0:1.0:0.0:0.0	.	1027;1027	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	T	1027	ENSP00000357330:A1027T;ENSP00000376204:A1027T	ENSP00000357330:A1027T	A	-	1	0	ASH1L	153716206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.773000	0.95371	0.655000	0.94253	GCC		TCGA-3A-A9IH-01A-12D-A397-08	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	1	0	1	104	298	0	54	0	5.777290e-01	1	6	0	54	2		0	0	0	0	0	2	1	1.000000	102	294	0	54	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.145639	0	0.510000	1.830000	0.517384	0.990000	8.600000e-01	1.000000	1.000000	0.980335	0.990000	1	9.400000e-01	1
OR2G2	81470	broad.mit.edu	37	1	247751947	247751947	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:247751947G>A	ENST00000320065.1	+	1	286	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2			45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)		GAAAACTATCGCCTATGGTGG	0.527000																								0							SO:0001583	missense			ENST00000320065.1	1	1	hg19	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	A	3.757	-0.050345	0.07407	0.0	1.16E-4	ENSG00000177489	ENST00000320065	T	0.01084	5.36	4.29	-1.92	0.07618	GPCR, rhodopsin-like superfamily (1);	0.226724	0.21845	N	0.068280	T	0.00384	0.0012	N	0.00303	-1.675	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45760	-0.9239	10	0.33141	T	0.24	.	6.2696	0.20947	0.29:0.0:0.086:0.624	.	96	Q8NGZ5	OR2G2_HUMAN	T	96	ENSP00000326349:A96T	ENSP00000326349:A96T	A	+	1	0	OR2G2	245818570	0.000000	0.05858	0.761000	0.31378	0.087000	0.18053	0.484000	0.22308	-0.476000	0.06842	-0.333000	0.08304	GCC		TCGA-3A-A9IH-01A-12D-A397-08	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1	1	0	1	81	424	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1.000000	81	419	0	50	2		0	0	0	0	0	2	-20.000000	1	1	121412	2	41	1	1	2	3	2.131603	0	0.510000	1.830000	0.514948	0.630000	5.100000e-01	1.000000	0.630000	0.649909	0.630000	0	5.700000e-01	7.100000e-01
EPB41	2035	broad.mit.edu	37	1	29314224	29314224	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:29314224C>A	ENST00000343067.4	+	2	402	c.275C>A	c.(274-276)tCt>tAt	p.S92Y	EPB41_ENST00000398863.2_Missense_Mutation_p.S92Y|EPB41_ENST00000373797.1_Missense_Mutation_p.S92Y|EPB41_ENST00000349460.4_5'UTR|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000356093.2_Missense_Mutation_p.S92Y|EPB41_ENST00000347529.3_Missense_Mutation_p.S92Y|EPB41_ENST00000373798.1_Missense_Mutation_p.S92Y|EPB41_ENST00000373800.3_5'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1			14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)			AGGCCCAAATCTCAGGTGTCC	0.443000																								0							SO:0001583	missense			ENST00000343067.4	1	1	hg19	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817592	0.70912	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.89270	-2.39;-2.35;-2.23;-2.49;-2.39;-2.4	5.6	4.69	0.59074	.	0.246899	0.35646	N	0.003068	D	0.91181	0.7222	L	0.32530	0.975	0.41562	D	0.988632	D;D;D;D;D	0.89917	0.999;0.997;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.983;0.998;0.999;0.998	D	0.92387	0.5918	10	0.72032	D	0.01	.	15.2268	0.73357	0.1417:0.8583:0.0:0.0	.	92;92;92;92;92	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	Y	109;92;92;92;92;92;92;92;92	ENSP00000345259:S92Y;ENSP00000348397:S92Y;ENSP00000381839:S92Y;ENSP00000290100:S92Y;ENSP00000362904:S92Y;ENSP00000362903:S92Y	ENSP00000345259:S92Y	S	+	2	0	EPB41	29186811	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.161000	0.50747	1.375000	0.46248	-0.133000	0.14855	TCT		TCGA-3A-A9IH-01A-12D-A397-08	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	1	0	1	134	383	0	79	1	9.789110e-01	9	11	0	79	2		0	0	0	0	0	2	1	1.000000	131	377	0	76	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.131992	0	0.510000	1.830000	0.514948	0.990000	8.700000e-01	1.000000	1.000000	0.982372	0.990000	1	9.400000e-01	1
PAX1	5075	broad.mit.edu	37	20	21687488	21687488	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:21687488G>A	ENST00000398485.2	+	2	753	c.699G>A	c.(697-699)ccG>ccA	p.P233P	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.P209P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1			38					AGCCCGGACCGTACGAGGCAA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000398485.2	0	1	hg19	CCDS13146.2																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3	0	0	0	5	288	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	0.937504	5	287	0	72	2		0	0	0	0	0	2	-3.089679	1	1	0	0		1	0	2	2	2.139153	1	0.510000	1.830000	0.510000	0.070000	2.000000e-02	1.000000	0.060000	0.229816	0.070000	0	4.000000e-02	1
BCAS1	8537	broad.mit.edu	37	20	52570062	52570062	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:52570062G>A	ENST00000395961.3	-	11	1755	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	BCAS1_ENST00000371435.2_Missense_Mutation_p.T452M|BCAS1_ENST00000434986.2_Missense_Mutation_p.T196M|BCAS1_ENST00000371440.3_Missense_Mutation_p.T539M	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1			37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		CGTGTCCACCGTGGCCTGCTC	0.562000																								0							SO:0001583	missense			ENST00000395961.3	0	1	hg19	CCDS13444.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.005244755244755245|0.005244755244755245	0|0	0.0|0.0	G|G	13.51|13.51	2.259581|2.259581	0.39995|0.39995	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000422805|ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	.|T;T;T;T;T	.|0.32515	.|2.15;2.41;2.45;2.41;1.45	5.17|5.17	-10.3|-10.3	0.00346|0.00346	.|.	.|1.843200	.|0.02444	.|N	.|0.084842	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;D;D	.|0.64830	.|0.067;0.209;0.067;0.239;0.994;0.994	.|B;B;B;B;P;P	.|0.51833	.|0.016;0.055;0.016;0.057;0.681;0.681	T|T	0.50448|0.50448	-0.8827|-0.8827	5|10	.|0.44086	.|T	.|0.13	2.3235|2.3235	4.623|4.623	0.12465|0.12465	0.5131:0.2359:0.1717:0.0793|0.5131:0.2359:0.1717:0.0793	.|.	.|530;196;539;452;530;530	.|B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	W|M	193|401;539;330;530;452;196	.|ENSP00000396361:T401M;ENSP00000360495:T539M;ENSP00000379290:T530M;ENSP00000360490:T452M;ENSP00000409956:T196M	.|ENSP00000360490:T452M	R|T	-|-	1|2	2|0	BCAS1|BCAS1	52003469|52003469	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.697000|-1.697000	0.01910|0.01910	-2.036000|-2.036000	0.00922|0.00922	-0.228000|-0.228000	0.12330|0.12330	CGG|ACG		TCGA-3A-A9IH-01A-12D-A397-08	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	0	0	0	5	377	0	48	0	9.116354e-01	0	332	0	48	2		0	0	0	0	0	2	1	0.937069	5	375	0	47	2		0	0	0	0	0	2	-2.780121	1	1	121410	51	50	1	1	2	3	2.097570	0	0.510000	1.830000	0.511246	0.050000	1.000000e-02	0.120000	0.060000	0.061241	0.050000	0	3.000000e-02	9.000000e-02
CABIN1	23523	broad.mit.edu	37	22	24447387	24447387	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:24447387C>T	ENST00000398319.2	+	8	1142	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	CABIN1_ENST00000263119.5_Missense_Mutation_p.R253W|CABIN1_ENST00000405822.2_Intron	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1			65					GCTGATTGTGCGGGAGAAGGA	0.552000																								0							SO:0001583	missense			ENST00000398319.2	0	1	hg19	CCDS13823.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.86	3.492173	0.64074	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T	0.62364	0.38;0.03;0.38;0.03	5.32	3.11	0.35812	.	0.176588	0.51477	D	0.000099	T	0.65396	0.2687	L	0.50333	1.59	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.987	P;P;B	0.51945	0.685;0.606;0.394	T	0.68526	-0.5385	10	0.72032	D	0.01	.	13.6165	0.62110	0.2825:0.7175:0.0:0.0	.	208;253;253	C9J068;F5H5W5;Q9Y6J0	.;.;CABIN_HUMAN	W	208;253;208;253;253	ENSP00000394209:R208W;ENSP00000263119:R253W;ENSP00000412389:R208W;ENSP00000381364:R253W	ENSP00000263119:R253W	R	+	1	2	CABIN1	22777387	1.000000	0.71417	0.517000	0.27799	0.631000	0.37964	2.925000	0.48884	0.672000	0.31204	0.551000	0.68910	CGG		TCGA-3A-A9IH-01A-12D-A397-08	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	0	0	0	5	289	0	61	0	1.774236e-01	0	37	0	61	2		0	0	0	0	0	2	1	0.936940	5	287	0	61	2		0	0	0	0	0	2	-2.616011	1	1	121412	23	44	1	0	1	1	2.005203	1	0.510000	1.830000	0.344525	0.050000	1.000000e-02	0.110000	0.050000	0.059045	0.050000	0	3.000000e-02	8.000000e-02
MYO18B	84700	broad.mit.edu	37	22	26173732	26173732	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173732G>A	ENST00000407587.2	+	8	2221	c.2052G>A	c.(2050-2052)gtG>gtA	p.V684V	MYO18B_ENST00000335473.7_Silent_p.V684V|MYO18B_ENST00000536101.1_Silent_p.V684V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB			146					CAGGCAGTGTGGATGGCAGGG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000407587.2	1	1	hg19																																																																																					TCGA-3A-A9IH-01A-12D-A397-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1	57	345	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1.000000	55	338	0	111	2		0	0	0	0	0	2	-3.143323	1	1	0	0		1						0.510000	1.830000									0	0
MYO18B	84700	broad.mit.edu	37	22	26173733	26173733	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173733G>C	ENST00000407587.2	+	8	2222	c.2053G>C	c.(2053-2055)Gat>Cat	p.D685H	MYO18B_ENST00000335473.7_Missense_Mutation_p.D685H|MYO18B_ENST00000536101.1_Missense_Mutation_p.D685H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB			146					AGGCAGTGTGGATGGCAGGGT	0.587000																								0							SO:0001583	missense			ENST00000407587.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.04	2.117718	0.37339	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87491	-2.26;-2.26;-2.26	5.41	4.39	0.52855	Myosin head, motor domain (2);	0.199793	0.41938	D	0.000795	D	0.91355	0.7273	L	0.58101	1.795	0.40199	D	0.977491	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.75484	0.962;0.986;0.976;0.976	D	0.91923	0.5549	10	0.59425	D	0.04	.	13.2306	0.59941	0.0762:0.0:0.9238:0.0	.	198;685;685;685	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	H	685	ENSP00000441229:D685H;ENSP00000334563:D685H;ENSP00000386096:D685H	ENSP00000334563:D685H	D	+	1	0	MYO18B	24503733	1.000000	0.71417	0.993000	0.49108	0.145000	0.21501	3.357000	0.52277	1.282000	0.44496	0.655000	0.94253	GAT		TCGA-3A-A9IH-01A-12D-A397-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1	57	339	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1.000000	55	332	0	112	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1						0.510000	1.830000									0	0
STAT1	6772	broad.mit.edu	37	2	191859900	191859900	+	Silent	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:191859900A>T	ENST00000361099.3	-	10	1218	c.831T>A	c.(829-831)ctT>ctA	p.L277L	STAT1_ENST00000392322.3_Silent_p.L277L|STAT1_ENST00000409465.1_Silent_p.L277L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.L279L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa			39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		CCAACTTTTTAAGCTGCTGCC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000361099.3	0	1	hg19	CCDS2309.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	0	0	0	5	344	0	53	0	9.142193e-01	0	307	0	53	2		0	0	0	0	0	2	0	0.934595	0	342	0	53	2		0	0	0	0	0	2	-5.865498	1	0	0	0		1	0	0	0	2.030307	0	0.510000	1.830000	0.494533	0.050000	1.000000e-02	0.120000	0.060000	0.064798	0.050000	0	3.000000e-02	9.000000e-02
BIRC6	57448	broad.mit.edu	37	2	32582309	32582309	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:32582309G>A	ENST00000421745.2	+	1	214	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6			172	Acute lymphoblastic leukemia(172;0.155)				AGCGCAGGCCGGAAGATGGCG	0.746000													Pancreas(94;175 1509 16028 18060 45422)											0							SO:0001583	missense			ENST00000421745.2	0	1	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653258	0.88056	.	.	ENSG00000115760	ENST00000421745	T	0.74947	-0.89	3.94	3.94	0.45596	.	.	.	.	.	T	0.58623	0.2135	N	0.08118	0	0.30688	N	0.75164	D	0.63880	0.993	B	0.44108	0.441	T	0.63839	-0.6546	9	0.62326	D	0.03	.	13.3635	0.60669	0.0:0.0:1.0:0.0	.	27	Q9NR09	BIRC6_HUMAN	Q	27	ENSP00000393596:R27Q	ENSP00000393596:R27Q	R	+	2	0	BIRC6	32435813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.268000	0.51585	2.198000	0.70561	0.563000	0.77884	CGG		TCGA-3A-A9IH-01A-12D-A397-08	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	1	0	0	11	18	0	8	0	0	0	1	0	8	2		0	0	0	0	0	2	1	0.999351	11	18	0	8	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.047096	0	0.510000	1.830000	0.499796	0.990000	8.300000e-01	1.000000	1.000000	0.989252	0.990000	1	9.900000e-01	1
RETSAT	54884	broad.mit.edu	37	2	85571747	85571747	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:85571747T>C	ENST00000295802.4	-	7	1338	c.1226A>G	c.(1225-1227)tAt>tGt	p.Y409C	RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.Y348C|RETSAT_ENST00000263854.6_Missense_Mutation_p.Y409C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)			30				Vitamin A(DB00162)	ATAGTAAACATAGTAGTTGGT	0.567000																								0							SO:0001583	missense			ENST00000295802.4	1	1	hg19	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.11|16.11	3.031158|3.031158	0.54790|0.54790	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000263854;ENST00000457495	.|T;T	.|0.23754	.|1.92;1.89	4.62|4.62	0.301|0.301	0.15781|0.15781	.|.	.|0.505894	.|0.23504	.|N	.|0.047471	T|T	0.35189|0.35189	0.0923|0.0923	L|L	0.60455|0.60455	1.87|1.87	0.31918|0.31918	N|N	0.613849|0.613849	.|D;D;D	.|0.62365	.|0.991;0.967;0.985	.|P;P;P	.|0.57324	.|0.818;0.818;0.571	T|T	0.43393|0.43393	-0.9394|-0.9394	5|10	.|0.52906	.|T	.|0.07	-5.281|-5.281	8.9397|8.9397	0.35722|0.35722	0.5511:0.0:0.0:0.4489|0.5511:0.0:0.0:0.4489	.|.	.|348;348;409	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	V|C	198|409;409;348	.|ENSP00000295802:Y409C;ENSP00000405040:Y348C	.|ENSP00000263854:Y409C	M|Y	-|-	1|2	0|0	RETSAT|RETSAT	85425258|85425258	0.005000|0.005000	0.15991|0.15991	0.987000|0.987000	0.45799|0.45799	0.861000|0.861000	0.49209|0.49209	0.074000|0.074000	0.14662|0.14662	0.197000|0.197000	0.20387|0.20387	0.459000|0.459000	0.35465|0.35465	ATG|TAT		TCGA-3A-A9IH-01A-12D-A397-08	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	1	0	1	57	214	0	74	1	1	116	182	0	74	2		0	0	0	0	0	2	1	1.000000	57	211	0	72	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.047096	0	0.510000	1.830000	0.499796	0.800000	6.200000e-01	0.990000	0.810000	0.811984	0.800000	0	7.100000e-01	9.000000e-01
INPP4A	3631	broad.mit.edu	37	2	99163121	99163121	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:99163121G>A	ENST00000523221.1	+	11	1127	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Missense_Mutation_p.R376H|INPP4A_ENST00000074304.5_Missense_Mutation_p.R376H			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa			43					GGAGGTCTCCGCAAAAAGCTG	0.458000																								0							SO:0001583	missense			ENST00000523221.1	0	1	hg19	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	35	5.523740	0.96431	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.61387	1.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	T	0.43637	-0.9379	10	0.12430	T	0.62	-21.0946	18.117	0.89559	0.0:0.0:1.0:0.0	.	376;376;376;376	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	H	376	ENSP00000386704:R376H;ENSP00000386777:R376H;ENSP00000074304:R376H;ENSP00000442149:R376H;ENSP00000387294:R376H;ENSP00000427722:R376H	ENSP00000074304:R376H	R	+	2	0	INPP4A	98529553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.592000	0.98245	2.757000	0.94681	0.655000	0.94253	CGC		TCGA-3A-A9IH-01A-12D-A397-08	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	0	0	0	4	186	0	36	0	6.273457e-02	0	15	0	36	2		0	0	0	0	0	2	1	0.888755	4	184	0	35	2		0	0	0	0	0	2	-2.712395	1	1	120826	1	27	1	0	0	0	2.030307	0	0.510000	1.830000	0.494533	0.080000	2.000000e-02	0.190000	0.080000	0.098463	0.080000	0	5.000000e-02	1.400000e-01
GHRL	51738	broad.mit.edu	37	3	10331548	10331548	+	Silent	SNP	C	C	T	rs146899970	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:10331548C>T	ENST00000335542.8	-	4	993	c.123G>A	c.(121-123)tcG>tcA	p.S41S	GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000449238.2_Silent_p.S28S|GHRL_ENST00000422159.1_Silent_p.S41S|GHRL_ENST00000450603.1_Silent_p.S41S|GHRL_ENST00000437422.2_Silent_p.S29S|GHRL_ENST00000446937.2_Intron|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000457360.1_Silent_p.S41S|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000430179.1_Silent_p.S40S|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000429122.1_Silent_p.S41S|GHRL_ENST00000287656.7_Silent_p.S40S|GHRL_ENST00000449554.2_Silent_p.S40S			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide			5					GTGGCTTCTTCGACTCCTTTC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000335542.8	1	1	hg19	CCDS33700.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	1	0	1	126	549	0	141	0	9.973731e-01	0	41	0	141	2		0	0	0	0	0	2	1	1.000000	126	542	1	138	17		0	0	0	0	0	2	-3.535820	1	1	121412	58	53	1	0	0	0	2.049854	0	0.510000	1.830000	0.499796	0.710000	6.000000e-01	0.830000	0.710000	0.719581	0.710000	0	6.500000e-01	7.800000e-01
EIF2B5	8893	broad.mit.edu	37	3	183860631	183860631	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:183860631G>A	ENST00000273783.3	+	11	1733	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	EIF2B5_ENST00000444495.1_Silent_p.E537E	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa			27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		ATTCTGAGGAGCCGGACAGCC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000273783.3	1	1	hg19	CCDS3252.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1	1	0	1	16	72	0	22	1	9.999949e-01	27	83	0	22	2		0	0	0	0	0	2	1	0.999962	16	72	0	22	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.049854	0	0.510000	1.830000	0.499796	0.700000	4.300000e-01	1.000000	1.000000	0.714134	0.700000	0	5.500000e-01	8.700000e-01
SPOCK3	50859	broad.mit.edu	37	4	167713399	167713399	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:167713399G>A	ENST00000357154.3	-	8	777	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	SPOCK3_ENST00000511269.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R118W|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R94W|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R163W|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R211W|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R211W	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3			38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)			AACCAGTCCCGCAATCTGTTT	0.393000																								0							SO:0001583	missense			ENST00000357154.3	1	1	hg19	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668665	0.67814	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403	T;T;T;T;T;T;T;T;T;T;T;T;T;D	0.88586	1.42;1.43;1.43;1.42;1.42;1.42;1.35;0.83;1.43;1.23;0.83;1.12;2.14;-2.4	5.33	3.57	0.40892	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.124274	0.51477	N	0.000082	D	0.93501	0.7926	M	0.82193	2.58	0.50313	D	0.999869	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.991;0.996;0.995;0.998;0.996;0.997;0.998	D	0.92483	0.5994	10	0.72032	D	0.01	-2.4622	8.3992	0.32574	0.0729:0.0:0.5389:0.3881	.	116;118;163;223;214;211;214	B4DGK5;F5H099;B4DHB4;B4DFW5;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	W	214;211;211;214;214;214;94;116;211;163;116;118;211;93	ENSP00000349677:R214W;ENSP00000350153:R211W;ENSP00000425570:R211W;ENSP00000420920:R214W;ENSP00000423421:R214W;ENSP00000423606:R214W;ENSP00000444789:R94W;ENSP00000426318:R116W;ENSP00000425502:R211W;ENSP00000411344:R163W;ENSP00000445430:R116W;ENSP00000438142:R118W;ENSP00000426177:R211W;ENSP00000423176:R93W	ENSP00000349677:R214W	R	-	1	2	SPOCK3	167949974	0.995000	0.38212	0.833000	0.33012	0.952000	0.60782	1.388000	0.34442	0.714000	0.32081	0.563000	0.77884	CGG		TCGA-3A-A9IH-01A-12D-A397-08	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1	1	0	1	74	239	0	46	0	2.425404e-01	0	4	0	46	2		0	0	0	0	0	2	1	1.000000	73	238	0	46	2		0	0	0	0	0	2	-4.429371	1	1	121412	1	27	1	1	2	3	2.122969	0	0.510000	1.830000	0.512486	0.920000	7.500000e-01	1.000000	1.000000	0.922021	0.920000	1	8.300000e-01	1
HMGB2	3148	broad.mit.edu	37	4	174253329	174253329	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:174253329G>A	ENST00000296503.5	-	5	1405	c.532C>T	c.(532-534)Cca>Tca	p.P178S	RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_Missense_Mutation_p.P178S|HMGB2_ENST00000438704.2_Missense_Mutation_p.P178S			P26583	HMGB2_HUMAN	high mobility group box 2			14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)			GAGCCTGTTGGCCTGCCAGGG	0.433000																								0							SO:0001583	missense			ENST00000296503.5	1	1	hg19	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946710	0.34377	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704	D;D;D	0.94758	-3.51;-3.51;-3.51	5.9	4.2	0.49525	.	0.105398	0.42682	N	0.000667	D	0.88340	0.6410	L	0.28192	0.835	0.54753	D	0.999982	B	0.12013	0.005	B	0.06405	0.002	T	0.81147	-0.1065	10	0.22109	T	0.4	.	9.8684	0.41160	0.2071:0.0:0.7929:0.0	.	178	P26583	HMGB2_HUMAN	S	178	ENSP00000296503:P178S;ENSP00000393448:P178S;ENSP00000404912:P178S	ENSP00000296503:P178S	P	-	1	0	HMGB2	174489904	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.668000	0.68074	0.841000	0.35020	-0.145000	0.13849	CCA		TCGA-3A-A9IH-01A-12D-A397-08	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	1	0	1	79	336	0	66	1	1	171	348	0	66	2		0	0	0	0	0	2	1	1.000000	78	334	0	64	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.122969	0	0.510000	1.830000	0.512486	0.740000	6.000000e-01	0.930000	0.750000	0.756823	0.740000	0	6.700000e-01	8.300000e-01
APC	324	broad.mit.edu	37	5	112170693	112170693	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:112170693G>A	ENST00000457016.1	+	15	2169	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T	APC_ENST00000508376.2_Missense_Mutation_p.A597T|APC_ENST00000257430.4_Missense_Mutation_p.A597T|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	p.?(1)		3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)			GAATTTGTCAGCACATTGCAC	0.398000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	1	Unknown(1)						SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	ENST00000457016.1	0	1	hg19	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	36	5.859311	0.97036	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.95171	-2.91;-3.63;-2.91;-2.91;-3.09	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.97492	1.0054	10	0.87932	D	0	-19.1568	20.3409	0.98764	0.0:0.0:1.0:0.0	.	599;597	Q4LE70;P25054	.;APC_HUMAN	T	597;579;597;597;597	ENSP00000413133:A597T;ENSP00000423224:A579T;ENSP00000257430:A597T;ENSP00000427089:A597T;ENSP00000423828:A597T	ENSP00000257430:A597T	A	+	1	0	APC	112198592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GCA		TCGA-3A-A9IH-01A-12D-A397-08	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	0	0	0	5	410	0	58	0	3.434690e-03	0	6	0	58	2		0	0	0	0	0	2	1	0.937104	5	408	0	57	2		0	0	0	0	0	2	-2.916433	1	1	0	0		1	1	2	3	2.137110	0	0.510000	1.830000	0.516169	0.050000	1.000000e-02	1.000000	0.050000	0.092749	0.050000	0	2.000000e-02	9.000000e-02
PCDHGA2	56113	broad.mit.edu	37	5	140719009	140719009	+	Silent	SNP	G	G	A	rs151023570		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:140719009G>A	ENST00000394576.2	+	1	471	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2			77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TTAAGAATGCGCATGATGCAG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000394576.2	1	1	hg19	CCDS47289.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	0	0	0	13	482	0	119	0	4.856798e-03	0	4	0	119	2		0	0	0	0	0	2	1	0.999525	13	479	0	117	2		0	0	0	0	0	2	-2.800669	1	1	0	0		1	1	2	3	2.137110	0	0.510000	1.830000	0.516169	0.100000	5.000000e-02	1.000000	0.100000	0.145395	0.100000	0	7.000000e-02	1.500000e-01
ATG10	83734	broad.mit.edu	37	5	81474399	81474399	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:81474399C>T	ENST00000282185.3	+	5	740	c.446C>T	c.(445-447)aCg>aTg	p.T149M	ATG10_ENST00000458350.3_Missense_Mutation_p.T149M|ATG10_ENST00000513634.1_Missense_Mutation_p.T149M|ATG10_ENST00000514253.2_3'UTR	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10			9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)			GACACTATTACGCAACAGGTT	0.433000																								0							SO:0001583	missense			ENST00000282185.3	0	1	hg19	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431692	0.43122	.	.	ENSG00000152348	ENST00000282185;ENST00000458350;ENST00000513634	T;T;T	0.55413	1.58;1.58;0.52	5.37	3.55	0.40652	Autophagy-related protein 3 (1);	0.159978	0.53938	D	0.000049	T	0.74481	0.3722	M	0.90145	3.09	0.42169	D	0.991636	D;D	0.89917	1.0;0.996	D;P	0.75484	0.986;0.863	T	0.77672	-0.2500	10	0.87932	D	0	-3.6582	10.2806	0.43537	0.0:0.7898:0.1361:0.0741	.	149;149	D6RDX3;Q9H0Y0	.;ATG10_HUMAN	M	149	ENSP00000282185:T149M;ENSP00000404938:T149M;ENSP00000425225:T149M	ENSP00000282185:T149M	T	+	2	0	ATG10	81510155	0.996000	0.38824	0.685000	0.30070	0.300000	0.27592	3.737000	0.55060	0.725000	0.32318	0.305000	0.20034	ACG		TCGA-3A-A9IH-01A-12D-A397-08	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	0	0	0	7	243	0	36	0	2.138463e-01	0	27	0	36	2		0	0	0	0	0	2	1	0.980187	7	240	0	36	2		0	0	0	0	0	2	-3.539786	1	1	121412	11	43	1	1	2	3	2.137110	0	0.510000	1.830000	0.516169	0.110000	4.000000e-02	1.000000	0.110000	0.158813	0.110000	0	7.000000e-02	1.800000e-01
T	6862	broad.mit.edu	37	6	166572035	166572035	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:166572035G>A	ENST00000296946.2	-	9	1544	c.1076C>T	c.(1075-1077)aCc>aTc	p.T359I	T_ENST00000366871.3_Missense_Mutation_p.T301I	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)			39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)			GGAGCCCGGGGTGACGGCGCC	0.687000									Chordoma, Familial Clustering of															0							SO:0001583	missense	Familial Cancer Database		ENST00000296946.2	1	1	hg19	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983254	0.35036	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83914	-1.78;-1.78	4.92	4.03	0.46877	.	0.368313	0.26109	N	0.026292	T	0.71736	0.3375	M	0.65975	2.015	0.48087	D	0.999585	P;B;P	0.36392	0.551;0.005;0.551	B;B;B	0.36885	0.235;0.017;0.235	T	0.71248	-0.4649	10	0.23891	T	0.37	.	12.083	0.53682	0.084:0.0:0.916:0.0	.	301;359;301	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	I	359;359;301	ENSP00000296946:T359I;ENSP00000355836:T301I	ENSP00000296946:T359I	T	-	2	0	T	166492025	1.000000	0.71417	0.002000	0.10522	0.387000	0.30353	5.408000	0.66368	2.406000	0.81754	0.655000	0.94253	ACC		TCGA-3A-A9IH-01A-12D-A397-08	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	1	0	0	22	41	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1.000000	22	41	0	19	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.613336	1	0.510000	1.830000	0.342282	0.880000	6.400000e-01	1.000000	0.990000	0.873415	0.880000	1	7.700000e-01	9.700000e-01
HIST1H2BE	8344	broad.mit.edu	37	6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	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-3A-A9IH-01A-12D-A397-08	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	0	0	0	5	547	1	175	0	1.361073e-04	0	2	1	175	2		0	0	0	0	0	2	0	0.065207	5	538	1	177	12		0	0	0	0	0	2	-1.789810	0	1	0	0		1	0	1	1	1.599230	1	0.510000	1.830000	0.344525	0.020000	0	0.060000	0.030000	0.031628	0.020000	0	1.000000e-02	4.000000e-02
NOTCH4	4855	broad.mit.edu	37	6	32171920	32171920	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:32171920G>C	ENST00000375023.3	-	19	3250	c.3112C>G	c.(3112-3114)Cac>Gac	p.H1038D		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4			100					TCACCTGTGTGTCCAGGCAGA	0.622000																								0							SO:0001583	missense			ENST00000375023.3	1	1	hg19	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359258	0.41801	.	.	ENSG00000204301	ENST00000375023	D	0.87334	-2.24	4.77	0.511	0.16989	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.469254	0.18037	N	0.153753	T	0.65386	0.2686	L	0.41492	1.28	0.80722	D	1	B	0.31599	0.33	B	0.19148	0.024	T	0.62595	-0.6821	10	0.72032	D	0.01	.	6.776	0.23621	0.5687:0.0:0.4313:0.0	.	1038	Q99466	NOTC4_HUMAN	D	1038	ENSP00000364163:H1038D	ENSP00000364163:H1038D	H	-	1	0	NOTCH4	32279898	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.363000	0.52321	0.202000	0.20498	0.561000	0.74099	CAC		TCGA-3A-A9IH-01A-12D-A397-08	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	1	32	62	0	27	0	6.621619e-01	0	6	0	27	2		0	0	0	0	0	2	1	1.000000	32	62	0	25	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.616394	1	0.510000	1.830000	0.344525	0.900000	6.900000e-01	1.000000	1.000000	0.894196	0.900000	1	8.000000e-01	9.800000e-01
IGF2BP3	10643	broad.mit.edu	37	7	23458413	23458413	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:23458413C>T	ENST00000258729.3	-	3	623	c.267G>A	c.(265-267)ccG>ccA	p.P89P	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3			34					GTAAATGAGGCGGGATATTTC	0.313000																								0							SO:0001819	synonymous_variant			ENST00000258729.3	1	1	hg19	CCDS5382.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	1	0	1	19	112	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	0.999993	19	110	0	27	2		0	0	0	0	0	2	-11.813570	1	1	0	0		1	0	0	0	2.046661	0	0.510000	1.830000	0.499796	0.560000	3.500000e-01	0.800000	0.550000	0.573266	0.560000	0	4.500000e-01	6.900000e-01
ZNF804B	219578	broad.mit.edu	37	7	88965553	88965553	+	Missense_Mutation	SNP	C	C	T	rs141579525	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:88965553C>T	ENST00000333190.4	+	4	3866	c.3257C>T	c.(3256-3258)aCt>aTt	p.T1086I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	p.T1086N(1)		144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)		ACTGGTGTGACTGATTCAACA	0.353000										HNSCC(36;0.09)														1	Substitution - Missense(1)						SO:0001583	missense			ENST00000333190.4	1	0	hg19	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	5.703	0.314232	0.10789	0.001589	0.004303	ENSG00000182348	ENST00000333190	T	0.05025	3.51	4.77	1.94	0.25998	.	0.887861	0.09842	N	0.748721	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	B	0.21381	0.055	B	0.18263	0.021	T	0.43605	-0.9381	10	0.37606	T	0.19	0.0263	3.5384	0.07802	0.1322:0.5672:0.1461:0.1545	.	1086	A4D1E1	Z804B_HUMAN	I	1086	ENSP00000329638:T1086I	ENSP00000329638:T1086I	T	+	2	0	ZNF804B	88803489	0.102000	0.21896	0.038000	0.18304	0.675000	0.39556	0.870000	0.28010	0.702000	0.31825	0.655000	0.94253	ACT		TCGA-3A-A9IH-01A-12D-A397-08	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	1	0	1	76	210	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1.000000	75	208	0	31	2		0	0	0	0	0	2	-2.232032	0	1	121412	353	56	1	0	0	0	2.058970	0	0.510000	1.830000	0.504950	0.990000	8.300000e-01	1.000000	1.000000	0.974809	0.990000	1	9.200000e-01	1
ST18	9705	broad.mit.edu	37	8	53045690	53045690	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:53045690C>T	ENST00000276480.7	-	21	3054	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger			85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)			CGAGGGCATCCGGACAAGCTG	0.463000																								0							SO:0001583	missense			ENST00000276480.7	1	1	hg19	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217661	0.95104	.	.	ENSG00000147488	ENST00000276480	T	0.69685	-0.42	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87848	0.2656	10	0.87932	D	0	-21.3142	20.2985	0.98592	0.0:1.0:0.0:0.0	.	791	O60284	ST18_HUMAN	R	791	ENSP00000276480:G791R	ENSP00000276480:G791R	G	-	1	0	ST18	53208243	1.000000	0.71417	0.992000	0.48379	0.777000	0.43975	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GGA		TCGA-3A-A9IH-01A-12D-A397-08	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1	1	0	1	128	419	0	104	0	0	0	1	0	104	2		0	0	0	0	0	2	1	1.000000	126	414	0	103	2		0	0	0	0	0	2	-4.171717	1	1	0	0		1	0	0	0	2.040484	0	0.510000	1.830000	0.497178	0.880000	7.500000e-01	1.000000	1.000000	0.894026	0.880000	1	8.200000e-01	9.600000e-01
KCNB2	9312	broad.mit.edu	37	8	73848252	73848252	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:73848252C>T	ENST00000523207.1	+	3	1250	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2			85	Breast(64;0.137)		Epithelial(68;0.105)	Dalfampridine(DB06637)	CTGCAGGAAACGGACGAATTT	0.473000																								0							SO:0001583	missense			ENST00000523207.1	0	1	hg19	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	3.822	-0.037564	0.07497	.	.	ENSG00000182674	ENST00000523207	D	0.97480	-4.4	5.93	-10.1	0.00402	.	1.616920	0.03742	N	0.255128	D	0.90027	0.6886	N	0.11756	0.17	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.81671	-0.0827	10	0.44086	T	0.13	.	7.1553	0.25635	0.2329:0.3187:0.0:0.4484	.	221	Q92953	KCNB2_HUMAN	M	221	ENSP00000430846:T221M	ENSP00000430846:T221M	T	+	2	0	KCNB2	74010806	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.989000	0.03736	-1.915000	0.01077	-0.274000	0.10170	ACG		TCGA-3A-A9IH-01A-12D-A397-08	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	0	0	0	11	378	0	60	0	1.012619e-03	0	2	0	60	2		0	0	0	0	0	2	1	0.998292	11	374	0	60	2		0	0	0	0	0	2	-2.987159	1	1	121412	7	42	1	0	0	0	2.040484	0	0.510000	1.830000	0.497178	0.100000	5.000000e-02	0.190000	0.110000	0.116977	0.100000	0	7.000000e-02	1.500000e-01
CDH17	1015	broad.mit.edu	37	8	95178163	95178163	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:95178163C>T	ENST00000027335.3	-	10	1232	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	CDH17_ENST00000441892.2_Missense_Mutation_p.E156K|CDH17_ENST00000450165.2_Missense_Mutation_p.E370K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)			52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)		GCAGTATTTTCTTCATCCCTG	0.418000																								0							SO:0001583	missense			ENST00000027335.3	0	1	hg19	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	8.643	0.896470	0.17686	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.59502	0.26;4.6;0.26	5.89	0.741	0.18336	Cadherin (4);Cadherin-like (1);	0.629868	0.14169	N	0.336864	T	0.44138	0.1279	L	0.56124	1.755	0.39255	D	0.964112	B;B	0.28026	0.198;0.019	B;B	0.24269	0.05;0.052	T	0.22556	-1.0213	10	0.13470	T	0.59	-9.1691	7.0442	0.25037	0.0:0.5545:0.2333:0.2122	.	156;370	E7EN24;Q12864	.;CAD17_HUMAN	K	370;156;370	ENSP00000027335:E370K;ENSP00000392811:E156K;ENSP00000401468:E370K	ENSP00000027335:E370K	E	-	1	0	CDH17	95247339	0.655000	0.27376	0.866000	0.34008	0.051000	0.14879	0.052000	0.14163	0.391000	0.25143	0.561000	0.74099	GAA		TCGA-3A-A9IH-01A-12D-A397-08	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	0	0	0	4	241	0	34	0	2.687242e-02	0	12	0	34	2		0	0	0	0	0	2	0	0.887207	1	240	0	34	2		0	0	0	0	0	2	-5.245192	1	0	0	0		1	0	0	0	2.040484	0	0.510000	1.830000	0.497178	0.060000	1.000000e-02	0.150000	0.060000	0.077009	0.060000	0	3.000000e-02	1.100000e-01
OR13F1	138805	broad.mit.edu	37	9	107267379	107267379	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:107267379C>T	ENST00000334726.2	+	1	925	c.836C>T	c.(835-837)gCc>gTc	p.A279V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1			31					TTGGTGTATGCCGGACAAACC	0.418000																								0							SO:0001583	missense			ENST00000334726.2	0	1	hg19	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822838	0.16678	.	.	ENSG00000186881	ENST00000334726	T	0.00063	8.78	4.3	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	1.231740	0.05909	N	0.631330	T	0.00210	0.0006	L	0.45137	1.4	0.09310	N	1	B	0.18013	0.025	B	0.26770	0.073	T	0.49418	-0.8942	10	0.72032	D	0.01	.	12.8128	0.57649	0.0:0.6638:0.3362:0.0	.	279	Q8NGS4	O13F1_HUMAN	V	279	ENSP00000334452:A279V	ENSP00000334452:A279V	A	+	2	0	OR13F1	106307200	0.000000	0.05858	0.501000	0.27601	0.197000	0.23852	0.950000	0.29122	0.740000	0.32651	0.655000	0.94253	GCC		TCGA-3A-A9IH-01A-12D-A397-08	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1	0	0	0	6	358	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	0.964390	6	355	0	67	2		0	0	0	0	0	2	-2.515882	1	1	0	0		1	0	0	0	2.039692	0	0.510000	1.830000	0.497178	0.060000	2.000000e-02	0.130000	0.060000	0.072905	0.060000	0	4.000000e-02	1.000000e-01
GOLGA1	2800	broad.mit.edu	37	9	127651788	127651788	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:127651788C>T	ENST00000373555.4	-	17	1858	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	p.E509K(1)		20					TGTTCCTTCTCGTCTATTATG	0.512000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000373555.4	1	1	hg19	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691632	0.48097	.	.	ENSG00000136935	ENST00000373555	T	0.35789	1.29	5.22	3.38	0.38709	.	0.000000	0.47093	D	0.000241	T	0.28234	0.0697	L	0.47716	1.5	0.29653	N	0.843775	D	0.58620	0.983	B	0.39299	0.296	T	0.16012	-1.0417	10	0.31617	T	0.26	-1.372	11.536	0.50636	0.0:0.8667:0.0:0.1333	.	509	Q92805	GOGA1_HUMAN	K	509	ENSP00000362656:E509K	ENSP00000362656:E509K	E	-	1	0	GOLGA1	126691609	0.505000	0.26131	0.581000	0.28614	0.206000	0.24218	0.853000	0.27777	0.698000	0.31739	0.448000	0.29417	GAG		TCGA-3A-A9IH-01A-12D-A397-08	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	1	0	1	89	451	0	139	1	9.667841e-01	4	26	0	139	2		0	0	0	0	0	2	1	1.000000	89	448	0	134	2		0	0	0	0	0	2	-2.888403	1	1	121412	2	35	1	0	0	0	2.039692	0	0.510000	1.830000	0.497178	0.620000	5.100000e-01	0.750000	0.630000	0.633391	0.620000	0	5.600000e-01	6.900000e-01
AQP7	364	broad.mit.edu	37	9	33386077	33386077	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:33386077C>T	ENST00000537089.1	-	5	565	c.247G>A	c.(247-249)Gag>Aag	p.E83K	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K			O14520	AQP7_HUMAN	aquaporin 7			17			LUSC - Lung squamous cell carcinoma(29;0.00788)		CCACTGACCTCATTCAGGAAG	0.592000																								0							SO:0001583	missense			ENST00000537089.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	N	24.0	4.485614	0.84854	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	3.98	3.98	0.46160	Aquaporin-like (2);	0.106561	0.64402	D	0.000003	T	0.67618	0.2912	H	0.98238	4.18	0.44789	D	0.997793	P;D;P;D	0.63046	0.9;0.992;0.948;0.982	P;D;P;P	0.70227	0.643;0.968;0.771;0.752	T	0.78526	-0.2170	10	0.87932	D	0	-26.5908	11.903	0.52694	0.0:1.0:0.0:0.0	.	174;175;118;175	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	K	83;174;43;175;118;83;174;175;111	ENSP00000441619:E83K;ENSP00000368821:E174K;ENSP00000412868:E43K;ENSP00000297988:E175K;ENSP00000396111:E118K;ENSP00000410138:E83K;ENSP00000368820:E174K;ENSP00000439534:E175K;ENSP00000368817:E111K	ENSP00000297988:E175K	E	-	1	0	AQP7	33376077	0.998000	0.40836	0.999000	0.59377	0.984000	0.73092	1.723000	0.38053	2.507000	0.84556	0.645000	0.84053	GAG		TCGA-3A-A9IH-01A-12D-A397-08	AQP7-202	KNOWN	basic	protein_coding	protein_coding		0	0	0	7	188	0	44	0	1.667886e-02	0	5	0	44	2		0	0	0	0	0	2	1	0.978953	6	183	0	44	2		0	0	0	0	0	2	-2.505617	1	1	0	0		1	0	0	0	2.039692	0	0.510000	1.830000	0.497178	0.140000	6.000000e-02	0.260000	0.140000	0.154386	0.140000	0	9.000000e-02	2.000000e-01
NRK	203447	broad.mit.edu	37	X	105183982	105183982	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:105183982A>G	ENST00000243300.9	+	23	4219	c.3916A>G	c.(3916-3918)Aaa>Gaa	p.K1306E	NRK_ENST00000428173.2_Missense_Mutation_p.K1307E	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase			76					GGAAGCCTGCAAAGCTATTGA	0.388000										HNSCC(51;0.14)														0							SO:0001583	missense			ENST00000243300.9	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	13.34	2.206676	0.39003	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04758	3.56;3.56	4.96	4.96	0.65561	Citron-like (2);	0.000000	0.49916	D	0.000135	T	0.04815	0.0130	L	0.36672	1.1	0.80722	D	1	B;P	0.42078	0.372;0.77	B;B	0.40782	0.053;0.34	T	0.38908	-0.9639	10	0.54805	T	0.06	.	5.4621	0.16622	0.8038:0.0:0.1962:0.0	.	974;1306	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	E	1306;1307	ENSP00000434830:K1306E;ENSP00000438378:K1307E	ENSP00000434830:K1306E	K	+	1	0	NRK	105070638	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	3.190000	0.50973	1.943000	0.56356	0.441000	0.28932	AAA		TCGA-3A-A9IH-01A-12D-A397-08	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	1	0	0	4	55	0	9	0	2.203420e-02	0	3	0	9	2		0	0	0	0	0	2	1	0.892714	4	55	0	9	2		0	0	0	0	0	2	-10.601380	1	1	0	0		1	0	1	1			0.510000	1.830000	0.510000	0.290000	1.000000e-01	0.600000	0.260000	0.316271	0.290000	0	1.700000e-01	4.400000e-01
USP26	83844	broad.mit.edu	37	X	132159668	132159668	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:132159668G>A	ENST00000511190.1	-	6	3050	c.2581C>T	c.(2581-2583)Cgg>Tgg	p.R861W	USP26_ENST00000406273.1_Missense_Mutation_p.R861W|USP26_ENST00000370832.1_Missense_Mutation_p.R861W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26			60	Acute lymphoblastic leukemia(192;0.000127)				CCTAACACCCGCATATCATCG	0.438000													NSCLC(104;342 1621 36940 47097 52632)											0							SO:0001583	missense			ENST00000511190.1	0	1	hg19	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844003	0.51164	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.33216	1.42;1.42;1.42	3.91	1.06	0.20224	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.646050	0.04079	N	0.309366	T	0.28200	0.0696	N	0.14661	0.345	0.09310	N	1	D	0.56746	0.977	P	0.51453	0.67	T	0.21827	-1.0234	10	0.66056	D	0.02	5.8655	6.3523	0.21383	0.0:0.3293:0.3298:0.341	.	861	Q9BXU7	UBP26_HUMAN	W	861	ENSP00000359869:R861W;ENSP00000423390:R861W;ENSP00000384360:R861W	ENSP00000359869:R861W	R	-	1	2	USP26	131987334	0.004000	0.15560	0.000000	0.03702	0.226000	0.24999	0.920000	0.28705	0.086000	0.17137	-0.324000	0.08512	CGG		TCGA-3A-A9IH-01A-12D-A397-08	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	0	0	0	5	340	1	54		0	0	0	1	54	2		0	0	0	0	0	2	0	0.000913	5	336	1	50	21		0	0	0	0	0	2	-2.441146	0	1	121400	1	38	1	0	1	1			0.510000	1.830000	0.510000	0.050000	1.000000e-02	0.130000	0.060000	0.067586	0.050000	0	3.000000e-02	9.000000e-02
DMD	1756	broad.mit.edu	37	X	32591647	32591647	+	Splice_Site	SNP	G	G	A	rs140919039		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:32591647G>A	ENST00000357033.4	-	15	2018	c.1812C>T	c.(1810-1812)gcC>gcT	p.A604A	DMD_ENST00000288447.4_Splice_Site_p.A596A|DMD_ENST00000378677.2_Splice_Site_p.A600A	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)			AAGTACATACGGCCAGTTTTT	0.308000																								0							SO:0001630	splice_region_variant			ENST00000357033.4	1	0	hg19	CCDS14233.1																																																																																				TCGA-3A-A9IH-01A-12D-A397-08	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	1	0	1	72	207	0	37	0	0	0	1	0	37	2		0	0	0	0	0	2	1	1.000000	72	205	0	37	2		0	0	0	0	0	2	-3.316126	1	1	121382	41	46	1	0	1	1			0.510000	1.830000	0.510000	0.990000	8.100000e-01	1.000000	1.000000	0.966489	0.990000	1	9.000000e-01	1
ZXDB	158586	broad.mit.edu	37	X	57619818	57619818	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:57619818G>A	ENST00000374888.1	+	1	1550	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B			27					ATTCACCTGCGGAGTCACACC	0.488000																								0							SO:0001583	missense			ENST00000374888.1	1	1	hg19	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	17.27	3.346960	0.61183	.	.	ENSG00000198455	ENST00000374888	T	0.18810	2.19	3.64	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.52126	1.63	0.52501	D	0.999956	D	0.76494	0.999	D	0.80764	0.994	T	0.05632	-1.0873	10	0.87932	D	0	.	8.2851	0.31924	0.1245:0.0:0.8755:0.0	.	446	P98169	ZXDB_HUMAN	Q	446	ENSP00000364023:R446Q	ENSP00000364023:R446Q	R	+	2	0	ZXDB	57636543	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	8.599000	0.90856	0.714000	0.32081	0.483000	0.47432	CGG		TCGA-3A-A9IH-01A-12D-A397-08	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	1	0	0	109	325	0	107	0	8.040892e-01	0	11	0	107	2		0	0	0	0	0	2	1	1.000000	105	307	0	108	2		0	0	0	0	0	2	-5.211927	1	1	0	0		1	0	1	1			0.510000	1.830000	0.510000	0.970000	8.200000e-01	1.000000	1.000000	0.960536	0.970000	1	9.000000e-01	1
